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By Ackerman Cancer Center


FDA Approval of At-Home Genetic Testing for Cancer

Recently, the U.S. Food and Drug Administration approved a new at-home test kit designed to identify genetic mutations that could raise the risk of developing breast, prostate and ovarian cancers. But many in the healthcare world have concerns about how individuals will interpret the results of these at-home tests. 

The testing is part of a $199 kit from genetics testing company 23AndMe. The kit, which requires only a simple saliva sample, is primarily used to determine ancestry but includes an option to test for the BRCA1 and BRCA2 genes, mutations known to increase breast cancer risk.

While the science behind the kits is sound and results accurate, but the question of interpreting the results is what is concerning. Oncologists worry that the tests could be misinterpreted or falsely reassuring. Here is why:

  • The test analyzes three founder mutations of the BRCA1 and BRCA2 genes but doesn’t take into account the more than 1000 other mutations of the genes which could raise breast cancer risk by 45% to 65%. This means a negative test result isn’t proof-positive that an individual is at low risk of developing cancer.
  • The three mutations the 23AndMe test covers are most common among Ashkenazi Jews from Eastern Europe, a small population, and only occur in about 2% of that group. In the remaining population, the percentage affected is nearly zero.
  • Inherited genetic mutations like BRCA are responsible for only about 5-10% of breast cancers and testing is typically only recommended for those with a strong family history of breast or ovarian cancer (something not taken into account when using a home kit).
  • A negative test result on the 23AndMe at-home test is NOT a guarantee that cancer risk is low, since only three mutations are analyzed. The testing also does not take into account other genetic, environmental or lifestyle factors that could raise cancer risk.

Genetic testing is best done under the guidance of genetic counselors and physicians who can help patients prepare for such tests, interpret the results and discuss appropriate treatment options. Those who do opt for at-home genetics testing are advised not to make medical decisions based on the results.

It is encouraging that genetics testing is becoming more widely available and consumers can enjoy the convenience and accessibility of these tests. The concern comes from the handling of results. Testing should be viewed as a first step with both positive and negative results discussed with a physician who can analyze them and determine individual risk.

For questions on genetics testing and cancer risk, please contact us at 904-880-5522.

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