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Genomic News

ClinGen project
Geisinger Health System's work with the NIH-funded ClinGen project is noted in two articles in the June 2014 edition of Managed Care. The articles, on pages 43 and 45, detail the work GHS is doing with Boston's Partners Healthcare and others to design and implement a way to evaluate which genetic variants play roles in disease and their relevance to patient care. Also discussed is GHS's project with Regeneron to sequence 100,000 patients. Full story

DNA testing lab
Geisinger is building a new telegenomics facility at Forty Fort, scheduled to open in November. Full story

DNA sequencing
When doctors couldn't find the cause for a teen's illness, they tried something different. Full story

Geisinger geneticists present papers at prestigious international meeting
Geisinger researchers Bonnie Salbert, DO, and Marc Williams, MD, have had papers accepted to the 35th Annual David W. Smith Meeting on Malformations and Morphogenesis to be held in July in Madison, WI. Full story

Student essays highlight ASHG DNA Day observance
The American Society of Human Genetics observed DNA Day on April 25 with its ninth annual essay contest. More than 750 students from 39 states and 20 counties participated in the contest. Full story

International gathering highlights challenges, opportunities in genomic medicine
Marc Williams, MD, Director of Geisinger's Genomic Medicine Institute, joined other international leaders in genomic medicine at a two-day gathering earlier this year to recommend ways to improve the use of genomics in medicine. Full story

Faucett to present
W. Andrew Faucett, MS, LGC, will give a presentation as part of the Plenary at the 33rd annual education conference of the National Society of Genetic Counselors in New Orleans in September. His topic is "National efforts towards standardizing variant interpretation."

Geisinger, Regeneron to Sequence at Least 5,000 Exomes in '14
The Geisinger-Regeneron collaboration to sequence the exomes or genomes of at least 100,000 patients is getting positive coverage in the clinical sequencing press. Full story

Regeneron and Geisinger Health System announce major human genetics research collaboration
Full story

Putting genetic data in clinicians' hand remains a top trend in technology
Full story

GHS part of collaboration awarded $970K for new national clinical research network
DuchenneConnect, a program of Parent Project Muscular Dystrophy, has been awarded a $970,000 grant by the Patient-Centered Outcomes Research Institute (PCORI) to help develop a health data network as part of PCORINet: the National Patient-Centered Clinical Research Network. Collaborators on the project include two from Geisinger: F. Daniel David, PhD, Director of Bioethics, and W. Andrew Faucett, MS, CGC, Director of Policy and Education, Office of the Chief Scientific Officer.

DuchenneConnect is an established patient-report registry for Duchenne and Becker muscular dystrophies
PCORI envisions PCORnet to be a secure, national data network that improves the speed, efficiency, and use of patient-centered comparative effectiveness research (CER). By integrating data available in the 29 individual networks, PCORnet aims to provide access to a large amount of diverse, nationally representative health information that can support a range of study designs. It will reduce the time and effort needed to launch new studies and focus research on questions and outcomes especially useful to patients and those who care for them.

PCORnet will join together networks operated by both patient communities and health systems and will require patients' and other stakeholders' involvement in all aspects of the collection and use of the data. By enabling researchers and patients, clinicians, and other end-users of study results to interact directly and jointly determine research priorities, such as the selection specific studies to support, PCORnet aims to advance the shift in clinical research from investigator-driven to patient-centered studies.

DuchenneConnect was selected through a review process in which patients, caregivers, and other stakeholders joined scientists to evaluate the proposals. Applications were assessed for the capacity of their network to collect complete, comprehensive clinical data; how well they will engage patients and other stakeholders; and their ability to maintain data security and patient privacy among other criteria.

All awards are approved pending completion of a business and programmatic review by PCORI staff and issuance of a formal award contract. PCORI has awarded a total of $464.4 million since it began funding CER in 2012. Click for more information about PCORI funding.

GMI's Murray publishes editorial on direct-to-consumer genetic testing
Michael F. Murray, MD, Director of Clinical Genomics, Genomic Medicine Institute, has published an opinion piece in the Annals of Internal Medicine on genetic testing and personal genomic services such as 23andMe. The editorial draws a distinction between what medical genetic testing does and what private companies are trying to do.

Marc Williams named to international scientific group
Marc S. Williams, MD, director of Geisinger's Genomic Medicine Institute, has been named to the Genomic Medicine Allliance's Scientific Advisory Committee, one of only three Americans on the 14-member committee. Other nations represented include Greece, Kuwait and The Netherlands. Based in London, the Genomic Medicine Alliance aims to create collaboration ties between academics, researchers, regulators, and the general public interested in all aspects of genomics and personalized medicine. The Alliance provides the means to establish networks and to encourage collaborative work towards advancing the Genomic Medicine discipline, focusing in particular on translating results from academic research into clinical practice.

Aiming to Push Genomics Forward in New Study
Regeneron Pharmaceuticals will sequence DNA from about 100,000 patients of Geisinger Health System in Pennsylvania, seeking genetic variants linked to diseases that may provide clues to developing new drugs. Full story

Collins and Hamburg: First FDA Authorization for Next-Generation Sequencer
The FDA's recent marketing authorization for the first next-generation genomic sequencer will open the door for the transformation of research, clinical care and patient engagement. Full story

Family Health History Campaign on radio
Andrew Faucett, MS, CGC, director of policy and education, Geisinger Health System, was interviewed by WKOK news director Mark Lawrence about the Family Health History Campaign. Through a gift from Weis Markets in partnership with the Geisinger Genomic Institute a series of educational tools is now available that helps guide a family history discussion and make it into a group activity that can help identify risk factors for many common, chronic conditions. Listen

Top genetics story involves GHS researchers
The DNA Exchange has cited the report on incidental findings from the American College of Medicine Genetics and Genomics as the top genetics story of the year. Incidental findings are those found during genetic testing that are not related to the reason the test was done, but which have significant medical consequences. Among those working to develop the report were Marc Williams, MD, director of the Genomic Medicine Institute; Christa Lese Martin, PhD, director of the Autism and Developmental Medicine Institute; and Michael Murray, MD, director of Genomic Medicine Institute Northeast. Full story.

GHS researchers play key roles at ACMG conference
Two Geisinger Health System researchers participated in the 2014 American College of Medical Genetics and Genomics conference in Nashville, TN.

Monica Giovanni, a senior genetic counselor and clinical investigator with the Genomic Medicine Institute, will moderate a plenary session on Moving the Field Forward: Sharing Data to Better Interpret Genomic Variation and Obtain Comprehensive Phenotypes.

David H. Ledbetter, PhD, Executive Vice President and Chief Scientific Officer, spoke on Recording Genomic Variation and Defining Clinical Relevance.

Geisinger genomics researchers take leading role in Clinical Genome Project
Four Geisinger Health System researchers have taken center stage in the national arena of genomics thanks to new funding from the National Human Genome Research Institute, an arm of the U.S. National Institutes of Health. Full story

Special edition
Marc Williams, MD, director of Geisinger's Genomic Medicine Institute, is a co-editor of a special edition of Genetics in Medicine on Genomics in Electronic Medical Records. Williams and Joseph Kannery, MD, from Mt. Sinai Medical Center, brought together a series of articles looking at how to integrate genomics in clinical care.

Researchers collaborate in new study
Two Geisinger researchers, David Ledbetter, PhD, Executive Vice President and Chief Scientific Officer, and W. Andrew Faucett, MS, CGC, Director of Policy and Education, Office of the Chief Scientific Officer, are collaborators in a new clinical study looking at the prenatal diagnosis of genetic defects. Full story More:

Cigna to require genetic testing
Cigna Corporation will be the first US health insurer to require genetic counseling before it pays for hereditary breast and ovarian cancer testing. Full story

Williams joins HMORN Governing Board
Marc Williams, MD, has joined the HMORN Governing Board. Dr. Williams is a trained pediatrician, board certified clinical geneticist, and Director of Geisinger's Genomic Medicine Institute. His research has examined the impact of family history on provider experience; the role of informatics tools for clinicians on genetic topics; the impact of tumor-based screening for Lynch syndrome; the use of query tools to obtain information on genetic conditions from electronic data; and implementation of evidence-based best practices in genetics and genomics. Dr. Williams succeeds Dr. Steve Steinhubl who ably served in the role over the past year.

High court patent ruling see as win for patients
Geisinger Health System's chief scientific officer believes the June 13 unanimous Supreme Court ruling that human genes cannot be patented is a win for scientists and doctors, but most importantly a major victory for patients.

David H. Ledbetter, PhD, FACMG - a plaintiff in the case - said the decision struck down major barriers to patient care and medical innovation.

"This ruling is going to improve access, reduce costs, and allow for innovation that wouldn't have happened otherwise," Dr. Ledbetter said. "This will be one of those wonderful occurrences in medicine where we improve quality and reduce costs simultaneously and immediately." The high court's ruling specifically threw out patents previously held by Myriad Genetics Inc., a Salt Lake City-based company that had patented a genetic test for two BRCA genes associated with increased risks for breast and ovarian cancers.

AMA supports public access to genetic data
The American Medical Association has adopted a policy that encourages companies, laboratories, researchers and healthcare providers to publicly share data on genetic variants and the clinical significance of those variants through a system that provides patient and provider safety. The policy change was made on June 18, 2013, just days after the US Supreme Court unanimously decided that genes cannot be patented. "On the heels of the U.S. Supreme Court decision that genetic information is not patentable, this policy urges collaboration and data sharing with privacy protections to advance genomic medicine," said AMA Board Member William Kobler, MD. "Genetic analyses done collectively with the ability to compare genetic variants and analysis will allow researchers and health care professionals to more quickly identify and adopt advances in genomic medicine to benefit patients."

Genome: Unlocking Life's Code
The Smithsonian Institution has opened a state-of-the-art exhibition about genome science. "Genome: Unlocking Life's Code" is a partnership of the Smithsonian and the National Human Genome Research Institute, a part of the National Institutes of Health. Museum link Project link

Human Genome Project
Human Genome Project and related research generated $65 billion into the US economy, supported 152,000 jobs and was responside for $19 billion in personal income, according to the update to a report issued in 2011. The Battelle report was updated in 2013 to show the continuing impact of genomics on the US economy. Full story

A genetic revolution has started in the use of whole genome sequencing for precision medicine, but there's still a lot of work to be done
Marc Williams, MD, director of the Genomic Medicine Institute at Geisinger, spoke in November 2012 to the Lennox K. Black International Prize for Excellence in Biomedical Research - 7th Symposium, Individualized Medicine, at Thomas Jefferson University in Philadelphia. An article based on his talk can be found starting at page 42 at this link:

Genetic testing
While many people are undergoing genetic testing for breast cancer, they are not taking advantage of genetic tests that could indicate increased risk for other cancers. A recent study in France shows that testing for Lynch Syndrome, which increases the risk of colorectal cancer, is underused.

Angelina Jolie, actress and director, underwent a prophylactic mastectomy recently after finding she had a high risk for breast cancer
Her op-ed commentary in The New York Times discusses her decision and the high cost of BRCA testing in the United States.
The PBS NewsHour and NPR also took a look at the BRCA issue.

The U.S. Supreme Court is considering whether a private company can own a piece of your body
Myriad Genetics has a patent on 2 genes associated with breast and ovarian cancer. This means that they can (and have) placed restrictions on who conducts research on the genes, which limits scientific progress in understanding these diseases. This animated video illustrates the threats to health, patients' rights and scientific research that are at stake in the court case Association for Molecular Pathology v. Myriad Genetics. The video can be seen at or It's also on YouTube at

Electronic health records not up to task
Marc Williams, MD, co-author of an opinion piece in the Journal of the American Medical Association.

Major motion picture
The search for the breast cancer genes, BRCA 1 and 2. Full story

GMI recognition in Clarity Challenge
Full story

Why We Have a Right to Consumer Genetics
MIT Technology Review, Jan. 2, 2013 Full story


Click for genomics news archive (2010 - 2012)