Genomics|Update|Current - Recommendation on Genetic Testing for Risk of Cardiovascular Disease

Recommendation on Genetic Testing for Risk of Cardiovascular Disease
 
This month the independent Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group has released a new evidence-based recommendation on the use of “cardiogenomic profiles” (or “heart health”) genetic tests. These tests are being marketed to physicians and the general public as a way to find out a person’s risk for cardiovascular disease, and some can be ordered online without the involvement of a physician. The EGAPP Working Group did not find enough evidence to indicate whether these tests should or should not be used to determine future cardiovascular risk in the general population, and currently discourages the use of this testing except in research settings. Access the EGAPP recommendation. Read more about the EGAPP recommendation.

April 2010: Genomics|Genetic Testing|EGAPP Recommendations|Lynch Syndrome

EGAPP Working Group Recommendation

Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives
Approximately 3% of people who develop colorectal cancer have an autosomal dominant inherited condition known as Lynch syndrome, sometimes referred to as Hereditary Nonpolyposis Colorectal Cancer or HNPCC. Individuals with this condition have a greatly increased chance to develop colorectal and other cancers, especially under age 50. Screening for Lynch syndrome in all patients with newly diagnosed colorectal cancer has been proposed to improve outcomes for patients and/or family members.
EGAPP Recommendation Statement: The EGAPP™ Working Group found sufficient evidence to recommend offering genetic testing for Lynch syndrome to individuals with newly diagnosed colorectal cancer (CRC) to reduce morbidity and mortality in relatives. We found insufficient evidence to recommend a specific genetic testing strategy among the several examined.

Note:  See website for access to the pdf files below (full free access):

• EGAPP Recommendation  (PDF 220KB) (Jan 2009)

• Evidence Report (May 2007)

• Supplementary Evidence Report (PDF 664KB) (Jan 2009)

• CDC Summary of Lynch Syndrome EGAPP Recommendation (Apr 2010)

CDC Features - Genetic Testing for Hereditary Colorectal Cancer

Note: the EGAPP group published several papers in 2009
(EGAPP supplementary evidence review DNA testing strategies aimed at reducing morbidity and mortality in Lynch Syndrome; Methods of the EGAPP Working Group Lynch Syndrome;  Recommendations EGAPP Working Group testing strategies to reduce morbidity and mortality in Lynch Syndrome)

Also: search this blog for 'EGAPP'  for additional references such as:

Saturday, June 27, 2009

Center for Genomics and Public Health - EGAPP - What is EGAPP?

"The EGAPP Working Group concluded that all people with a new diagnosis of colorectal cancer should be offered counseling and educational materials about genetic testing for Lynch syndrome. 
The EGAPP™ Working Group is an independent, non-governmental panel of scientists and health care experts from universities, industry, clinical practice, insurance companies, and public health who review available research and evidence to make recommendations about the use of genetic tests."

repost: Genomics|Genetic Testing|EGAPP Recommendations|Lynch Syndrome

About Lynch Syndrome Lynch syndrome refers to individuals with hereditary predisposition to colorectal cancer (CRC) and other malignancies as a result of an inherited mutation in a specific type of gene known as a mismatch repair (MMR) gene. Lynch syndrome includes those with an existing cancer as well as those who have not developed cancer. * Also referred to as hereditary nonpolyposis colorectal cancer (HNPCC) * Autosomal dominant inheritance pattern (50% risk to offspring to inherit the gene mutation) * The lifetime risk for CRC in individuals with Lynch syndrome reported in the literature ranges from approximately 20-80%, dependent upon: o Gene involved o Sex of the individual o Population studied * Mean age of onset of CRC is approximately 45 years * Increased risk for other malignancies including: endometrial, ovarian, urinary tract, gastric, small bowel, pancreatic, and sebaceous skin tumors