The American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) have recently revisited and updated clinical information and recommendations on several related documents: Practice Bulletin 162, which will be reviewed in this communication; Screening for Fetal Aneuploidies (Practice Bulletin 163); Microarrays and Next Generation Sequencing Technology (Committee Opinion 682); and Carrier Screening for Genetic Conditions (Committee Opinion 691). In Practice Bulletin 162, Drs Mary Norton and Marc Jackson are the acknowledged authors on behalf of the ACOG Committee on Genetics and SMFM. Practice Bulletin 162 should be applauded for recommendations and conclusions that previous ACOG bulletins could be accused of obviating in deference to tradition.

Invasive Prenatal Diagnostic Techniques

In 2007, ACOG boldly stated in Practice Bulletin 77 that all pregnant women should have the option of an invasive procedure (chorionic villus sampling [CVS] or amniocentesis).1 This statement still holds and reflects the sensitivity of detecting fetal abnormalities being greatest with diagnostic tests using tissue obtained from an invasive procedure. New in Practice Bulletin 162 are updated risks for CVS and amniocenteses. The hackneyed and outdated allusions to a loss rate of up to 1% for CVS or 0.5% (1 in 200) for amniocenteses are no longer applicable. Pregnancy loss rate following CVS 10 weeks is now cited as 0.22% (1 in 455).1, 2 The risk of limb reduction defects with CVS is stated to be 6 per 10,000, not significantly different from the general population and as concluded by the World Health Organization in 1994.3 This risk only applies to procedures performed 10 weeks.

The loss rate following traditional amniocenteses is now stated to be 0.13% (1 in 769) in experienced hands.1 Practice Bulletin 162 does cite a 1% to 2% rate of amniotic membrane rupture, which seems unduly high in my opinion and based on a 1998 study.4 On the other hand, perinatal survival following often transient membrane rupture is, in my opinion, plausibly stated to be greater than 90%. The long-accepted conclusion that 10- to 13-week amniocentesis is not recommended was confirmed. Loss rates in multiple gestations are said to be 2%, but this is likely to be lower in experienced hands.

Laboratory Tests and Diagnostic Accuracy

The most transformative guideline in Practice Bulletin 162 is its recommendation for DNA-based microarrays to determine status of all 24 chromosomes. A karyotype is no longer recommended.

This conclusion is based, first, on the 2012 National Institutes of Child Health and Human Development (NICHD) trial of Wapner and colleagues including this author,5 followed by replication.6 The NICHD trial report compared accuracy and additional yield of microarray versus karyotype. Given a normal fetal ultrasound and a normal fetal karyotype, chromosomal microarrays identified clinically significant (chromosomal) abnormalities in 1.7% additional cases over those detected by karyotype alone. The additional abnormalities involved genomic material smaller than the 5 to 7 million base pair resolution possible with a high-resolution karyotype. If ultrasound had revealed a fetal anomaly, the yield catapulted an additional 6%. The take-home message is that an invasive prenatal procedure performed for any reason warrants a chromosomal microarray, and not simply a karyotype.

Chromosomal mosaicism is stated to occur in 0.25% of amniocenteses and in 1% of CVS samples. In amniotic fluid and in chorionic villi analysis, providers have long applied algorithms to clarify the clinical significance of abnormal, non-modal cells. If a non-modal cell line in chorionic villi is believed confined to trophoblasts (placenta), the embryo itself should theoretically be normal: confined placental mosaicism (CPM). Extant recommendations for determining clinical significance remain.

Practice Bulletin 162 was prepared, however, prior to generation of new information derived from next generation sequencing (NGS). With NGS, mosaicism is unavoidably encountered, given its greater sensitivity, more often than with chromosomal microarrays. If NGS has been recently introduced into a lab to which prenatal samples are being sent, the provider should inquire if altered criteria for prenatal diagnosis of CVS or amniotic fluid cell mosaicism is being applied. NGS is now widely used in preimplantation genetic diagnosis (PGD), for which Practice Bulletin 162 was presumably not intended.

Testing in Fetal Death or Stillbirths

Chromosomal microarrays have also replaced karyotypes as the recommended diagnostic test in evaluating tissue from a fetal demise. In addition to greater sensitivity, chromosomal microarrays do not require cultured cells. This has long been a major problem in studying miscarriages, as witnessed by a disproportionate number of 46, XX results, a reflection of unwitting laboratory analysis of maternal cells. It is difficult to avoid maternal admixture (decidua) in cultures of products of conception. With chromosomal microarrays, however, DNA alone from identifiable fetal tissue (villi) will suffice to generate results, without need for cell culture; thus, the percentage of informative cases has greatly increased (90%).

ACOG recommends that if only a karyotype were possible, cell culture should be initiated from amniotic fluid obtained by amniocentesis. This should maximize the rate of successful cell culture required for a karyotype.

Prenatal Diagnosis Procedures in Maternal Infection

Practice Bulletin 162 appropriately counsels that transmission of chronic maternal infection to the fetus is increased if an invasive procedure is performed in a mother who has hepatitis B, hepatitis C or HIV. However, risks can be mitigated. The once prohibitively high rate of maternal-to-fetal transmission in HIV is now greatly decreased when affected women receive combination antiretroviral therapy. In the study on which Practice Bulletin 162 recommendation was based, 30 of 2528 fetuses (~1% of ART-treated HIV) women were infected.7 Notwithstanding this 1%, Practice Bulletin 162 states that the risk of newborn infection is not increased after amniocenteses, presumably based on the caveat that maternal viral load is low or undetectable. A recommendation is made, however, to perform the necessary invasive procedure once viral loads are undetectable.

Conclusion

Practice Bulletin 162 states that loss rates following an invasive prenatal diagnostic procedure should now be communicated to be 1 in 769 for amniocentesis and 1 in 455 for CVS. For most practitioners, these new numbers will be more in sync with their clinical impressions. Also transformative in Practice Bulletin 162 is that chromosomal microarrays and not a karyotype should be ordered whenever an invasive prenatal procedure (CVS, amniocenteses) is performed. This holds whether evaluation is for a miscarriage or stillbirth.

References

1. American College of Obstetricians and Gynecologists Committee on Practice Bulletins: Screening for fetal chromosomal abnormalities, Practice Bulletin 77. Obstet Gynecol. 2007; 109-217.

2. Akolekar R, Beta J, Picciarelli G, Ogilvie C, DAntonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2015;45:1626.

3. Kuliev A, Jackson L, Froster U, Brambati B, Simpson JL, Verlinsky Y, et al. Chorionic villus sampling safety. Report of World Health Organization/EURO meeting in association with the Seventh International Conference on Early Prenatal Diagnosis of Genetic Diseases, Tel Aviv, Israel, May 21, 1994. Am J Obstet Gynecol 1996;174:80711.

4. Borgida AF, Mills AA, Feldman DM, Rodis JF, Egan JF. Outcome of pregnancies complicated by ruptured membranes after genetic amniocentesis. Am J Obstet Gynecol 2000;183:9379.

5. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:217584.

6. de Wit MC, Srebniak MI, Govaerts LC, Van Opstal D, Galjaard RJ, Go AT. Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature. Ultrasound Obstet Gynecol 2014; 43:13946.

7. Mandelbrot L, Jasseron C, Ekoukou D, Batallan A, Bongain A, Pannier E, et al. Amniocentesis and mother-to-child human immunodeficiency virus transmission in the Agence Nationale de Recherches sur le SIDA et les Hepatites Virales French Perinatal Cohort. ANRS French Perinatal Cohort (EPF). Am J Obstet Gynecol 2009;200:160.e19.

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ACOG Clinical Guidelines at a Glance: Prenatal diagnostic testing for genetic disorder - ModernMedicine

This analysis sought to quantify US residents acceptance of [genetic modification (GM)] across five potential uses (grain production, fruit or vegetable production, livestock production, human medicine, and human health, i.e. disease vector control).

The two categories with the highest levels of acceptance for GM use were human medicine (62% acceptance) and human health (68% acceptance).

Acceptance of GM in food uses revealed 44% of the sample accepted the use of GM in livestock production while grain production and fruit and vegetable production showed similar levels of agreement with 49% and 48% of responses, respectively.

[R]espondents who reported being male were more likely (than those who reported female) to agree with all five of the uses of GM studied.

The results of this study align with past studies that suggest people are more willing to accept the use of GM technology for human medicine and human health reasons (62% and 68% respectively) than for livestock production, grain production, or fruit and vegetable production (44%, 49% and 48% respectively.) Notably, the proportion of survey respondent acceptance of food production uses (grain, fruit and vegetable, and livestock production) differed significantly from the proportion which accepted GM for both human health reasons and human medicine.

Being male, younger, of higher income, and college educated generally contributed to higher willingness to accept GM technology, which could be related to the access of information.

Summary of sample acceptance of GMOs across five categories/uses

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:When is genetic modification socially acceptable? When used to advance human health through avenues other than food

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GMO foods vs. GM medicine: What's the difference in public acceptance? - Genetic Literacy Project

BOSTON -- Personalized care depends on a lot more than a person's molecular makeup. In fact, it more often stems from larger external forces that exert a profound and often unnoticed impact on wellness: air and water quality, financial stability, the ability to get healthy groceriesand even broadband internet access.

"Precision medicine is about more than the genetics and the drugs," said Vikram Bakhru, MD, is chief operating officer at ConsejoSano, a Spanish-language health services and patient engagement platform.

At the HIMSS Precision Medicine Summit Tuesday, he explained how lifestyle, economic and environmental factors have huge effects on population health and how electronic health records need to do a better job incorporating data about social determinant data.

"We are focused on the genetic components of disease, and that's important," said Bakhru. "But we have to start understand all of the other components that really matter."

[Also:A precision medicine fight is brewing between clinicians, public health]

As much as 70 percent of a person's health is determined by social or environmental factors, he said. But despite near-ubiquity of EHRs, that crucial information is still not being logged to help guide care and treatment plans.

"When we talk about the social determinants of health, a lot of it start with the EHR, and making sure that a lot of that information is surveyed by clinicians."

Bakhru cited a study that showed that 50 percent of the information relayed from the patient to the physician during outpatient encounters was not logged in the EHR.

The question, then, is how to harness precision medicine tools that can make social determinants of health a core focus. That won't happen without more robust connectivity especially for those underserved populations that need it most.

"I think the number one issue you're going to see in the next 10 years is access to bandwidth," he said. "This is going to be our major challenge."

But there's reason for optimism, said Bakhru, who sees office visits increasingly supplanted by telemedicine, which has new momentum: recent policy shifts to bring down barriers to access to telehealth "are miraculous," he said, "the changes to state laws are incredible."

[Also:Why legal challenges could slow down precision medicine]

From there, he sees evolution toward a "new class of care" which will harness all aspects of precision medicine, genetic and social, making the most of mobile apps, connected health tools, patient engagement strategies and more.

Along the way, it's key to keep an open mind, he said.

"As we think about precision medicine, we're trying to find what works for each individual patient," said Bakhru. And as providers and tech developers work to learn what social determinants are most applicable to each of those patients how to learn from them and how to better incorporate them into care plans a spirit of experimentation is essential.

"If we all do things the same way we may never actually get there," he said. "You can't establish best practices if you haven't tried 1,000 different ways."

Twitter:@MikeMiliardHITN Email the writer: mike.miliard@himssmedia.com

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Get social data in EHRs to bring precision medicine to population health - Healthcare IT News

National Institutes of Health (press release)

NIAID scientists discover rare genetic susceptibility to common cold ... National Institutes of Health (press release) Scientists have identified a rare genetic mutation that results in a markedly increased susceptibility to infection by human rhinoviruses (HRVs) the main ... and more »

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NIAID scientists discover rare genetic susceptibility to common cold ... - National Institutes of Health (press release)

Two gene-editing companies are hitting back at a scientific publication that caused their stocks to plummet, calling it wrong, filled with errors, and saying it shouldnt have been published.

In separate letters sent to Nature Methods, scientists from Intellia Therapeutics and Editas Medicine criticized a report in the journal that claimed the gene-editing tool CRISPR had caused unexpected mutations in the genomes of mice and which cast a shadow over efforts to initiate human studies using the technique.

A spokesperson at Springer Nature, which publishes Nature Methods, said the organization had received a number of communications already about the paper. We are carefully considering all concerns that have been raised with us and are discussing them with the authors, the journal said.

On Twitter and elsewhere, other scientists quickly pointed out basic mistakes in the paper, including misidentifying genes, the small number of animals involved and, most seriously, that it had mislabeled normal genetic differences between animals as the result of CRISPR editing.

In our opinion the conclusions drawn from this study are unsubstantiated by the disclosed experiments, wrote Vic Myer, chief technology officer of Editas, in a letter signed by 11 other company scientists.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:Gene Editing Companies Hit Back at Paper That Criticized CRISPR

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Controversial CRISPR paper blasted by gene-editing companies ... - Genetic Literacy Project

The case of a young girl who frequently got sick from colds has helped scientists pinpoint a rare genetic mutation that makes people more susceptible to cold viruses.

The 5-year-old girl has suffered numerous life-threatening infections from human rhinoviruses, which cause the common cold, according to a new report. When she was just over 1 month old, she developed an infection with both a rhinovirus and a flu virus, and had to be placed on a ventilator so she could breathe. Since then, she has been hospitalized more than 15 times with various respiratory infections, including colds, the flu and bacterial pneumonia, according to the report, from researchers at the U.S. National Institute of Allergy and Infectious Diseases (NIAID).

Because of these frequent infections, her doctors suspected her immune system was not functioning properly, and they sequenced her genome to see if they could find a genetic explanation for her symptoms. [27 Oddest Medical Cases]

They found she had a mutation in a gene called IFIH1, which is involved in the production of immune- system proteins called MDA5. Normally, MDA5 proteins help detect the presence of viruses inside cells and signal the activation of other immune-system proteins to fight the infection, the researchers said.

But in earlier studies in mice, scientists had found that animals that lack working MDA5 proteins could not detect certain viruses and were thus not able to activate an immune response against these viruses.

In the new study, the researchers found that the girl's MDA5 proteins did not recognize rhinoviruses. This meant that rhinoviruses could continue replicating at high levels and lead to severe illness. The researchers concluded the working MDA5 proteins are critical to protecting people from rhinoviruses.

"The human immune response to common cold viruses is poorly understood," Dr. Anthony Fauci, director of the NIAID, said in a statement. "By investigating this unique case, our researchers not only helped this child but also helped answer some important scientific questions about these ubiquitous infections that affect nearly everyone."

The researchers also turned to a database containing information from the genomes of more than 60,000 people to see whether there were other cases of health problems related the IFIH1 gene. They found several different mutations in the IFIH1 gene that could lead to less effective MDA5 proteins, although these mutations were rare.

In addition, most people with these IFIH1 mutations lived normal life spans (the earliest death was at age 81), and they had healthy children. The researchers suspect that these people may have had other genetic factors that compensated for their improperly working MDA5 proteins and kept them from catching life-threatening colds; or they survived despite experiencing frequent colds, but did not report those colds.

Although most people who get sick with a cold recover without a doctor's visit, some people can experience serious complications from colds, particularly if they have asthma, chronic obstructive pulmonary disease or other health problems, the researchers said. The findings may one day lead to new ways to treat patients with severe illness from rhinoviruses who also have MDA5 proteins that aren't working properly, they said.

"When people have other disease factors, [rhinovirus] infection can become a tipping point and lead to severe illness, disability or even death," said study co-author Dr. Helen Su, chief of the Human Immunological Diseases Unit at NIAID. "Now that we better understand the pathway, we can investigate more targeted ways to intervene" in these cases.

The girl in the current study survived numerous respiratory infections, but still needs treatment with supplemental oxygen, the report said. Although her genetic mutation appears to increase the risk of rhinovirus infections only, other factors, such as lung injury, also might have increased her susceptibility to other respiratory viruses, including flu viruses, the researchers said.

The girl's health improved as her immune system matured and she was able to form antibodies against various viruses, which protect against infection. These antibodies partly helped to compensate for the defective MDA5 response, the researchers said.

The study was published today (June 12) in the Journal of Experimental Medicine.

Original article on Live Science.

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Rare Genetic Mutation Makes People Prone to Colds - Live Science

BOSTON Hospitals, networks and the federal government can use precision medicine to drive expenses out of the system, better understand disease and prevent people from getting sick in the first place.

We have a broken healthcare systems and were hoping precision health can help reduce costs, said Megan Mahoney, MD, chief of general primary care in the Division of Primary Care and Population Health at Stanford University, said Monday at the Precision Medicine Summit.

[Also:Widespread precision medicine is still years away, experts say]

Penn Medicine Associate Vice President Brian Wells agreed. We think we can reduce costs, Wells said. At Penn we can shorten the time to a good outcome for the patients.

Mahoney pointed, for example, to the ability to identify predictors of disease and move that upstream to advance disease prevention as just one example.

That is an enormous opportunity right now, according to Nephi Walton, a biomedical informaticist and genetics fellow at the Washington University School of Medicine.

[Also:Eric Dishman wants precision medicine to move from personal to universal]

Every single day without exception we are discovering a new genetic disease, Walton said. Beyond knowing the diseases, how to manage them is a huge task, a huge amount of information gathering.

And todays crop of electronic health records are not ready for that, Walton said.

In order to do precision medicine you need all the patients data in a common repository, said Beth Israel Deaconess Medical Center CIO John Halamka, MD.

Beth Israel, for instance, has 26 different EHRs across 450 sites of care, so Halamka said that it uses a common data repository for precision medicine work instead of the electronic health record.

Stanford, for its part, undertook a primary care transformation initiative as part of its precision medicine work to move away from a traditional, transactional, catastrophe-based model toward a team-based approach where responsibility is distributed across a physician, an advanced practice provider and four care coordinators, Mahoney said.

The biggest issue we see in primary care is burnout 50 percent of employees experience it, Mahoney said. Precision health can help shift away from the in-person visit to what is more patient-centered and, Id argue, more provider-centered. This has really freed up the providers and given the joy of practice back to doctors.

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How precision medicine can fix a broken healthcare system - Healthcare IT News

A person's DNA at the Estonian Genome Center in Tartu.

Ossinovski said that developing a decision support system in personal medicine bringing together residents' genetic information and medical histories could be done in 10 years.

"Adding information about the whole population of Estonia to the genetic database would cost approximately 23 million, which is a negligible amount of money compared to the 1 billion we spend to finance medicine annually," Ossinovski said at a roundtable on the future of the Estonian healthcare system organized by the American Chamber of Commerce.

According to the health minister, if genetic information is combined with ten-year medical histories that the healthcare system already has and the necessary tools are created for doctors and the healthcare system to assess risks and offer better, more personalized service, this would be more cot-effective than the current healthcare system.

"The Genome Center has found that we have a high percentage of people suffering from hypertension just like every other society, but the drug that they use does not work on approximately ten percent of people as DNA analysis has revealed that their body produces a certain protein which makes this drug useless," Ossinovski offered as an example.

"Nationwide campaigns for testing for breast cancer that we currently have almost never find anything before it is too late," he also noted. "We are spending money and time to tet all women, although 90 percent of them have no risk of breast cancer and do not need testing. And in the people who do have a risk of breast cancer, it is detected too late."

Instead of this, the minister continued, it would be possible to determine with a test at birth already whether they run the risk of getting breast cancer when they are older. "And that information can be used in order for people to get better services and the system to be more cost-effective," Ossinovski added.

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Minister: 23 million genetic database would help save on healthcare costs - ERR News

While genetic testing has been used for years to diagnose cancer, it is now finding new application in the identification of cancerous mutations that will respond to targeted therapies. NuView Life Sciences is developing a new technology platform, NV-VPAC1, that could be used in tandem with genetic testing to deliver precise treatment to an individuals unique cancer cells.

Park City, UT (PRWEB) June 07, 2017

In 2017, an estimated 1,688,780 new cancer cases will be diagnosed in the United States(1). Up to 10% of these cases will be caused by inherited genetic mutations(2), while almost two thirds of these cases will result from random mutations that occur as cells copy themselves in a process called DNA replication(3). While genetic testing is already being used to explore triggers for cancer development, researchers are now investigating the use of genetic testing to choose specific cancer treatments based on an individuals unique genetic makeup. As this field of genetics grows, companies like NuView Life Sciences are developing innovative technologies that can be used to target cancerous cells.

In recent years, genetic testing for certain mutations, such as BRCA1 and BRCA2, has become a mainstay in cancer diagnostic tests, specifically those that are more likely to occur as a result of genetic abnormalities. However, researchers are now better understanding the role that genetic mutations play in a patients response to treatment. Since certain mutations can make a patient less likely to respond to treatment(4), efforts involving the use of genetic testing to determine patient-specific treatment plans have grown.

Paul Crowe, CEO of NuView Life Sciences, says, Were finding out now that the mutations that lead to cancer can also be used to identify certain treatments that give the patient the best shot at success. At NuView, were already in the process of developing advanced technology, specifically our NV-VPAC1 platform, that will be able to use identified mutations to target cancerous cells and deliver treatment based on the patients unique genetic makeup.

For years, cancer treatment has involved the application of one-size-fits-all treatment methods like chemotherapy and radiation. Instead of delivering treatment directly to cancer cells, these treatments affect all cells that grow and divide, including normal, healthy cells(4). While the patient may benefit from such treatments, there is no guarantee that they will be effective against specific types of cancer(4). These broad-spectrum therapies can also cause many serious side effects that negatively impact the patient and reduces their quality of life through treatment(4).

As the field of precision medicine evolves, genetic testing is proving useful in the identification of cellular targets containing mutations that drive cancer progression(5). It is now possible to identify cancer cells based on abnormal protein levels, or by specific mutations that can easily be identified in a persons chromosomes(5). As cancerous cells are isolated, individual treatments can be determined based on the cells unique mutations. Instead of relying on standard therapies, precision medicine technologies, like NuViews NV-VPAC1, can be used to administer targeted cancer therapies to specific cellular destinations that have been identified as cancerous.

Crowe says, We want patients to be able to receive treatment thats based on their unique circumstances instead of standard therapies that are given with no real regard for a persons individual genetics. We are working toward using our technology to deliver treatment directly to cancer cells, administering precisely determined doses of medications that, based on a persons individual genetic composition, could prove to have the most success in stopping the spread of cancer.

About NuView Life Sciences: Founded in 2005, NuView Life Sciences is a biotechnology company located in Park City, Utah, working to improve the way cancer is diagnosed and treated in our modern healthcare system. NuView is focused on creating precision cancer diagnostics and therapeutics to improve patient outcomes while reducing healthcare costs through the development and clinical application of its exclusive peptide analog technology, NV-VPAC1.

Led by a team of industry experts with decades of combined experience in healthcare and medical imaging technologies, NuView is poised to change how we look for and respond to cancer. To learn more about NuView Life Sciences, please visit http://nuviewinfo.com/site/3/.

Sources: 1.Cancer Facts & Figures 2017. American Cancer Society. https://www.cancer.org/research/cancer-facts-statistics/all-cancer-facts-figures/cancer-facts-figures-2017.html 2.The Genetics of Cancer. National Cancer Institute. https://www.cancer.gov/about-cancer/causes-prevention/genetics 3.Random mutations blamed for big role cancer. CBS News. http://www.cbsnews.com/news/cancer-random-genetic-dna-mutations-two-thirds-of-cases/ 4.Genetic Tests for Targeted Cancer Therapy. Lab Tests Online. https://labtestsonline.org/understanding/analytes/cancer-therapy/ 5.Targeted Cancer Therapies. National Cancer Institute. https://www.cancer.gov/about-cancer/treatment/types/targeted-therapies/targeted-therapies-fact-sheet

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Genetic Testing Paving the Way for Precision Medicine-Based Cancer Treatment - SNJ Today

Cohen found a receptive audience in Fleck, who was working with UCs former Center for Imaging Research. After all, who better to tackle one of medical sciences hardest problems than a rocket scientist? Cohen, an aerospace engineer, felt up to the task.

Ernest said people should not conflate the technology with its applications. The algorithm he developed is not a sentient being like the villains in the Terminator movie franchise but merely a tool, he said, albeit a powerful one with seemingly endless applications.

I get emails and comments every week from would-be John Connors out there who think this will lead to the end of the world, Ernest said.

Ernests company created EVE, a genetic fuzzy AI that specializes in the creation of other genetic fuzzy AIs. EVE came up with a predictive model for patient data called the LITHium Intelligent Agent or LITHIA for the bipolar study.

This predictive model taps into the power of fuzzy logic to allow you to make a more informed decision, Ernest said.

And unlike other types of AI, fuzzy logic can describe in simple language why it made its choices, he said.

The researchers teamed up with Dr. Caleb Adler, the UC Department of Psychiatry and Behavioral Neuroscience vice chairman of clinical research, to examine bipolar disorder, a common, recurrent and often lifelong illness. Despite the prevalence of mood disorders, their causes are poorly understood, Adler said.

Really, its a black box, Adler said. We diagnose someone with bipolar disorder. Thats a description of their symptoms. But that doesnt mean everyone has the same underlying causes.

Selecting the appropriate treatment can be equally tricky.

Over the past 15 years there has been an explosion of treatments for mania. We have more options. But we dont know who is going to respond to what, Adler said. If we could predict who would respond better to treatment, you would save time and consequences.

With appropriate care, bipolar disorder is a manageable chronic illness for patients whose lives can return to normal, he said.

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AI used to treat bipolar disorder in an app that could revolutionize medicine - ScienceBlog.com (blog)

Sports Perspectives

Tumor-Agnostic Cancer Drugs Seen Boosting Wider Genetic Tests P&T Community Five years ago, companies such as Foundation Medicine introduced genetic profiling tests that look for a range of cancer-causing genes to match patients to a handful of targeted drugs for lung, skin, and breast cancer or to clinical trials testing new ... Precision Oncology Drug Shows Power Of Cancer GenomicsForbes all 66 news articles »

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Tumor-Agnostic Cancer Drugs Seen Boosting Wider Genetic Tests - P&T Community

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With Breast Cancer, the Best Treatment May Be No Treatment - WIRED

Paul Crowe, CEO of NuView Life Sciences, discusses genetic testing to determine cancer treatments.

Park City, UT (PRWEB) June 07, 2017

In 2017, an estimated 1,688,780 new cancer cases will be diagnosed in the United States(1). Up to 10% of these cases will be caused by inherited genetic mutations(2), while almost two thirds of these cases will result from random mutations that occur as cells copy themselves in a process called DNA replication(3). While genetic testing is already being used to explore triggers for cancer development, researchers are now investigating the use of genetic testing to choose specific cancer treatments based on an individuals unique genetic makeup. As this field of genetics grows, companies like NuView Life Sciences are developing innovative technologies that can be used to target cancerous cells.

In recent years, genetic testing for certain mutations, such as BRCA1 and BRCA2, has become a mainstay in cancer diagnostic tests, specifically those that are more likely to occur as a result of genetic abnormalities. However, researchers are now better understanding the role that genetic mutations play in a patients response to treatment. Since certain mutations can make a patient less likely to respond to treatment(4), efforts involving the use of genetic testing to determine patient-specific treatment plans have grown.

Paul Crowe, CEO of NuView Life Sciences, says, Were finding out now that the mutations that lead to cancer can also be used to identify certain treatments that give the patient the best shot at success. At NuView, were already in the process of developing advanced technology, specifically our NV-VPAC1 platform, that will be able to use identified mutations to target cancerous cells and deliver treatment based on the patients unique genetic makeup.

For years, cancer treatment has involved the application of one-size-fits-all treatment methods like chemotherapy and radiation. Instead of delivering treatment directly to cancer cells, these treatments affect all cells that grow and divide, including normal, healthy cells(4). While the patient may benefit from such treatments, there is no guarantee that they will be effective against specific types of cancer(4). These broad-spectrum therapies can also cause many serious side effects that negatively impact the patient and reduces their quality of life through treatment(4).

As the field of precision medicine evolves, genetic testing is proving useful in the identification of cellular targets containing mutations that drive cancer progression(5). It is now possible to identify cancer cells based on abnormal protein levels, or by specific mutations that can easily be identified in a persons chromosomes(5). As cancerous cells are isolated, individual treatments can be determined based on the cells unique mutations. Instead of relying on standard therapies, precision medicine technologies, like NuViews NV-VPAC1, can be used to administer targeted cancer therapies to specific cellular destinations that have been identified as cancerous.

Crowe says, We want patients to be able to receive treatment thats based on their unique circumstances instead of standard therapies that are given with no real regard for a persons individual genetics. We are working toward using our technology to deliver treatment directly to cancer cells, administering precisely determined doses of medications that, based on a persons individual genetic composition, could prove to have the most success in stopping the spread of cancer.

About NuView Life Sciences: Founded in 2005, NuView Life Sciences is a biotechnology company located in Park City, Utah, working to improve the way cancer is diagnosed and treated in our modern healthcare system. NuView is focused on creating precision cancer diagnostics and therapeutics to improve patient outcomes while reducing healthcare costs through the development and clinical application of its exclusive peptide analog technology, NV-VPAC1.

Led by a team of industry experts with decades of combined experience in healthcare and medical imaging technologies, NuView is poised to change how we look for and respond to cancer. To learn more about NuView Life Sciences, please visit http://nuviewinfo.com/site/3/.

Sources: 1.Cancer Facts & Figures 2017. American Cancer Society. https://www.cancer.org/research/cancer-facts-statistics/all-cancer-facts-figures/cancer-facts-figures-2017.html 2.The Genetics of Cancer. National Cancer Institute. https://www.cancer.gov/about-cancer/causes-prevention/genetics 3.Random mutations blamed for big role cancer. CBS News. http://www.cbsnews.com/news/cancer-random-genetic-dna-mutations-two-thirds-of-cases/ 4.Genetic Tests for Targeted Cancer Therapy. Lab Tests Online. https://labtestsonline.org/understanding/analytes/cancer-therapy/ 5.Targeted Cancer Therapies. National Cancer Institute. https://www.cancer.gov/about-cancer/treatment/types/targeted-therapies/targeted-therapies-fact-sheet

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Genetic Testing Paving the Way for Precision Medicine-Based ... - PR Web (press release)

Despite numerous studies debunking the belief that race is biologically determined, scientists continue to use race as a tool for genetic classification. But two Penn Integrates Knowledge professorsone a sociologist and legal scholar, the other an anthropologist and genomic scientisthave joined together to find a more accurate, inclusive way to study human genetic variation.

George A. Weiss University Professor Dorothy Roberts, who holds appointments inPenn Lawand theSchool of Arts & Sciences (SAS), is a leader in transforming public thinking and policy on reproductive health, child welfare, and bioethics.

David and Lyn Silfen University Professor Sarah A. Tishkoff, who holds appointments in thePerelman School of Medicineand SAS, created the worlds largest database of African diversity, addressing disparities in human genomic studies and advancing knowledge about modern human evolutionary history.

Roberts says that the prevailing view of race as a genetically determined category gives false credence to the idea that human beings are naturally divided into a handful of groups that embody fundamental biological differences. Besides being scientifically incorrect, the belief reinforces a politicized view of race that continues to treat social inequalities as if they were biologically determined, helping to bolster unjust institutions and policies. This view of race is also manipulated by white supremacists to support their claims of racial purity.

Tishkoff, who has been contacted by a number of journalists researching such claims, suggests that new technologies being used in genomics could soon make such race-based classifications obsoletebecause they empower researchers to draw useful inferences based on raw genetic data, without needing to create artificial means of classifying people.

Roberts points out another reason that such classifications are inherently problematic, and that is their subjectivity: Scientists may think about race as if it were a self-evident biological category when, as sociologists know, it can have different meanings for different people.

And conversely, if sociologists dont engage with the science that biologists are investigating, we might not be able to explain our social perspective to them, so for researchers, both perspectives are really important, she says.

In addition to utilizing erroneous genetic classifications that bias against people of color, minority populations are grossly underrepresented in human genomics research. According to Tishkoff, only one to two percent of all genomic and medical genetic research represent diverse populations.

It was shocking, she says of her initial response to discovering this.

Also shocking is why, despite considerable attention to racial disparities in health, there hasnt been more improvement.

Part of it is because the old ways of doing science have continued, says Roberts, noting that the old conceptions of racial difference dont fully take into account the myriad ways in which social inequities affect health and genes and lived environments impact each other.

It is a problem that can be tracedculturally and politicallyall the way back to the slave ships that brought captive African men, women, and children to America. Whether it can be traced back that far genetically is another story.

According to Roberts, many African Americans have turned to ancestry testing companies in an effort to make up for the loss, disconnect, and rupture caused by the slave trade.

I personally believe that African Americans identity is rooted more in a common struggle for racial equality; [more] cultural, social, and political factors [than biological ones], she says. But I do understand how many people see these technologies as providing a lost part of their identities.

Both Roberts and Tishkoff have voiced concerns publicly about the scientific flaws and limitations of current genetic testing technology.

Tishkoff says that she has received numerous emails from people in the African American community whove told her that different ancestry testing companies gave them different answers about their heritage.

Which one of them is true? they ask me. The truth is, you can have more variation amongst two ethnic groups in Africa that you have between someone from East Asia and someone from Europe, she says, [which] blows apart any idea of an African race.

Tishkoffs and Roberts joint research is among the latestand most convincingto show that the whole concept of biological race was, in fact, invented by scientists.

Its an example of how combining good genomic research and sociological understandings of race can finally help to do away with these false groupings of human beings that end up being used to support dangerous views about human inequality, says Roberts, emphasizing that, in order to combat racism on a national scale, its important for the public to understand the science of human genetic variation as well as the politics of it.

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Homepage photo: Wharton Business Radio host Dan Loney interviews Penn Integrates Knowledge (PIK) professors Sarah Tishkoff (middle) and Dorothy Roberts (right) about their collaborative research on race and human genetic variation.

Photo at top: PIK professors Dorothy Roberts (left) and Sarah Tishkoff (right) with host Dan Loney in SiriusXM's Studio for Business Radio powered by the Wharton School.

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Rooting out Flawed Genetic Classificationsand the Racial Bias Behind Them - Penn Current

Liver fibrosis is the excessive accumulation of scar tissue in the liver. It occurs when chronic damage to the liver causes inflammation and cell death, resulting in an accumulation of extracellular matrix proteins and a hardening of the liver. Diagnosis of the condition can be difficult, and treatment for advanced cases is often limited to liver transplantation. Previous work has identified that there is some genetic variation in response to liver damage and the development of liver fibrosis. Therefore, it is hoped that improvements in diagnostics and a better ability to predict prognosis could help to both identify those most at risk of fibrosis and prevent progression of the disease. A recently published study in Nature Genetics set out to identify the protein responsible for the genetic variations associated with liver inflammation and scarring. We spoke to Dr Mohammed Eslam, from the Westmead Institute, to learn more about the study and how this finding could help pave the future of diagnosis and treatment for patients.

Credit: Westmead Institute

ME: In 2015, we identified that common genetic variations associated with liver inflammation and fibrosis (scarring) were located on chromosome 19 between the IFNL3 and IFNL4 genes. However, the causative protein of this genetic area association with inflammation and fibrosis was obscure. This information was critical for any further trials to translate this finding into a potential therapeutic option. In our latest work, we discovered that IFN-3 is the causative protein of hepatic inflammation and fibrosis.

Full details of the study can be found here.

AM: What implications does this study have for the future treatment of liver fibrosis?

ME: Now that weve identified IFNL3 as the cause of liver scarring, we can work towards developing novel treatments specifically targeting this gene. This could be medicine targeting IFNL3 that is tailored to an individuals genetic makeup, but could also include modifying usual treatment depending on whether a patient has IFNL3 risk genes. Furthermore, this could be possibly even helpful in scarring in other organs such as the heart, lung and kidneys. Overall, these outcomes fulfil several promises in the modern era of precision medicine.

AM: What are some of the current challenges of detecting liver fibrosis in patients?

ME: A liver biopsy, which is a procedure in which a small needle is inserted into the liver to collect a tissue sample, is still the golden standard of assessment of liver biopsies. However, due to the limitations of this method, an active area of research is to find a non-invasive method which can predict liver fibrosis with a high degree of accuracy, with some options is currently available. Also, another challenge is the ability to predict the patients fibrosis progression rates (i.e. slow or fast) rather than just the fibrosis level at particular time point. AM: Can you tell us about the diagnostic tool you have developed, and how this will help clinicians?

ME: To translate these findings and using machine learning techniques, we have designed a diagnostic tool that incorporates IFNL3 genotyping with other simple clinical variables, which is freely available (www.fibrogene.com) for all doctors to use, to aid in predicting liver fibrosis risk.

AM: What future work do you have planned?

ME: Our team is working to extend this work to further understand the fundamental mechanisms of how IFNL3 contributes to liver disease progression and hopefully we could translate these findings into new therapeutic treatments. Mohammed Eslam was speaking to Anna MacDonald, Editor for Technology Networks.

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A Step Closer to Personalised Medicine for Liver Fibrosis - Technology Networks

June 7, 2017

The mouse lemurthe world's smallest primatehas the potential to transform the field of genetics and serve as an ideal model for a wide range of primate biology, behavior and medicine, including cardiovascular disease and Alzheimer's disease, Stanford University School of Medicine researchers say.

For decades, scientists have relied on mice, fruit flies and worms as genetic models, but despite all their success, these organisms routinely fail to mimic many aspects of primate biology, including many human diseases, said Mark Krasnow, MD, PhD, professor of biochemistry.

Frustrated by the lack of a good study model, Krasnow and his colleagues turned to the mouse lemur and began conducting detailed physiologic and genetic studies on hundreds of these petite, docile creatures in the rainforests of Madagascar.

Working in a Stanford-funded lab on the island country, the scientists report that they already have identified more than 20 individual lemurs with unique genetic traits, including obesity, high cholesterol, high blood sugar, cardiac arrhythmias, progressive eye disease and motor and personality disorders. Their hope is that continued study of these abundant primates could lead to a better understanding, and possibly better treatments, of these and other conditions in lemurs and humans.

'Huge potential'

"I think mouse lemurs have great potential for our understanding of primate biology, behavior and conservation, in the same way that fruit flies and mice over the last 30 or 40 years have transformed our understanding of developmental biology and many other areas of biology and medicine," Krasnow said. "Some of the most fascinating and important questions that need to be answered are primate-specific. For those, we really need something besides humans to complement the work that has been done in fruit flies and mice."

A paper describing the researchers' findings will be published online June 9 in Genetics. Krasnow is the senior author. Lead authorship is shared by graduate student Camille Ezran and postdoctoral scholar Caitlin Karanewsky.

The project began in 2009 when Krasnow, frustrated by the lack of a good animal model for lung diseasehis area of expertisecommissioned three high school interns to search the animal world for something better. By the end of the summer, the interns had come up with the mouse lemur, which fits all the necessary criteria: Like mice, these animals are small (about twice the size of a mouse), develop quickly, reproduce rapidly, produce many offspring, and are inexpensive and easy to maintain and manage. In genetic terms, the mouse lemur is about midway between humans and mice, Krasnow said.

"When I talk to scientists, their faces light up when I tell them about mouse lemurs because they are about the size of a mouse but they are primates, so that makes a huge difference," said Ezran, who was one of the high school interns. "I think they really do present such great potential for biological, behavioral and medical research in general."

Early on in the project, Krasnow sought out the perspective of Stanford veterinarians, ultimately recruiting Megan Albertelli, DVM, PhD, assistant professor of comparative medicine. A geneticist and primate specialist, Albertelli said she was initially skeptical of the idea of lemurs as animal models, but soon became enthusiastic after realizing their enormous potential for contributions in understanding neurologic problems, eye disease and other conditions where mouse models have fallen short.

Trip to France

She accompanied the group on a trip to France to visit with scientists who had been studying lemurs in the laboratory for years. A French team had found that some aging lemurs develop a form of dementia and accumulate plaques in the brain that resemble those of Alzheimer's patients.

"I saw that they were promising models for Alzheimer's disease," Albertelli said. "Alzheimer's is a condition that is hard to model in other animal species, so that was very exciting."

Mouse lemurs live exclusively on Madagascar, where they are found in great abundance. Tens of millions of them populate the island. While lemurs generally are endangered due to habitat destruction, mouse lemurs are not under threat and freely roam the island, said Ezran, who calls them the "rodents of Madagascar."

The Stanford researchers began to develop collaborations with other scientists studying lemurs, including those at the Centre ValBio near the Ranomafana National Park in Madagascar, who have been examining lemur ecology, family structure and behavior for decades.

During periodic visits to the island, Krasnow and his colleagues learned how to catch brown mouse lemurs in the rainforest just outside the research station, using a tiny banana slice inside a trap as a lure. The scientists then tagged and photographed each animal, gave them a thorough physical examination, analyzed them for behavioral issues and abnormalities and removed a drop of blood for detailed genetic and serum studies. The animals then were released back into the wild so the researchers could follow them over time to see how their environments may influence their progress and health. In 2013, Stanford built a sophisticated molecular biology and genetics lab within the ValBio complex, where these studies could be carried out.

'Distinctive personalities'

Lemurs have distinctive personalities, Krasnow said, and the researchers gave each one a name, based on his or her looks or behavior. For instance, one was named Feisty for his unusually aggressive nature; most lemurs are docile.

The work has led to a whole new way of doing genetic studies, said Krasnow, who is also a Howard Hughes Medical Institute investigator. Instead of using the traditional method of introducing genetic mutations into mice to create "knockout" miceor animals with customized genesthey found they were able to find naturally occurring variants among animals in the wild. Moreover, in working with lemurs in their native habitats, the researchers could better understand how the animals interact with their surroundings and the relationship between genes and the environment.

"Instead of introducing mutations in mice or fruit flies, we are doing something much more similar to what is done in humans," he said. "We are looking at all the wonderful genetic variation already existing in nature, since there are so many millions of mouse lemurs out there. We calculate that most 'knockout' mutations are already present in nature, and all we have to do is find them. And because the cost of sequencing a genome is rapidly dropping, it's now possible to sequence the genomes of thousands of mouse lemurs to see what mutations they are carrying."

In doing so, the researchers could accomplish in a few years for a tiny fraction of the cost what the International Knockout Mouse Consortium will accomplish in 10 years, at a cost of nearly $1 billion, he said.

But the project could use some additional staff, as the process of capturing the animals and screening them in the laboratory is labor-intensive, he said. He and his colleagues have come up with a multipurpose solution that will contribute to the local educational system while helping preserve the lemur populations in Madagascar, whose habitats are threatened by farming, mining and logging interests, he said.

Help from students

The group is developing a science curriculum for use in Malagasy high schools in which students learn about biology by exploring the rich environment right outside their school houses. Among the instructors is Manu Prakash, PhD, assistant professor of bioengineering at Stanford and a pioneer in the field of "frugal science," who has brought his powerful $1 paper microscopes to Madagascar and taught students how to explore the microscopic world in which they live, including the lice in their hair, the pathogens in their water and the disease-causing parasites in their environment. The curriculum was first introduced among university students, some of whom now are screening lemurs at the Stanford lab in Madagascar.

"We saw this as an opportunity because we are going over there to study the unique animals and biology and ecology of Madagascar, which is unsurpassed in the world," Krasnow said. "It is the No. 1 hotspot for biodiversity, but most of the students don't realize what they have in their backyards because they are being taught from textbooks and from teachers who have learned from Europeans."

He said the researchers hope to expand scientific curricula at all levels of education, helping train the Malagasy scientists of the future and build scientific capacity in the country, all the while creating an appreciation among the local population of the need to understand and preserve lemurs and other species for the future.

"We are trying to do this in a way that is respectful and will help the lemurs and the people of Madagascar, while enlightening many aspects of primate biology and human disease," he said.

The researchers plan to make the genetic sequencing and phenotyping information they obtain from the lemurs publicly available so that researchers around the world can take advantage of this trove of knowledge, Albertelli said.

Explore further: Three new primate species discovered in Madagascar

Scientists from the German Primate Center (DPZ), the University of Kentucky, the American Duke Lemur Center and the Universit d'Antananarivo in Madagascar have described three new species of mouse lemurs. They live in the ...

The ring-tailed lemur, an iconic primate that is emblematic of the wild and wonderful creatures inhabiting the tropical island of Madagascar, is in big trouble.

Scientists have identified two new species of mouse lemur, the saucer-eyed, teacup-sized primates native to the African island of Madagascar.

A Malagasy-German research team has discovered a new primate species in the Sahafina Forest in eastern Madagascar, a forest that has not been studied before.

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Mouse lemur could serve as ideal model for primate biology and human disease - Phys.Org

Picture a time in the not-too-distant future when whole genome sequencing is routine. A time when, before babies even learn to talk, their parents will have the ability to learn what the future may have in store for their offspring: Is their little girl predisposed to getting breast cancer? Will their happy-go-lucky son one day develop Alzheimer's?

"There is no doubt in my mind that, in addition to going in and having blood chemistry done, you're gonna have DNA sequencing done, too. It will be there at some point," says Nicholas Schork, a quantitative geneticist at the J. Craig Venter Institute in La Jolla, California, who has studied genomic medicine for more than three decades. "We can debate about the timeline, but it'll become routine."

The hope is that genetic testing will make health care more effective by allowing doctors and patients to focus on areas that need attention the patient's genetic "vulnerabilities." At the same time, patients may learn of areas where they won't need to be quite as vigilant. And treatments could, in turn, be perfectly tailored to a patient's specific needs.

But as with any significant and broadly applicable medical advance, there are questions. For example, should patients learn that they carry markers for currently incurable genetic diseases, or that they are at high risk for developing a condition like Alzheimer's, which has no effective treatment? And just who owns all that genetic data? Who will have access to it?

Even with important questions left unanswered, health educators are moving forward to take advantage of the promises genetic testing offers. Washington State University's new Elson S. Floyd College of Medicine has announced it is partnering with Arivale, a Seattle-based company that conducts whole genome sequencing, to help complete a portrait of a person a "portrait" that can be used to promote wellness over that individual's entire lifespan. Every member of the school's inaugural class will have the opportunity to undergo testing, which will also include blood tests and a lifestyle evaluation. Then, over the next year, Arivale's team of nurses and dietitians will provide individually tailored follow-up, based on each individual's risks and goals. It's a unique partnership, made possible in large part because the medical school is new, with its first class of students starting in 2017.

Allowing the medical students to experience genetic testing firsthand is just part of the goal. "We need physicians that understand it well enough that they can make it better going forward," says John Tomkowiak, founding dean of WSU's College of Medicine. "That's where our students are going to be uniquely positioned."

WHAT GENES TELL US

Genetic testing already provides important information about a person's health or their heritage. Hospitals screen newborn babies for certain genetic disorders, and in some cases, tests can detect disorders before birth. And diagnostic testing can confirm, or rule out, many disorders in adults.

Testing doesn't have to be ordered by a physician. For $200, you can provide a saliva sample, mail it back to 23andMe.com and find out not only your ancestry, but also your risks for a number of diseases, including Alzheimer's and Parkinson's. Ancestry.com offers a glimpse into your heritage for $99. Color.com claims to reveal your risk for the most common hereditary cancers, and even offers "complimentary genetic counseling" for a $249 fee.

But if genetic testing is to revolutionize the health care industry, as many have promised, there's still a ways to go. "The technology is at the beginning stages," says Thomas May, a faculty researcher for the HudsonAlpha Institute for Biotechnology.

Companies like 23andMe offer genetic tests that may provide information about some genetic disorders from currently known genetic variants. But whole genome sequencing is different; it will reveal all your individual genetic variants.

How valuable is that information? There are a relatively small number of conditions that researchers are confident result from a specific genetic variant, May says. For example, there is one variant that researchers have found is associated with an increased risk of developing breast or ovarian cancer. A genetic test that shows an increased risk for breast cancer is considered an "actionable" outcome, meaning there are things you can do to prevent the outcome, like beginning mammograms earlier. Though there are more than 50 actionable outcomes like that, it's still a relatively small number.

Adding to the confusion is the fact that not everyone who develops breast cancer actually has the genetic variant in fact, May says only about 10 percent do. So even if testing shows that you don't have the "breast cancer gene," that doesn't mean it's OK to stop getting mammograms.

"Most variants and correlations are of that type: We can't say for certain if you're gonna get a disease," May says.

Doctors are mixed about whether genetic testing is currently having a real impact on patients. In a May survey conducted by the Medscape Physician Oncology Report on Genomics Testing, 71 percent of oncologists surveyed felt that genetic testing was either "very" or "extremely" important to the oncology field. At the same time, 61 percent said that, currently, fewer than a quarter of their patients would actually benefit from genetic testing.

The number of diseases with "actionable" outcomes will inevitably grow, as more people are tested and more data becomes available. But this leaves deeper questions, says Schork, the quantitative geneticist. A company or health care provider would likely give patients information about diseases that can be prevented or cured. If someone is predisposed to obesity, for instance, then he or she can elect to receive targeted care to reduce that risk.

But what about diseases that, right now, are incurable?

Take Huntington's disease, a genetic disorder that breaks down nerve cells in the brain. It's rare, but it's a "hideous way to die," Schork says. A person can be screened at the age of 25 and be found to carry the Huntington's gene, but there's debate about whether or not that information should be shared with a client or not. The same goes for genetic variants related to Alzheimer's disease.

"If there's nothing they can do about it, then there's a concern about whether or not that information should be imparted," Schork says.

When the Food and Drug Administration ordered 23andMe to stop telling customers their odds of contracting diseases in 2013, Harvard Medical School genetics professor Robert Green and Laura Beskow, a professor at Duke University's Institute for Genome Sciences and Policy, argued against the FDA. They cited a number of studies showing that direct-to-consumer genetic testing does not cause a large percentage of customers despair. In an interview with the New York Times in April, Green said the potential for distress based on results of a genetic test for Alzheimer's was "much smaller than anticipated."

Another question: Who really owns the DNA data that is being collected from willing users of genetic testing? Consider Myriad, a company that offers genetic testing both to help determine cancer risk and design better treatment plans for patients who already have cancer. The company has something that "others do not," Schork says: insight into which genetic variants predispose women to breast cancer.

What Myriad is really selling, then, is not the genetic test itself, but access to insights it has gained through mining its database, insights that can be leveraged into whatever level of payment the company decides to charge.

It's potentially critical information that could help save a life, and some argue that the data should be in the public domain not held by a private company.

"There have been huge debates about whether the community should challenge the monopoly that Myriad has," Schork says. "There are many groups out there that would like to counteract the monopoly Myriad has, by building public domain data sets."

JUST ONE TOOL

"Genetic testing is not a blueprint. It's really not," says Jennifer Lovejoy, chief translational science officer for Arivale. "Genes are really just one factor the environment, diet, exercise, pollutants and even emotional state have a big impact on genes."

That's why Arivale not only collects genetic information on each client, but also evaluates various blood tests and lifestyle factors to create a "dense data cloud" of information about a patient.

"That is the grand vision: that everybody would have these dense, dynamic data clouds, and understand the choices that will be optimal to optimize wellness and avoid disease," says Lovejoy.

Arivale touts the success stories among its nearly 2,000 clients. One client found out he had a gene associated with high sensitivity to saturated fat, giving him a better indication of an appropriate diet that helped him lose weight. Another client discovered that his genes may have an impact on his cholesterol. Another learned he was at risk of developing diabetes.

Ideally, this type of preventive care will soon be covered by insurance, Lovejoy says. The thinking is that preventing disease will bring down the cost of health care overall, making insurers likely to cover more preventive care, "but we have to prove it," Lovejoy says. Researchers are conducting studies and trials to do just that, and if they can prove it, then genetic testing could soon be routine in health care.

"If you think about what health care should mean, it should mean, one, the ability to deal with disease and that's what everyone does today," Arivale co-founder Leroy Hood said at a press conference in April announcing the company's partnership with WSU. "But two, it should mean the ability to optimize wellness for each individual. That is, improving their health and/or letting them avoid disease." That's a concept Hood calls "scientific wellness, and he thinks it could lead to "a whole new health care industry in the future."

Tomkowiak, of WSU's College of Medicine, agrees: "The concept of scientific wellness has the potential to disrupt the entire industry by shifting the cost curve, by keeping people healthier and reducing the cost of health care overall."

Regardless of whether or not Arivale becomes an industry leader, Tomkowiak believes that the practice of medicine will be fundamentally altered in the near future.

"We absolutely believe that seven years from now, the practice of scientific medicine and scientific wellness will be common," he says. "Instead of being behind the curve, we want... to be leading this effort."

For about $3,500, clients can sign up for Arivale's program. The fee includes whole genome sequencing, which is also available from other sources. So how do Arivale clients achieve "scientific wellness"? Here are the elements of their program:

Welcome package: Clients get a welcome package with a Fitbit to track sleep, activity and heart rate. The package asks for information to help understand a client's bacteria in their gut, and asks for a sample of saliva to measure a person's stress level.

Online test: Clients take a series of online assessments about their goals, health history, lifestyle, stress, personality and happiness.

Call from coach: You'll talk to a coach who will get to know what you want to accomplish and give you a personalized action plan.

Labs: You'll take blood tests so your coach can understand your current health. While you're there, they'll take your vital signs.

A picture emerges: The various test create a picture of you, which an Arivale coach will use to provide a step-by-step plan to "optimize your wellness," according to the company.

Follow-up: You're not done yet. You'll be contacted by your coach regularly to review your action plan, and Arivale will provide reports on how you're progressing. Every six months, you'll complete another set of clinical labs.

Source: arivale.com/your-journey

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What's In Your Genes? - Pacific Northwest Inlander

This file photo shows doctors at Memorial Sloan Kettering Cancer Center in New York City.

An experimental cancer medicine called larotrectinib has shown promise treating a diverse range of cancers in people young and old, researchers said at a major cancer conference in the United States.

The treatment targets a genetic abnormality which is often found in rare cancers - including salivary gland cancer, juvenile breast cancer, and a soft tissue cancer known as infantile fibrosarcoma - which are particularly difficult to treat.

This abnormality also occurs in about 0.5 percent to one percent of many common cancers.

In the study released at the American Society of Clinical Oncology conference, 76 percent of cancer patients - both children and adults with 17 different kinds of cancer - responded well to the medicine.

A total of 79 percent were alive after one year. The study is ongoing.

Twelve percent went into complete remission from their cancer.

The clinical trial included 55 patients - 43 adults and 12 children. All had advanced cancers in various organs, including the colon, pancreas and lung, as well as melanoma.

"These findings embody the original promise of precision oncology: treating a patient based on the type of mutation, regardless of where the cancer originated," said lead study author David Hyman, chief of early drug development at Memorial Sloan Kettering Cancer Center in New York.

"We believe that the dramatic response of tumors with TRK fusions to larotrectinib supports widespread genetic testing in patients with advanced cancer to see if they have this abnormality."

Made by Loxo Oncology Inc., larotrectinib is a selective inhibitor of tropomyosin receptor kinase (TRK) fusion proteins.

TRK proteins are a product of a genetic abnormality when a TRK gene in a cancer cell fuses with one of many other genes, researchers said.

The US Food and Drug Administration has not yet approved the treatment for widespread use.

The treatment was well tolerated by patients, and the most common side effects were fatigue and mild dizziness.

"If approved, larotrectinib could become the first therapy of any kind to be developed and approved simultaneously in adults and children, and the first targeted therapy to be indicated for a molecular definition of cancer that spans all traditionally-defined types of tumors," said Hyman.

(Source:AFP)

Original post:

New cancer medicine targets rare genetic flaw - Press TV

SUNDAY, June 4, 2017 (HealthDay News) -- A twice-daily pill could help some advanced breast cancer patients avoid or delay follow-up sessions of chemotherapy, a new clinical trial reports.

The drug olaparib (Lynparza) reduced the chances of cancer progression by about 42 percent in women with breast cancer linked to BRCA1 and BRCA2 gene mutations, according to the study.

Olaparib delayed cancer progression by about three months. The drug also caused tumors to shrink in three out of five patients who received the medication, the researchers reported.

"Clearly the drug was more effective than traditional chemotherapy," said Dr. Len Lichtenfeld, deputy chief medical officer for the American Cancer Society.

"This is a group where a response is more difficult to obtain -- a young group with a more aggressive form of cancer -- and nonetheless we saw a close to 60 percent objective response rate," he said.

The study was funded by AstraZeneca, the maker of Lynparza.

Olaparib works by cutting off the avenues that malignant cancer cells use to stay alive, said lead researcher Dr. Mark Robson. He's a medical oncologist and clinic director of Clinical Genetics Service at Memorial Sloan Kettering Cancer Center in New York City.

The drug inhibits PARP, an enzyme that helps cells repair damaged DNA, Robson said.

Normal cells denied access to PARP will turn to the BRCA genes for help, since they also support the repair of damaged DNA, Robson said.

But that "backup capability" is not available to breast cancer cells in women with BRCA gene mutations, Robson said.

"When you inhibit PARP, the cell can't rescue itself," Robson said. "In theory, you should have a very targeted approach, one specifically directed at the cancers in people who have this particular inherited predisposition."

Olaparib already has been approved by the U.S. Food and Drug Administration for use in women with BRCA-related ovarian cancer. Robson and his colleagues figured that it also should be helpful in treating women with breast cancer linked to this genetic mutation.

The study included 302 patients who had breast cancer that had spread to other areas of their body (metastatic breast cancer). All of the women had an inherited BRCA mutation.

They were randomly assigned to either take olaparib twice a day or receive standard chemotherapy. All of the patients had received as many as two prior rounds of chemotherapy for their breast cancer. Women who had hormone receptor-positive cancer also had been given hormone therapy.

After 14 months of treatment, on average, people taking olaparib had a 42 percent lower risk of having their cancer progress compared with those who received another round of chemotherapy, Robson said.

The average time of cancer progression was about seven months with olaparib compared with 4.2 months with chemotherapy.

Tumors also shrank in about 60 percent of patients given olaparib. That compared with a 29 percent reduction for those on chemotherapy, the researchers said.

Severe side effects also were less common with olaparib. The drug's side effects bothered 37 percent of patients compared with half of those on chemo. The drug's most common side effects were nausea and anemia.

"There were fewer patients who discontinued treatment because of toxicity compared to those who received chemotherapy," Robson said. "Generally it was pretty well tolerated."

Only about 3 percent of breast cancers occur in people with BRCA1 and BRCA2 mutations, the researchers said in background notes.

Despite this, the results are "quite exciting," said Dr. Julie Fasano, an assistant professor of hematology and medical oncology at the Icahn School of Medicine at Mount Sinai in New York City.

Olaparib could wind up being used early in the treatment of metastatic breast cancer as an alternative to chemotherapy, and future studies might find that the drug is effective against other forms of breast cancer, Fasano said.

"It may be a practice-changing study, in terms of being able to postpone IV chemotherapy and its associated side effects" like hair loss and low white blood cell counts, Fasano said.

Lichtenfeld noted that olaparib also places less burden on patients.

"It may be easier for women to take two pills a day rather than go in for regular chemotherapy," Lichtenfeld said. "Clearly, this is a treatment that will garner considerable interest.

The findings were scheduled to be presented Sunday at the American Society of Clinical Oncology's annual meeting, in Chicago. The study was also published June 4 in the New England Journal of Medicine.

More:

Drug Helps Fight Breast Tumors Tied to 'Cancer Genes' - Sioux City Journal

An experimental cancer medicine called larotrectinib has shown promise in treating a diverse range of cancers in people young and old, researchers said at a major cancer conference in the United States.

The treatment targets a genetic abnormality which is often found in rare cancers including salivary gland cancer, juvenile breast cancer, and a soft tissue cancer known as infantile fibrosarcoma which are particularly difficult to treat. This abnormality also occurs in about 0.5% to 1% of many common cancers.

In the study released at the American Society of Clinical Oncology conference, 76% of cancer patients both children and adults with 17 different kinds of cancer responded well to the medicine.

A total of 79% were alive after one year. The study is ongoing. And 12% went into complete remission from their cancer.

The clinical trial included 55 patients 43 adults and 12 children. All had advanced cancers in various organs, including the colon, pancreas and lung, as well as melanoma.

These findings embody the original promise of precision oncology: treating a patient based on the type of mutation, regardless of where the cancer originated, said lead study author David Hyman, chief of early drug development at Memorial Sloan Kettering Cancer Center in New York.

We believe that the dramatic response of tumours with TRK fusions to larotrectinib supports widespread genetic testing in patients with advanced cancer to see if they have this abnormality.

Researchers said 76% of cancer patients both children and adults with 17 different kinds of cancer responded well to the medicine. (Shutterstock)

Made by Loxo Oncology Inc., larotrectinib is a selective inhibitor of tropomyosin receptor kinase (TRK) fusion proteins. TRK proteins are a product of a genetic abnormality when a TRK gene in a cancer cell fuses with one of many other genes, researchers said.

The US Food and Drug Administration has not yet approved the treatment for widespread use.

The treatment was well tolerated by patients, and the most common side effects were fatigue and mild dizziness.

If approved, larotrectinib could become the first therapy of any kind to be developed and approved simultaneously in adults and children, and the first targeted therapy to be indicated for a molecular definition of cancer that spans all traditionally-defined types of tumors. said Hyman.

Follow @htlifeandstyle for more

Excerpt from:

New cancer medicine targets rare genetic flaw, finds study - Hindustan Times