by James Goldberg, MD, Counsyl Chief Medical Officer
One of our most powerful weapons in the fight against cancer – genetic testing – remains greatly underused. As inherited genetic mutations play a major role in five to 10 percent of all cancers, it’s possible that up to 1.4 million cancer diagnoses globally could have been discovered through testing and treated earlier. Counsyl is committed to removing barriers to genetic testing, and uncovered a significant opportunity to do so right in the exam room.
We assumed that conversations about inherited cancer screenings would occur regularly between oncologists and their patients as the technology became available. They rarely do, according to a Journal of American Medical Association study published earlier this year on newly diagnosed breast cancer patients. While 81 percent of surveyed women wanted testing, only 51 percent actually received a genetic test. The majority of respondents did not get tested because their doctors did not recommend it.
In digging deeper into women’s health and cancer, we discovered that vital discussions about genetic testing should occur at what may seem like an unlikely time – when women are asymptomatic and seeing an OB-GYN, long before a cancer specialist is ever consulted.
Realizing that the onus is increasingly on women’s health providers to offer guidance to patients who may be genetically predisposed to developing certain hereditary cancers, Counsyl is deepening its focus on inherited cancer screening in women’s health such that these tests can reach the right people at the right time – before cancer starts to develop. This is the potential that genetic screening for inherited cancers holds, and Counsyl’s goal is to help as many patients as possible.

Victoria R. Counsyl Inherited Cancer Screen patient, negative for BRCA1 and BRCA2

Since the early days of genetic testing for inherited cancers, screening has evolved with continual discovery of more cancer-related genes and expanded testing capabilities for assessing hereditary cancer risk, and a greater understanding among physicians as to what constitutes an at-risk patient. For example, a woman with no family history of breast or ovarian cancer can still be a carrier of a BRCA1 or BRCA2 genetic mutation, facing a 50 to 85 percent chance of developing breast cancer and up to a 45 percent chance of developing ovarian cancer in her lifetime. The growth of the genetic counselor profession and the important work they do in helping patients choose a testing option and interpret their results have helped more people get tested and more physicians have informed discussions about genetic screening with their patients.
But there is more to be done. Integrating screens into clinical practice remains a challenge for providers, and patients who meet cancer screening guidelines are still not getting tested. To that end, Counsyl is committed to making hereditary cancer screening accessible to those who can benefit from it.  We have also developed workflow solutions with the women’s health clinician in mind,  including on-demand genetic counseling for patients and providers. All this helps OB-GYNs focus on providing better care to patients who need it and assuage patients’ concerns on insurance coverage and the process and benefits of genetic testing.
We are also collaborating with OB-GYNs and other women’s health providers to uncover what other roadblocks exist in getting more at-risk women tested, and would love to hear from those who would like to share their experiences with inherited cancer screens. Together, we can further preventative care for today’s patients and future generations alike so they can proactively make informed decisions that can help them lead healthier lives.
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