Stakeholder perspectives on overcoming barriers to cascade testing in Lynch syndrome: A qualitative study

Swetha Srinivasan 1, Heather Hampel 2, Jennifer Leeman 3, Amit Patel 4, Alanna Kulchak Rahm 5, Daniel S Reuland 6, Megan C Roberts 7

Affiliations

PMID: 32727822
DOI: 10.1158/1940-6207.CAPR-20-0141

Abstract

Cascade testing (i.e., genetic testing of family members of individuals with disease) among families affected by hereditary cancer disorders, such as Lynch syndrome (LS), is suboptimal and thus represents a missed opportunity in cancer prevention. We aimed to fill a gap in the literature by exploring multilevel barriers and facilitators to the implementation of cascade testing for LS. We conducted semi-structured, in-depth interviews guided by the Consolidated Framework for Implementation Research and the Integrated Behavioral Model among key stakeholders (n=60): LS patients and relatives (n=20), providers (n=20) and administrators (n=20). Transcripts were double-coded (20% sample) using template analysis in ATLAS.ti. Barriers identified included (1) low awareness about LS, (2) psychosocial barriers, (3) lack of provider follow-up, (4) accessibility to genetic counseling, and (5) fear of discrimination. Facilitators included (1) motivation to engage in cascade testing, and (2) free genetic testing offered to relatives. Stakeholders also recommended strategies to overcome implementation barriers in the short-term (increasing education, preparing patients for communicating with relatives), medium-term (optimizing clinical workflow and staffing resources) and long-term (nation-wide standardization). These findings indicate that modifiable, multilevel barriers to the implementation of cascade testing in LS are experienced across stakeholders. Understanding and targeting implementation barriers is imperative to achieving public health impact of precision health interventions such as cascade testing.