FDA approves first home-based testing for three BRCA mutations

The US Food and Drug Administration (FDA) has approved the first direct-to-consumer tests for three BRCA1 and BRCA2 gene mutations that are most common in people of Ashkenazi (Eastern European) Jewish descent, but people of other racial and ethnic groups can also have them.

This gives the ability to consumers to order the test directly from home without a consultation or order of healthcare provider.

Women who test positive for any of the three mutations are at increased risk of breast and ovarian cancer and men who test positive are at increased risk of breast cancer. A negative test does not rule out the possibility of the presence of other BRCA mutation which can still put you at increased risk of cancer. There are about 1000 BRCA mutations and the test only detects 3 most common ones.

Absence of BRCA mutation does not also signify that the individual is not at risk of any other type of cancers.

Donald St. Pierre, acting director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health said, “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 availability of DTC genetic tests. But it has a lot of caveats.”  in the FDA’s press release.

He warned the consumers that this test should not be a substitute for your screening tests, annual physicals, and consultation with your physician about genetic tests and other lifestyle factors that may influence your risk of developing cancers.

The test results should also not be the sole basis to determine any treatments, including anti-hormone therapies and prophylactic removal of the breasts or ovaries.

After the test results are available, the individual should consult the physician who can request for additional tests and assess your individual risk of getting breast and ovarian cancer. Most cancers are not caused by the mere presence of these mutations, but they are the result of complex interplay between your genes, environment and lifestyle.

The physician will also advise you about ways of reducing the risk of developing cancer.

The FDA granted the marketing authorization to 23andMe, for this test. The company will report the results as a part of its $199 Health and Ancestry product. The consumers who wish to get tested request for a kit that is mailed to them. The saliva samples are collected at home and mailed back in the same kit. Results are ready in 6-8 weeks’ time and can be viewed online by logging into the account.

In April 2017, 23andMe has already received FDA clearance for at home testing of 10 genetic diseases.

Angelina Jolie famously documented her double mastectomy in The New York Times after testing positive for a BRCA mutation and is often held responsible for rising in inappropriate BRCA testing around the world.

In the wake of the announcement by FDA, we are sure to see a rise in the pool of women with BRCA testing.

FDA press release

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Here are the top 5 posts this week.

Sperms used as vehicle for targeted drug delivery in gynecological cancers.

Sperms are not just for baby-making anymore, but can be used as cargo agents for delivering drugs inside the body.

Researchers at Institute for Integrative Nanosciences in Germany and Chemnitz University of Technology are working on innovative way to use sperms as cargo delivery agents to carry drugs through female reproductive tract.

https://obgynupdated.blogspot.com/2017/04/sperms-used-as-vehicle-for-targeted.html

New class of drug effective in targeting menopausal symptoms: News from Endocrine Conference 2017

A new class of drug Neurokinin 3 (NK3) receptor antagonists is highly effective and low risk alternative to hormone replacement therapy(HRT) for treatment of menopausal hot flashes according to a study presented at the ENDO 2017, The endocrine society annual meeting from April 1–4, 2017, in Orlando, FL.

NK3 receptor blockers fezolinetant (Ogeda) and MLE4901 (Millendo Therapeutics) were found useful in reducing moderate to severe hot flashes in postmenopausal women. 

https://obgynupdated.blogspot.com/2017/04/new-class-of-drug-effective-in.html

New natural (bioidentical) 17ß-estradiol-progesterone combination available as single soft gel capsules effective in treating postmenopausal symptoms: News from ENDO17

An innovative, investigational combination of 17ß-estradiol and progesterone in a single, oral softgel, was found effective for the treatment of moderate to severe vasomotor symptoms (VMS) due to menopause. The results of the study were presented at the ENDO 2017, the annual meeting of the Endocrine Society in Orlando, Florida, April 1-4.

https://obgynupdated.blogspot.com/2017/04/new-natural-bioidentical-estrogen.html

23andMe receives FDA clearance for at home risk testing for 10 genetic diseases.

23andMe become the first ever company that receives FDA clearance for offering consumers at home genetic risk testing for 10 diseases or condition. This is the first direct-to-consumer (DTC) authorization by FDA so that people may know about their genetic predisposition to certain conditions and make lifestyle choices in consultation with health care providers.

Up Till now patients who wanted to get the genetic test done has to see a Physician to order the tests.

https://obgynupdated.blogspot.com/2017/04/23andme-receives-fda-clearance-for-at.html

North American Menopause Society (NAMS) video series about important midlife health topics: April 2017.

In this monthly series, the latest video is “treatment for perimenopause and postmenopausal bleeding” Dr. Goldstein discusses what action must be taken for spotting, staining, or bleeding for perimenopausal and postmenopausal women.

https://obgynupdated.blogspot.com/2017/04/north-american-menopause-society-nams_9.html

23andMe receives FDA clearance for at home risk testing for 10 genetic diseases.

23andMe headquarters in Mountain View,California

23andMe become the first ever company that receives FDA clearance for offering consumers at home genetic risk testing for 10 diseases or condition. This is the first direct-to-consumer (DTC) authorization by FDA so that people may know about their genetic predisposition to certain conditions and make lifestyle choices in consultation with health care providers.

Up Till now patients who wanted to get the genetic test done has to see a Physician to order the tests.

“Consumers can now have direct access to certain genetic risk information,” said Jeffrey Shuren, M.D., director of the FDA’s Center for Devices and Radiological Health. “But it is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease.”

The results provided by these genetic testing have limitations of not providing total risk estimate of a person because the full expression of genetic variant also depends on environmental and lifestyle factors.

The 23andMe Kit 

23andMe testing kit comes with a saliva collection kit with the instruction manual and a prepaid mailing package to send the sample to the lab. The results are in 6-8 weeks’ time which are viewed by customer by logging in the account. The company's Health and Ancestry test cost $199 to the consumers.

The 10 diseases that will be reported in the test results are Parkinson’s disease, Late-onset Alzheimer’s disease, Early-onset primary dystonia, Factor XI deficiency, Gaucher disease type 1, Glucose-6-Phosphate Dehydrogenase Deficiency Hereditary hemochromatosis, Hereditary thrombophilia, Alpha-1 antitrypsin deficiency and Celiac disease.

23andMe previously marketed a Personal Genome Service in the U.S but in 2013 FDA ordered 23andMe to stop selling its genetic kit to consumers because of lack of enough data to support its accuracy. So, today’s decision was a turnaround for the company.

Today’s market authorization is conditioned on the fact that the current or any future Genetic Health Risk (GHR) test results cannot be used as "diagnostic tool." That means, any major treatment decisions cannot be taken based on the GHR test results.

FDA also required that all test results should be communicated in a way that is easy to interpret and follow. FDA is also requiring 23andMe to provide information to consumers about how to obtain access to a board-certified clinical molecular geneticist or equivalent to assist in pre- and post-test counseling.

The US FDA has already authorized 23andMe’s Bloom Syndrome carrier test in 2015 that will tell the consumers whether they are carrier for autosomal recessive disorders that can be passed to their children.

The FDA announcement was met with criticism by some researchers because they believe that it’s going to increase the dilemmas of people who test positive for any disease or trait. They believed that genetic testing should always be carried out in guidance with an expert and along with the ‘pre-test’ conversation and counselling.

The FDA recent press release can be accessed here.

The FDA 2015 press release for first direct-to-consumer genetic carrier test for Bloom syndrome can be accessed here.