Navigation Links
ACMG releases report on incidental findings in clinical exome and genome sequencing
Date:3/21/2013

FACMG, co-chair of the Working Group, chief of the Genetic Disease Research Branch at the National Human Genome Research Institute said, "The implications of the ACMG recommendations are that as clinical sequencing becomes more widespread, a small percentage of families that are sequenced, perhaps not more than 1-2%, will learn unexpected but potentially life-saving information about an illness they may have never suspected they were at risk for. Thus, these recommendations are an innovative approach to addressing one of the most difficult problems in genomic medicine and to help transition us toward new models of delivering genomic information."

The report concludes: "In summary, the Working Group has recommended that when a report is issued for clinically indicated exome and genome sequencing, a minimum list of conditions, genes and variants should be routinely evaluated and reported to the ordering clinician who can place them into the context of that patient's medical and family history, physical examination and other laboratory testing." It further stated, "The Working Group recognizes that this list should, and will, evolve as further empirical data are collected on the actual penetrance of these variants, and on the health benefits and costs that might follow from their disclosure as incidental findings."


'/>"/>

Contact: Kathy Ridgely Beal
kbeal@acmg.net
301-238-4582
American College of Medical Genetics
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. American Academy of Microbiology releases resistance report
2. Mercury releases contaminate ocean fish: Dartmouth-led effort publishes major findings
3. Medbox, Inc. Releases Demo Video and Collateral Media Concerning How Their Systems Will Be Used in Massachusetts Medical Marijuana Dispensaries
4. Wildlife Conservation Society releases list of Asian species at the conservation crossroads
5. American Meteorological Society releases revised climate change statement
6. Medbox, Inc. Releases 2nd Quarter Financials
7. University of Tennessee professor releases weight management product
8. NSF releases report detailing nationwide and state-by-state R&D activities
9. SF State researcher releases first results from nationwide bee count
10. AAO-HNS releases updated Clinical Indicators
11. Spanish researcher releases a video showing a beetle from the inside
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/19/2014)... access in India over the last 30 years ... emissions growth during that time, according to a ... Climate Change ., "Energy access is fundamental to ... life, including education, communication, and health," says IIASA ... While increased energy access is widely agreed to ...
(Date:10/17/2014)... critical and pertinent for practicing physicians and clinicians given ... The Journal, Disaster Medicine and Public Health Preparedness ... Public Health, to surround the public, medical professionals and ... , On October 17, the journal published ... was prepared by Dr. Eric Toner, internist and emergency ...
(Date:10/16/2014)... the human body. Battles are won, lost or ... this stalemate—known as tumor dormancy—can last up to ... that is poorly understood. , A new ... Torquato, a Professor of Chemistry at Princeton University, ... and the switch to a malignant state. Published ...
Breaking Biology News(10 mins):Improved electricity access has little impact on climate change 2Modeling tumor dormancy 2
... few things as important on, and especially off, Earth as ... don,t have seconds to spare, which is why development of ... monitor can measure the concentrations of multiple gases within the ... designed the Multi-Gas Monitor to be resistant to shock and ...
... the right shape might be just as important in a ... an important role in the effectiveness of cells grown to ... design new structures that enable cells to "shape up," researchers ... come up with a way to measure, and more importantly, ...
... sound very durable. But the new type of micro-factories invented ... They will actually be placed inside a patient,s body ... will gradually dissolve and disappear in the patient,s urine once ... that Associate Professor of Chemistry Alexander Zelikin, Aarhus University, has ...
Cached Biology News:Rugged, rapid monitor safeguards space crews 2Rugged, rapid monitor safeguards space crews 3Shape-sifting: NIST categorizes bio scaffolds by characteristic cell shapes 2Tiny soft medicine factories 2
(Date:10/22/2014)... Physicians Choice Laboratory Services (PCLS) ... which enables healthcare providers to individualize therapeutic treatments ... results, healthcare providers are better able to assess ... minimizing risks for adverse drug reactions and interactions. ... FDA [1] more than 2.2 million adverse drug ...
(Date:10/22/2014)... --  Synthetic Biologics, Inc. (NYSE MKT: SYN), a ... and diseases, announced today that the U.S. Patent and ... a composition of matter patent application that covers the ... This is Synthetic Biologics, first allowed patent application directly ... the Company,s extensive C. difficile patent estate. ...
(Date:10/22/2014)... , Oct. 22, 2014 Nuvilex, Inc. ... approximately 400 million people worldwide are living with diabetes, ... people by 2030.  The global market for diabetes treatments ... approximately 330,000 people worldwide died from pancreatic cancer.  Pancreatic ... due to cancer in the United States ...
(Date:10/22/2014)... HONG KONG , Oct. 22, 2014 /PRNewswire/ ... announced today that rare disease expert John C. ... research. Dr. McKew brings more than two decades of ... the National Institutes of Health, Wyeth Research and Genetics ... will lead aTyr,s efforts to expand and translate its ...
Breaking Biology Technology:PCLS Announces Expansion of Cardiovascular Pharmacogenetic Testing Menu 2PCLS Announces Expansion of Cardiovascular Pharmacogenetic Testing Menu 3Synthetic Biologics Announces Allowance of Key U.S. Composition of Matter Patent for C. difficile Program 2Synthetic Biologics Announces Allowance of Key U.S. Composition of Matter Patent for C. difficile Program 3Synthetic Biologics Announces Allowance of Key U.S. Composition of Matter Patent for C. difficile Program 4Nuvilex Brief Analyst Report: Thinking Outside the Box by BrokerBank Securities, Inc. 2aTyr Pharma Appoints John C. McKew, Ph.D., as Vice President, Research 2aTyr Pharma Appoints John C. McKew, Ph.D., as Vice President, Research 3
... 16 Medical and technical experts at Wyle are ... Station. Their efforts will help astronauts cope with effects ... in a future mission to Mars. , "If successful, ... exploration missions and provide us with better insight into ...
... , , SEATTLE, Nov. 16 ... "Company") today announced that the Company,s product candidate PX-866, ... Information, Inc., as one of the Top 10 most ... partnering. , The selection was made by an independent ...
... , LONDON, Nov. 16 The ... field of biomarker research will test the frontiers of biomedical ... day and this rapid development promises excellent growth potential for ... in biomarker validation and assay development, there is a huge ...
Cached Biology Technology:Wyle Personnel Take Part in Important Studies Aboard the International Space Station 2Wyle Personnel Take Part in Important Studies Aboard the International Space Station 3Oncothyreon's PX-866 PI-3 kinase inhibitor named among Top 10 most promising oncology products for partnering by Windhover 2Oncothyreon's PX-866 PI-3 kinase inhibitor named among Top 10 most promising oncology products for partnering by Windhover 3Frost & Sullivan Reveals Strategies on Turning Challenges into Opportunities in the European Biomarkers Market 2
Rabbit polyclonal to ErbB 2 (phospho Y1248) ( Abpromise for all tested applications). entrezGeneID: 2064 SwissProtID: P04626...
The Microseal 384 plate positioner ensures precise positioning of Microseal 384-well plates in the x-, y-, and z-dimensions, for accurate automated liquid handling....
... sealing material is suitable for PCR ... down heated lid), especially 384-well formats ... for sample retrieval. Multiple seals can ... Ideal for compound management and high ...
... Nikon's Digital Sight DS-U2 camera controller is ... is specifically designed to interface any of the ... a PC computer through a USB2.0 interface. The ... complicated and cumbersome installation by equipping both hub ...
Biology Products: