Disclosures: Parente reports no relevant financial disclosures.
January 13, 2021
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Most women who may benefit from BRCA-related genetic counseling do not receive it

Disclosures: Parente reports no relevant financial disclosures.
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Recent findings showed that more than 80% of women who met nationally recommended criteria to receive counseling and testing for gene variants that put them at greater risk for breast cancer did not receive this type of referral.

Based on current guidance from the U.S. Preventive Services Task Force (USPSTF), women who have a family history of certain types of cancer should be screened to determine if they have an increased risk for BRCA1 or BRCA2 mutations. Additionally, women with an ethnicity or ancestry linked to the genetic mutations — for example, Ashkenazi Jewish ancestry — should also be screened.

Among 97 women who met criteria for BRCA-related genetic counseling or testing, 82.4% were not referred.
Reference: Parente DJ. J Am Board Fam Med. 2020;doi:10.3122/jabfm.2020.06.190461.

The USPSTF’s “referral criteria have changed over time as the USPSTF analyzed new evidence,” Daniel J. Parente, MD, PhD, an assistant professor of family medicine and community health at the University of Kansas Medical Center, told Healio Primary Care. “It was not clear how many women met current referral criteria, or how often physicians actually made appropriate referrals.”

Daniel J. Parente

Parente conducted a needs assessment survey among 397 English-speaking women from an urban medical center. Approximately half the women were white, and about one-third were aged 30 to 39 years. They were asked 12 questions regarding personal and family history of breast, fallopian tube, ovary or peritoneum cancers, the age and frequency of cancer diagnosis and whether they received genetic counseling or testing.

“The survey used the USPSTF-recommended Seven Question Family History Screening (FHS-7) instrument” that was modified to increase comprehension among patients with low health literacy, and it removed family history of bilateral breast cancer as a reason for referral, Parente said.

He found that nearly a quarter of women in the survey met USPSTF criteria for BRCA-related cancer genetic counseling and/or testing. According to Parente, this “markedly differs” from previous estimates of about 5% of women who met the criteria for referral. However, the previous research was based on “more stringent” USPSTF recommendations from 2005, which he said could account for the difference.

In addition, only 17 (17.6%) of the 97 women in his study who met the USPSTF criteria for referral went on to receive counseling and testing. The most common indication for BRCA-related genetic counseling was family history of female breast cancer before reaching 50 years of age, followed by multiple relatives with breast, bowel and/or ovarian cancer, having a first-degree relative with breast and/or ovarian cancer, and having a female relative with both breast and ovarian cancer.

Parente said the true need for genetic counseling and/or testing referral may be slightly greater than what he identified in the study, possibly due to his FHS-7 modifications. He also did not include ancestry-related indications for BRCA and women with a prior history of potentially BRCA-related malignancy as possible cohorts for genetic counseling referrals.

Parente said “the use of genetic information in primary care is still in its infancy,” but that may change as genomic sequencing becomes more affordable.

“Primary care physicians should recognize that many women who they see in everyday practice may need referral to genetic counseling,” he said. "We will also need better understanding of how specific genetic changes influence specific patient outcomes.”

Parente recommended that health systems “appropriately allocate capacity to genetic counseling services and/or reconsider the appropriateness of FHS-7 as a primary care risk-stratification tool.”