Patient and Family Preferences on Health System-Led Direct Contact for Cascade Screening

Nora B Henrikson,Kathleen A Leppig,Paula Blasi,Aaron Scrol,John Ewing,Marlaine Figueroa Gray,Stephanie M Fullerton,Brooks T Tiffany,James D Ralston,Catherine Y Lim

doi:10.3390/jpm11060538

Abstract

Health benefits to relatives of people at known genetic risk for hereditary cancer syndromes is key to realizing the promise of precision medicine. We conducted a qualitative study to design a patient- and family-centered program for direct contact of relatives to recommend cascade genetic testing. We conducted two rounds of data collection using focus groups followed by individual interviews with patients with HBOC or Lynch syndrome and a separate sample of people with a family history of hereditary cancers. Results indicate that U.S.-based health system-led direct contact of relatives is acceptable to patients and families, should take a programmatic approach, include consent of relatives before proband testing, complement to existing patient-mediated disclosure, and allow for relative control of information. Our findings suggest a set of requirements for U.S.-based direct contact programs that could ultimately benefit more relatives than current approaches.

Highlights

Health benefits to relatives of people at known genetic risk for hereditary cancer syndromes is key to the promise of precision medicine
Data from other countries with industrial economies suggest that direct contact programs—where health systems or providers conduct risk disclosure directly to family members—may be the most effective method of relative notification, but such programs have not been implemented in the U.S our pilot work revealed a lack of clarity in how to develop and implement a family-based program in a system designed for individual patient care [8]
Our work suggests that direct contact programs are an acceptable complement to existing patient-mediated U.S.-based cascade screening efforts

Summary

Introduction

Health benefits to relatives of people at known genetic risk for hereditary cancer syndromes is key to the promise of precision medicine. Key to this is cascade screening— case finding in people with known pathogenic variants. In the United States, the responsibility for notifying family members of potential risk falls to the individual patients [1]. Each family member assumes responsibility for initiating their own genetic testing or follow-up care. Up to a third of at-risk relatives may go unnotified [2,3,4,5], representing a missed opportunity to benefit from genetic counseling, testing, and appropriate clinical follow-up [6]. Two of three patients with actionable genetic test results reported only partial disclosure to family members [7]

Methods

Results

Conclusion