When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research.

PURPOSE: Genetic results are important for both patients and their biological relatives. However, cascade screening (CS) uptake is low, especially when testing occurs through research programs and not clinical care. Ethical guidance is needed for CS implementation when individuals receive clinical genetic results through research.

METHODS

We conducted focus groups with 3 groups of individuals in the Clinical Sequencing Evidence-Generating Research Consortium: clinicians, patient representatives, and scholars of the ethical, legal, and social implications of genomics. We used inductive thematic and comparative analyses to analyze data within and across the groups.

RESULTS

All participants (n = 27) agreed that researchers have an obligation to provide resources to participants about CS and generally felt that answering genetics-related questions from participants' relatives was appropriate. However, there was disagreement regarding whether studies are obliged to fund genetic testing for relatives. Participants' rationales were rooted in attitudes about the clinical-research interface, influences on research enrollment, inclusion of underrepresented communities, and appropriate stewardship of funds.

CONCLUSION

Ethical tensions and logistical hurdles arise when considering CS that bridges research and clinical settings. Additional study of the appropriateness and feasibility of testing for relatives, especially in genomics in which distinctions between research and clinical care are often blurred, is needed.