Better Counseling, Uptake of BRCA1/2 Testing Needed in Hereditary Breast and Ovarian Cancer

The development of BRCA-targeted therapies might offer the best opportunities to bring pancreatic ca
The development of BRCA-targeted therapies might offer the best opportunities to bring pancreatic ca
A review of the literature identified interventions that may increase understanding and uptake of genetic testing for BRCA1/2 variants.

Decisions regarding treatment and prevention of hereditary breast and ovarian cancer (HBOC) may be informed by pathogenic BRCA1/2 variants, but rates of germline genetic testing are suboptimal. Novel interventions that support informed BRCA1/2 testing decisions are needed. These findings were presented in a poster presentation at the 48th Annual Oncology Nursing Society (ONS) Congress.

Knowledge, attitudes, and beliefs influence patient decisions regarding genetic testing; however, genetic counseling can promote informed decision making on testing. But there are not enough genetic counselors to meet the need. Therefore, researchers sought to determine what is known about interventions that promote informed decisions regarding genetic testing.

They conducted a review of the PubMed, CINAHL, Web of Science, and PsycINFO databases using search terms related to HBOC, genetic testing, and decision making. Of 2089 unique citations, 25 articles published between 1997 and 2021 met eligibility criteria.

The articles described randomized trials (23 [92%]) and nonrandomized, quasi-experimental studies (2 [8%]). Most of them tested genetic counseling models (8 [32%]) and educational interventions (10 [40%]). Nearly half (11 [44%]) of the studies were designed to complement traditional genetic counseling.

Interventions included 1 or more of the following: written materials (9/25 [36%]); interactive software and decision aids (6/25 [24%]); and telephone (6/25 [24%]), individual (4/25 [16%]), or group  (3/25 [12%]) genetic counseling.

Of the interventions that were compared with genetic counseling, 6 of 8 (75%) increased or had a noninferior effect on knowledge and 4 of 6 (67%) decreased or had a noninferior effect on decisional conflict.

These results show that novel interventions can promote informed decision making on BRCA1/2 genetic testing regarding HBOC, but many interventions were developed to complement traditional genetic counseling rather than stand alone.

Comparisons of findings across studies was limited by differences in outcome measures and changes in BRCA1/2 testing guidelines over time. The researchers suggest that further trials comparing novel interventions to genetic counseling are warranted.

Reference

Pozzar R, Seven M. Interventions to support informed decision making about germline genetic testing for pathogenic BRCA 1/2 variants: a scoping review. Poster presentation at: 48th Annual ONS Congress; April 26-30, 2023; San Antonio, TX.