Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system

Abstract

Background Evidence shows underutilization of cancer genetics services. To explore the reasons behind this underutilization, this study evaluated characteristics of women who were referred for genetic counseling and/or had undergone BRCA1/2 testing. Methods An ovarian cancer risk perception study stratified 16,720 eligible women from the Henry Ford Health System into average-, elevated-, and high-risk groups based on family history. We randomly selected 3,307 subjects and interviewed 2,524 of them (76.3% response rate). Results Among the average-, elevated-, and high-risk groups, 2.3, 10.1, and 20.2%, respectively, reported genetic counseling referrals, and 0.8, 3.3, and 9.5%, respectively, reported having undergone BRCA testing. Personal breast cancer history, high risk, and perceived ovarian cancer risk were associated with both referral and testing. Discussion of family history with a doctor predicted counseling referral, whereas belief that family history influenced risk was the strongest BRCA testing predictor. Women perceiving their cancer risk as much higher than other women their age were twice as likely (95% confidence interval: 2.0–9.6) to report genetic counseling referral. Conclusion In a health system with ready access to cancer genetic counseling and BRCA testing, women who were at high risk underutilized these services. There were strong associations between perceived ovarian cancer risk and genetic counseling referral, and between a belief that family history influenced risk and BRCA testing.

A feasibility study of breast cancer genetic risk assessment in a federally qualified health center

“…The strategy tested was very effective at improving referrals for GC among high risk women (0% at baseline vs. 64% following the intervention for the subgroup of participants who were seen both before and after initiation of universal CGRA). The 56% overall rate of guideline-concordant referral for genetic counseling attained after instituting universal CGRA is, to our knowledge, the highest rate reported for unaffected women who have a high risk family history 25,34–36 . An observational study by Bellcrosse and colleagues 35 that relied on self-reports found that only 14% of women unaffected by breast cancer who met USPSTF guidelines for GC were referred.…”

“…Others have reported similarly low utilization of cancer genetic services for unaffected women with a high risk family history. 25,34–36 However, none of those studies were able to clearly isolate the contribution of low rates of PCP referral vs. non-compliance among referred women. More work is needed to understand the beliefs and barriers that prevent underserved women from accessing cancer genetic services when it is recommended.…”

“…11 Available evidence indicates that PCPs are not routinely incorporating cancer genetic risk assessment (CGRA) into their practices. 20–25 African American women are even less likely than non-Hispanic white women to receive genetic counseling (GC) and DNA testing for breast cancer susceptibility. 26–30 …”

Validation of an Efficient Screening Tool to Identify Low-Income Women at High Risk for Hereditary Breast Cancer

“…In addition, primary care clinicians and many mammography clinics may collect family history information but referrals to genetic counseling have been inconsistent [11]. Access to counseling and testing for the uninsured and those of low income is a recent development.…”

The Limitations of Genetic Testing in Psychiatry

“…For example, about 10% of cases of breast cancer have an autosomal dominant pattern of transmission, most commonly mutations in the tumor suppressor genes BRCA1 and BRCA2 [4]. When BRCA1/2 mutations are found, healthy women are offered a very close follow-up, as well as prophylactic antiestrogen therapy or surgery, yet in one study only 9.5% of high-risk women even underwent genetic counseling, let alone testing [5]. Breast cancer risk alleles have also been found for p53, PTEN (phosphate and tensin homolog deleted from chromosome 10), STK11, CDH1 and PALB2; however, these genetic factors are rare, and there is not much research on screening protocols for them [4].…”