Navigation Links
The science of uncertainty in genomic medicine

BOSTON - The notion of "personalizing" health care through the use of an individual's genetic code has attracted considerable enthusiasm and investment. Impressive examples, confirmed through formal studies of clinical validity and utility, suggest that we have only scratched the surface of applications to treat disease more precisely, identify risk factors for complex disease, and guide preventative measures.

As the cost of sequencing entire genomes falls, the opportunities for people around the world to take possession of their entire genetic code will proliferate. However, one irony of the precise determination of all 3.2 billion nucleotide pairs is the lack of understanding of the meaning of many sequence variations.

More than 1500 single nucleotide variations are associated with risks for more than 200 complex diseases, but despite their commercialization, these account for a small proportion of heritability of these diseases.

In both translational science and clinical practice, the substantial uncertainty in interpreting genomic information serves as an important barrier to application. Coping with uncertainty can be addressed quantitatively, but how the information is so far understood, presented, and interpreted by physicians and patients has been best addressed qualitatively. Interdisciplinary teams of professionals may be best suited to study the many facets of uncertainty in genomic medicine.

Reed Pyertiz, MD, PhD, the director of Penn CIGHT, the Center for the Integration of Genetic Healthcare Technologies, is moderating a session called, "The Science of Uncertainty in Genomic Medicine," at the 2013 American Association for the Advancement of Science Annual Meeting in Boston, on Friday, February 15, 2013: 10:00 AM-11:30 AM, Room 313, Hynes Convention Center. Pyeritz is available for interviews on the topic of genomic medicine and its uses in clinical care. Penn CIGHT is at the Perelman School of Medicine, University of Pennsylvania.


Contact: Karen Kreeger
University of Pennsylvania School of Medicine

Related medicine news :

1. Washingtons Life Sciences Discovery Fund awards commercialization grants
2. Hutchinson Center president elected to American Academy of Art and Sciences
3. Association for Psychological Science, SAGE launch Clinical Psychological Science
4. Ivy Neurological Sciences Internship program funded at TGen
5. UT MD Anderson President Ronald DePinho elected to National Academy of Sciences
6. Understanding and promoting mental health - Insights from psychological science
7. The Science Media Centre, London, wins the 2012 ECNP Media Award
8. Ultra-short laser pulses for science and industry
9. Optogenetics project takes top NIDA Addiction Science Award
10. Psychological Science explains uproar over prostate-cancer screenings
11. The Science of Tasty Tomatoes Lies in the Chemicals
Post Your Comments:
(Date:10/13/2017)... , ... October 13, 2017 , ... Yisrayl Hawkins, Pastor ... that explains one of the most popular and least understood books in the Holy ... and puzzling descriptions that have baffled scholars for centuries. Many have tossed it off ...
(Date:10/13/2017)... , ... October 13, 2017 , ... “America On The ... identity. “America On The Brink” is the creation of published author, William Nowers. ... great-grandchildren. As a WWII veteran, he spent thirty years in the Navy. ...
(Date:10/12/2017)... ... 2017 , ... The company has developed a suite of ... authorities worldwide. From Children’s to Adults 50+, every formula has been developed by ... , These products are also: Gluten Free, Non-GMO, Vegan, Soy Free, Non-Dairy*, Preservative ...
(Date:10/12/2017)... ... October 12, 2017 , ... Information about the ... to develop to enable prevention of a major side effect of chemotherapy in ... in pediatric patients. For cisplatin, hearing loss is FDA listed on-label as a ...
(Date:10/12/2017)... Chapel, FL (PRWEB) , ... October 12, 2017 , ... ... is holding a treadmill relay – Miles by Moonlight to raise money for the ... donating $300 or more. , Teams will work together to keep their treadmills ...
Breaking Medicine News(10 mins):
(Date:9/27/2017)... , Sept. 27, 2017  Commended for their devotion ... notable awards. Ranked as number one in the South Florida ... time in Inc. 5000 yearly list, the national specialty pharmacy ... Armando Bardisa will soon be honored by SFBJ ... Set to receive his award in ...
(Date:9/22/2017)... 22, 2017  As the latest Obamacare repeal effort ... Cassidy (R-LA) and Lindsey Graham (R-SC) ... medical device industry is in an odd place.  The ... 2.3% excise tax on medical device sales passed along ... covered patients, increased visits and hospital customers with the ...
(Date:9/18/2017)... Sept. 18, 2017 EpiVax, Inc. ... bioinformatics and immune engineering, today announced a ... A (H7N9) vaccine. ... seasonal influenza and presents a challenge for ... exposure to be effective. Using state-of-the-art bioinformatics and ...
Breaking Medicine Technology: