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Genomic News Archive

2013

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. http://www.nejm.org/doi/full/10.1056/NEJMp1314561

2012

David Ledbetter, Ph D, Executive Vice President and Chief Scientific Officer, is one of the authors of paper in the New England Journal of Medicine that shows the efficacy of chromosomal microarray (CMA) testing in diagnosing and evaluating developmental delay and structural malformations in children. Uncertain findings are the major reason some clinicians are hesitant to move to the routine use of CMA for families undergoing invasive prenatal testing. Ron Wapner at Columbia and collaborators across the US have launched a long-term follow-up study to help determine the impact of prenatally diagnosed copy number variations. Geisinger Genomic Medicine Institute researcher Andy Faucett, MS is leading the development of an online resource center to provide women and clinicians with up-to-date information and to allow women to participate in the long-term follow-up study online. Geisinger is leading efforts by the International Collaboration for Clinical Genomics (ICCG) to encourage clinical laboratories to share their test results to improve our ability to provide information and move CMA results from uncertain to certain.

Marc S. Williams, MD, Director of the Genomic Medicine Institute, and Janet L. Williams, MS, CGC, genetic counselor, are featured in a video from a recent conference, "New Strategies in Public Health Genomics: Actions to Save Lives Now."
http://www.youtube.com/watch?v=lhcpTR7zlN0&feature=youtu.be

Geisinger researchers get top honors at scientific meeting
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PASG Newsletter (.pdf)

New test of infants' DNA speeds diagnosis
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Experimental Drug Gives Hope for Rare Disease, Autism
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Here. Us. Now.
A Family's Fight to Bring Medical Innovation Home
A new documentary looks at how Chris and Hugh Hempel are in the fight of their lives to help their twin daughters, Addison and Cassidy, who have been diagnosed with Niemann-Pick Type C, a rare and incurable genetic disease that causes progressive neurological deterioration. As the devastating effects of the disease begin to take hold, the Hempels enter a world of complex medical literature, complicated clinical trials, and cumbersome regulatory mazes where new drug discovery, invention, and approval are slow and ineffective. Click for video

A recent study finds that all that "junk" DNA isn't really junk after all
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One viewpoint on the record of physician liability related to genetic testing
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Genes now tell doctors secrets they can't reveal to patients
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Using genome sequencing to stop a bacterial outbreak at the NIH
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"Ome" has replaced "Om" as the new mantra
The Wall Street Journal has a new take on "ome" as the new buzzword.

Time Out for Genetics: Heard About Genetic Counseling? What Does it Mean for You, Patients, and Families?
Time Out for Genetics Webinar Series

Going for the Gold
Olympic medalist Ryan Lochte is supporting genetic research to treat Duchenne Muscular Dystrophy, which took the life of a family member. He recently sent a video message to Parent Project Muscular Dystrophy to help raise awareness and funds for research. Click for the story and video.

Time Out for Genetics
This educational webinar series is presented by the Genetics in Primary Care Institute (GPCI), a cooperative agreement between the American Academy of Pediatrics and the Maternal and Child Health Bureau. The objective of this 10-part webinar series is to increase awareness and education regarding the provision of genetic medicine in primary care practice. It is designed for primary care clinicians, pediatricians, pediatric sub-specialists, family physicians, nurse practitioners, genetic counselors, geneticists and other stakeholders. Click for more information on the webinar series.

A Conversation with Geisinger Health System's David Ledbetter
BioArray News editor Justin Petrone caught up with David Ledbetter, CSO of Geisinger Health System, at the recent Annual Clinical Genetics Meeting held in Charlotte, NC, to discuss the future of CMA as a first-tier test, classifying findings of uncertain significance, and more.
BioArray News, May 25, 2012

First Bedside Genetic Test Could Prevent Heart Complications
A genotyping test from a Canadian biotech company enables timely personalized drug treatment.
MIT Technology Review, April 4, 2012

Personal Gene Mapping Has Limits, Study Says
Commercial genome scans no substitute for healthy lifestyle, medical check-ups
US News, April 2, 2012

Genome shoots for Mainstream
Industry poised for changes to bring sequencing to more patients.
San Diego Untion Tribune, Feb. 8, 2012

Cracking your genetic code
With personalized, gene-based medicine on the horizon, what does that mean to each of us?
Nova, Jan. 24, 2012

2010

One In A Billion: A boy's life, a medical mystery
Nicholas Volker is a little boy with a rare, devastating disease. In a desperate bid to save his life, Wisconsin doctors must decide: Is it time to push medicine's frontier?
Milwaukee Journal Sentinel, Dec. 18, 2010