New York, NY (PRWEB) February 11, 2014

The Icahn School of Medicine at Mount Sinai today announced the launch of a more accurate carrier screening test for spinal muscular atrophy (SMA), one of the most common and severe autosomal recessive disorders. This new test will help prospective parents more effectively identify whether they carry the mutation that will affect their offspring. The test screens for genetic variation discovered by Mount Sinai researchers, which has been demonstrated to identify silent carriers of SMA in certain populations with higher accuracy and offers more accurate risk estimates than existing tests in all ethnic groups tested. Mount Sinai will be licensing the new test to other clinical laboratories to facilitate access to more accurate SMA carrier screening for as many people as possible.

SMA is an autosomal recessive disease that affects about 1 in 10,000 people and is one of the most deadly genetic diseases among infants and toddlers. It is transmitted by carrier parents who have no symptoms themselves; as many as 1 in 35 people may carry an SMN1 gene mutation, which is the gene that is defective in SMA. The disease kills nerve cells in the spinal cord, causing progressive degeneration among patients and diminishing capacity for walking, breathing, and swallowing. Severe forms of SMA are fatal, and there is currently no cure for the disease.

Scientists at the Mount Sinai Genetic Testing Laboratory recently used next-generation DNA sequencing to discover a new SMN1 genetic pattern that more accurately predicts the risk of having children with this disease. Current SMA carrier screening tests may result in false negative results due to their inability to detect silent carriers with two copies of the SMN1 gene on one chromosome and no copies on the other. The Mount Sinai Genetic Testing Laboratorys patent-pending enhanced SMA test identifies a novel haplotype that successfully distinguishes those duplicated genes. This work, which was conducted by Mount Sinai scientists and published in Genetics in Medicine in June 2013, significantly improves detection rates in the Ashkenazi Jewish population and improves risk estimates after a negative carrier screen for SMA in all ethnic groups.

People who choose to undergo carrier screening for spinal muscular atrophy do so to ensure that their future children will not suffer from this debilitating disease. It is important to provide patients with the most accurate risk estimates possible, said Lisa Edelmann, PhD, Director of the Mount Sinai Genetic Testing Laboratory. Launching this enhanced test based on our recent scientific findings on SMN1 will provide more meaningful answers to these prospective parents, and it can also provide new information to people who have previously been screened with existing SMA carrier tests.

The new test will be performed by the Genetic Testing Laboratory for all patients undergoing carrier screening for SMA. In addition, Mount Sinai will actively license the test to as many third-party clinical laboratories as possible.

This enhanced SMA carrier screening test shows the tremendous value in Mount Sinais approach to translational research, said Robert Desnick, MD, PhD, Dean for Genetics and Genomic Medicine, Professor and Chairman Emeritus of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. What began as a basic research project to identify founder alleles for Ashkenazi Jewish SMA carriers has resulted in a test that outperforms existing screening methods and offers real clinical benefit to the hundreds of thousands of people who will be screened by Mount Sinai or any of our licensees around the world.

About the Mount Sinai Health System The Mount Sinai Health System is an integrated health system committed to providing distinguished care, conducting transformative research, and advancing biomedical education. Structured around seven member hospital campuses and a single medical school, the Health System has an extensive ambulatory network and a range of inpatient and outpatient servicesfrom community-based facilities to tertiary and quaternary care.

The System includes approximately 6,600 primary and specialty care physicians, 12-minority-owned free-standing ambulatory surgery centers, over 45 ambulatory practices throughout the five boroughs of New York City, Westchester, and Long Island, as well as 31 affiliated community health centers. Physicians are affiliated with the Icahn School of Medicine at Mount Sinai, which is ranked among the top 20 medical schools both in National Institutes of Health funding and by U.S. News & World Report.

For more information, visit http://www.mountsinai.org, or find Mount Sinai on Facebook, Twitter and YouTube.

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Mount Sinai Genetic Testing Laboratory Launches More Accurate Carrier Screening Test for Spinal Muscular Atrophy

PHILADELPHIA New research is adding to a growing body of evidence showing the effects that genetics, cholesterol and other lipids in the blood have on coronary heart disease (CHD). Previous research has shown elevated levels of low-density lipoprotein cholesterol (LDLc, commonly known as bad cholesterol) are known to cause heart disease, but the effects of other lipids such as high-density lipoprotein cholesterol (HDLc, or good cholesterol) and triglycerides (TG) have been less clear. In a new study, published online in the European Heart Journal, an international team led by researchers at the Perelman School of Medicine at the University of Pennsylvania and the Childrens Hospital of Philadelphia, used a novel genetics approach integrated with cardiovascular outcomes and lipid data taken fromblood samples from study participants to target specific lipids in the blood. The approach allowed the team to rule out other behavioral or environmental factors that may contribute to heart disease. The results are lending support to existing evidence showing that levels of TG are likely associated with risk of heart disease, while elevated levels of HDLc alone do not provide protection against CHD.

These results contribute to our current understanding of which blood lipids cause heart disease and which ones dont, said Michael Holmes, MD, PhD, research assistant professor of Surgery in the division of Transplant at Penn Medicine. Knowing that LDLc and TG contribute to an increased CHD risk allows health care providers to better offer individualized treatment plans with drugs that specifically target those lipids.

Results of the new study were gathered using a recently developed tool called Mendelian randomization (MR), which identifies genes responsible for particular diseases and analyzes genetic variations, while ruling out other behavioral or environmental variables that can be difficult to adjust for in study design. Using genetic risk scores, researchers analyzed genetic data from 62,199 participants in 12 previous studies. More than 12,000 of the participants were found to have experienced an event related to coronary heart disease (CHD).

After analyzing the genetic data, the results of the new study not only confirm that higher levels of LDLc are more likely to cause heart disease, but also show that high levels of TG also cause a higher risk of heart disease, a finding that has previously only been speculated upon. At the same time, there was little evidence to suggest that higher levels of HDLc provided protective effects against heart disease.

While the findings provide an important contribution to existing knowledge on blood lipid traits and risk of CHD, the authors suggest further studies using emerging technologies in the genomics arena are needed to precisely understand the role specific lipids and genetic predispositions play in a patients risk of CHD.

Its still not clear exactly what role HDLc plays in a patients risk of heart disease, or to what extent said senior author Brendan Keating, PhD, research assistant professor of Pediatrics and Surgery at Penn Medicine and lead clinical data analyst in the Center for Applied Genomics at The Childrens Hospital of Philadelphia. This requires further testing with new methods like Mendelian randomizing that can account for behavioral or environmental factors and focus specifically on the effects of those cholesterol subtypes.

Funding for the study came was provided by multiple sources, including the National Institutes of Health (grants N01-HC-65226, HL36310 and NHLBI33014), the UK Medical Research Council and the British Heart Foundation.

For more information on the study design and results, please see the full press release.

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Penn Medicine and CHOP Study: New Genetic Analysis Confirms Connection Between Cholesterol and Heart Disease

What is a genetic disease?

A genetic disease is any disease that is caused by an abnormality in an individual's genome. The abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations occur either randomly or due to some environmental exposure.

There are a number of different types of genetic inheritance, including the following four modes:

Single gene inheritance, also called Mendelian or monogenetic inheritance. This type of inheritance is caused by changes or mutations that occur in the DNA sequence of a single gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births. These disorders are known as monogenetic disorders (disorders of a single age).

Some examples of monogenetic disorders include:

Single-gene disorders are inherited in recognizable patterns: autosomal dominant, autosomal recessive, and X-linked.

Medically Reviewed by a Doctor on 1/15/2014

Genetic Disease - Symptoms Question: What were the symptoms of a genetic disease in you or a relative?

Genetic Disease - Screening Question: Have you been screened for a genetic disease? Please share your story.

Genetic Disease - Personal Experience Question: Is there a genetic disease in your family? Please share your experience.

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Genetic Disease Causes, Types, and Conditions Information ...

Welcome to Genetics in Medicine

Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics, offers an unprecedented forum for the presentation of innovative, clinically relevant papers in contemporary genetic medicine. Stay tuned for cutting-edge clinical research in areas such as genomics, chromosome abnormalities, metabolic diseases, single gene disorders and genetic aspects of common complex diseases.

Instructions to Authors Here you will find all the information you need to submit your manuscript including details on word limits. Submit your manuscript here.

Open Access Genetics in Medicine now offers authors the option to publish their articles with immediate open access upon publication.

Volume 16, No 2 February 2014 ISSN: 1098-3600 EISSN: 1530-0366

2012 Impact Factor 5.560* Rank: 20/161 Genetics & Heredity

Editor-in-Chief: James P. Evans, MD, PhD

*2012 Journal Citation Report (Thomson Reuters, 2013)

December's Genetics in Medicine podcast examines the public health implications of Angelina Jolie's op-ed in the New York Times in May, 2013. In the piece, Jolie reported on her decision to get tested for a mutation of the BRCA gene based on a family history of breast and ovarian cancer; when she tested positive, she then underwent a double mastectomy. Two studies in Genetics in Medicine evaluate the response: one analyzes the media coverage of Jolie's announcement, while the second investigates the public's knowledge of Jolie's situation and understanding of genetics and risk. Listen here for more.

View the most recent special issue on incidental findings, and many other special issues!

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Genetics in Medicine - Nature

PUBLIC RELEASE DATE:

9-Feb-2014

Contact: News & Information Office press.office@admin.ox.ac.uk 44-018-652-80530 University of Oxford

Seven new genetic regions associated with type 2 diabetes have been identified in the largest study to date of the genetic basis of the disease.

DNA data was brought together from more than 48,000 patients and 139,000 healthy controls from four different ethnic groups. The research was conducted by an international consortium of investigators from 20 countries on four continents, co-led by investigators from Oxford University's Wellcome Trust Centre for Human Genetics.

The majority of such 'genome-wide association studies' have been done in populations with European backgrounds. This research is notable for including DNA data from populations of Asian and Hispanic origin as well.

The researchers believe that, as more genetic data increasingly become available from populations of South Asian ancestry and, particularly, African descent, it will be possible to map genes implicated in type 2 diabetes ever more closely.

'One of the striking features of these data is how much of the genetic variation that influences diabetes is shared between major ethnic groups,' says Wellcome Trust Senior Investigator Professor Mark McCarthy from the University of Oxford. 'This has allowed us to combine data from more than 50 studies from across the globe to discover new genetic regions affecting risk of diabetes.'

He adds: 'The overlap in signals between populations of European, Asian and Hispanic origin argues that the risk regions we have found to date do not explain the clear differences in the patterns of diabetes between those groups.'

Among the regions identified by the international research team are two, near the genes ARL15 and RREB1, that also show strong links to elevated levels of insulin and glucose in the body two key characteristics of type 2 diabetes. This finding provides insights into the ways basic biochemical processes are involved in the risk of type 2 diabetes, the scientists say.

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Seven new genetic regions linked to type 2 diabetes

Genome sequencing holds great potential for diagnosing diseases, finding treatments and ultimately cutting medical costs, experts say, but insurance companies are leery of covering the still-new procedure, preventing it so far from becoming a routine part of medical care.

Boston-based Partners HealthCare is one of just two systems in the country to offer full genome sequencing for clinical patients. The out-of-pocket cost of unlocking your full genetic code, though, is steep: $9,000.

Cost is a barrier, said Heidi Rehm, chief laboratory director at the Partners Center for Personalized Genetic Medicine in Cambridge.

The lab started offering full genome sequencing last August using blood samples to extract information from DNA but it has done the complex analysis for fewer than half a dozen patients since then. Insurance companies didnt cover the costs for any of those patients, Rehm said.

For patients suffering from a range of diseases, from cancer to hearing loss, sequencing can help identify the gene causing the problem and help doctors determine which treatments will be most effective. Genetic sequencing can also tell patients if theyre at risk of developing certain conditions later in life.

The challenge for scientists like Rehm is to prove that this kind of analysis is useful not just for sick patients but for healthy ones.

Can I say every patient should get their genome sequenced? We just dont have the collective evidence and the studies to prove that today, Rehm said. So the insurers are not going to cover everything today.

Insurance companies do pay for some genetic tests those that test specifically for a patients risk of developing breast cancer, for example but theyre still evaluating the benefit of full genome sequencing, which involves much more data and analysis.

We dont have a lot of information yet to make sweeping decisions, said Dr. Neil Minkoff, medical director for the Massachusetts Association of Health Plans. We tend to look at the individual patient or individual physicians request. Its still early in our experience with it.

The states three largest insurers, Blue Cross Blue Shield, Harvard Pilgrim Health Care and Tufts Health Plan, did not respond to requests for comment.

Continued here:
Gene screen eyes mainstream

New genetic evidence strengthens the case that one well-known type of cholesterol is a likely suspect in causing heart disease, but also casts further doubt on the causal role played by another type. The findings may guide the search for improved treatments for heart disease.

Most of us have heard of "good cholesterol" and "bad cholesterol" coursing through our bloodstream. In the conventional health wisdom of the past 30 years, having more of the "good" variety (high-density lipoprotein, or HDL) lowers your risk of heart disease, while more of the bad one (low-density lipoprotein, LDL) increases your risk. Indeed, over the years, clinical trials and other studies have found that drugs that lower LDL also lower your probability of heart disease.

On the other hand, drug trials have not shown heart-health benefits to increasing HDL or to lowering triglycerides, a third type of blood lipid. Now a new study co-led by scientists at The Children's Hospital of Philadelphia and Penn Medicine sheds light on the role of genes and blood lipid levels in cardiovascular health. Newer tools for gene analysis show how variations in DNA are underlying actors affecting heart disease -- a major worldwide cause of death and disability.

"Now we are able to pinpoint gene signals that actually cause some of these conditions," says geneticist Brendan J. Keating, D. Phil., of The Center for Applied Genomics at The Children's Hospital of Philadelphia. "Unraveling how genetic variants that influence lipid traits are related to heart disease risk is a step toward designing treatments." Keating and his colleagues, working in large international collaborative groups, are wielding advanced gene-analysis tools to uncover important clues to heart disease.

Keating collaborated with clinical epidemiologist Michael V. Holmes, M.D., Ph.D., of the Perelman School of Medicine at the University of Pennsylvania, in a blood lipid study published online Jan. 27 in the European Heart Journal. Research co-authors were from six countries and various centers, including the University College London in the U.K.

The study team used a recently developed epidemiology tool called Mendelian randomization (MR). MR analyzes genetic variations using a method that identifies genes responsible for particular diseases, independent of confounding factors such as differences in behavior or environmental influences that often limit the conclusions of epidemiology research. This was one of the largest studies to date using MR, as well as the largest to use an allele-score method, described below.

The researchers analyzed DNA data from 17 studies including over 60,000 individuals, of whom more than 12,000 had experienced coronary heart disease, including heart attacks. Because previous studies had found signals from nearly 200 genes to be associated with blood lipid levels, the study team aggregated data into composite groups, called allele scores, for each of three blood lipids: LDL, HDL and triglycerides, then calculated their relationship to coronary heart disease.

As expected, the current study confirmed that higher levels of LDL, the "bad cholesterol," were more likely to cause heart disease. But there were new results: high levels of triglyceride also caused higher risk of heart disease. At the same time, there was little evidence that higher levels of HDL, the "good cholesterol," had a protective effect.

The novelty of their approach, say the authors, lies in their use of a gene score MR analysis using individual participant data. These results build on previous findings and help clarify in further detail the separate roles of triglycerides and HDL in risk for coronary heart disease.

Previous genetic studies, including by Keating and others, found associations among gene variations (single nucleotide polymorphisms, or SNPs) and heart disease, but did not indicate causality, as found in the current study. Holmes said, "These findings are important in understanding which blood lipids cause heart disease, and will enable clinicians to better target those lipids with drugs to reduce the risk of heart disease."

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Genetic signals affecting lipid levels used to investigate heart disease risk

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FEB. 10, 2014

BY SARA WYKES

Euan Ashley

A small group of patients at Stanford Hospital & Clinics and Lucile Packard Children's Hospital Stanford now can have their DNA deciphered as part of a new pilot program.

The goal of the program, the Clinical Genomics Service, is to help doctors better diagnose and treat genetic conditions. In the pilot phase, genomic testing will be limited to patients with "mystery" diseases (typically children), patients with unexplained hereditary cancer risk, patients with inherited cardiovascular or neurological disease, and those with severe, unexplained drug reactions. Potential participants must be referred by a physician, and the clinical genomics team will then determine whether patient cases are suitable for sequencing.

"I am very excited to bring the pioneering work of Stanford genomic scientists directly to the bedside of our patients," said Euan Ashley, MCRP, DPhil, associate professor of medicine and of genetics and co-director of the new Clinical Genomics Service. "Because of the foresight and support of our leadership, we have a remarkable opportunity to bring world-leading Stanford science to Stanford patients fast and first."

The service will use an integrated approach that includes professional genetic counseling, the most advanced genome sequencing technology available and expert interpretation by molecular genetic pathologists and other physicians with expertise in this emerging and complex field. It will be closely integrated with a broad range of other diagnostic genetic testing now being offered by pathology services at the adult and children's hospitals.

"Stanford has a special wealth of information and analysts," said Jason Merker, MD, PhD, assistant professor of pathology, the service's other co-director. "We involved physicians, other health-care providers, bioethicists, bioinformaticians and other researchers, inviting everyone to voice their thoughts for the broadest, deepest discussions possible on how to apply these new methods and knowledge to clinical care."

Michael Snyder, PhD, director of the Stanford Center for Genomics and Personalized Medicine and chair of genetics, as well as other members of the center, have played a pivotal role in the design and implementation of the service. Also, included in those discussions were Carlos Bustamante, PhD, a professor of genetics who was named a 2010 MacArthur Fellow for his work in genetic sequencing, and Michael Cherry, PhD, associate professor of genetics and principal investigator in several genome database projects.

"This new service can represent the best definition of the term personalized medicine," said Amir Dan Rubin, president and CEO of Stanford Hospital & Clinics. "The collaboration of our world-class experts in patient care and scientific research will advance the leading edge of knowledge in genome sequencing, bringing greater value, in the most responsible way, to what we offer our patients. Our goal is to use this new technology for early and accurate diagnosis and treatment for patients now and to learn and share that knowledge with medicine's new future."

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Pilot program offers genomic testing to certain patients ...

PUBLIC RELEASE DATE:

6-Feb-2014

Contact: Michael C. Purdy 314-286-0122 Washington University School of Medicine

A genetic disorder that affects about 1 in every 2,500 births can cause a bewildering array of clinical problems, including brain tumors, impaired vision, learning disabilities, behavioral problems, heart defects and bone deformities. The symptoms and their severity vary among patients affected by this condition, known as neurofibromatosis type 1 (NF1).

Now, researchers at Washington University School of Medicine in St. Louis have identified a patient's gender as a clear and simple guidepost to help health-care providers anticipate some of the effects of NF1. The scientists report that girls with NF1 are at greater risk of vision loss from brain tumors. They also identified gender-linked differences in male mice that may help explain why boys with NF1 are more vulnerable to learning disabilities.

"This information will help us adjust our strategies for predicting the potential outcomes in patients with NF1 and recommending appropriate treatments," said David H. Gutmann, MD, PhD, the Donald O. Schnuck Family Professor of Neurology, who treats NF1 patients at St. Louis Children's Hospital.

The findings appear online in the Annals of Neurology.

Kelly Diggs-Andrews, PhD, a postdoctoral research associate in Gutmann's laboratory, reviewed NF1 patient data collected at the Washington University Neurofibromatosis (NF) Center. In her initial assessment, Diggs-Andrews found that the number of boys and girls was almost equal in a group of nearly 100 NF1 patients who had developed brain tumors known as optic gliomas. But vision loss occurred three times more often in girls with these tumors.

With help from David Wozniak, PhD, research professor of psychiatry, the scientists looked for an explanation in Nf1 mice (which, like NF1 patients, have a mutation in their Nf1 gene). They found that more nerve cells died in the eyes of female mice, and they linked the increased cell death to low levels of cyclic AMP, a chemical messenger that plays important roles in nerve function and health in the brain. In addition, Wozniak discovered that only female Nf1 mice had reduced vision, paralleling what was observed in children with NF1.

Two previous studies have shown that boys with NF1 are at higher risk of learning disorders than girls, including spatial learning and memory problems. To look for the causes of this gender-related difference, the scientists first confirmed that Nf1 mice had learning problems by testing the ability of the mice to find a hidden platform after training. After multiple trials, female Nf1 mice quickly found the hidden platform. In striking contrast, the male Nf1 mice did not, revealing that they had deficits in spatial learning and memory.

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Gender influences symptoms of genetic disorder

PUBLIC RELEASE DATE:

7-Feb-2014

Contact: John Ascenzi Ascenzi@email.chop.edu 267-426-6055 Children's Hospital of Philadelphia

New genetic evidence strengthens the case that one well-known type of cholesterol is a likely suspect in causing heart disease, but also casts further doubt on the causal role played by another type. The findings may guide the search for improved treatments for heart disease.

Most of us have heard of "good cholesterol" and "bad cholesterol" coursing through our bloodstream. In the conventional health wisdom of the past 30 years, having more of the "good" variety (high-density lipoprotein, or HDL) lowers your risk of heart disease, while more of the bad one (low-density lipoprotein, LDL) increases your risk. Indeed, over the years, clinical trials and other studies have found that drugs that lower LDL also lower your probability of heart disease.

On the other hand, drug trials have not shown heart-health benefits to increasing HDL or to lowering triglycerides, a third type of blood lipid. Now a new study co-led by scientists at The Children's Hospital of Philadelphia and Penn Medicine sheds light on the role of genes and blood lipid levels in cardiovascular health. Newer tools for gene analysis show how variations in DNA are underlying actors affecting heart diseasea major worldwide cause of death and disability.

"Now we are able to pinpoint gene signals that actually cause some of these conditions," says geneticist Brendan J. Keating, D. Phil., of The Center for Applied Genomics at The Children's Hospital of Philadelphia. "Unraveling how genetic variants that influence lipid traits are related to heart disease risk is a step toward designing treatments." Keating and his colleagues, working in large international collaborative groups, are wielding advanced gene-analysis tools to uncover important clues to heart disease.

Keating collaborated with clinical epidemiologist Michael V. Holmes, M.D., Ph.D., of the Perelman School of Medicine at the University of Pennsylvania, in a blood lipid study published online Jan. 27 in the European Heart Journal. Research co-authors were from six countries and various centers, including the University College London in the U.K.

The study team used a recently developed epidemiology tool called Mendelian randomization (MR). MR analyzes genetic variations using a method that identifies genes responsible for particular diseases, independent of confounding factors such as differences in behavior or environmental influences that often limit the conclusions of epidemiology research. This was one of the largest studies to date using MR, as well as the largest to use an allele-score method, described below.

The researchers analyzed DNA data from 17 studies including over 60,000 individuals, of whom more than 12,000 had experienced coronary heart disease, including heart attacks. Because previous studies had found signals from nearly 200 genes to be associated with blood lipid levels, the study team aggregated data into composite groups, called allele scores, for each of three blood lipids: LDL, HDL and triglycerides, then calculated their relationship to coronary heart disease.

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Researchers use genetic signals affecting lipid levels to probe heart disease risk

Bookshelf

A collection of biomedical books that can be searched directly or from linked data in other NCBI databases. The collection includes biomedical textbooks, other scientific titles, genetic resources such as GeneReviews, and NCBI help manuals.

A resource to provide a public, tracked record of reported relationships between human variation and observed health status with supporting evidence. Related information intheNIH Genetic Testing Registry (GTR),MedGen,Gene,OMIM,PubMedand other sources is accessible through hyperlinks on the records.

An archive and distribution center for the description and results of studies which investigate the interaction of genotype and phenotype. These studies include genome-wide association (GWAS), medical resequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits.

An open, publicly accessible platform where the HLA community can submit, edit, view, and exchange data related to the human major histocompatibility complex. It consists of an interactive Alignment Viewer for HLA and related genes, an MHC microsatellite database, a sequence interpretation site for Sequencing Based Typing (SBT), and a Primer/Probe database.

A searchable database of genes, focusing on genomes that have been completely sequenced and that have an active research community to contribute gene-specific data. Information includes nomenclature, chromosomal localization, gene products and their attributes (e.g., protein interactions), associated markers, phenotypes, interactions, and links to citations, sequences, variation details, maps, expression reports, homologs, protein domain content, and external databases.

A collection of expert-authored, peer-reviewed disease descriptions on the NCBI Bookshelf that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

Summaries of information for selected genetic disorders with discussions of the underlying mutation(s) and clinical features, as well as links to related databases and organizations.

A voluntary registry of genetic tests and laboratories, with detailed information about the tests such as what is measured and analytic and clinical validity. GTR also is a nexus for information about genetic conditions and provides context-specific links to a variety of resources, including practice guidelines, published literature, and genetic data/information. The initial scope of GTR includes single gene tests for Mendelian disorders, as well as arrays, panels and pharmacogenetic tests.

A database of known interactions of HIV-1 proteins with proteins from human hosts. It provides annotated bibliographies of published reports of protein interactions, with links to the corresponding PubMed records and sequence data.

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Regents push for change in genetic medicine

BY KEVIN SVEC | FEBRUARY 06, 2014 5:00 AM

What was once confined only to science-fiction movies is now the subject of boardroom meetings. The University of Iowa Carver College of Medicine, the home to the Iowa Institute of Human Genetics, plans to start a revolution in modern medicine. Today, most of the medication prescribed is based on the weight and body surface area of the patient. The institutes goal is to promote an alternative, which will be known as personal genomic medicine.

Such medicine would cater to each patients specific needs. The medication prescribed would be based on the genetic makeup of a patient rather than her or his body index.

Using a genetic test, scientists would be able to evaluate each patients needs, allowing health-care providers to personalize each drug treatment.

The medicine will work with each individual patient based on her or his personal health risks. By personalizing the medicine, the doctors could increase the likelihood that the drug would have the best possible effect on each patient.

Richard Smith, the director of the Institute of Human Genetics, noted several advantages of genomic medicine.

Newborns would be able to have screenings done to determine what medication would work best from the beginning, said Smith.

According to the Jackson Laboratory website, any prescription drug now on the market only works for half of the people who take it. Antidepressants are effective for only 63 percent of those who take it. The percentage rate of effectiveness jumps to 75 percent among cancer patients. Genetic testing can change that.

Part of the process has started already. For those willing to pay, they can have their genes tested. The cost for the test is $296 through the UI Hospitals and Clinics, $256 through the institute. However, Medicare is willing to pay for $295 of the costs.

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Regents push for change in genetic medicine

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Newswise Salt Lake City, UT A national poll from the University of Utahs Huntsman Cancer Institute shows 34 percent of respondents would not seek genetic testing to predict their likelihood of developing a hereditary cancer even if the cost of the testing was not an issue. Concerns about employment and insurability were cited as the primary reason, even though current laws prohibit such discrimination.

The poll also shows only 35 percent of respondents would be extremely or very likely to seek aggressive prophylactic or preventive treatment, such as a mastectomy, if they had a family history of cancer and genetic testing indicated a genetic pre-disposition to cancer.

I see patients every week who could have taken steps to reduce their risk if theyd known theyd had a predisposition for a certain type of cancer. The best treatment for cancer is prevention, of which genetic testing plays an integral role, said Saundra Buys, M.D., co-director of the Family Cancer Assessment Clinic and medical director of the High Risk Cancer Research at Huntsman Cancer Institute (HCI), and professor of medicine at the University of Utah. In addition to educating the public about the important role genetic testing plays in both prevention and treatment of cancer, we must also work to eliminate perceived false barriers to testing, such as concerns about insurability and employment.

Nearly 40 percent of those who said they wouldnt seek testing reported being somewhat or extremely concerned that the results would impact opportunities for employment, while 69 percent of that same group reported being somewhat or extremely concerned that the results would have an adverse impact on their ability to get insurance.

Inherited mutations play a major role in the development of approximately 5 percent of all cancers. Genetic mutations associated with more than 50 hereditary cancer syndromes including those discovered at the University of Utah for melanoma, colon and breast cancer have been identified.

Buys says the survey demonstrates that even with increased media attention to genetic testing in recent months more work is needed to educate the public about the type of information genetic testing provides and who should seek it. She says family and personal health history are the most important factors in determining whether a person should consider genetic testing.

She warns, however, that genetic testing is only as good as the genetic counseling that accompanies it. There are many genetic tests being ordered in physician offices around the country without the benefit of genetic counseling. The results of these tests are complex, and without appropriate counseling, can cause confusion and unneeded anxiety for patients, said Buys.

Other findings from the poll:

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National Poll Shows Public Divided on Genetic Testing to Predict Cancer Risk

PUBLIC RELEASE DATE:

5-Feb-2014

Contact: Katie Delach katie.delach@uphs.upenn.edu 215-349-5964 University of Pennsylvania School of Medicine

PHILADELPHA - New research is lighting up yet another reason for women to quit smoking. In a study published online in the journal Menopause, researchers from the Perelman School of Medicine at the University of Pennsylvania report the first evidence showing that smoking causes earlier signs of menopause in the case of heavy smokers, up to nine years earlier than average in white women with certain genetic variations.

Though previous studies have shown that smoking hastens menopause by approximately one to two years regardless of race or genetic background, this study is the first of its kind to demonstrate that genetic background is significantly associated with a further increased risk of menopause in some white women who smoke. No statistically significant relationships between smoking, the gene variants under investigation and earlier menopause were observed in African American women.

While symptoms of menopause such as hot flashes, anxiety and insomnia can result in discomfort, embarrassment, and irritability, the onset of menopause is also associated with risks of coronary artery disease, osteoporosis, and death from all causes. On average, women enter menopause at around 50 years of age. However, the research team now reports that menopause may begin at an earlier age in white female smokers who are carriers of two different gene variants. While the genes themselves do not result in early onset menopause, variations of the genes CYP3A4*1B and CYP1B1*3 were found to increase the risk of entering menopause at an earlier age in white smokers. The genetic variants were present in seven and 62 percent of white women in the study population, respectively.

"This study could shed new light on how we think about the reproductive risks of smoking in women. We already know that smoking causes early menopause in women of all races, but these new results show that if you are a white smoker with these specific genetic variants, your risk of entering menopause at any given time increases dramatically," said the study's lead author Samantha F. Butts, MD, MSCE, assistant professor of Obstetrics and Gynecology at Penn Medicine.

Results of the study, which enrolled over 400 women aged 35 to 47 from the Penn Ovarian Aging Study, found that in carriers of the CYP3A4*1B variation, the average time-to-menopause after entering the study in heavy smokers, light smokers, and nonsmokers was 5.09 years, 11.36 years, and 13.91 years, respectively. This means that for heavily smoking white females with this genetic background, the average time-to-menopause was approximately nine years earlier than in nonsmoking carriers.

In white carriers of the CYP1B1*3 variation, the average time-to-menopause in heavy smokers, light smokers, and nonsmokers was 10.41 years, 10.42 years, and 11.08 years, respectively -- a statistically significant difference although not as stark as the findings for the CYP3A4*1B variant.

The Penn study did not examine why no statistically significant relationships between smoking, the gene variants under investigation, and earlier menopause were observed in African Americans.

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Penn study reveals genetics impact risk of early menopause among some female smokers

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Newswise PHILADELPHA - New research is lighting up yet another reason for women to quit smoking. In a study published online in the journal Menopause, researchers from the Perelman School of Medicine at the University of Pennsylvania report the first evidence showing that smoking causes earlier signs of menopause in the case of heavy smokers, up to nine years earlier than average in white women with certain genetic variations.

Though previous studies have shown that smoking hastens menopause by approximately one to two years regardless of race or genetic background, this study is the first of its kind to demonstrate that genetic background is significantly associated with a further increased risk of menopause in some white women who smoke. No statistically significant relationships between smoking, the gene variants under investigation and earlier menopause were observed in African American women.

While symptoms of menopause such as hot flashes, anxiety and insomnia can result in discomfort, embarrassment, and irritability, the onset of menopause is also associated with risks of coronary artery disease, osteoporosis, and death from all causes. On average, women enter menopause at around 50 years of age. However, the research team now reports that menopause may begin at an earlier age in white female smokers who are carriers of two different gene variants. While the genes themselves do not result in early onset menopause, variations of the genes CYP3A4*1B and CYP1B1*3 were found to increase the risk of entering menopause at an earlier age in white smokers. The genetic variants were present in seven and 62 percent of white women in the study population, respectively.

This study could shed new light on how we think about the reproductive risks of smoking in women. We already know that smoking causes early menopause in women of all races, but these new results show that if you are a white smoker with these specific genetic variants, your risk of entering menopause at any given time increases dramatically, said the studys lead author Samantha F. Butts, MD, MSCE, assistant professor of Obstetrics and Gynecology at Penn Medicine.

Results of the study, which enrolled over 400 women aged 35 to 47 from the Penn Ovarian Aging Study, found that in carriers of the CYP3A4*1B variation, the average time-to-menopause after entering the study in heavy smokers, light smokers, and nonsmokers was 5.09 years, 11.36 years, and 13.91 years, respectively. This means that for heavily smoking white females with this genetic background, the average time-to-menopause was approximately nine years earlier than in nonsmoking carriers.

In white carriers of the CYP1B1*3 variation, the average time-to-menopause in heavy smokers, light smokers, and nonsmokers was 10.41 years, 10.42 years, and 11.08 years, respectively -- a statistically significant difference although not as stark as the findings for the CYP3A4*1B variant.

The Penn study did not examine why no statistically significant relationships between smoking, the gene variants under investigation, and earlier menopause were observed in African Americans.

It is possible that uniform relationships among white and African American women were not found due to other factors associated with race that modify the interaction between smoking and genes, said Butts. It is well known that race affects multiple features of menopause, and this could be another. Further investigation is needed to clarify this question.

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Study Reveals Genetics Impact Risk of Early Menopause Among Some Female Smokers

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Newswise SALT LAKE CITY A team of researchers, led by physicians and scientists at Intermountain Medical Center and ARUP Laboratories in Salt Lake City, has made a medical breakthrough by discovering genetic mutations that cause a rare and deadly lung disease.

The disease, pulmonary capillary hemangiomatosis or PCH, is a rare cause of pulmonary hypertension, which occurs predominantly in young adults. PCH affects less than one in a million people, and has been extremely difficult and expensive to diagnose, as well as challenging to treat.

This genetic discovery offers new hope.

This is a significant finding. This discovery should advance our understanding of this rare pulmonary vascular disorder and other related disorders, said Greg Elliott, MD, MACP, senior investigator of the study and medical director of the Pulmonary Hypertension Center at Intermountain Medical Center in Murray, Utah, and professor of medicine at the University of Utah School of Medicine.

Results of the study will be published in the February issue of the journal CHEST, the official publication of the American College of Chest Physicians. The study is embargoed by CHEST until Feb 4 at 6am, EST.

Dr. Elliott and his team at Intermountain Medical Center and the University of Utah School of Medicine collaborated with researchers from Columbia University, Vanderbilt University and Mayo Clinic-Scottsdale.

To find the genetic mutation, the research team used a relatively new technology whole exome sequencing performed at ARUP Laboratories in Salt Lake City to test DNA samples. They discovered the genetic mutations in Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4. EIF2AK4 is a protein responsible for down-regulating protein synthesis when cells are exposed to stress.

Researchers found that in patients with the genetic mutations, their bodies don't properly regulate blood vessels in the lung. As a result, the capillaries in the lungs proliferate and the patient develops pulmonary hypertension.

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New Hope As Researchers Discover Genetic Mutations That Cause Rare and Deadly Lung Disease

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4-Feb-2014

Contact: Jess C. Gomez jess.gomez@imail.org 801-718-8495 Intermountain Medical Center

SALT LAKE CITY A team of researchers, led by physicians and scientists at Intermountain Healthcare's Intermountain Medical Center and ARUP Laboratories, has made a medical breakthrough by discovering genetic mutations that cause a rare and deadly lung disease.

The disease, pulmonary capillary hemangiomatosis or PCH, is a rare cause of pulmonary hypertension, which occurs predominantly in young adults. PCH affects less than one in a million people, and has been extremely difficult and expensive to diagnose, as well as challenging to treat.

This genetic discovery offers new hope.

"This is a significant finding. This discovery should advance our understanding of this rare pulmonary vascular disorder and other related disorders," said Greg Elliott, MD, MACP, senior investigator of the study and medical director of the Pulmonary Hypertension Center at Intermountain Medical Center in Murray, Utah, and professor of medicine at the University of Utah School of Medicine.

Results of the study will be published in the February issue of the journal CHEST, the official publication of the American College of Chest Physicians. The study is embargoed by CHEST until Feb 4 at 6am, EST.

Dr. Elliott and his team at Intermountain Medical Center and the University of Utah School of Medicine collaborated with researchers from Columbia University, Vanderbilt University and Mayo Clinic-Scottsdale.

To find the genetic mutation, the research team used a relatively new technology whole exome sequencing performed at ARUP Laboratories in Salt Lake City to test DNA samples. They discovered the genetic mutations in Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4. EIF2AK4 is a protein responsible for down-regulating protein synthesis when cells are exposed to stress.

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New hope: Researchers discover genetic mutations that cause rare and deadly lung disease