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Challenges and opportunities for Lynch syndrome cascade testing in the United States

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Abstract

Lynch syndrome is an underdiagnosed genetic condition that increases lifetime colorectal, endometrial, and other cancer risk. Cascade testing in relatives is recommended to increase diagnoses and enable access to cancer prevention services, yet uptake is limited due to documented multi-level barriers. Individual barriers such as feelings of fear, guilt, and anxiety and limited knowledge about Lynch syndrome as well as interpersonal barriers including complex family dynamics and language barriers limit family communication about Lynch syndrome and prevent uptake of genetic screening for relatives. Organizational and environmental barriers including a shortage of genetics professionals, high costs, and fears of discrimination also reduce cascade testing. These multi-level barriers may disproportionately impact underserved populations in the United States, such as individuals with lower incomes, limited English-speaking proficiency, lower educational attainment, and inadequate access to health systems. Multi-level facilitators of cascade testing include interpersonal support from family members, peers, and healthcare providers, educational resources, and motivation to improve family health. Taken together, these barriers and facilitators demonstrate a need for interventions and strategies that address multi-level factors to increase cascade testing in families with Lynch syndrome and other hereditary cancer conditions. We provide an example of a cascade testing intervention that has been developed for use in individuals diagnosed with Lynch syndrome and discuss the variety of current approaches to addressing these multi-level barriers.

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Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

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Acknowledgements

The research presented in the paper was conducted while the first author was in training.

Funding

This work was in part funded by an IBM Junior Faculty Development Award from the University of North Carolina at Chapel Hill and the National Center for Advancing Translational Sciences, National Institutes of Health, through Grant KL2TR002490 to Dr. Megan Roberts.

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Authors and Affiliations

  1. Division of Pharmaceutical Outcomes and Policy, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America

    Lauren E Passero & Megan C Roberts

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  1. Lauren E Passero
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Contributions

All authors contributed to the contents of this perspective. This perspective was co-written by Lauren Passero and Megan Roberts. All authors gave final approval of this version to be published.

Corresponding author

Correspondence to Megan C Roberts.

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Ethical approval

The qualitative study reported in this paper was granted an exemption from human subjects review by the Office of Human Research Ethics at the University of North Carolina at Chapel Hill (Study Number 21–0643).

Informed consent

All participants provided verbal informed consent prior to study enrollment. All procedures followed were in accordance with US Federal Policy for the Protection of Human Subjects.

Conflicts of interest

Lauren Passero is a predoctoral fellow funded by Bristol Myers Squibb. Dr. Megan Roberts’ spouse hold stock in Merck and Thermo Fisher Scientific. The content is solely the responsibility of the authors and does not necessarily represent the official view of the NIH.

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No non-human animal studies were carried out by the authors for this article.

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Passero, L.E., Roberts, M.C. Challenges and opportunities for Lynch syndrome cascade testing in the United States. Familial Cancer (2024). https://doi.org/10.1007/s10689-024-00374-3

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