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By Saundra Young - CNN Medical Senior Producer

POSTED: 5:07 pm MDT May 22, 2012

UPDATED: 2:16 am MDT May 23, 2012

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Personalized Genetic Testing Not Ready

FRIDAY, May 18 (HealthDay News) -- Personal genetic testing does not lead to an increased use of health services, a new study finds.

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Gene Tests May Not Drive Patients to More Medical Care

Editor's Choice Academic Journal Main Category: Schizophrenia Also Included In: Genetics;Psychology / Psychiatry Article Date: 19 May 2012 - 9:00 PDT

Current ratings for: 'Genetic Test May Predict Risk Of Schizophrenia'

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Combined, these genes can generate a score, and determine whether an individual is at lower or higher risk of developing schizophrenia. The study, which was conducted along with a group of national and international collaborators, is published online in the journal Molecular Psychiatry.

In addition, the authors applied their top genes to data from other studies of schizophrenia and were able to successfully identify which patients had been diagnosed with the disease and which had not.

When they examined the biological pathways in which the genes were active, they also proposed a model of schizophrenia, given that the disease's underlying causes are a mix of genetic variations that affect the development of the brain and neuronal connections together with environmental factors; in particular stress.

Lead researcher, Alexander B. Niculescu III, M.D., Ph.D., associate professor of psychiatry and medical neuroscience at the IU School of Medicine, and director of the Laboratory of Neurophenomics at the IU Institute of Psychiatric Research, said:

Niculescu, who is also staff psychiatrist and investigator at the Richard L. Roudebush Veterans Affairs Medical Center, continued:

Schizophrenia is a psychiatric disease that makes it difficult for the person to distinguish between real and unreal experiences and to think logically. Approximately 1% of the population is affected by the disease, often with devastating impact.

Once the new test is refined, it could help physicians and caregivers identify which young people in families with a history of the disease are more likely to develop schizophrenia, prompting early intervention and treatment.

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Genetic Test May Predict Risk Of Schizophrenia

SAN DIEGO, May 18, 2012 /PRNewswire/ -- Sequenom, Inc. (SQNM), a life sciences company providing innovative genetic analysis solutions, today announced that a new publication from the large Women & Infants multi-center clinical study on the Sequenom Center for Molecular Medicine's (Sequenom CMM) MaterniT21 PLUS laboratory-developed test (LDT) has been published online in the peer-reviewed journal, Prenatal Diagnosis. Along with this week's publication, the Company announces that as of the week ended May 12, 2012, Sequenom CMM has processed more than 10,000 commercial MaterniT21 PLUS test samples in 2012.

The publication addresses the capability of the MaterniT21 PLUS LDT to accurately detect the presence of certain fetal trisomies in pregnant women carrying twins or triplets. The paper will appear in the journal's May issue and the full abstract can be found online at: http://onlinelibrary.wiley.com/doi/10.1002/pd.3892/abstract.

"The underlying biology and these positive study data provide evidence that this type of DNA-testing can be reliably employed as a clinical management option for women expecting twins or triplets who are at increased risk for fetal chromosome anomalies," said Allan Bombard, M.D., Laboratory Director for Sequenom Center for Molecular Medicine.

The published results are derived from the large international, multi-center study conducted at 27 prenatal diagnostic centers worldwide, with previous publications on trisomy 21 and trisomies 18 and 13 in Genetics in Medicine. Participating sites collected and processed maternal plasma samples from 4,664 pregnant women in the late first and early second trimester who were at increased risk for fetal aneuploidy. Blinded samples from pregnancies with trisomy 21, trisomy 18, and trisomy 13 as well as those with other abnormal karyotypes were tested.

In the same multi-center study, maternal plasma samples were tested from 25 twin and two triplet pregnancies. Of the twin pregnancies, there were no trisomies in 17 pregnancies (known as euploid), trisomy 21 in seven (two cases of trisomy 21 in both fetal twins, five cases of trisomy 21 in one fetal twin only), and trisomy 13 in one (in one fetal twin). There were two triplet pregnancies, neither of which had trisomies. The MaterniT21 PLUS technology correctly classified the eight twin pregnancies with trisomy 21 or trisomy 13, the 17 twin euploid pregnancies and both triplet euploid pregnancies.

"We know that, in the U.S., pregnant women carrying twins or higher multiples are becoming more common due to the use of assisted reproductive technologies and acknowledge that more of these women have increased risks for fetal aneuploidy, such as advanced maternal age," said Harry F. Hixson, Jr., Ph.D., Chairman and CEO, Sequenom, Inc. "This published data provides valuable evidence to specialists that Sequenom CMM's MaterniT21 PLUS LDT can provide reliable detection of certain fetal trisomies in twins, just as in single pregnancies."

The research was led by Jacob Canick, PhD, and Glenn Palomaki, PhD, of the Division of Medical Screening and Special Testing in the Department of Pathology and Laboratory Medicine at Women & Infants Hospital and The Warren Alpert Medical School of Brown University. The study also included scientists at Sequenom Center for Molecular Medicine, San Diego, CA.

As of the week ended May 12, Sequenom CMM has processed more than 10,000 MaterniT21 PLUS tests in 2012. Due to the successful rate of adoption, the Company recently announced that it has increased its internal goal to 40,000 MaterniT21 PLUS tests billed in 2012, up from the original internal goal of 25,000 tests billed for the year. As of the last week in April, the 52-week run rate had increased to more than 45,000 tests.

The MaterniT21 PLUS LDT is available solely through Sequenom CMM as a testing service to physicians. To learn more about the test, please visit Sequenomcmm.com.

About SequenomSequenom, Inc. (SQNM) is a life sciences company committed to improving healthcare through revolutionary genetic analysis solutions. Sequenom develops innovative technology, products and diagnostic tests that target and serve discovery and clinical research, and molecular diagnostics markets. The company was founded in 1994 and is headquartered in San Diego, California. Sequenom maintains a Web site at http://www.sequenom.com to which Sequenom regularly posts copies of its press releases as well as additional information about Sequenom. Interested persons can subscribe on the Sequenom Web site to email alerts or RSS feeds that are sent automatically when Sequenom issues press releases, files its reports with the Securities and Exchange Commission or posts certain other information to the Web site.

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Study In Prenatal Diagnosis Finds Sequenom CMM's MaterniT21™ PLUS Lab-developed Test Accurately Detects Fetal ...

Medical experts feared personal genetic test results might drive overuse of expensive medical care

The study in the May 17, 2012 early online issue of Genetics in Medicine was done by investigators with the Multiplex Initiative, a multi-center collaborative initiative involving investigators from the National Institutes of Health's Intramural Research Program, Group Health Cooperative in Seattle, and the Henry Ford Health System in Detroit.

The tests are available from a growing number of commercial producers, and health care providers have been uncertain whether people who received information only about risk would follow up by demanding diagnostic testing to monitor for predicted illnesses.

The study is the first to use electronic health records -- rather than self-reported behavior -- to measure the impact of genetic testing on the subsequent consumption of health services by commercially insured, healthy adults. Self reports, which can be affected by memory lapses and other problems, tend to be less accurate.

"We need to understand the impact of genomic discoveries on the health care system if these powerful technologies are going to improve human health," said Dan Kastner, M.D., Ph.D., scientific director and head of the National Human Genome Research Institute's (NHGRI) Division of Intramural Research. "We are still learning how to integrate new genomic discoveries into clinical care effectively and efficiently."

"There are a lot of unanswered questions about how genetic test results can be used to guide people towards making positive lifestyle and health behavior changes," said Colleen McBride, Ph.D., chief of NHGRI's Social and Behavioral Research Branch. "This study goes a long way towards bringing data to these debates and shows that people are not likely to make inappropriate demands of health delivery systems if they are properly informed about the limitations of genetic tests."

Genetic tests, such as those used in this study, can detect common variants of genes associated with modest alterations in the chances of developing particular diseases. The term multiplex refers to simultaneously performing multiple genetic tests on a single blood sample.

The study included 217 healthy people between the ages of 25 and 40 who elected to participate in genetic susceptibility testing offered by their health plan. The researchers analyzed health care usage by the participants in the 12 months before genetic testing and the 12 months following the testing. They also compared the test group's behavior with a group of about 400 similar plan members who declined the testing offer.

The researchers counted the number of physician visits and laboratory tests or procedures the people received, particularly those services associated with four of the eight conditions tested by the multiplex panel. Most of the procedures or screening tests that were counted are not among those currently recommended for people in this age group who don't have symptoms. The researchers found that participants in genetic testing did not change their overall use of health care services compared with those not tested.

All of the individuals who elected to undergo the multiplex test carried at least one at-risk genetic marker, with the majority carrying an average of nine at-risk variants. The tests performed for the Multiplex Initiative include a set of genetic variants reliably associated with an increase in disease risk and for which some corrective health behavior has been shown to prevent illness.

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Genetic Test Does Not Trigger Increased Use of Health Services

May 18, 2012

Connie K. Ho for RedOrbit.com

Recently, genetic tests have been on the rise and are offered by more and more commercial producers. While there are many opportunities for people to participate in genetic testing, this doesnt necessarily mean that people are following up on those services. These are the results found in a study that is published in the May 17 issue of Genetics in Medicine.

The study was a collaborative project by the Multiplex Initiative, which includes researchers from the National Institutes of Healths Intramural Research Program, the Group Health Cooperative, and the Henry Ford Health System. Researchers analyzed variants of genes related to diseases such as colorectal cancer, coronary heart disease, high blood cholesterol, hypertension, lung cancer, melanoma, osteoporosis, and type 2 diabetes. The study allowed researchers to better understand patients health care needs.

Our study was a best-case scenario, because we chose 15 genes reliably associated with relatively small risks for eight common diseases that health behaviors can affect, remarked lead author Dr. Robert J. Reid in a prepared statement. We hope that testing positive activates patients to make behavior changes that could lower their risk, such as quitting smoking without causing them to make many extra visits to their doctors.

The report was one of the first studies that looked at electronic health records, as opposed to self-reported behavior, to quantify the impact of genetic testing on health services chosen by adults.

We need to understand the impact of genomic discoveries on the health care system if these powerful technologies are going to improve human health, explained Dr. Dan Kastner, scientific director and head of the National Human Genome Research Institutes (NHGRI) Division of Intramural Research, in a statement. We are still learning how to integrate new genomic discoveries into clinical care effectively and efficiently.

Genetic tests are also important because they can find variants of genes related to the changes in the risk of developing a particular disease.

Understanding personalized genetic information is important because it is becoming more readily available and we need to figure out how to integrate it effectively and efficiently into the clinical care we provide, noted coauthor Dr. Eric B. Larson in a prepared statement.

The scientists hope to continue to research consumer interest of genetic testing and how that affects patients long-term health care goals.

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Few Use Follow Up Services After Genetic Testing

15-05-2012 15:25 ISH Spring Lecture Series 5/10/2012 "Genomic Medicine: Ethical, Legal & Social Implications" Technological advances have made it possible for individuals to receive vast amounts of information about their genetic susceptibility to disease. How best to integrate genomics into routine clinical care is a critical policy issue. How much and what type of information should be communicated to patients, included in their health record, and followed up on for diagnostic, preventative, and treatment purposes? What is the psychosocial impact of receiving risk information about conditions that cannot be treated or cured? To what extent should close biological relatives be informed of the implications of genetic testing? This talk will discuss these and other ethical, legal, and social issues as they relate to the practice of genomic medicine. Amy L. McGuire, JD, Ph.D. is Associate Professor of Medicine and Medical Ethics and Associate Director of Research for the Center for Medical Ethics and Health Policy at Baylor College of Medicine. Her research focuses on legal and ethical issues in genomics. She is currently studying participant attitudes toward genomic data sharing, investigators' practices and perspectives on the return of genetic research results, ethical issues in human microbiome research, and ethical and policy issues related to the clinical integration of genomics. Her research is funded by the NIH-NHGRI and the Cancer Prevention and Research Institute of Texas.

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Amy McGuire, JD, PhD, "Genomic Medicine: Ethical, Legal

By Richard Hartley-parkinson

PUBLISHED: 12:11 EST, 16 May 2012 | UPDATED: 06:42 EST, 17 May 2012

A genetic 'map' that could help give more accurate diagnoses of breast cancer has been drawn up, showing the varied landscape of the disease in more detail than ever before.

Researchers at the Wellcome Trust Sanger Institute in Hinxton, Cambridgeshire, say the development will lead to more effective treatments.

They found that rather than being a single disease, breast cancer is a diverse range of cancer species.

Scientists described nine new genes that drive the development of breast cancer, bringing the known total to 40.

The Wellcome Trust Sanger Institute has drawn up a genetic 'map' of breast cancer showing the landscape of the disease in more detail than ever before

The research, conducted by a large international team of British-led experts, involved analysing DNA from 100 tumour samples.

Scientists scoured more than 21,000 genes for cancer-causing 'driver' mutations that can turn an ordinary cell into one that multiplies uncontrollably.

They also identified nine genes previously not known to be linked to the disease.

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New genetic 'map' drawn up that will give better diagnosis for breast cancer patients and more effective treatment

A new study of the protein-coding genes in 100 breast cancer tumors revealed vast differences among the cancers and highlights how complicated the disease really is, researchers said Wednesday.

A sobering perspective on the complexity and diversity of the disease is emerging, they wrote in the online edition of the journal Nature (subscription required), which is publishing a series of studies of the genetic changes in breast cancer.

The scientists, led by Michael Stratton at the Wellcome Trust Sanger Institute in Hinxton, England, found 73 different combinations of disease-causing mutations in the tumors, each involving up to six different genes from a set of 40 driver genes.

Seven of the 40 individual driver genes were mutated in more than 10% of cases, but 33 others that were less common also contributed to the development of the cancers, the team reported. In 28 cases, a single mutation was enough to cause disease.

The researchers identified nine new genes that caused the cancers, and also found mutations in genes that were already known to cause breast and other cancers.

Discovering that a single disease breast cancer can appear in so many different guises means that developing targeted therapies tailored to a patients tumor type will remain a tall order in the near future.

The situation is more complex than anyone would like to see, said Christina Curtis, an assistant professor of preventive medicine at the Keck School of Medicine at USC and first author of another paper in Nature, released in April, that detailed several new breast cancer subcategories.

But it seems were getting closer, Curtis added. With each study were getting a new vantage point.

Curtis said that finding new driver genes and new combinations of driver genes could still eventually pave the way to new treatment options, once researchers dig further and figure out exactly how the different combinations of mutations change cellular function, causing cancer.

Her team at USC is working on techniques to examine mutations in single cells, which will let scientists study genetic variation within tumors as well as between then.

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Breast cancer study reveals 'substantial genetic diversity'

Every few days my Google Alerts have been dropping in my inbox reviews of Harry Osters Legacy: A Genetic History of the Jewish People. The latest is in the The Tablet, A Case for Genetic Jewishness:

For a Jewish genetics researcher, being told inprintthat Hitler would certainly have been very pleased by your work cant be pleasant. But thats what happened in 2010 toHarry Ostrer, a geneticist at the Albert Einstein College of Medicine, when he and his colleagues published astudyshowing that Jews in three different geographical areas had certain collections of genes that made them more biologically similar to one another than they were to non-Jews in the same regions. The work also showed that Jews around the world could trace their ancestry to a group of people who lived in the Middle East 2,000 years ago; that meant, however, that certain genetic signatures could be used to identify Jews, indicating that Jews share a common biological identity beyond their religious affiliationwhich is what inspired the Hitler crack.

I dont plan on reading Legacy because I already read the paper which it is based on, Abrahams Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry. It is now open access, so you can read it too. As implied in the article in The Tablet the biggest finding in this paper is that most of the worlds Jewry seem to share tracts of the genome which are identical by descent (IBD). You dont have to be a geneticist to intuit that being IBD implies relatively recent and elevated shared descent from a common set of ancestors. In particular the authors were looking for segments of the genome where individuals shared the same sequence of genetic markers. Very long sequences indicate a relatively recent common ancestor, while many short ones suggest more distant but numerous common ancestors.

From looking at these patterns of relatedness the authors infer that despite the genetic variation in the modern Jewry, most of the worlds Jews, from Iran to Morocco to Lithuania, share common ancestry from a source population which flourished ~2,500 years ago. All that being said, genetics is only part of the puzzle here. In the discussion the authors suggest that Yet, the sharing of Iranian and Iraqi Jews of a branch on the phylogenetic tree with the Adygei suggests that a certain degree of admixture may have occurred with local populations not included in this study. I argue in my post The Assyrians and Jews: 3,000 years of common history, a clear and distinct category of Jew as opposed to generic North Levantine in the year 500 BC probably does not make biological sense, though it might make culturally sense (and generic North Levantine is obviously not accurate, as most of these individuals had strong tribal or ethnic identities at the time). Finally, I dont think I highlighted in my earlier commentary that these data imply that the rise of Christianity and Islam fundamentally stabilized the genetics of the Jewish people, insofar as much of the admixture upon the core base in the peripheral populations seems to predate the rise of these religious civilizaitons. Once Christianity and Islam marginalized the Jews, the gene flow from non-Jews to Jews diminished greatly. This is curiously analogous to the cultural involution which Jews also underwent during this period.

Link:

Abraham’s genetic threads | Gene Expression

Researchers may be closing in on diseases inherited component

Web edition : 1:40 pm

Schizophrenias elusive genetic roots may finally be within grasp. A new, wide-ranging effort has uncovered a set of DNA signatures that are shared by people with the disease consistently enough that the set can be used to reliably predict whether someone has the disease. If replicated, the results may point out ways to diagnose schizophrenia and suggest new targets for treatment.

By analyzing a battery of 542 genetic variants, researchers could predict who had schizophrenia in a group of European Americans and African Americans. The confirmation of the result in people of varying ancestry suggests that the set of genes truly does detect the core features of the disorder, scientists report online May 15 in Molecular Psychiatry.

Genetic studies in psychiatry tend to produce initial excitement but are then not reproduced in independent populations, which is the most important proof that a finding is solid and real, says study coauthor Alexander Niculescu of the Indiana University School of Medicine in Indianapolis.

Niculescu and his colleagues created their gene panel by assessing a slew of earlier studies on schizophrenia: Data from humans and animals on gene variation and gene behavior all fed into the teams analysis. If a gene popped out of several different datasets, the reasoning went, it is probably important to schizophrenia. Niculescu compares this method called convergent functional genomics to an Internet search: The more links to a web page, the higher it comes up on your search list.

After sifting through all of this data, the team identified some top candidates, some already known to be related to schizophrenia (DISC1, a known culprit, sits at the top of the list) and a handful that have never before been linked to the disease.

Link:

Schizophrenia’s core genetic features proposed

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In Sperm Banks, a Matrix of Untested Genetic Diseases

Public release date: 14-May-2012 [ | E-mail | Share ]

Contact: Jim Dryden jdryden@wustl.edu 314-286-0110 Washington University School of Medicine

Researchers at Washington University School of Medicine in St. Louis have developed a genetic test that can accurately predict whether the most common form of eye cancer will spread to other parts of the body, particularly the liver.

In 459 patients with ocular melanoma at 12 centers in the United States and Canada, the researchers found the test could successfully classify tumors more than 97 percent of the time.

The study will appear in an upcoming issue of the journal Ophthalmology, but is now online.

"When the cancer spreads beyond the eye, it's unlikely any therapy is going to be effective," says principal investigator J. William Harbour, MD. "But it's very possible that we can develop treatments to slow the growth of metastatic tumors. The real importance of this test is that by identifying the type of tumor a patient has, we can first remove the tumor from the eye with surgery or radiation and then get those individuals at high risk into clinical trials that might be able to help them live longer."

Harbour believes the test should allow ocular oncologists to quickly evaluate the risks associated with particular tumors and to begin treatment the moment they can detect any spread of the cancer.

Melanoma of the eye is relatively rare, diagnosed in about 2,000 people in the United States each year. Advances in treatment have allowed surgeons to preserve patients' vision, but when cancer spreads beyond the eye, it often is deadly.

About a decade ago, Harbour, the Paul A. Cibis Distinguished Professor of Ophthalmology and Visual Sciences, began using gene expression profiling to monitor the activity of thousands of genes in and around ocular melanoma tumors.

"At the time, we were surprised to see that based on these gene expression profiles, the tumors clustered into two groups that corresponded, almost perfectly, to patients whose cancer spread and those whose cancer was confined within the eye," says Harbour, who directs Washington University's Center for Ocular Oncology. "Tumors with a class 1 gene expression profile, or 'signature,' very rarely spread, but those with a class 2 profile frequently develop into metastatic cancer."

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Genetic test identifies eye cancer tumors likely to spread

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In Sperm Banks, a Roll of the Genetic Dice

In households across the country, children conceived with donated sperm are struggling with serious genetic conditions inherited from men they have never met: heart defects, spinal muscular atrophy, neurofibromatosis type 1 and fragile-X syndrome the most common form of mental retardation in boys and others.

Donated eggs pose a risk as well, but the threat of genetic harm from sperm donation is arguably much greater. Sperm donors are no more likely to carry genetic diseases than anybody else, but they can father a far greater number of children: 50, 100 or even 150, each a potential inheritor of flawed genes.

Sharine and Brian Kretchmar of Yukon, Okla., tried a number of medical treatments to conceive a second child.

After a depressing series of failures, they were advised by a doctor to find a sperm donor. For more than a year, the Kretchmars researched sperm banks and donors. The donor they chose was a family man, a Christian like them, they were told. Most important, he had a clean bill of health. So the Kretchmars jumped in. After artificial insemination, Sharine Kretchmar became pregnant, and in April 2010, she gave birth to a boy they named Jaxon.

But the baby failed to have a bowel movement in the first day or so after birth, a sign to doctors that something was wrong. Doctors returned with terrible news: Jaxon appeared to have cystic fibrosis.

"We were pretty much devastated," Sharine Kretchmar said.

Genetic testing showed that Jaxon did carry the genes for cystic fibrosis. Sharine Kretchmar, 33, had no idea she was a carrier and was shocked to discover that so, too, was the Kretchmars' donor.

His sperm, they would discover, was decades old, originally donated at a laboratory halfway across the country and frozen ever since. Whether it was properly tested is a matter of dispute.

Experience not unique

Sadly, the Kretchmars' experience is not unique.

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Given number of inheritors, donor sperm carries risk of genetic harm

May 11, 2012

Connie K. Ho for RedOrbit.com

Researchers at Loyola University Chicagos Stritch School of Medicine have found that patients see both benefits and risks from direct-to-consumer genetic tests. Dr. Katherine Wasson, a specialist on the ethics of direct-to-consumer genetic tests, and colleagues conducted the experiment. The study, published in the American Journal of Bioethics Primary Research, showed that the patients were concerned about the end game of the genetic test results.

There are a few companies, such as 23andMe, deCODE Genetics and Navigenics, that currently test consumers for single gene disorders like cystic fibrosis; complex disorders with multiple genes like cancer, heart disease, and diabetes; traits like hair color, eye color, and baldness; as well as allergies to drugs like Coumadin for a fee ranging from $100 to $1,500. Normally, consumers can order these tests directly and receive the exams without having to go through a health-care professional like a geneticist or a genetic counselor.

In the study, the researchers conducted four focus groups with 29 participants who were primary care patients at Loyola University Medical Center. After they received information about the direct-to-consumer genetic testing, they were to give their opinions on the exams. The focus groups lasted about an hour and a half to two hours, with much of the answers being recorded and transcribed. Following the focus groups, researchers read and analyzed transcripts of the sessions and looked for themes that came out from the data.

Even though direct-to-consumer genetic tests werent covered under insurance, many of the participants were willing to pay the $10 to $20 price and a few of them were willing to pay up to $100 to $400.

This situation could exacerbate inequalities in the health-care system, with those having greater financial resources being able to access this elective health-related information while those with fewer resources are unable to pay for it, noted the researchers in the report.

Participants in the focus groups also stated that they were interested in having their children tested, including those who were adopted or were from foster homes. They believed that the tests would provide useful information for the future. However, this perspective is not shared by medical professionals who recommend that children should only be tested if theres a disease to be investigated; otherwise, children should wait until they are adults to be tested.

Children could be tested without understanding its implications, and parents might take actions that are inappropriate and potentially harmful, based on results without consulting a qualified health professional, explained the researchers in the article.

The researchers also found that there were four main reasons participants were involved in the study. In particular, they hoped to gain more information, seek prevention, seek intervention, and to help others. They also mentioned concerns about testing, including questions regarding the accuracy of the tests, the interpretation of the exams, the ethical issues raised with the tests, as well as the ability to share the testing information with consumers physicians.

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Focus Groups Share Thoughts on Direct-To-Consumer Genetic Tests

Scientists have uncovered genetic signs that could help doctors predict how breast cancer patients will respond to chemotherapy.

Researchers led by McMaster University biochemist John A. Hassell found two sets of genes that could indicate the presence of higher levels of two proteins targeted by commonly used chemotherapy drugs.

They reported their results in a paper published Thursday in the journal BMC Medical Genomics.

Hassell and his colleagues focused on the enzyme TOP2A or the protein beta-tubulin, which are targeted by anthracycline and taxane chemotherapy drugs, respectively. Without those targets, the chemotherapy won't work.

The researchers built their 'gene expression signatures' by looking at the expression levels - how often the genes are transcribed - of genes that correlated with the expression levels for the genes encoding TOP2A and beta-tubulin.

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If the signature indicates a patient's tumor is making a lot of TOP2A and beta-tubulin, there's a good chance that chemotherapy will be more effective. And on the flip side, if a patient's genetic signature indicates that chemotherapy wouldn't be as successful, doctors can avoid giving the patient a treatment that would do more harm than good.

Using data for a group of 488 breast cancer patients, Hassell and his team found they could use these genetic signatures to accurately predict if anthrocycline or taxane drugs had successfully obliterate a patient's cancer.

"This is all in the realm of personalized medicine," Hassell said in a telephone interview.

Hopefully, finding these kinds of genetic indicators will mean that eventually a breast cancer patient can be treated with a chemotherapeutic agent tailored to her particular type of breast cancer, according to Hassell.

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Genetic ‘Signature’ Predicts Breast Cancer Chemotherapy Response: Study

Public release date: 11-May-2012 [ | E-mail | Share ]

Contact: Dianne G. Shaw dgs@med.unc.edu 919-966-7834 University of North Carolina School of Medicine

Cancer therapies targeting specific molecular subtypes of the disease allow physicians to tailor treatment to a patient's individual molecular profile. But scientists are finding that in many types of cancer the molecular subtypes are more varied than previously thought and contain further genetic alterations that can affect a patient's response to therapy.

A UNC-led team of scientists has shown for the first time that lung cancer molecular subtypes correlate with distinct genetic alterations and with patient response to therapy. These findings in pre-clinical models and patient tumor samples build on their previous report of three molecular subtypes of non-small cell lung cancer and refines their molecular analysis of tumors.

Their findings were published in the May 10, 2012 online edition of the Public Library of Science One.

Study senior author, Neil Hayes, MD, MPH, associate professor of medicine, says, "It has been known for about a decade of using gene expression arrays that "molecular subtypes" exist. These subtypes have molecular "fingerprints" and frequently have different clinical outcomes. However, the underlying etiologies of the subtypes have not been recognized. Why do tumors form subtypes?

"Our study shows that tumor subtypes have different underlying alterations of DNA as part of the difference. These differences are further evidence of the importance of subtypes and the way we will use them. For example, the mutations are different which may imply much more ability to target than previously recognized. Also, we are starting to get a suggestion that these subtypes may reflect different cells of origin that rely on different cancer pathways. This is further unlocking the diversity of this complex disease." Hayes is a member of UNC Lineberger Comprehensive Cancer Center.

The team first defined and reported in 2006 on three lung cancer molecular subtypes, named according to their genetic pattern bronchoid, squamoid and magnoid.

In this PLoS One paper they sought to determine if distinct genetic mutations co-occur with each specific molecular subtypes. They found that specific genetic mutations were associated with each subtype and that these mutations may have independent predictive value for therapeutic response.

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Molecular subtypes and genetic alterations may determine response to lung cancer therapy

Public release date: 9-May-2012 [ | E-mail | Share ]

Contact: Joseph Caspermeyer Joseph.Caspermeyer@asu.edu Arizona State University

Infectious diseasesboth old and newcontinue to exact a devastating toll, causing some 13 million fatalities per year around the world.

Vaccines remain the best line of defense against deadly pathogens and now Kathryn Sykes and Stephen Johnston, researchers at Arizona State University's Biodesign Institute, along with co-author Michael McGuire from the University of Texas Southwestern Medical Center are using clever functional screening methods to attempt to speed new vaccines into production that are both safer and more potent.

In a recent study appearing in the journal Proteome Science, the group used high-throughput methods to identify a modulator of immune activity that exists naturally in an unusual pathogen belonging to the Poxviridae family of viruses.

Parapoxvirus infection causes immune cell accumulation at the site of infection; direct screening in the host for this biological activity enabled the isolation of an immunomodulatorlabeled B2. Indeed, B2 by itself causes immune cell accumulation at the site of skin injection. When added to a traditional influenza vaccine, B2 improves the vaccine's protective capacity. Furthermore, the immunomodulator also demonstrated the ability to shrink the size of cancerous tumors, even in the absence of any accompanying specific antigen.

In the past, the process of vaccine discovery involved the random selection of naturally attenuated strains of viruses and bacteria, which were found to provide protection in humans. Examples of this approach include the use of vaccinia to protect against smallpox and attenuated mycobacterium bovis (BCG) to protect against tuberculosis.

In recent years, many vaccines have been developed using only selected portions of a given pathogen to confer immunity. These so-called subunit vaccines have several advantages over whole pathogen vaccines. Genetic components that allow a given pathogen to elude immune detection for example may be screened out, as well as any factors causing unwanted vaccine side effects. Through careful screening, just those elements responsible for eliciting protective immune responses in the host can be extracted from the pathogen and reassembled into an effective, safer subunit vaccine.

In practice, the process of narrowing the field of promising subunit candidates from the whole genome of a pathogen has often been time consuming, laborious and perplexing. In the current study, their earlier-developed strategy, known as expression library immunization, is extended to develop a scheme to find the protein-encoding segmentsknown as open reading frames (ORFs)from a pathogenic genome that have any biological function of interest.

This simple, yet powerful technique uses the host's immune system itself to rapidly reduce any pathogenic genome (viral, fungal, bacterial or parasitic) to a handful of antigens capable of conferring protection in the host.

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Advanced genetic screening method may speed vaccine development

Michael Pacanowski, PharmD, MPH; Shashi Amur, PhD; Issam Zineh, PharmD, MPH Author Affiliations: Genomics Group, Office of Clinical Pharmacology, Office of Translational Sciences, Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, Maryland.

Treatment of chronic hepatitis C (CHC) is a prototype for personalized medicine. Combination therapy with peginterferon alfa plus ribavirin was the standard of care for more than a decade. Greater understanding of the disease and determinants of treatment response have improved sustained virologic response (SVR) rates from less than 10% with interferon alfa in the 1990s to more than 80% with contemporary triple therapy regimens that include direct acting antivirals (DAAs) (Figure). Patient-specific factors such as viral genotype and early on-treatment responses are considered in therapeutic individualization. New approaches to search the human genome for predictors of drug response led to the discovery that single-nucleotide polymorphisms (SNPs) near the host IL28B gene are among the strongest predictors of response to peginterferon alfa and ribavirin. This Viewpoint discusses the evolution of CHC pharmacogenetics, its real-time incorporation into recent regulatory science evaluations, and its application in future drug development.

cDNA indicates complementary

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New Genetic Discoveries and Treatment for Hepatitis C [Viewpoint]