FDA OKs BRCA1/BRCA2 direct-to-Consumer Test for BRCA mutations most often found N people of Ashkenaz

LorettaMarshall

Just for information purposes -

Among my many medical alerts comes this article that might be of interest to people of Ashkenazi Jewish descent. This seems extremely limited to a very few, but I know that we always wonder if we have a genetic disposition that caused us to have cancer.  So I thought I would pass it along just for information.  My mother was one of 12 siblings.  My sister had breast cancer so I was tested.  My genetic testing was negative, although there were 20 close relatives on my mother's side who were diagnosed with major cancers including Ovarian, Breast, Pancreatic, Stomach and Lung Cancer.  It just makes one wonder about the accuracy of the testing.  However, even though this medical alert will be of use to a limited group of people, it's still encouraging that progress is being made in some areas.

Loretta

Peritoneal Carcinomatosis/Ovarian Cancer Stage IV

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·         https://www.medpagetoday.com/genetics/genetictesting/71568?xid=nl_mpt_%20SRCardiology_2018-03-12&eun=g1026712d0r&pos=3311133

Genetics> Genetic Testing

"FDA OKs BRCA Consumer Test - Limited applicability to the general population 

by Charles Bankhead, Senior Associate Editor, MedPage Today March 06, 2018

WASHINGTON -- The FDA today granted authorization for a direct-to-consumer test for a highly selected group of cancer-associated BRCA mutations.

 Granted to 23andMe, the authorization covers the Personal Genome Service Genetic Health Risk Report for BRCA1/BRCA2 (selected variants). The test can identify three specific BRCA mutations that occur most often in people of Ashkenazi Jewish descent. The test does not identify any of the other more than 1,000 known BRCA mutations, including mutations found most commonly in the general population.

"This test provides information to certain individuals who may be at increased breast, ovarian, or prostate cancer risk and who might not otherwise get genetic screening and is a step forward in the ability of direct-to-consumer genetic tests. But it has a lot of caveats," Donald St. Pierre, of the FDA Center for Deices and Radiological Health, said in a statement.

 "While the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry one of these three mutations, and most BRCA mutations that increase an individual's risk are not detected by this test. The test should not be used as a substitute for seeing your doctor for cancer screening or counseling on genetic and lifestyle factors that can increase or decrease cancer risk."

Users of the test collect a small amount of saliva in a container that comes with the test. The user then mails the test kit to the manufacturer's laboratory for analysis. Test results come in the form of a report sent to the user.

The three hereditary mutations detected by the test occur in about 2% of Ashkenazi Jewish women but are far more rare in the general population (0-0.1%). Men may also use the test to determine whether they have an increased risk of developing breast or prostate cancer.

 The FDA statement emphasized that a negative test does not rule out the possibility that a person has an increased cancer risk associated with other types of genetic mutations, including BRCA and non-BRCA mutations. The agency also noted that most cancers do not arise from genetic mutations but more likely from a combination of factors, including lifestyle and environmental factors.

"For all these reasons, it is important for patients to consult their healthcare professional, who can help them understand how these factors impact their individual cancer risk and what they can do to modify that risk," the statement continued.

 Authorization for the BRCA test comes about a year after the FDA authorized the first-ever direct-to-consumer genetic test kits -- the 23andMe Personal Genome Service Genetic Health Risk tests for 10 different conditions.”

 

Tethys41

BRCA mutation

This test will be great, because it is much more affordable than the old one.  Although insurance did cover the old one if there was a family history of the disease.

Just a note, however, this mutation is not limited only to people of Ashkenazi Jewish descent.  I, myself, am BRCA 1 positive and have no Ashkenazi Jewish ancestors.  I have also met at least a dozen other women, who are BRCA positive, who also were not of Ashkenazi Jewish descent.  I think it is advisable to test, once you have been diangosed with breast or ovarian cancer because having the BRCA mutation offers other treatment options, especially for recurrances.