On December 7, 2018, an article I co-authored was published in the Journal of Clinical Oncology regarding need to re-examine the national guidelines for who should be tested for genetic predisposition to develop breast or ovarian cancer. We used an 80 gene panel to test over 1,000 patients with breast cancer, half who met NCCN Guidelines recommending genetic testing and half who didn’t. We found no difference in the rate of mutations between the group who met the guidelines and those who didn’t. As a result of this study results, I decided to abandon the national guidelines.
A decade ago, genetic testing for just the BRCA gene could cost over $3,000. Next-generation sequencing and other advancements made panel testing more accessible to the public. Insurers will cover the cost when guideline criteria are met. Even when a patient’s insurance doesn’t cover the testing, the gene panels are $250 or less. Genetic testing for predisposition to breast and ovarian cancer are within reach for most patients and are even available over the Internet.
I now offer genetic testing to all of my breast cancer patients and any patient that requests it regardless of the guidelines. I believe it is important physicians or genetic counselors stay involved in the genetic testing process to ensure patients receive appropriate counseling and follow-up of results with management recommendations. Testing provides peace of mind and gives us the opportunity to either prevent the cancer or to detect at an early stage through appropriate surveillance when the opportunity for cure is highest. It also identifies family members who do not carry the pathological mutations and whose risks are no higher than the general public despite their family history.
Breast and Oncoplastic Surgery
Ironwood Women’s Centers