Genetic Counselor Mandate Creates a Barrier to BRCA1/2 Testing, New Study Finds

Payer Policies Reduce Appropriate Testing and Quality of Care

COLUMBIA, Md.--()--Healthcare payer mandates for consulting with a genetic specialist prior to BRCA1/2 genetic testing creates a significant barrier to care, particularly for minority patients, according to research published this week in the Journal of Oncology Practice. The large, nationwide study found that when pre-testing consults were required, test cancellation rates increased overall from 13.3% to 42.1% for at-risk patients whose cancer-related specialists had ordered exams. Cancellations increased from 9.5% to 37.7% for patients who met more stringent National Comprehensive Cancer Network (NCCN) testing criteria. For patients of African or Latin descent, rates increased to 48.9% and 49.6% respectively.

Significantly, the study found that most cancellations were for patients who met testing criteria and would potentially benefit from the knowing the results.

“A critical shortage of genetic counselors and medical geneticists means that often patients must endure extremely lengthy waiting periods for a pre-testing appointment. Also, they may not have access to these professionals locally,” says Sheldon Feldman, MD, FACS, Chief of Breast Surgery Division of New York-Presbyterian Hospital/Columbia University Medical Center and President of the American Society of Breast Surgeons (ASBrS), whose membership have been vocal in their objection to this policy as an impediment to appropriate genetic testing. Lead authors of the paper are a past chairman of the board of the ASBrS, Pat Whitworth, MD, FACS, Director of the Nashville Breast Center, and a former president of the ASBrS, Peter Beitsch, MD, FACS, of the Dallas Surgical Group. Numerous other medical societies have voiced similar objections.

“This policy is extremely detrimental to patient care, and the difficulties are easily rectified,” Dr. Feldman notes. “Numerous physician specialists have specific training that qualifies them to evaluate, counsel and appropriately order tests for at-risk patients, helping to streamline and broaden testing access for those who qualify. Breast surgeons and other breast health physicians in particular have played a leading role in this testing since its inception. Many related specialists have been providing these services since the mid-1990s, and genetic consultations not only compromise patient care but also impose new limits on the scope of these physicians’ practices.”

With the growth of hereditary cancer genetic testing, increasingly payers are requiring genetic consults with the stated goal of minimizing inappropriate testing. However, less than 10% of BRCA1/2 carriers currently have been identified1 and made aware of their risks so that they may pursue potentially life-saving preventative and detection strategies.

“Failure to test qualifying patients has a range of negative consequences,” points out Julie Margenthaler, MD, professor of surgery, Washington University School of Medicine and ASBrS board member. “In the age of personalized medicine, BRCA test results are playing an increasingly important role in shaping cancer treatment plans and can support more precise, targeted care. They also significantly impact research that can contribute immensely to better diagnosis and treatment of cancer in the future. This study also suggests that these new restrictions may have greater impact on underserved populations, broadening the economic discrepancy in quality of cancer care.”

Dr. Whitworth, the study’s lead author, notes that this was a large well-controlled study with clear findings. It focused on patients covered by a large insurance payer that recently adopted a genetic specialist evaluation policy. Using a commercial lab BRCA testing database, the study looked at the number of tests ordered that did not result in a final report to determine test cancellation rates. This data was gathered for a 12 month period prior to and following adoption of the policy, with a four month hiatus to compensate for policy adoption.

The reasons for test cancellation were tracked using a variety of measures. Missing insurance information, typically due to failure to meet with a genetic counselor to complete the data, emerged as the primary cause. “Notably,” says Dr. Whitworth, “the mutation positive rate in the pre- and post-mandatory counseling remained similar, suggesting that patients were not being inappropriately referred.”

The study also included a control group of patients covered by a competing insurance company not requiring genetic specialist consultation for BRCA testing. This group was examined for the same time period. The control group’s test cancellation rates remained low and changed little throughout the study period.

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1 Drohan B, Roche CA, Cusack JC, Jr, et al: Hereditary breast and ovarian cancer and other hereditary syndromes: Using technology to identify carriers. Ann Surg Oncol 19:1732-1737, 2012 Medline


The American Society of Breast Surgeons
Sharon Grutman, 877-992-5470

Release Summary

New research shows healthcare payer mandates for consulting with a genetic specialist prior to BRCA1/2 genetic testing creates a significant barrier to care, particularly for minority patients.


The American Society of Breast Surgeons
Sharon Grutman, 877-992-5470