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September 18, 2019Cart


by Westchester County Business Journal

Sara Bienenfeld: At-home genetic testing, implications for patients and providers

Genetic Counselor Sara Bienenfeld

If you’ve ever suffered a sleepless night after surfing the “Symptom Checker” on WebMD, you might understand why medicine, and especially oncology, is not best served “direct-to-consumer.” This is why direct-to-consumer genetics tests for cancer risk are concerning for both patients and providers.

Recently, the FDA approved companies such as 23andMe to provide customers with information on three genetic variants found on the BRCA1 and BRCA2 genes that can indicate higher risk for breast, ovarian, prostate and other cancers, without ordering a health care provider.

As health care providers, our primary goal is to offer exceptional care for the community. When our patients are aware and informed, the insight they provide is invaluable in assessing their cancer risk. Proponents of home testing note that some women might not have a full picture of their family history and therefore might not seek genetic testing nor know they harbor BRCA1 or BRCA2 mutations until after being diagnosed with cancer. The problem is that tests like these do not provide a full and complete picture of one’s cancer risks. Comprehensive and complete genetic testing is a complex process. So, are our patients best served by taking this on by themselves?

Interpreting test results without the support of an experienced genetic counselor or oncologist can be misleading and confusing. It’s akin to a patient surfing the web in order to self-diagnose symptoms.

What’s important for consumers to know is that current hereditary cancer screenings focus on much larger genetic panels and that people with a significant family history of cancer should have testing that is much more extensive than the BRCA genes alone. Significant implications for other cancer risks might be overlooked.

For example, the newly approved 23andMe test focuses solely on three specific mutations in the BRCA1 and BRCA2 genes, which are most commonly observed in the Eastern European, or Ashkenazi, Jewish population. The test does not analyze the remainder of the BRCA1 and BRCA2 genes nor does it test for a multitude of other genes that when mutated increase the risk for cancer.

Pre- and post-test counseling also are an important part of the genetic testing process. They help ensure the patient: (a) pursues the most appropriate genetic test based on their personal and family history, and (b) understands the implications of the results — whether positive, negative or inconclusive. Without counseling, at-home genetic testing can cause undue stress or harmful complacency. Individuals may not understand the options available to them if they have a mutation or what it might mean for other family members. Conversely, negative results may also lead some individuals to forgo appropriate routine screening
such as mammograms.

We have found that the best way to win the fight against cancer is through a multidisciplinary team approach. Here at White Plains Hospital, our team of oncologists and genetic counselors help identify patients who should get tested, identify the appropriate panels of genes to be tested, guide patients and their families in interpreting the results, and place patients into appropriate surveillance programs. The insight and guidance given to patients is, quite frankly, life saving. At-home tests might deter patients from seeking professional support that can identify cancer at its earliest stage, when it’s most treatable.

The upside of the attention for at-home genetic tests for cancer risk is just that — attention. It is our hope that news about at-home genetic testing sparks conversations about cancer risk. As terms like BRCA1 and BRCA2 enter the popular lexicon, and consumers become more aware that these genes are associated with a significantly higher risk of breast, ovarian, and other cancers, it helps shine a light on the importance of genetic testing.

The health care industry has come a long way in enhancing community health and technology has played a crucial role. Today, we have more in our arsenal to identify, prevent and treat diseases such as cancer than ever before. We have access to the latest cancer clinical trials that are transforming the future of cancer care right here in the community. In the last decade, we’ve seen breathtaking results for immunotherapy, letting us implement novel, cutting-edge treatments that eliminate a cancer’s ability to evade our immune system.

As health care providers, we wholeheartedly embrace technology and all that it does to enhance community health. But, providing exceptional care to the community means engaging with our community. When we make that human connection with our patients we are best able to leverage everything in our arsenal to preserve what’s most important — the well being of our Westchester community.

Sara Bienenfeld is a certified genetic counselor with White Plains Hospital’s Center for Cancer Care. She can be reached at For more information on genetic screening to determine cancer risk, call 914-849-7658 or visit