With precision medicine heating up, Genome Medical …

Precision medicine is gaining steamas consumers and healthcare organizations get up to speed with what promises to be a new paradigm in wellness care delivery. Consider the genetic testing startup 23andMe, which just landed $250 million in funding this past September. That financing brings the total capital raised by the company to $491 million as the kits become more popular.

And just this week, both Google and Microsoft participated in a $58 million funding round into precision medicine upstart DNAnexus and its cloud-based platform for machine learning and the sharing of biomedical and genomics data.

With this sort of momentum industry-wide, another startup, Genome Medical, has just launched programs designed to enable employer groups to offer genetic services and physician-guided genetic testing to their employees through its national network of clinical genetic experts. Employees can consult independently with Genome Medical providers includingtelemedicine consultations to ensure confidentiality and privacy of employee health information.

With more than 5,000 inherited genetic disorders and only about 6,000 practicing genetic experts in the United States, finding and accessing the right professional can be a challenge, and wait times for an appointment can be long. Further, research shows that non-genetic specialist doctors have an order error rate for genetic testing that is three times the error rate of genetic specialists, according to Genome Medical.

"Many individuals have a family history suggestive of an inherited condition such as cancer or heart disease, but lack guidance from their own providers about how to evaluate these risks," said Robert Green, MD, a medical geneticist at Harvard Medical School and co-founder of Genome Medical. "Employer programs that provide their employees with confidential access to independent genetics experts can help these individuals and their families benefit from evaluation and testing that meet established recommendations.

Genome Medical now offers employer groups four genetic programs. The first is genetic medical services. Genome Medical can help identify individuals at risk for an inherited disease or condition who would qualify for genetic testing under current medical guidelines and insurance coverage. Services include genetic counseling, genetic test ordering when indicated, simplified sample collection, medical case management and referrals as needed.

Proactive health programs, meanwhile, offer preemptive genetic screening for actionable genetic conditions to help individuals learn of genetic risks and take appropriate action. The program includes: detection of changes in genes associated with inheritable cancers, cardiovascular diseases and blood disorders; how genes affect response to anesthesia and other medications; and carrier testing for family planning and reproductive health.

The companys Genetics Resource Center offers a national network of genetic experts to employees. Using interactive tools, real-time chat services and a telehealth platform, individuals can ask questions and explore options across the full spectrum of genetic topics and conditions.

And the second opinion program provides a resource for employees to get an expert opinion on any genetic-related diagnosis or treatment plan. Genome Medicals network includes physicians across multiple specialties at top medical institutions who can provide expert second opinions.

"Recent studies suggest that many patients who meet guidelines for genetic testing are not receiving appropriate genetic services," said Lisa Alderson, co-founder and CEO of Genome Medical. "Genome Medical employer programs can help accelerate access to the standard of care in genetics by providing another avenue to identify individuals for whom a genetic test might be beneficial. Employees gain access to information that helps them be proactive about their health, and having healthier employees is in the interest of all employers."

Twitter:@SiwickiHealthITEmail the writer: bill.siwicki@himssmedia.com

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With precision medicine heating up, Genome Medical ...

New Medical Geneticists Join Ted Rogers Centre for Heart Research – Newswise (press release)

Newswise TORONTO, September 6, 2017 The Ted Rogers Centre for Heart Research today announces that Dr. Raymond Kim is its newest scientific lead, guiding efforts at the countrys only clinic devoted to cardiac genomics.

The Ted Rogers Centre Cardiac Genome Clinic is Canadas first such program to investigate the genetic causes of heart failure in both children and adults. At one of the worlds only cardiac genome clinics, researchers use whole genome sequencing to help identify the cause, formulate appropriate treatment options and optimize the management of patients and family members.

Genomics is a major part of our mission to better understand the nature of heart failure in order to develop novel treatments and preventative strategies, said Dr. Mansoor Husain, executive director of the Ted Rogers Centre. We are excited to have Raymond on board to build a unique program that is set up to have a very positive impact on heart failure care across the lifespan.

Dr. Kim, one of a handful of dual-trained internal medicine and medical genetics specialists in Toronto, is a rising star in medical genetics. He holds appointments at the Division of Clinical and Metabolic Genetics at SickKids, at the Fred A. Litwin Family Centre in Genetic Medicine that is jointly run by UHN and Mount Sinai Hospital, and at the Princess Margaret Cancer Centre. His research interests include genomic medicine, rare disorder registries and weaving novel genetic technologies into patient care.

Dr. Kim will co-direct the Cardiac Genome Clinic along with fellow medical geneticist Dr. Rebekah Jobling (SickKids), who is medical geneticist in the SickKids Division of Clinical and Metabolic Genetics and molecular geneticist in its Genome Diagnostics Molecular Laboratory.

The clinic opens up the incredible opportunity for families facing cardiovascular issues to have a team of scientists search for answers in the genome, said Dr. Kim. Genome testing will gradually become a normalized part of care, and we are at the forefront of this evolution, and are already helping shape best practices in this area.The addition of unique team members like Dr. Jobling makes our team world-class.

Dr. Kim joins three other scientific leads of the Ted Rogers Centre for Heart Research: Dr. Seema Mital, Dr. Heather Ross, and Professor Craig Simmons who are respective experts in genetics, heart failure, and cell and tissue engineering. Together, they are helping direct a vast, collaborative effort to change the lives of Canadians who live with, or are at risk of, heart failure a costly disease that is a global epidemic.

ABOUT THE TED ROGERS CENTRE FOR HEART RESEARCH

The Ted Rogers Centre for Heart Research aims to develop new diagnoses, treatments and tools to prevent and individually manage heart failure Canadas fastest growing cardiac disease. Enabled by an unprecedented gift of $130 million from the Rogers family, the Centre was jointly conceived by its three partner organizations: The Hospital for Sick Children, University Health Network, and the University of Toronto. Together, they committed an additional $139 million toward the Centre representing a $270 million investment in basic science, translational and clinical research, innovation, and education in regenerative medicine, genomics, and the clinical care of children and adults. It is addressing heart failure across the lifespan. http://www.tedrogersresearch.ca / @trogersresearch

To transform the care of children and adults with heart failure through discovery, innovation and knowledge translation.

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New Medical Geneticists Join Ted Rogers Centre for Heart Research - Newswise (press release)

Taconic Biosciences Sponsors Custom Model to Support Kabuki Syndrome, a Rare Disorder Causing Intellectual … – GlobeNewswire (press release)

HUDSON, N.Y., Aug. 31, 2017 (GLOBE NEWSWIRE) -- Taconic Biosciences, a global leader in genetically engineered rodent models and associated services, is funding the development of a custom mouse model to study Kabuki syndrome, a rare genetic disorder. Taconic is donating model generation services as a third-time sponsor of the Rare Disease Science Challenge, BeHEARD. Hosted by the Rare Genomics Institute, the Rare Disease Science Challenge is an annual event in which industry sponsors donate services to accelerate rare disease research.

Characterized by mild to moderate intellectual disability, stunted growth, immune dysregulation, and hearing loss, Kabuki syndrome is caused by mutations in the KMT2D or KDM6A genes. Taconic will use CRISPR/Cas 9 gene editing technology to develop the first Kmt2d missense mouse model of Kabuki syndrome and generate a cohort of mice for study. In parallel, Taconic will cryopreserve and store the mouse line.

Taconic recognizes the vital role mouse models play in understanding the mechanisms of rare diseases and the challenges of funding their research, said Bob Rosenthal, CEO, Taconic Biosciences. Taconic is committed to advancing rare disease research through efforts such as sponsorship of the BeHEARD challenge and donation of an integrated solution of model generation, breeding and cryopreservation capabilities.

Teresa Luperchio, PhD, a postdoctoral fellow in the laboratory of Hans Bjornsson, MD, PhD, director of the Epigenetics and Chromatin Clinic, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, will employ the Taconic model. Dr. Bjornssons lab previously characterized a mouse model carrying a loss-of-function variant of the Kmt2d gene and demonstrated reversal of some learning and memory deficits using therapeutic strategies. However, the initial mouse line models only a subset of individuals with Kabuki syndrome. Taconic will generate a Kabuki syndrome mouse model based on a patient-specific missense mutation. This will enable investigators to assess whether therapies they are developing can reverse disability in a wider spectrum of the Kabuki syndrome patient population.

The model will be invaluable in moving the field closer to treating what has been viewed as an untreatable disorder. Experience with our first mouse model showed that for patients with the KMT2D mutation, the disease may be treatable in humans, Dr. Bjornsson said. We hope the Taconic model will demonstrate this capability in an expanded patient population, allowing us to employ a single therapeutic strategy for all Kabuki syndrome type 1 patients.

Taconics ability to develop a patient-specific model was essential. Generating a model that closely represents what is seen in patients is critical for translating our findings from the bench to the clinic, Dr. Luperchio says.

To learn more about Taconics custom model generation, please call 1-888-TACONIC (888-822-6642) in the US or +45 70 23 04 05 in Europe, or email info@taconic.com.

To learn about the BeHEARD Project, visit http://www.raregenomics.org/beheard-competition/.

About Taconic Biosciences, Inc.Taconic Biosciences is a global leader in genetically engineered rodent models and services. Founded in 1952, Taconic helps biotechnology companies and institutions acquire, custom generate, breed, precondition, test, and distribute valuable research models worldwide. Specialists in genetically engineered mouse and rat models, precision research mouse models, and integrated model design and breeding services, Taconic operates three service laboratories and six breeding facilities in the U.S. and Europe, maintains distributor relationships in Asia and has global shipping capabilities to provide animal models almost anywhere in the world.

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Taconic Biosciences Sponsors Custom Model to Support Kabuki Syndrome, a Rare Disorder Causing Intellectual ... - GlobeNewswire (press release)

Designer babies not the most urgent concern of genetic medicine … – Toronto Star

In this photo provided by Oregon Health & Science University, taken through a microscope, human embryos grow in a laboratory for a few days after researchers used gene editing technology to successfully repair a heart disease-causing genetic mutation. The work, a scientific first led by researchers at Oregon Health & Science University, marks a step toward one day preventing babies from inheriting diseases that run in the family. ( Oregon Health & Science University via AP)

By Johnny Kung

Mon., Aug. 21, 2017

Recently, an international team of scientists successfully corrected a disease-causing gene in human embryos, using a gene editing technique called CRISPR. This has led to much excitement about the prospects of curing debilitating diseases in entire family lineages.

At the same time, the possibility of changing embryos genes has renewed fear about designer babies. The hype in both directions should be tempered by the fact that both these scenarios are some ways off a lot more work will need to be done to improve the techniques safety and efficacy before it can be applied in the clinic.

And because a lot of diseases, as well as other physical and behavioural characteristics, are controlled by the complex interaction of many genes with each other and with the environment, in many cases simple genetic fixes may never be possible.

But while the technology is still in early stages, now is the time to have frank, open and societywide conversations about how gene editing should be moving forward and genetic medicine more broadly, including the use of advanced genetic testing and sequencing to diagnose disease, personalize medical treatments, screening babies, etc.

We must raise broad awareness of the health benefits as well as the personal, social and ethical implications of genetics. This is important for individuals both to understand their options when making decisions about their own health care, and to participate as informed citizens in democratic deliberations about whether and how genetic technologies should be developed and applied.

In the U.S., affordability and insurance coverage strongly influence access to genetic medicine. In Canada, the reality of strapped budgets means access is far from equal either. But our public health-care system means it is at least conceivable that these technologies will eventually be available to a higher proportion of people who need them.

For example, OHIP currently pays for genetic testing and counselling for a number of diseases, such as http://www.mountsinai.on.ca/care/mkbc/medical-services/genetic-testingBRCA testingEND for breast and ovarian cancer, for patients who satisfy certain eligibility criteria. It also covers a kind of genetic screening tests called non-invasive prenatal testing (NIPT) for eligible pregnant women. Precisely because of this potential for widespread adoption, there is all the greater need for broad-based conversations about genetics.

Crucially, to ensure that the largest possible cross section of society will benefit from, and not be harmed by, advances in genetic technologies, these conversations must include the voices of all communities.

This is especially true for those who, for well-justified historical reasons, may harbour deep distrust of the biomedical establishment. In the U.S., for much of the 20th century, the eugenics movement had resulted in a range of sterilization programs, discriminatory policies and scientific abuses (such as the infamous Tuskegee syphilis trials) that disproportionately targeted the poor and, especially, racial minorities such as African Americans.

While the eugenics movement might have been less established in Canada, where it did occur (e.g., the sterilization program in Alberta or the Indian hospitals in B.C.) it had most heavily affected Indigenous communities. In both countries, this shameful history has led to lower trust and usage of the health-care system by the affected communities.

As genetic medicine advances, many scientists and health researchers are pointing out the importance of having the diversity of human populations represented in genetic studies in order to gain medical insights that can benefit everyone. If we fail to fully engage these under-represented communities and ensure that genetics is not just another way to exploit and discriminate against them, then we risk worsening this historical and ongoing injustice.

New genetic technologies, such as gene editing, also bring issues of disability rights into sharper focus. While designer babies may not be an immediate concern, even the possibility of selecting and changing our offsprings characteristics raises thorny questions.

For example, what conditions count as medically necessarily to treat how about deafness, dwarfism, autism, or intersex conditions? Ultimately, it is about what kinds of people get to live, and who gets to make those decisions. Many disability rights advocates (e.g., the Down syndrome community) are already voicing concerns about what these emerging technologies mean for how their communities are seen and valued today.

We must make sure that the conversations around genetics are not only about generalized notions of safety or effectiveness, or concerns of playing God. These conversations must also encompass questions of access and justice, and acknowledge that the benefits and harms of genetic technologies, like any new technologies, are not distributed equally.

And these conversations must involve all communities (be they of different racial or ethnic background, gender or sexuality, and physical or cognitive abilities) in a way that ensures their voices are respected and heard.

This is a task that will involve concerted efforts from scientists, funders and industry, to build trust with these communities and to genuinely listen and respond to their concerns. And it will need to be done in collaboration with many partners, including schools, community and faith groups, and the art/entertainment industry.

The ability to understand and, perhaps one day, change our genetics has huge potential to improve human well-being. Lets make sure that everyone will enjoy these benefits, and that no communities are left behind, or worse yet, harmed in the process.

Johnny Kung is the director of new initiatives for the Personal Genetics Education Project (www.pged.org ) at Harvard Medical Schools Department of Genetics.

The Toronto Star and thestar.com, each property of Toronto Star Newspapers Limited, One Yonge Street, 4th Floor, Toronto, ON, M5E1E6. You can unsubscribe at any time. Please contact us or see our privacy policy for more information.

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Designer babies not the most urgent concern of genetic medicine ... - Toronto Star

Researcher Seeks to Unravel the Brain’s Genetic Tapestry to Tackle Rare Disorder – University of Virginia

In 2013, University of Virginia researcher Michael McConnell published research that would forever change how scientists study brain cells.

McConnell and a team of nationwide collaborators discovered a genetic mosaic in the brains neurons, proving that brain cells are not exact replicas of each other, and that each individual neuron contains a slightly different genetic makeup.

McConnell, an assistant professor in the School of Medicines Department of Biochemistry and Molecular Genetics, has been using this new information to investigate how variations in individual neurons impact neuropsychiatric disorders like schizophrenia and epilepsy. With a recent $50,000 grant from the Bow Foundation, McConnell will expand his research to explore the cause of a rare genetic disorder known as GNAO1 so named for the faulty protein-coding gene that is its likely source.

GNAO1 causes seizures, movement disorders and developmental delays. Currently, only 50 people worldwide are known to have the disease. The Bow Foundation seeks to increase awareness so that other probable victims of the disorder can be properly diagnosed and to raise funds for further research and treatment.

UVA Today recently sat down with McConnell to find out more about how GNAO1 fits into his broader research and what his continued work means for all neuropsychiatric disorders.

Q. Can you explain the general goals of your lab?

A. My lab has two general directions. One is brain somatic mosaicism, which is a finding that different neurons in the brain have different genomes from one another. We usually think every cell in a single persons body has the same blueprint for how they develop and what they become. It turns out that blueprint changes a little bit in the neurons from neuron to neuron. So you have slightly different versions of the same blueprint and we want to know what that means.

The second area of our work focuses on a new technology called induced pluripotent stem cells, or iPSCs. The technology permits us to make stem cell from skin cells. We can do this with patients, and use the stem cells to make specific cell types with same genetic mutations that are in the patients. That lets us create and study the persons brain cells in a dish. So now, if that person has a neurological disease, we can in a dish study that persons disease and identify drugs that alter the disease. Its a very personalized medicine approach to that disease.

Q. Does cell-level genomic variety exist in other areas of the body outside the central nervous system?

A. Every cell in your body has mutations of one kind or another, but brain cells are there for your whole life, so the differences have a bigger impact there. A skin cell is gone in a month. An intestinal cell is gone in a week. Any changes in those cells will rarely have an opportunity to cause a problem unless they cause a tumor.

Q. How does your research intersect with the goals of the Bow Foundation?

A. Let me back up to a little bit of history on that. When I got to UVA four years ago, I started talking quite a lot with Howard Goodkin and Mark Beenhakker. Mark is an assistant professor in pharmacology. Howard is a pediatric neurologist and works with children with epilepsy. I had this interest in epilepsy and UVA has a historic and current strength in epilepsy research.

We started talking about how to use iPSCs the technology that we use to study mosaicism to help Howards patients. As we talked about it and I learned more about epilepsy, we quickly realized that there are a substantial number of patients with epilepsy or seizure disorders where we cant do a genetic test to figure out what drug to use on those patients.

Clinical guidance, like Howards expertise, allows him to make a pretty good diagnosis and know what drugs to try first and second and third. But around 30 percent of children that come in with epilepsy never find the drug that works, and theyre in for a lifetime of trial-and-error. We realized that we could use iPSC-derived neurons to test drugs in the dish instead of going through all of the trial-and-error with patients. Thats the bigger project that weve been moving toward.

The Bow Foundation was formed by patient advocates after this rare genetic mutation in GNAO1 was identified. GNAO1 is a subunit of a G protein-coupled receptor; some mutations in this receptor can lead to epilepsy while others lead to movement disorders.

Were still trying to learn about these patients, and the biggest thing the Bow Foundation is doing is trying to address that by creating a patient registry. At the same time, the foundation has provided funds for us to start making and testing iPSCs and launch this approach to personalized medicine for epilepsy.

In the GNAO1 patients, we expect to be able to study their neurons in a dish and understand why they behave differently, why the electrical activity in their brain is different or why they develop differently.

Q. What other more widespread disorders, in addition to schizophrenia and epilepsy, are likely to benefit from your research?

A. Im part of a broader project called the Brain Somatic Mosaicism Network that is conducting research on diseases that span the neuropsychiatric field. Our lab covers schizophrenia, but other nodes within that network are researching autism, bipolar disorder, Tourette syndrome and other psychiatric diseases where the genetic cause is difficult to identify. Thats the underlying theme.

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Researcher Seeks to Unravel the Brain's Genetic Tapestry to Tackle Rare Disorder - University of Virginia

Designer babies the not most urgent concern of genetic medicine … – Toronto Star

In this photo provided by Oregon Health & Science University, taken through a microscope, human embryos grow in a laboratory for a few days after researchers used gene editing technology to successfully repair a heart disease-causing genetic mutation. The work, a scientific first led by researchers at Oregon Health & Science University, marks a step toward one day preventing babies from inheriting diseases that run in the family. ( Oregon Health & Science University via AP)

By Johnny Kung

Mon., Aug. 21, 2017

Recently, an international team of scientists successfully corrected a disease-causing gene in human embryos, using a gene editing technique called CRISPR. This has led to much excitement about the prospects of curing debilitating diseases in entire family lineages.

At the same time, the possibility of changing embryos genes has renewed fear about designer babies. The hype in both directions should be tempered by the fact that both these scenarios are some ways off a lot more work will need to be done to improve the techniques safety and efficacy before it can be applied in the clinic.

And because a lot of diseases, as well as other physical and behavioural characteristics, are controlled by the complex interaction of many genes with each other and with the environment, in many cases simple genetic fixes may never be possible.

But while the technology is still in early stages, now is the time to have frank, open and societywide conversations about how gene editing should be moving forward and genetic medicine more broadly, including the use of advanced genetic testing and sequencing to diagnose disease, personalize medical treatments, screening babies, etc.

We must raise broad awareness of the health benefits as well as the personal, social and ethical implications of genetics. This is important for individuals both to understand their options when making decisions about their own health care, and to participate as informed citizens in democratic deliberations about whether and how genetic technologies should be developed and applied.

In the U.S., affordability and insurance coverage strongly influence access to genetic medicine. In Canada, the reality of strapped budgets means access is far from equal either. But our public health-care system means it is at least conceivable that these technologies will eventually be available to a higher proportion of people who need them.

For example, OHIP currently pays for genetic testing and counselling for a number of diseases, such as http://www.mountsinai.on.ca/care/mkbc/medical-services/genetic-testingBRCA testingEND for breast and ovarian cancer, for patients who satisfy certain eligibility criteria. It also covers a kind of genetic screening tests called non-invasive prenatal testing (NIPT) for eligible pregnant women. Precisely because of this potential for widespread adoption, there is all the greater need for broad-based conversations about genetics.

Crucially, to ensure that the largest possible cross section of society will benefit from, and not be harmed by, advances in genetic technologies, these conversations must include the voices of all communities.

This is especially true for those who, for well-justified historical reasons, may harbour deep distrust of the biomedical establishment. In the U.S., for much of the 20th century, the eugenics movement had resulted in a range of sterilization programs, discriminatory policies and scientific abuses (such as the infamous Tuskegee syphilis trials) that disproportionately targeted the poor and, especially, racial minorities such as African Americans.

While the eugenics movement might have been less established in Canada, where it did occur (e.g., the sterilization program in Alberta or the Indian hospitals in B.C.) it had most heavily affected Indigenous communities. In both countries, this shameful history has led to lower trust and usage of the health-care system by the affected communities.

As genetic medicine advances, many scientists and health researchers are pointing out the importance of having the diversity of human populations represented in genetic studies in order to gain medical insights that can benefit everyone. If we fail to fully engage these under-represented communities and ensure that genetics is not just another way to exploit and discriminate against them, then we risk worsening this historical and ongoing injustice.

New genetic technologies, such as gene editing, also bring issues of disability rights into sharper focus. While designer babies may not be an immediate concern, even the possibility of selecting and changing our offsprings characteristics raises thorny questions.

For example, what conditions count as medically necessarily to treat how about deafness, dwarfism, autism, or intersex conditions? Ultimately, it is about what kinds of people get to live, and who gets to make those decisions. Many disability rights advocates (e.g., the Down syndrome community) are already voicing concerns about what these emerging technologies mean for how their communities are seen and valued today.

We must make sure that the conversations around genetics are not only about generalized notions of safety or effectiveness, or concerns of playing God. These conversations must also encompass questions of access and justice, and acknowledge that the benefits and harms of genetic technologies, like any new technologies, are not distributed equally.

And these conversations must involve all communities (be they of different racial or ethnic background, gender or sexuality, and physical or cognitive abilities) in a way that ensures their voices are respected and heard.

This is a task that will involve concerted efforts from scientists, funders and industry, to build trust with these communities and to genuinely listen and respond to their concerns. And it will need to be done in collaboration with many partners, including schools, community and faith groups, and the art/entertainment industry.

The ability to understand and, perhaps one day, change our genetics has huge potential to improve human well-being. Lets make sure that everyone will enjoy these benefits, and that no communities are left behind, or worse yet, harmed in the process.

Johnny Kung is the director of new initiatives for the Personal Genetics Education Project (www.pged.org ) at Harvard Medical Schools Department of Genetics.

The Toronto Star and thestar.com, each property of Toronto Star Newspapers Limited, One Yonge Street, 4th Floor, Toronto, ON, M5E1E6. You can unsubscribe at any time. Please contact us or see our privacy policy for more information.

Originally posted here:

Designer babies the not most urgent concern of genetic medicine ... - Toronto Star

Genetic Medicine

Dwayne Klucheskys symptoms developed suddenly. First, unquenchable thirst.

I couldnt get enough water, he said.

He lost weight dramatically, which was odd. He had weighed more than 250 pounds, didnt exercise and wasnt dieting.

Kluchesky had seen those symptoms before, in his mother. And he was pretty certain they spelled diabetes. But he went to see his doctor anyway.

That visit six years ago confirmed his suspicions with a diagnosis of Type 2 diabetes. His blood sugar level was in the 300s far above the 80-130 that the American Diabetes Association advises before meals, and the 180 recommended for an hour or two after.

Mine was super, super high, said Kluchesky, a Twin Falls chaplain. Since then things have changed quite a bit, but I still have a hard time keeping my blood sugar down to 150 on a regular basis.

Hes not alone. The number of American adults diagnosed with diabetes has more than tripled in the past 20 years as the population has aged and gained weight. In Idaho, an estimated 100,000 adults lived with diabetes in 2015 and an estimated 84,000 with prediabetes.

The cost is extraordinary.

People with diabetes have health care costs 2.3 times greater than those without diabetes. In Idaho, diabetes and prediabetes cost an estimated $1.3 billion each year and were the sixth leading cause of death in 2014. The American Diabetes Association estimates the total cost of diabetes and prediabetes in the U.S. at $322 billion.

But unlike Type 1 diabetes, Type 2 diabetes can be prevented or delayed by eliminating risk factors such as physical inactivity, unhealthy diets and tobacco use.

Type 1 diabetes is a chronic condition in which the pancreas produces little or no insulin. People with Type 2 diabetes make insulin, but the body doesnt use it the way it should. Prediabetes is when blood sugar is higher than normal. If left untreated, it often progresses to Type 2 diabetes.

Despite that dark specter, Idaho is seeing a steady increase in overweight and obese populations, according to 2015 data from the Idaho Department of Health and Welfare. The majority of Idahoans are too heavy 35.8 percent are overweight and 26.8 percent obese.

Yet even a diabetes diagnosis might not inspire dramatic lifestyle change.

Kluchesky watches what he eats, but not always. Its just the human condition, he said. Sometimes I want ice cream, so I eat some. In the old days, I ate a half-gallon of ice cream.

Now, hell have just one scoop. Usually.

He has lost 30 pounds and now weighs 223.

Im still considered obese, but Im not morbidly obese like I was, he said. Ideally, I should be 170 or 175.

Now, at 67, Kluchesky often thinks of his mother, who had Type 2 diabetes and died at 69.

At her death, his mothers feet were black from diabetic neuropathy, a Type of nerve damage caused by diabetes. She was blind due to diabetic retinopathy, a complication caused by damage to blood vessels in the eyes.

Kluchesky often wonders how long he has left to live. He has started to lose feeling in his toes, and he cant tell how heavy his feet are signs of diabetic neuropathy.

Ive noticed in the last two years I will suddenly become out of balance, he said, that I have to take an extra step. My feet are in a state of numbness.

Klucheskys father died at 88. He wasnt diabetic, but he loved candy.

I didnt have good examples growing up, Kluchesky said. Theyd say, Eat what you want and when you want as long as you finish it all.

Hes paying the price now.

Jody Bruffett, 55, and Helen Rector, 65, held purple weights as they walked quickly around the track at the Jerome Recreation Center.

Five days a week, to help control their diabetes, the two walk for a mile, bike for 15 minutes, then row for 10 minutes. Sometimes Bruffett takes Zumba or water aerobics classes.

But there was a time Bruffett wouldnt even walk down a store aisle, let alone a track. She used a motorized cart, because her knees hurt so badly.

I was dying, she said. I was killing myself.

Bruffett has Type 2 diabetes. She was diagnosed at 32. Attending a health fair at the rec center, she decided to have basic blood work done; the tests revealed high blood sugar.

She wasnt completely shocked. Her mother is diabetic. Her grandfather was also diabetic, but they didnt figure that out until he died. And with her last pregnancy, Bruffetts blood sugar was elevated.

It was borderline at that point, Bruffett said. I had been losing weight without trying, and sometimes thats a sign also that you are becoming diabetic. I was just run-down, not having any energy.

Rector, diagnosed at age 12, has Type 1. The two have been friends for more than 20 years.

I do things with Jody, Rector said. She looks out for me.

Bruffett used to take insulin to control her diabetes, but now she can do it with exercise and pills. Rector still requires insulin, despite exercise and weight loss.

Bruffett finally started seeing her diabetes improve after she had gastric bypass surgery. Rector saw similar results after the same surgery. Rector lost 60 pounds after surgery. Bruffett lost 150.

Bruffett was overjoyed the first time she flew in a plane and didnt have to use a seat belt extender.

I had to do a lot of soul searching and investigating before, she said. I knew thats what I wanted to do.

Dr. Bob Korn, medical director of bariatrics at St. Lukes Boise Medical Center, said gastric bypass surgery has been found to cure Type 2 diabetes for at least a decade the length of time cases have been tracked.

Korn, a member of the American Society for Metabolic and Bariatric Surgery, specializes in laparoscopic gastric bypass, laparoscopic sleeve gastrectomy and laparoscopic gastric banding. All three reduce stomach size and help the body become more sensitive to insulin, which means patients dont feel hungry all the time.

We are curing approximately 60 percent of patients that come to us with Type 2 diabetes, he said.

The bariatrics program in Boise is the largest in Idaho. Seven years ago, Korn was performing fewer than 300 of these surgeries a year. Now, he and his colleagues do 600 a year, generally for patients 80 to 100 pounds overweight.

Nationally, 200,000 gastric bypass surgeries are performed a year, Korn said. They have become the most common abdominal surgery. In terms of invasiveness, he said, its comparable to having a gallbladder removed.

Why does it work?

Obesity is the pinnacle cause of Type 2 diabetes, Korn said. Obesity is contributing to the death of 300,000 people this year. These people have a rapid improvement of their diabetes over a few days.

Surgery patients can go home in two days and back to work in two weeks.

Bruffett still has 15 pounds shed like to lose, but thats where exercise and healthy eating help.

Do I feel good? she said. I feel good, and I feel healthy.

Bruffett said her biggest pitfall is carbohydrates. People dont often look at the carbs in food, and they can raise your blood sugar higher than simple sugar.

For years, Bruffett worried that her son and daughter-in-law had Type 2 diabetes. Her son once weighed about 400 pounds, and her daughter-in-law was around 360 pounds.

His father and me are diabetic, Bruffett said. Hes 28, and there is no doubt in my mind you better do something about it. You dont know how much damage has been done.

The son and daughter-in-law were tested, but the results were negative. Since then, Bruffett said, they have lost more than 50 pounds each.

Thats a relief. But she still fears they might one day experience what shes suffering.

Diabetes had already damaged nerves in Bruffetts feet when she was diagnosed. Now her feet burn. And theres no way to repair that.

For Pauline Patheal, 80, the motivation to lose weight came from a support group she found 35 years ago.

Patheal is a member of Take Off Pounds Sensibly, or TOPS, a noncommercial weight loss, education and support organization; it costs $34 a year to enroll. A group of 15 TOPS members meets weekly at Jerome Public Library.

We always have a lesson, said Patheal, who said she has wasted her time on plenty of yo-yo diets. How to eat right and take it off sensibly. They stress exercise. We are not a diet group. We dont go on crazy fad diets.

Patheal attended the international TOPS convention in Little Rock, Ark., in late July with 1,700 other people. She currently weighs 140 pounds and can go 7 pounds below or 3 pounds above her current weight and still stay on target.

At her peak weight of 199, she had hardening of the arteries and pain in her legs. Her Type 2 diabetes was also worse. She was so sick her husband of 61 years, Leroy, thought she was going to kick the bucket, he said.

Patheal slept a lot. She had diarrhea and stomachaches.

I knew something was wrong, she said.

Patheals mother and grandmother also had diabetes. They didnt know about this stuff back then, she said.

Even after losing the weight, Patheal still needs to control her diabetes with pills, portion control and exercise.

Patheal was one of eight women exercising July 26 at Jerome Senior Center. Sitting in chairs, the women balanced their feet on red, green and orange balls. Each placed one foot on top of the ball, raising her heels, then her toes. She put the ball between her heels and lifted both legs.

Classes at the senior center last 45 minutes, with the majority spent seated. Patheal has attended for 25 years.

It helps, but you have to be careful, Patheal said. You just do what you can do. Everyone does it at their own level.

On July 28, Kluchesky met a friend for breakfast. He didnt eat the whole grain his diabetes mentor would recommend. Instead, he opted for chicken-fried steak with gravy.

Instead of using sugar in his coffee, he used a substitute sweetener called Stevia. He poured in six packets.

I like sweet stuff, he said. I dont like coffee, I just like the stuff I put in it.

He usually eats a big breakfast, a smaller lunch and next to nothing for dinner.

Kluchesky takes metformin twice a day to help regulate his Type 2 diabetes.

This is like a godsend to diabetics, he said, pulling out a blue pillbox.

Kluchesky keeps track of his blood sugar in a log book. Sometimes his blood sugar reaches 80 too low and he begins sweating profusely and has tremors or shakes. He keeps a little piece of mint candy in his pocket just in case. When his sugar is high, his heart rate is fast and he feels thirsty.

Though gastric bypass surgery is an option, Kluchesky doesnt see the point. If he doesnt eat right and exercise now, not much would change after the surgery. He doesnt even do the small things his doctor tells him to do, like walking after eating.

They just keep telling me, Well, if you limit your portions, or after you eat go and walk around the block I dont do that, he said. I got a paunch on me.

I just dont have the willpower to do the right thing.

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Genetic Medicine

Designer babies the not most urgent concern of genetic medicine – Toronto Star

In this photo provided by Oregon Health & Science University, taken through a microscope, human embryos grow in a laboratory for a few days after researchers used gene editing technology to successfully repair a heart disease-causing genetic mutation. The work, a scientific first led by researchers at Oregon Health & Science University, marks a step toward one day preventing babies from inheriting diseases that run in the family.(Oregon Health & Science University via AP)

By Johnny Kung

Mon., Aug. 21, 2017

Recently, an international team of scientists successfully corrected a disease-causing gene in human embryos, using a gene editing technique called CRISPR. This has led to much excitement about the prospects of curing debilitating diseases in entire family lineages.

At the same time, the possibility of changing embryos genes has renewed fear about designer babies. The hype in both directions should be tempered by the fact that both these scenarios are some ways off a lot more work will need to be done to improve the techniques safety and efficacy before it can be applied in the clinic.

And because a lot of diseases, as well as other physical and behavioural characteristics, are controlled by the complex interaction of many genes with each other and with the environment, in many cases simple genetic fixes may never be possible.

But while the technology is still in early stages, now is the time to have frank, open and societywide conversations about how gene editing should be moving forward and genetic medicine more broadly, including the use of advanced genetic testing and sequencing to diagnose disease, personalize medical treatments, screening babies, etc.

We must raise broad awareness of the health benefits as well as the personal, social and ethical implications of genetics. This is important for individuals both to understand their options when making decisions about their own health care, and to participate as informed citizens in democratic deliberations about whether and how genetic technologies should be developed and applied.

In the U.S., affordability and insurance coverage strongly influence access to genetic medicine. In Canada, the reality of strapped budgets means access is far from equal either. But our public health-care system means it is at least conceivable that these technologies will eventually be available to a higher proportion of people who need them.

For example, OHIP currently pays for genetic testing and counselling for a number of diseases, such as http://www.mountsinai.on.ca/care/mkbc/medical-services/genetic-testingBRCA testingEND for breast and ovarian cancer, for patients who satisfy certain eligibility criteria. It also covers a kind of genetic screening tests called non-invasive prenatal testing (NIPT) for eligible pregnant women. Precisely because of this potential for widespread adoption, there is all the greater need for broad-based conversations about genetics.

Crucially, to ensure that the largest possible cross section of society will benefit from, and not be harmed by, advances in genetic technologies, these conversations must include the voices of all communities.

This is especially true for those who, for well-justified historical reasons, may harbour deep distrust of the biomedical establishment. In the U.S., for much of the 20th century, the eugenics movement had resulted in a range of sterilization programs, discriminatory policies and scientific abuses (such as the infamous Tuskegee syphilis trials) that disproportionately targeted the poor and, especially, racial minorities such as African Americans.

While the eugenics movement might have been less established in Canada, where it did occur (e.g., the sterilization program in Alberta or the Indian hospitals in B.C.) it had most heavily affected Indigenous communities. In both countries, this shameful history has led to lower trust and usage of the health-care system by the affected communities.

As genetic medicine advances, many scientists and health researchers are pointing out the importance of having the diversity of human populations represented in genetic studies in order to gain medical insights that can benefit everyone. If we fail to fully engage these under-represented communities and ensure that genetics is not just another way to exploit and discriminate against them, then we risk worsening this historical and ongoing injustice.

New genetic technologies, such as gene editing, also bring issues of disability rights into sharper focus. While designer babies may not be an immediate concern, even the possibility of selecting and changing our offsprings characteristics raises thorny questions.

For example, what conditions count as medically necessarily to treat how about deafness, dwarfism, autism, or intersex conditions? Ultimately, it is about what kinds of people get to live, and who gets to make those decisions. Many disability rights advocates (e.g., the Down syndrome community) are already voicing concerns about what these emerging technologies mean for how their communities are seen and valued today.

We must make sure that the conversations around genetics are not only about generalized notions of safety or effectiveness, or concerns of playing God. These conversations must also encompass questions of access and justice, and acknowledge that the benefits and harms of genetic technologies, like any new technologies, are not distributed equally.

And these conversations must involve all communities (be they of different racial or ethnic background, gender or sexuality, and physical or cognitive abilities) in a way that ensures their voices are respected and heard.

This is a task that will involve concerted efforts from scientists, funders and industry, to build trust with these communities and to genuinely listen and respond to their concerns. And it will need to be done in collaboration with many partners, including schools, community and faith groups, and the art/entertainment industry.

The ability to understand and, perhaps one day, change our genetics has huge potential to improve human well-being. Lets make sure that everyone will enjoy these benefits, and that no communities are left behind, or worse yet, harmed in the process.

Johnny Kung is the director of new initiatives for the Personal Genetics Education Project (www.pged.org ) at Harvard Medical Schools Department of Genetics.

The Toronto Star and thestar.com, each property of Toronto Star Newspapers Limited, One Yonge Street, 4th Floor, Toronto, ON, M5E1E6. You can unsubscribe at any time. Please contact us or see our privacy policy for more information.

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Designer babies the not most urgent concern of genetic medicine - Toronto Star

Comprehensive genomic analysis offers insights into causes of Wilms tumor development – Medical Xpress

August 21, 2017 Credit: CC0 Public Domain

A comprehensive genomic analysis of Wilms tumor - the most common kidney cancer in children - found genetic mutations involving a large number of genes that fall into two major categories. These categories involve cellular processes that occur early in kidney development. The study, published in Nature Genetics, offers the possibility that targeting these processes, instead of single genes, may provide new opportunities for treatment of Wilms tumor.

"It is very difficult to therapeutically target over 40 genes that may be mutated in Wilms tumor," said senior author Elizabeth Perlman, MD, from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago. "We discovered that many of these genetic mutations converge into two developmental pathways that lead to cancer. Early development of the kidney starts with rapid proliferation of undifferentiated cells. Within these cells, a signal triggers a switch to undergo differentiation into the normal cells of the kidney. In Wilms tumors, one set of mutations promotes abnormal and continued proliferation of the undifferentiated cells. A second set of mutations impacts the differentiation switch itself. Targeting these two different pathways in future studies might be more efficient than targeting individual gene mutations."

Perlman is the Head of the Department of Pathology and Laboratory Medicine at Lurie Children's and a Professor of Pathology at Northwestern University Feinberg School of Medicine. She is the Arthur C. King Professor of Pathology and Laboratory Medicine.

In the study, Perlman and colleagues in the Children's Oncology Group and the National Cancer Institute initially identified all genetic mutations in 117 Wilms tumor cases. Then they focused on a set of genetic mutations that occurred in more than one case and conducted a targeted analysis of these recurrent mutations in 651 Wilms tumors to validate the results. They found that the most common genes mutated in Wilms tumor were TP53, CTNNB1, DROSHA, WT1 and FAM123B.

In an unexpected finding, Perlman and colleagues also identified underlying germline mutations - or mutations in all the cells of the body - in at least 10 percent of Wilms tumor cases. "Our discovery of germline mutations in so many cases of Wilms tumor means that the children and family members of these patients may be at risk for tumor development," said Perlman.

Explore further: Researchers find new gene mutations for Wilms Tumor

More information: A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. Nature Genetics (2017). DOI: 10.1038/ng.3940

Journal reference: Nature Genetics

Provided by: Ann & Robert H. Lurie Children's Hospital of Chicago

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Comprehensive genomic analysis offers insights into causes of Wilms tumor development - Medical Xpress

Genomic Revolution is Here: What an Insurance Professional Needs to Know – Corporate Wellness Magazine

Genomic Revolution is Here: What an Insurance Professional Needs to Know

Dr. Phil Smalley

Is genetic testing ready for prime time use in employee benefits and insurance products? We think so, albeit with some caveats. Other expert opinions are mixed regarding this question, but one thing is for sure, this field of medicine is growing in leaps and bounds. New genetic discoveries are published weekly leading to new treatments, better disease prevention, less drug side effects, and overall improved public health. And actually, genomics is already being used in clinical practice in certain settings as mandated by various professional association clinical guidelines. Some innovative insurance companies have started to offer genetic testing of various forms to their insurance clients and as part of employee health programs in the US and around the world.

The cost of various genetic tests ranging from USD $200 to $5000 is one of the commonly quoted reasons why doctors and patients avoid needed genetic tests. One study of lung cancer patients showed that 41% of patients did not follow the recommended clinical guidelines for genetic testing. They mention uncertainty regarding cost reimbursement as one of the barriers to ordering these tests. (1) This is where genomic based products can play an important role at the time of cancer diagnosis as an employee benefit.

In these next 10 monthly articles, we will explore the topic of genomics as we discuss genetic basics, use of genetics in cancer management, pharmacogenomics, screening with liquid biopsies and disease risk stratification. Because I am a medical doctor working in the insurance industry and not a geneticist, I hope to present a different point of view on this important topic from a practical insurance perspective. We will show you the benefits of incorporating genetic tests of various types into employee benefits and in other insurance products. The emphasis of our work is more in the post-policy issue space rather than entering the political, ethical and regulatory whirlwind surrounding genetic testing at the time of underwriting. Our goal through these articles is to give the insurance professional 5 or 6 key talking points to make the sale to insurance companies and employers on the benefits of genetic testing services. Equally important, these articles will cover some of the challenges associated with going down this road and discuss ways to overcome these obstacles.

In the spirit of full disclosure, I am writing on behalf of a new genetic testing service intermediary, Wamberg Genomic Advisors (WGA) who stand at the crossroads of the insurance and genetic testing industries. They use their collective knowledge and expertise to guide insurance clients in their successful adaptation of this new genetics technology to improve their employees health, to increase sales, maximize return on investment and improve public health and longevity.

A 2016 Harvard T.H. Chan School of Public Health survey reports that 6% of the US population has had some form of genetic testing done and 81% found the information useful. (2) Presently, clinical doctors mostly order genetic tests in patients who have a strong family history of disease or when the patient has symptoms and the genetic test is performed to diagnose a condition or to help decide upon the most appropriate form of treatment. But with the price of genetic testing falling precipitously, we have seen a rapid increase in public access to genetic testing either through their doctor, employee health programs or via direct to consumer genetic testing kits. Insurance companies will need to adapt to this possible asymmetry of information that could lead to anti-selection.

In next months September article, we will get into the real meat of this topic. We will discuss the basics of genetics, the different types of genetic tests and their accuracy. We will cover the benefits of genetic tests and get into some practical example uses of genomics in corporate wellness programs, voluntary benefits and in other insurance products.

I invite you to answer this anonymous one question online survey and see what others think about genetic testing. Also, post your comments and opinions in the comments section below as we start this open discussion.

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Dr. Phil Smalley is an Internal Medicine specialist with 27 years of experience in insurance medicine. He recently retired from his position as Senior Vice Presidentand Global Chief Medical Officer for RGA International Corporation. Dr. Smalley received his medical degree from the University of Toronto, Canada. He is aFellow of the Royal College of Physicians and Surgeons of Canada and Past President of the Canadian Life Insurance Medical Officers Association. Dr. Smalleywas also Managing Director of the Longer Life Foundation, the not-for-profit research partnership between RGA and Washington University School of Medicine. Dr. Smalley currently lives in Toronto consulting for the insurance industry and is Chief Medical Director for Wamberg Genomic Advisors.

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Genomic Revolution is Here: What an Insurance Professional Needs to Know - Corporate Wellness Magazine

Many breast, ovarian cancer survivors should take this genetic test – 89.3 KPCC

More than 1 million American women who have had breast or ovarian cancer are not getting a simple genetic test that will determine whether they carry a mutation that puts them at higher risk of a recurrence, according to a UCLA study published Friday.

Up to 10 percent of women who have, or have had, breast cancer, and up to 15 percent of those with a history of ovarian cancer, carry inheritable mutations that put them at higher risk of the cancer returning, says the study, which was published Friday in the Journal of Clinical Oncology.

The test to detect the mutations involves taking blood or saliva, but the study found that 70 percent of eligible breast cancer patients and 80 percent of patients with ovarian cancer have never taken the initial step of discussing testing with their health care provider.

"We want to figure out who are the women in this country that have those genetic changes," says lead author Dr. Christopher Childers, a resident physician at UCLA's David Geffen School of Medicine. That information, he says, can inform decisions about their treatment and surgery. It can also help family members detect cancer early and make lifestyle changes to try to prevent the disease.

National Cancer Center Network guidelines recommend genetic testing for women in these categories:

The study, based on surveys of more than 47,000 women nationwide, asked whether women were discussing the test or had taken it. It did not assess why patients aren't discussing or undergoing testing, but Childers says both providers and patients must play a role in closing the gap. He says all providers should ask women about their cancer history, inquire about prior genetic testing and be aware of the latest testing guidelines.

"Genetic testing is not just something that is under the care of an oncologist, it's something that all health care providers, from surgeons to primary care doctors to cardiologists, should be thinking about when we see patients with a history of cancer," he says.

Patients with a history of breast or ovarian cancer should see their doctors and inquire about genetic testing, even if they were diagnosed many years earlier, says Childers. The mutations detected by the test can affect the BRCA1 and BRCA2 genes. Tests for the mutations have been around since the mid-1990s, but science, testing guidelines and test availability have evolved since then.

"It's not something that you can just assume was taken care of when you had the diagnosis five or 10 years ago," he says. "This is something that is as important 10 years, 20 years, 30 years after your cancer, because it can not only affect your own health, but can also affect the health of your family members."

From her experience as a genetic counselor at Providence Health & Services Southern California, study co-author Kimberly Childers says some patients want to know the potential risks for themselves and their family so they can take steps to prevent future cancers, while others say ignorance is bliss.

Those patients typically say, "I'd rather just see what happens and not worry about it, and if something happens, I'll deal with it when it happens," says Childers, who is married to the study's lead author. She notes that testing might not be right for these people.

On the flip side, Kimberly Childers also sees women who have breast cancer in their history, but learn through testing that they didnt inherit the gene mutation.

"While our focus is on identifying those at risk who can benefit from early prevention and detection, it also can help give people peace of mind who might be living with a cancer cloud," she says.

The genetic test is covered by Medicare, Medi-Cal and most private insurance plans, says Kimberly Childers.

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Many breast, ovarian cancer survivors should take this genetic test - 89.3 KPCC

Blood Biopsy Reveals Unique, Targetable Genetic Alterations in Patients with Rare Cancer – UC San Diego Health

Using fragments of circulating tumor DNA in blood, University of California San Diego School of Medicine researchers were able to identify theoretically targetable genetic alterations in 66 percent of patients with cancer of unknown primary (CUP), a rare disease with seven to 12 cases per 100,000 people each year.

In order to plan treatment for cancer in general, physicians first attempt to pinpoint the primary cancer where the tumor first developed. In CUP, despite its spread throughout the body, the origin remains unknown, making treatment more difficult. The current standard of care is platinum-based combination chemotherapies with a median survival time of six to eight months.

Razelle Kurzrock, MD, director of the Center for Personalized Cancer Therapy at Moores Cancer Center at UC San Diego Health.

In a study published in the journal Cancer Research on August 15, researchers report that by sequencing circulating tumor DNA (ctDNA) derived from blood samples in 442 patients with CUP, they were able to identify at least one genetic alteration linked to cancer in 290 66 percent of patients. Researchers used a screening test developed by Guardant Health that evaluates up to 70 genes. Based on known carcinogenic mutations, 99.7 percent of the 290 patients who had detectable tumor DNA in their bloodstream had genomic alterations that could hypothetically be targeted using existing FDA-approved drugs (as off-label use) or with therapies currently under investigation in clinical trials.

By definition, CUP does not have a definite anatomical diagnosis, but we believe genomics is the diagnosis, said Razelle Kurzrock, MD, director of the Center for Personalized Cancer Therapy at Moores Cancer Center at UC San Diego Health and senior author. Cancer is not simple and CUP makes finding the right therapy even more difficult. There are multiple genes and abnormalities involved in different areas of the body. Our research is the first to show that evaluating circulating tumor DNA from a tube of blood is possible in patients with CUP and that most patients harbor unique and targetable alterations.

A blood or liquid biopsy is a diagnostic tool based on the idea that critical genetic information about the state of disease can be found in blood or other fluids. One vial of blood could be used to detect the onset of disease, monitor its progression and measure its retreat less invasively than a tissue biopsy.

Shumei Kato, MD, assistant professor of medicine at UC San Diego School of Medicine.

Another advantage of the liquid biopsy is that the location of the cancer does not matter, said Shumei Kato, MD, assistant professor of medicine at UC San Diego School of Medicine and first author. With a blood sample, we can analyze the DNA of tumors throughout the body to find targetable alterations. With tissue biopsies, we can only see genomic changes that are in that one site and that may not be the same as what is in different sites not biopsied, such as the lung or bone.

Liquid biopsies are relatively simple to get and can be obtained regularly to monitor changes over time, as was the case with a 60-year-old woman with CUP. Her case, which was evaluated by Brian Leyland-Jones, MB, BS, PhD and study co-author with colleagues at Avera Cancer Institute, was described in the study to show the changes observed in ctDNA over the course of her treatment.

What we saw was that the patient was responding to treatment, but the cancer had emerging new mutations, said Kurzrock. Whats new here is that we can do the same evaluation through a blood test that we previously could only do with a tissue sample. You will see these changes with a simple blood test and it is easy to repeat blood tests, but hard to repeat tissue biopsies.

The study also reported the case of an 82-year-old man who was prescribed a checkpoint inhibitor immunotherapy as part of his treatment because of a mismatch repair gene anomaly that is typically observed in less than two percent of patients. He showed a partial response within eight weeks and blood biopsies showed the tumor DNA disappearing.

We can see that each patient has different mutations in their tumor DNA, which means that treatment plans cannot be a one-size-fits-all approach; a personalized approach is needed, said Kato.

Kurzrock is already using liquid biopsy technology in the Profile Related Evidence Determining Individualized Cancer Therapy (PREDICT) clinical trial a project focusing on the outcome of patients who have genomic testing performed on their tumors and are treated with targeted therapy.

The authors suggest that a liquid biopsy approach should be further investigated in next-generation clinical trials focusing on CUP.

Co-authors include: Nithya Krishnamurthy, Scott M. Lippman, UC San Diego; Kimberly C. Banks, Richard B. Lanman, Guardant Health, Inc.; Pradip De, Kirstin Williams, and Casey Williams, Avera Cancer Institute.

This research was funded, in part, by the National Cancer Institute (P30 CA016672) and the Joan and Irwin Jacobs fund.

Disclosure: Razelle Kurzrock receives consultant fees from X-biotech and from Actuate Therapeutics, as well as research funds from Genentech, Pfizer, Sequenom, Guardant, Foundation Medicine and Merck Serono, and has an ownership interest in Novena Inc. and CureMatch Inc.

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Blood Biopsy Reveals Unique, Targetable Genetic Alterations in Patients with Rare Cancer - UC San Diego Health

What can genetic testing really tell you? – Popular Science

Once difficult and expensive even for the most technologically advanced labs, genetic testing is fast becoming a cheap and easy consumer product. With a little spit and 200 dollars, you can find out your risk for everything from cystic fibrosis to lactose intolerance.

But its important to remember that not all genetic tests are created equal. And even the best clinical genetic test, carried out in a medical lab under a doctor's supervision, isn't perfectgenes are important, but they don't seal your fate.

Genetic tests are diagnostic, so anyone who is curious about their health can get one done. But they're more informative if you think you might be at risk for a genetic disorder.

Heavy-duty genetic tests have been used as a clinical tool for almost half a centurylong before 23andMe and Ancestry.com began offering direct-to-consumer tests. Lets say that many women in your family have had breast cancer. You can get a genetic test to see if you may have inherited an abnormal version of the BRCA gene, known to increase your risk for breast cancer.

Heidi Rehm, associate professor of pathology at Harvard Medical School, is the director of the Laboratory for Molecular Medicine, where patients get tested for diseases that can be traced to specific genetic roots. She says it is most common for people to get tested when they either suspect or know that they have a genetic disease; it may have affected multiple people in their family or they could show symptoms of something widely known to be genetic, like sickle cell anemia. For these people, genetic tests can provide a much-needed explanation for an illness and help doctors determine the best course of treatment. Babies are often tested for genetic diseases, either while they are still fetuses or shortly after birth.

Others get genetic tests if they and their partner both have family histories of an inherited diseaseeven if they dont have the disease themselves. For example, cystic fibrosis is linked to one particular gene, but you have to inherit the abnormal version of the gene from both your parents to get the disease. If you only inherit one copy, you may never knowyou wont display any of the symptoms. But if you and your partner both carry one copy of the faulty gene, your child could still inherit two copies. Genetic tests can forewarn you of that possibility.

But Rehm says there has been a recent trend of healthy people getting tested to predict whether theyll get certain diseases. I do think there are settings where predictive genetic testing is incredibly important and useful, Rehm says; for example, knowing that youre at risk for breast cancer gives you the opportunity for early intervention (remember when Angelina Jolie got a double mastectomy upon finding out she had a mutated BRCA gene?)

But Rehm also points out that genetic tests may not be as straightforward as they seem. For example, some genes are thought to increase risk of getting a certain disease, but it might only happen if you have specific family history, or you might be able to reduce your risk with lifestyle changes. So remember that a genetic test isnt the final verdictthere are other factors at play too.

Not entirelyits scope is limited. For starters, not all diseases are caused by genes. Plenty of conditions stem from environmental and lifestyle factors; they may interact with your genes, but the external factors are the real trigger.

But even if a disease is caused solely by faulty instructions written in your genes, you wont necessarily be able to test for it. Thats because genetic tests are mainly used for diseases that are penetrant, a term that scientists use to describe a strong connection between having a certain gene (or multiple genes) and getting a disease.

Genetic tests are surprisingly simple on the surface. All thats required of you is a small sample of cells, like a blood sample or saliva (which doesnt have DNA itself, but picks up cheek cells during its journey out of your mouth). It get sent to a lab where sequencing machines match up small pieces of synthetic DNA with your DNA to figure out the overall sequence.

Once they have your sequence, geneticists can compare it with "normal" or disease-causing sequences. In the end, they might give you a yes or no answer, or sometimes youll get a probabilitya measure of how much your genes increase your risk of developing the disease. Then, its up to your doctor to figure out what these genes (in combination with your lifestyle, family history and other risk factors) mean for your health.

With penetrant diseases, theres a very, very high ability to explain the disease, Rehm says. For example, the breast cancer-related gene BRCA1 can give you a 60 percent chance of getting breast cancer (in Jolies case, with her family history, the risk was 87 percent.)

This makes genetic tests better at detecting so-called rare diseases, says Steven Schrodi, associate research scientist at the Marshfield Clinic Research Institutes Center for Human Genetics, but theyre less useful when it comes to more common diseases, like heart disease or diabetes. Genetics can increase your likelihood of getting these disease, but scientists still dont know quite how much. Part of the problem is that there may be dozens or hundreds of genes responsible for these diseases, Schrodi says.

We have an incomplete understanding of why people get diseases, Schrodi says. A large part of it hinges on how we define diseases. Perhaps physicians have inadvertently combined multiple diseases together into a single entity.

Consumer genetic teststhe ones where you send in samples from homesometimes claim to test for these more complex traits, but be careful: Their results might not be very medically relevant, Rehm says. If they tell you that your genes make you twice as likely to develop diabetes, for example, that's a marginal increase that doesn't significantly affect your risk, especially when you take into account lifestyle factors.

Genes do seem to play a role in determining lifespan. After all, some family reunions stretch from great-great-grandparents all the way down to infants. Scientists have studied centenarianspeople who lived to be 100 years oldand found that people with certain versions of genes involved in repairing DNA tend to live longer.

This makes sense because aging leaves its mark on your DNA. Environmental factors can damage DNA, and even the routine chore of replicating cells can introduce errors as the three billion units of your DNA are copied over and over. Long-lived individuals have different sequences that seem to make their cells better at keeping DNA in mint condition.

But figuring out your expiration date is more complex than just testing for a few genes, says Jan Vijg, professor of genetics at Albert Einstein College of Medicine. In theory, you could design a test that looks at specific genes that might measure your risk for developing Alzheimers Disease or other age-related diseases, or your risk for aging quickly. To some extent, yes: Biomarkers will tell you something about your chances of living a long life, Vijg says. Still, that will only work if you live a careful life. And that means no accidents, infections, or cancers.

Aging also affects the exposed ends of your DNA, called "telomeres." DNA is stored as chromosomes, those X-like structures that you may have seen in biology textbooks. The most vulnerable parts of the chromosome are the chromosomes tips, which get shorter as you age because they arent properly replicated. But while telomere length might let you compare your DNA now with your DNA from a decade ago, you cant compare your own telomeres with other peoples telomeres. Theres a lot of variation between individuals, Vijg says. Some of us are just old souls (on the genomic level, that is.)

The methylation test, which looks at how the presence of small chemical groups attached to your DNA changes as you age, might be a better bet. A study at UCLA showed that changes were slower in longer-lived people. But Vijg is hesitant: I would not put my hopes on that as a marker to predict when exactly youre going to die.

For now, just enjoy your life, because you cant predict death. And if you decide to unlock the secrets of your DNA with an at-home test, don't take those results for more than their worth.

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What can genetic testing really tell you? - Popular Science

Active non-coding DNA might help pinpoint genetic risk for psychiatric disorders – Medical Xpress

August 16, 2017 by Anna Williams Northwestern Medicine scientists used induced-human neurons (pictured here in green) derived from patient stem cells. The synaptic proteins, or connections, are marked in cyan and red. Credit: Northwestern University

Northwestern Medicine scientists have demonstrated a new method of analyzing non-coding regions of DNA in neurons, which may help to pinpoint which genetic variants are most important to the development of schizophrenia and related disorders.

Peter Penzes, PhD, the Ruth and Evelyn Dunbar Professor of Psychiatry and Behavioral Sciences, was a lead author of the study, published in the journal Cell Stem Cell. Marc Forrest, PhD, a post-doctoral fellow in Penzes' laboratory, was the first author.

Over the last decade, large genetic studies have identified thousands of genetic variants associated with mental disorders. Most of these risk variants, however, are found within non-coding regionsparts of DNA that do not encode for proteinswhose function in disease development has been poorly understood.

"Ten years ago, there was very little known about the genetic basis of mental disorders like schizophrenia. Now the problem is the opposite: we have too many genes," Penzes said. "Studying each variation one by oneand how it contributes to actual diseaseis difficult, so methods to reduce that number can be very useful. And that's what this study did."

The scientists demonstrated that by mapping out open chromatin regions in neurons derived from human stem cells, they could identify active non-coding DNA that contain a key subset of psychiatric risk variants that are most relevant to disease.

While the model was demonstrated in schizophrenia, the same method could be applied to other mental disorders as well, such as autism spectrum disorders or bipolar disorder.

Developing such a technique is critical to help scientists in the field concentrate their efforts on investigating the most important variants.

The findings also deepen the overall understanding of how such non-coding regions affect disease.

As a case study, the scientists used the new model to analyze thousands of risk variants that have been associated with schizophrenia and narrowed it down to a small list of key variants, of which they chose one to investigate.

They then used the gene-editing tool CRISPR to alter that risk variant into a variant not associated with disease, and demonstrated that the change had an effect on the connectivity of the cell, suggesting it played a role in neurodevelopment.

"In the past, these non-coding regions have been called 'junk DNA' because there was this misconception that they had no function," Forrest said. "With this kind of technique, we're starting to understand how non-coding regions can affect disease risk, even if they have more indirect roles than the actual protein-coding regions."

In the future, the model using human neurons from induced stem cells could also serve as a valuable tool to screen potential drugs for such disorders, and discover which ones result in changes in the neuronal phenotype, Penzes said.

Explore further: Defect in non-coding DNA might trigger brain disorders such as severe language impairment

More information: Marc P. Forrest et al. Open Chromatin Profiling in hiPSC-Derived Neurons Prioritizes Functional Noncoding Psychiatric Risk Variants and Highlights Neurodevelopmental Loci, Cell Stem Cell (2017). DOI: 10.1016/j.stem.2017.07.008

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Active non-coding DNA might help pinpoint genetic risk for psychiatric disorders - Medical Xpress

Sports medicine doctor on how to combat knee arthritis symptoms – CBS News

A new study found osteoarthritis of the knee is more than twice as common as it was just a few generations ago. It's estimated that the lifetime risk of developing this condition is 46 percent.

However, it is possible to protect your knees and even reverse some of the symptoms. Dr. Jordan Metzl, a sports medicine physician at New York's Hospital for Special Surgery, joined "CBS This Morning" to discuss what might be causing the increase and what you can do to reduce arthritic symptoms.

Asked what people are doing wrong when it comes to arthritis, Metzl said, "They're not recognizing the symptoms of arthritis."

The first thing to do if you are having symptoms, Metzl said, is to get an X-ray, which will show if there is a "narrowing between the bones."

Metzl also credits the inactivity of modern life. "If you were alive 100 years ago, you walked more, you were much more active," Metzl said.

"As this study shows us, the incidence of arthritis, the prevalence has more than doubled in the past hundred years and there are some different reasons for why that may be including people living longer and having higher weights but also related to activity," Metzl said.

X-rays of what a healthy knee versus an arthritic knee looks like.

CBS News

To reduce symptoms, he says the best thing to do is strengthen your muscles with exercises like squats and lunges instead of saying off of the knee and, in effect, becoming more inactive.

"We want them to be very active. When they get arthritis I get them started on exercise, strengthening," Metzl said.

While he says the wrong shoes can play a part in making symptoms worse, they don't necessarily cause arthritis.

"I think the shoes may be part of making the symptoms worse. I don't think it really has a lot to do with the reasons people get arthritis which are probably genetic, longevity, body index and then maybe inactivity but once you have arthritis we do a lot to control your symptoms," Metzl said.

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Studying How Genes, Environment Contribute to Juvenile Arthritis – UB School of Medicine and Biomedical Sciences News

James N. Jarvis, MD, is conducting a study of the gene-environment paradigm for juvenile idiopathic arthritis pathogenesis.

Published August 14, 2017

James N. Jarvis, MD, clinical professor of pediatrics, will use an Arthritis Foundation grant to study how genes and environment work together to influence the immune dysfunction in juvenile arthritis.

After asthma, juvenile idiopathic arthritis (JIA) is the most common chronic disease condition in children. While genetics play a small role in the disease, environmental factors are also known to be important.

The study, titled Interplay Between Genetics and Epigenetics in Polyarticular JIA, builds upon previous work by Jarvis and his fellow researchers.

The epigenome refers to the features of DNA and the proteins that DNA is wrapped around that do not control the genetic makeup of a person but do influence how cells respond to the environment, says Jarvis, principal investigator on the grant.

Specifically, the epigenome determines what genes a cell will turn on or turn off in response to environmental cues, he notes.

Like most complex traits, genetic risk for JIA is principally located within non-coding regions of the genome.

Our preliminary studies present the hope that we can finally understand the gene-environment paradigm for JIA pathogenesis, Jarvis says.

Rather than regarding JIA as an autoimmune disease, triggered by inappropriate recognition of a self protein by the adaptive immune system, Jarvis hypothesizes that JIA emerges because leukocytes suffer genetically and epigenetically mediated perturbations that blunt their capacity to regulate and coordinate transcriptions across the genome.

This loss of coordinate regulation leads to inappropriate expression of inflammatory mediators in the absence of the normal external signals typically required to initiate or sustain an inflammatory response, he says.

Our field has been dominated by a single hypothesis for JIA pathogenesis for 30 years, Jarvis notes. However, as the field of functional genomics becomes increasingly wedded to the field of therapeutics, our work carries the promise of completely new approaches to therapy based on a completely different paradigm of pathogenesis.

The researchers are recruiting 30 children with newly diagnosed polyarticular JIA for its study to survey the epigenome and CD4+ T cells in them and compare the results with findings in 30 healthy children.

We plan to build a multidimensional genomic map that surveys the functional epigenome, examines underlying genetic variation and examines the effects of genetic and epigenetic variation on gene expression, Jarvis says.

He notes the work will focus on CD4+ T cells because the researchers have already identified interesting interactions between their epigenome and transcriptome in the context of therapeutic response in JIA.

Because the epigenome is the medium through which the environment exerts its effects on cells, Jarvis believes that characterizing the epigenome in pathologically relevant cells, ascertaining where epigenetic change is linked to genetic variation and determining how genetic and epigenetic features of the genome regulate or alter transcription is the key to truly understanding this disease.

This project addresses a question that parents always ask, which I never thought wed begin to answer in my lifetime: What causes JIA? This study wont provide the whole answer, but it will go a long way toward taking us there, he says.

The project has three specific aims:

The two-year, $730,998 grant is part of the Arthritis Foundations 2016 Delivering on Discovery awards. It was one of only six projects out of 159 proposals chosen for funding. For the first time, arthritis patients helped the foundation select projects.

Including patient input as part of the selection process was a new milestone in patient engagement for the Arthritis Foundation and allowed us to select projects that hold the most promise from an arthritis patients point of view, says Guy Eakin, senior vice president, scientific strategy.

Collaborators from the Jacobs School of Medicine and Biomedical Sciences are:

Other collaborators include researchers from the Childrens Hospital of Philadelphia.

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First human embryo genetically modified in the US – Dailyuw

Researchers from Portland, Ore. genetically modified human embryos for the first time on American soil, but this is not a new feat. The process has already been done in China. To date, no genetically modified embryo has been inserted into a womb.

The lead researcher, Shoukhrat Mitalipov of Oregon Health and Science University, has a history of embryo work and demonstrated this round that its possible to safely remove inherited diseases by changing defective genes. This is called germline engineering. However, none of the embryos were allowed to last longer than a few days and the results are still pending publication.

Germline engineering typically uses CRISPR-Cas9, technology which precisely alters DNA. CRISPR stands for Clustered Regularly Interspaced Short Palindromic Repeats.

At its roots, CRISPR is comprised of a small piece of RNA and a protein called Cas9. The RNA is preprogrammed to match a specific genetic code to then subsequently alter a specific strand of DNA once injected. The RNA guides the injection, and Cas9 tags along because, as an enzyme, it is able to break the DNA at an exact spot.

The challenge is that DNA tends to repair itself pretty fast. To avoid this, some CRISPR injections carry another strand of DNA the cell can use to fix the break thats created, therefore allowing genetic alterations.

The implications are very large, Dr. Charles Murry, Director of the UW Medicines Institute for Stem Cell and Regenerative Medicine, said. It gives us the ability to permanently eradicate a genetic disease from a familys pedigree. And as a physician, thats something thats extremely exciting to me.

Genetic modifications have been around for decades, and CRISPR has applied since early 2013. The possibilities for CRISPR were first realized through a natural bacterial process that defends against invasive viruses also known as this all started with yogurt, surprise.

However, the real breakthrough happened in 2015 with Junjiu Huangs first human embryo edits in China. Scientists are also looking at this system to eliminate pests and the diseases they carry.

Theres another side to it of course, Murry contended. When humans begin to rewrite our own genetic code, and there are all kinds of chances to not only make corrections as we edit but to make new mistakes as we edit we may inadvertently create problems in the attempt to solve others.

UW Health Sciences and Medicine public information editor Leila Gray said UW Medicine researchers are using CRISPR on specific somatic cells, which are the ones that make up your body. These cells were collected from patients with their approval. One team, for example, is trying to edit cells with kidney disease, studying certain conditions in petri dishes. But no UW researcher is reporting work to remove genetic diseases from human embryos.

Currently, the National Institutes of Health wont federally fund this research. However, the National Academy of Sciences and the National Academy of Medicine are recommending cautious reconsideration.

Murry predicts that before any of this would apply to a human being, a large animal would have to successfully carry to term a genetically modified embryo. Scientists would also likely have to monitor the newborns life afterward.

There are ethical conundrums with this new technology. Its so concerning that upon its first big embryonic debut, there was a three-day summit in December 2015 for hundreds of local and global scientists, policymakers, and the US presidential science adviser.

Some worry genetic engineering could lead to a dark future where humans are pre-edited for appearance, physical strength, or intelligence.

George Church, a Harvard Medical School geneticist, first told the Washington Post two years ago that there were nearly 2,000 genetic therapy trials already underway that didnt use CRISPR. The difference between those and the few that have is cost.

Its about 1,000 times cheaper for an ordinary academic to do, Church is quoted in the article. It could be a game-changer.

Reach reporter Kelsey Hamlin at news@dailyuw.com. Twitter: @ItsKelseyHamlin

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First human embryo genetically modified in the US - Dailyuw

Researchers find genetic precursors of leukemia in patients treated for non-blood cancers – Medical Xpress

August 14, 2017 Catherine Coombs, MD, is an associate member at UNC Lineberger and assistant professor in the UNC School of Medicine.

In a study of nearly 9,000 people treated for solid tumor cancers, researchers found that radiation treatment and tobacco use were linked to higher rates of blood-based DNA mutations that could lead to higher risk for blood cancers like leukemia.

The study, published in the journal Cell Stem Cell, revealed new risk factors for "clonal hematopoiesis," a medical phenomenon in which genetic mutations are found in the blood cells of patients who do not have an existing blood cancer. Twenty-five percent of the patients in the study had clonal hematopoiesis. Of the subset of patients they actively followed, those with clonal hematopoiesis had a small 1 percent but increased, estimated incidence of developing blood cancer later on.

"The presence of clonal hematopoiesis can lead to an increased risk for subsequent blood cancers," said UNC Lineberger's Catherine Coombs, MD. "We wouldn't recommend forgoing treatment that is medically indicated because the risk of a secondary cancer is relatively low, but it is important to closely watch those patients who are high-risk."

Coombs was first author of the study at the Memorial Sloan Kettering Cancer Center in New York, where she completed a fellowship in oncology before coming to UNC Lineberger. The study analyzed genetic changes from 8,810 MSK cancer patients. The researchers found clonal hematopoiesis in 25 percent of patients, with the highest incidence in patients with thyroid cancer, and the lowest in patients with germ cell tumors. Mutations were more common in older people, with the odds of clonal hematopoiesis increasing 6 percent for each decade above age 30. Clonal hematopoiesis was also strongly associated with current or former tobacco use.

"A major risk factor for developing clonal hematopoiesis that can be modified or changed is tobacco use," Coombs said.

They also found a higher frequency of patients with clonal hematopoiesis who had received radiation therapy. Forty-one percent of patients with clonal hematopoiesis received radiation, compared to 35 percent of patients who did not have clonal hematopoiesis, and had received radiation.

Risk for developing a secondary blood cancer was very small in the patient population overall. Only 19 out of the 5,394 patients the researchers actively followed developed a new blood cancer within 18 months. However, for patients who did get a blood cancer, the risk was higher for patients who had clonal hematopoiesis. One percent of patients with clonal hematopoiesis were estimated to develop a secondary cancer, which was three times higher than the estimated 0.3 percent for patients who developed blood cancer and did not have clonal hematopoiesis.

"This has been borne out by other groups: if you have these clonal hematopoiesis mutations, you have a greater risk for developing hematologic cancer than do patients who don't have them," she said.

Coombs said more research is needed to determine the cause of these increases.

Explore further: Biomarker may predict which formerly treated cancer patients will develop highly fatal form of leukemia

More information: Catherine C. Coombs et al. Therapy-Related Clonal Hematopoiesis in Patients with Non-hematologic Cancers Is Common and Associated with Adverse Clinical Outcomes, Cell Stem Cell (2017). DOI: 10.1016/j.stem.2017.07.010

How do initially benign forms of cancer evolve to become aggressive? In a quest to answer this long-standing question, an EU project has studied the growth and clonal evolution of chronic lymphocytic leukaemia (CLL)a blood ...

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Researchers find genetic precursors of leukemia in patients treated for non-blood cancers - Medical Xpress

Family with Cancer Syndrome Finds Hope at University of Arkansas for Medical Sciences – KATV

Melinda Godsey was enjoying a normal day visiting her family in Little Rock when she started to feel sick. I thought I had a stomach virus, she said. Not wanting to infect her grandchildren, she got up the next morning and started the drive back to her home in El Dorado.

Feeling weaker and weaker as the two-hour trip progressed, Godsey, an interior designer and artist, recalls the frightening moment when she passed out behind the wheel. It was quick. I just faded in and out. Thankfully I didnt cross any lanes of traffic, she said.

Her weakness continued to progress over the next three days, getting to the point where she could not shower or speak. After being admitted to the hospital, doctors found what looked to be the cause of her weakness: Severe bleeding ulcers in her stomach had resulted in a significant loss of blood.

However, that wasnt the only thing they found. Tests also revealed that the ulcers were merely a symptom of a much larger problem that had likely been growing for months. Godsey was living with linitis plastica, a rare stomach cancer that spreads to the muscles of the stomach wall, causing it to harden and become rigid. While this aggressive cancer starts in the stomach, it quickly spreads to other organs, making treatment options limited and complex.

While this diagnosis was about to change Godseys life, she did not yet know the impact it would have on her loved ones as well.

Linitis plastic represents from 5 percent to 10 percent of all gastric cancers, and a slight increase in cases has been observed over the past few years. This may be attributed to improved diagnostic tools, says Luidmila Schafer, M.D., a medical oncologist and assistant professor in the UAMS College of Medicine Department of Internal Medicine.

Our knowledge and ability to diagnose rare cancers has improved significantly in recent years, so conditions such as linitis plastica may not have been diagnosed with such precision in the past, she explains.

Godsey was referred by her physician in El Dorado to a cancer center out of state, where she immediately went for evaluation. After confirming her diagnosis, she was given the news that the cancer had already spread to her abdomen and the preferred surgical treatment was no longer an option. However, she was a candidate for aggressive chemotherapy.

Because her out-of-state physician received his fellowship training in the UAMS Hematology/Oncology Fellowship program, he was aware of the UAMS Winthrop P. Rockefeller Cancer Institute and its comprehensive treatment programs. He told Godsey that she could return to Arkansas and receive chemo at the Cancer Institute close to home.

Referrals were made and Godsey arrived for her first appointment at UAMS in June, about one month after her diagnosis. Unfortunately, good news did not await her. Godsey had developed sepsis as the result of an infection, resulting in a week-long hospitalization and postponement of the start of chemotherapy.

It was a tough start, said Godseys daughter, Courtney Cassinelli, adding that after the infection cleared, her mom was able to begin two types of chemo given simultaneously under Schafers supervision.

While the treatment has been tough, Godsey is thankful for her good days and the time shes been given.

I could have lived for only a short time, but Ive made it two years thanks to Dr. Schafers care. What she has done for me has been remarkable, she said.

A Family Connection

At about the same time that Godsey was coming to terms with her diagnosis of stage 4 stomach cancer in 2015, her first cousin, Anita Meek, was getting the news that she had been diagnosed with lobular breast cancer. This form of breast cancer makes up only about 10 percent of invasive breast cancers and typically doesnt form a lump, making it less likely to be detected on a mammogram.

Having lost a young son to cancer, Meek, who lives in Harrison, decided to undergo genetic testing to see if there might be an inherited genetic component to their conditions. Schafer also recommended that Godsey undergo genetic testing at the UAMS Cancer Genetics Clinic due to the rarity of her cancer and the known link between linitis plastica and the CDH1 gene mutation.

As the only cancer genetics clinic in Arkansas, we see people with rare cancers, early-onset cancers or unusual presentations of cancer from across the state and region, said Kent McKelvey, M.D., director of Cancer and Adult Genetic Services and associate professor of family medicine and genetics in the UAMS College of Medicine.

UAMS has the only board-certified geneticists who diagnose, manage and treat complex cancer syndromes, of which there are more than 50. Cancer genetics counselors work with the geneticist and are a vital part of the team to help families understand their genome and its implications in cancer prevention.

Although any doctor can order genetic testing which is conducted using a blood or saliva sample the process can be daunting. Abnormal results must be put into context for a specific patient and family in this rapidly changing field and no two cases are the same.

When both Godsey and Meek were found to have the CDH1 gene mutation it only took minutes for McKelvey to conclude it was passed to them by their fathers, who were brothers.

A person doesnt inherit cancer from their parents. However, they can inherit the predisposition to cancer. Thats what happened in this family. The CDH1 gene mutation that Mrs. Godsey and Mrs. Meek have increases their risk of developing linitis plastica by about 80 percent and lobular breast cancer by about 40 percent, McKelvey said.

There also is, to a lesser extent, an increased risk of colon cancer associated with CDH1.

Moving Forward

Armed with this information, Meek underwent a double mastectomy at a hospital near her Northwest Arkansas home and continues to be followed twice yearly at Highlands Oncology Group (HOG). The UAMS Cancer Institute and HOG formed a partnership in 2013 that provides expanded access to clinical trials and advanced treatment options to residents of Northwest Arkansas.

Because Godsey and Meek now knew they carried the CDH1 mutation, they also knew their adult children could choose to undergo genetic testing to determine if they had inherited it as well. When someone carries a gene mutation, they have a 50-50 chance of passing that mutation along to each of their children.

My sister and I were both tested at UAMS. My test came back negative, but hers was positive, said Cassinelli. Because Cassinelli does not carry the gene mutation, there is no need to test her children. Once the line is broken, it does not reappear in subsequent generations.

As for Kelly Cameron, Godseys eldest daughter, the positive result set in motion a series of completely unexpected and life-changing decisions.

Because there is no screening method for stomach cancer, it is often found in its late stages after it has already spread to other organs, which was the case with Godsey. The only way to prevent a person with the CDH1 gene mutation from developing stomach cancer is to undergo a procedure called total gastrectomy, which involves removing the stomach and extending the small intestine up to meet the esophagus. With time, the small intestine makes a small pouch mimicking the stomach.

Because food now passes directly into the small intestine when it is consumed, side effects such as bloating, nausea, vomiting, cramps and diarrhea following total gastrectomy are common in the first few months.

Although it is possible to adjust to the new diet and small meals required following total gastrectomy, the surgery also has an impact on a persons physical, social and emotional health, Schafer said.

Due to her young age and the high likelihood that she would develop this rare cancer in her lifetime, the 41-year-old Cameron decided that, regardless of the side effects, total gastrectomy was her best option.

While it has been a challenging transition since her surgery in February 2016, each month becomes a little bit easier for Cameron. The first year is traumatic to your body. Your stomach is a major player and suddenly its gone. You cant fully understand what thats like unless you experience it yourself, she said.

Ultimately, however, the body adapts to its new situation and the symptoms subside. Its a new normal, Cameron said, adding that she has essentially relearned how and what to eat, in addition to taking vitamin supplements that ensure she meets her daily nutritional needs.

Although Meek also is at risk of developing linitis plastica, she elected to forego total gastrectomy for now. If I were younger, I may have chosen that path as well. Instead, Im seeing my doctor regularly and hoping that any signs of cancer will be found early, she said.

Additional Prevention

While still adjusting to her total gastrectomy, Cameron also decided in December 2016 to undergo a bilateral prophylactic mastectomy by having both breasts removed before there was any evidence of cancer.

According to the National Cancer Institute, this surgery will reduce her risk of developing breast cancer by at least 95 percent. The surgery was performed in December 2016 by V. Suzanne Klimberg, M.D., who was then director of the UAMS Breast Cancer Program.

She will soon finish the breast reconstruction process led by plastic surgeon Eric Wright, M.D., associate professor in the UAMS College of Medicine Division of Plastic and Reconstructive Surgery.

Cameron is thankful the surgical options were presented to her by McKelvey after completing her genetic test.

He was a straight shooter. He told me exactly what I needed to do if I wanted to eliminate the chance of developing these cancers, she said.

She also is thankful to have gone ahead with the surgeries at a young age, as the total gastrectomy revealed stage 1 cancer already formed in the lining of her stomach, as well as precancerous cells in one breast.

If not for that genetic test and Dr. McKelveys guidance, I would have had a much earlier onset of disease than my mom did. Knowing my genetic makeup saved my life, she said.

Next Steps

Now that her surgeries are complete, next on Camerons list is yearly colonoscopies at UAMS to screen for early signs of colon cancer. Thankfully there is a successful screening method for colon cancer, so no preventative surgery is needed there, she said.

Then, after her son turns 18, he will have the opportunity to undergo genetic testing at UAMS for the CDH1 gene mutation and make his own decisions based on those findings. Some of Godseys siblings and other relatives also have agreed to undergo testing to see if they carry the gene and may have passed it to their children.

In addition to providing individuals with knowledge about their personal health risks, genetic tests also assist researchers in better understanding cancer syndromes in the future.

Our ability to diagnose and understand cancer and other genetic syndromes is changing on a weekly basis. Because of this, we need the ability to bank and store individual genomes and tumor samples that can be compared and analyzed for a better understanding of how these syndromes work. As more samples are documented, our knowledge will continue to grow, says McKelvey.

Godsey and Cameron agree they found the right place to address their complex medical needs.

The Cancer Institute at UAMS has been wonderful. Theyve treated me not only like a patient, but more like a friend. Members of the staff have even called to check on me at home. I would never go anywhere but UAMS, Cameron said.

The University of Arkansas for Medical Sciences is the home of our states only academic health sciences center. With clinics covering nearly every medical specialty, our research and educational programs inspire new knowledge that results in better diagnosis and more advanced patient care. To learn more about UAMS or schedule an appointment with one of our physicians, visit uamshealth.com.

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Editorial: The growth of regenerative medicine – Concord Monitor

The field is called regenerative medicine, technology that shows promise of repairing or replacing human organs with new ones, healing injuries without surgery and, someday, replacing cartilage lost to osteoarthritis.

New Hampshire could become one of the centers of the new industry and become the next Silicon Valley, says Manchester inventor Dean Kamen. The governor and Legislature, however, arent doing what they need to make the potential economic and intellectual boom more likely.

Sever the spinal chord of a zebra fish, an aquarium standby, and it will regrow in a couple of weeks. Remove a limb from a salamander, and it will grow another one indistinguishable from the first. And even some humans, especially when young, can regrow a new fingertip and fingernail on a digit severed above its last joint. Medical science is moving ever closer to performing such wonders.

3-D bioprinters that use biologic materials instead of printer ink are already printing replacement human skin. A University of Connecticut scientist and surgeon believes it will be possible to regenerate human knees sometime in the next decade and regrow human limbs by 2030.

At Ohio State University, a team has succeeded in using genetic material contained in a tiny microchip attached to skin and, with a tiny, Frankenstein-like zap of electricity, reprogram skin cells to produce other types of human cells. Turn a skin cell into say, a vascular system cell, and it will migrate to the site of a wound, spur healing and restore blood flow. Convert skin cells to brain cells and, with a few more steps, it could help stroke victims recover. The technologys potential is enormous.

Kamen created the portable insulin pump, and he and his team at DEKA Research in Manchesters millyard produced the Segway human transporter, a device that provides clean water in places that lack it, an external combustion engine that will soon heat and power part of the states mental hospital, and other inventions. Their track record helped Kamen and DEKA beat out plenty of other applicants to win $80 million in federal funds to found ARMI, the Advanced Regenerative Manufacturing Institute in Manchester. Total funding is now just shy of $300 million.

The governments aim is to spur technologies that could be used to treat injured soldiers but whats learned could aid everyone and make New Hampshire a mecca for scientists, production facilities, pharmaceutical companies and more. DEKA will not create the new technologies but use its inventing and engineering expertise to help companies scale up and speed up regenerative medicine technologies so they can be brought to the market more quickly at an affordable cost.

The states university system has partnered with DEKA to train students who will one day work in the biotech field. The educational infrastructure is in place, but its handicapped by the states sorry funding of higher education. New Hampshire regularly ranks last or next to last in state support and its students carry the most debt of any in the nation.

To make New Hampshire the biotech mecca Kamen envisions will require lawmakers to better fund higher education, support the regenerative manufacturing institute and make housing available. A high-tech company that wants to come to New Hampshire cant do so if its workers cant afford a home.

Regenerative medicine is expected to become a massive economic engine, one that will create jobs and improve lives while lowering health care costs. The Legislature should be doing all it can to make sure that at least some of that engine is designed and made in New Hampshire.

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Editorial: The growth of regenerative medicine - Concord Monitor