Abstract
The reanalysis of genomic sequencing results has the potential to provide results that are of considerable medical and personal importance to recipients. Employing interviews with forty-seven predominantly medically underserved families and ethnographic observations we argue that there is pressing need to standardize the approach taken to reanalysis. Our findings highlight that study participants were unclear as to the likelihood of reanalysis happening, the process of initiating reanalysis, and whether they would receive revised results. Their reflections mirror the lack a specific focus upon reanalysis within consent and results sessions as observed in clinical settings. Mechanisms need to be put into place that standardize the approach to reanalysis in research and in clinical contexts. This would enable clinicians and genetic counsellors to communicate clearly with research participants with respect to potential for reanalysis of results and the process of reanalysis. We argue that that the role of reanalysis is too important to be referred to in an ad-hoc manner. Furthermore, the ad-hoc nature of the current process may increase health inequities given the likelihood that only those families who have the means to press for reanalysis are likely to receive it.
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Declaration of Competing Interests
The authors declare no conflict of interest.
Data Availability Statement
The datasets from which excerpts are presented in this article are not readily available as a condition of the study is that raw data will not be shared outside of the research team. Upon request, sections of the data may be provided for specific research requests after the permissions of participants are requested and received.
Ethics Statement
The study was approved by the UCSF Institutional Review Board.
Funding
Research reported in this publication was supported by the National Human Genome Research Institute of the National Institutes of Health under Award Number U01HG009599. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
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Outram, S.M., Rego, S., Norstad, M. et al. The Need to Standardize the Reanalysis of Genomic Sequencing Results: Findings from Interviews with Underserved Families in Genomic Research. Bioethical Inquiry 21, 95–104 (2024). https://doi.org/10.1007/s11673-023-10267-2
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DOI: https://doi.org/10.1007/s11673-023-10267-2