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Age and perceived risks and benefits of preventive genomic screening

Subjects

Abstract

Purpose

As genome sequencing moves from research to clinical practice, sequencing technologies focused on “medically actionable” targets are being promoted for preventive screening despite the dearth of systematic evidence of risks and benefits and of criteria for selection of screening subjects. This study investigates researchers’ and research participants’ perceptions of these issues within the context of a preventive genomic screening study, GeneScreen.

Methods

We recorded researcher deliberations regarding age eligibility criteria and the risks and benefits of screening, and conducted interviews with 50 GeneScreen participants about their motivations for joining and their perceptions of risks and benefits.

Results

Researchers made assumptions about who would want and benefit from screening based on age. After discussion, researchers opted not to have an upper age limit for enrollment. Participants of all ages perceived similar benefits, including prevention, treatment, and cascade testing, and similar risks, such as insurance discrimination and worry.

Conclusion

While clinical benefits of preventive genomic screening for older adults are debatable, our respondents perceived a range of benefits of screening in both clinical and research settings. Researchers and clinicians should carefully consider decisions about whether to exclude older adults and whether to provide information about benefits and risks across age groups.

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Acknowledgments

Support for this article was funded by the National Institutes of Health grant 2P50HG004488 (G.E.H.) and K99HG008819 (A.E.R.P.). The authors thank Eric T. Juengst, Karen Meagher, Myra Roche, and Kate Saylor for helpful comments on drafts of this paper. Many thanks also to those who participated in the GeneScreen study.

Author information

Conflict of Interest

The authors declare no conflict of interest.

Correspondence to Margaret Waltz PhD.

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