Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews

Kathleen F Mittendorf, Hannah S Lewis, Devan M Duenas, Donna J Eubanks, Marian J Gilmore, Katrina A B Goddard, Galen Joseph, Tia L Kauffman, Stephanie A Kraft, Nangel M Lindberg, Ana A Reyes, Elizabeth Shuster, Sapna Syngal, Chinedu Ukaegbu, Jamilyn M Zepp, Benjamin S Wilfond, Kathryn M Porter, Kathleen F Mittendorf, Hannah S Lewis, Devan M Duenas, Donna J Eubanks, Marian J Gilmore, Katrina A B Goddard, Galen Joseph, Tia L Kauffman, Stephanie A Kraft, Nangel M Lindberg, Ana A Reyes, Elizabeth Shuster, Sapna Syngal, Chinedu Ukaegbu, Jamilyn M Zepp, Benjamin S Wilfond, Kathryn M Porter

Abstract

Background: Risk assessment for hereditary cancer syndromes is recommended in primary care, but family history is rarely collected in enough detail to facilitate risk assessment and referral - a roadblock that disproportionately impacts individuals with healthcare access barriers. We sought to qualitatively assess a literacy-adapted, electronic patient-facing family history tool developed for use in diverse, underserved patient populations recruited in the Cancer Health Assessments Reaching Many (CHARM) Study.

Methods: Interview participants were recruited from a subpopulation of CHARM participants who experienced barriers to tool use in terms of spending a longer time to complete the tool, having incomplete attempts, and/or providing inaccurate family history in comparison to a genetic counselor-collected standard. We conducted semi-structured interviews with participants about barriers and facilitators to tool use and overall tool acceptability; interviews were recorded and professionally transcribed. Transcripts were coded based on a codebook developed using inductive techniques, and coded excerpts were reviewed to identify overarching themes related to barriers and facilitators to family history self-assessment and acceptability of the study tool.

Results: Interviewees endorsed the tool as easy to navigate and understand. However, they described barriers related to family history information, literacy and language, and certain tool functions. Participants offered concrete, easy-to-implement solutions to each barrier. Despite experience barriers to use of the tool, most participants indicated that electronic family history self-assessment was acceptable or preferable in comparison to clinician-collected family history.

Conclusions: Even for participants who experienced barriers to tool use, family history self-assessment was considered an acceptable alternative to clinician-collected family history. Barriers experienced could be overcome with minor adaptations to the current family history tool.

Trial registration: This study is a sub-study of the Cancer Health Assessments Reaching Many (CHARM) trial, ClinicalTrials.gov, NCT03426878. Registered 8 February 2018.

Keywords: Digital health; Genetics; Hereditary cancer risk assessment; Underserved.

Conflict of interest statement

KFM declares institutional funding from GE Healthcare for unrelated research. PREMM® is a registered trademark of Dana-Farber Cancer Institute (DFCI). SS receives inventor portion of royalties from licensing revenues paid to DFCI. For unrelated work, SS has previously received consulting fees from Myriad Genetics, Inc. and payment for expert testimony from Glaxo-Smith Kline, Inc.

© 2022. The Author(s).

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