Navigation Links
Genetic testing for breast or ovarian cancer risk may be greatly underutilized

Although a test for gene mutations known to significantly increase the risk of hereditary breast or ovarian cancer has been available for more than a decade, a new study finds that few women with family histories of these cancers are even discussing genetic testing with their physicians or other health care providers. In a report in the Journal of General Internal Medicine, which has been released online, investigators from the Massachusetts General Hospital (MGH) Institute of Health Policy and Dana-Farber Cancer Institute note that their findings illustrate the challenges of bringing genetic information into real-world clinical practice.

"Testing for BRCA1 and 2 mutations has been around a long time and should be a good indicator of whether genetic testing is making its way into regular medical practice," says Douglas Levy, PhD, of the MGH Institute for Health Policy, the study's lead author. "When a well-established genetic test is not being incorporated into clinical practice when appropriate, we are a long way from meeting the promise of personalized, genetically-tailored medical care."

Most women's lifetime risk of breast cancer is about 13 percent, and the risk for ovarian cancer is less than 2 percent. But women with mutations in the BRCA1 or BRCA2 genes may be 3 to 7 times more likely to develop breast cancer and 9 to 30 times more likely to develop ovarian cancer than women with unaltered forms of the genes. Several organizations have issued clinical guidelines designating who should be screened for BRCA1/2 mutations, and while there have been discrepancies among the guidelines, all of them include a history of breast or ovarian cancer in close relatives among the criteria indicating elevated risk. The authors note that most U.S. health insurers cover at least part of the cost of BRCA1/2 testing for at-risk women.

The current study analyzed data from the 2000 and 2005 National Health Interview Surveys, both of which included supplementary questions assessing cancer control. More than 35,000 women participating in those surveys did not have a personal history of breast or ovarian cancer, and around 1 percent of them were determined to be at high risk because a mother, sister or daughter had such a tumor. Among these high-risk women, about half were aware that genetic testing was available, but only 10 percent had discussed it with a physician, less than 5 percent had been advised to have the test, and only 2 percent had done so.

"A patient's personal preferences are paramount in her decision to undergo genetic testing, but at the very minimum high-risk patients should have a discussion with their clinician." Levy explains. "Although we didn't examine factors that may impede these discussions, I believe that improvements won't come until it becomes easier and more routine to collect, update and interpret family history information, which could come through the availability of decision support tools based on electronic medical records.

"Right now we can stress that women should be aware of their family history of breast and ovarian cancer on both sides of the family communicate that information with their physicians and update it as necessary. Any woman concerned about her family history should not hesitate to raise the topic of testing with her physician," adds Levy, who is an assistant professor of Medicine at Harvard Medical School. "In addition, organizations dedicated to cancer prevention and treatment should help disseminate the guidelines which have been updated in recent years particularly to primary care physicians."


Contact: Sue McGreevey
Massachusetts General Hospital

Related biology news :

1. DNA-Prokids: Genetic identification against traffic in human beings
2. ISU researcher identifies genetic pathway responsible for much of plant growth
3. Genetic factors may predict depression in heart disease patients
4. 100 reasons to change the way we think about genetics
5. Study finds genetic links to age of first menstrual period and menopause
6. ACLU -- Myriad Genetics lawsuit will become landmark case
7. UC Riverside geneticist receives highest honor from Botanical Society of America
8. Most extensive genetic resource for reef-building coral created
9. UNC study identifies genetic cause of most common form of breast cancer
10. American College of Medical Genetics affirms importance of newborn screening dried blood spots
11. Comprehensive genetic study paves way for new blood-pressure medicines
Post Your Comments:
(Date:10/29/2015)... 2015  Rubicon Genomics, Inc., today announced an ... its DNA library preparation products, including the ThruPLEX ... Plasma-seq kit. ThruPLEX Plasma-seq has been optimized for ... libraries for liquid biopsies--the analysis of cell-free circulating ... in cancer and other conditions. Eurofins Scientific is ...
(Date:10/27/2015)... Munich, Germany , ... (ASGM) automatically maps data from mobile eye tracking videos ... so that they can be quantitatively analyzed with SMI,s ... Germany , October 28-29, 2015. SMI,s Automated Semantic ... eye tracking videos created with SMI,s Eye Tracking ...
(Date:10/23/2015)... Research and Markets ( ) has announced the ... 2015-2019" report to their offering. ... recognition biometrics market to grow at a CAGR of ... --> The report, Global Voice Recognition Biometrics ... market analysis with inputs from industry experts. The report ...
Breaking Biology News(10 mins):
(Date:11/27/2015)... 2015 /PRNewswire/--  Mallinckrodt plc (NYSE: MNK ), ... has closed the sale of its global contrast media ... Euronext) in a transaction valued at approximately $270 million. ... a total of approximately 1,000 employees spread across the ... Louis area. This entire workforce and the ...
(Date:11/26/2015)... England , November 26, 2015 ... innovative medical device company specializing in imaging technologies, announced today ... European Commission as part of the Horizon 2020 European Union ... carry out a large-scale clinical trial in breast cancer. ... (Logo: , --> --> ...
(Date:11/25/2015)... 25, 2015 Studies reveal the ... plaque and pave the way for more effective treatment for ...     --> --> ... health problems in cats, yet relatively little was understood about ... studies have been conducted by researchers from the WALTHAM Centre ...
(Date:11/25/2015)... ... November 25, 2015 , ... ... of Black Aerospace Professionals (OPBAP) has been formalized with the signing of a ... leaders met with OPBAP leaders Capt. Karl Minter and Capt. Albert Glenn Tuesday, ...
Breaking Biology Technology: