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How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: a Mini-Review

  • Genetic Counseling and Clinical Testing (B LeRoy and N Callanan, Section Editors)
  • Published:
Current Genetic Medicine Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

Cascade testing, or screening, is the process of stepwise, systematic genetic testing of at-risk relatives for a genetic variant originally identified in a proband. Cascade testing effectively identifies at-risk relatives who would benefit from early screening and/or medical intervention, and can potentially lead to early diagnoses and disease prevention. However, recent studies highlight the need for additional resources to enhance family communication and improve the cascade testing process. In this mini-review of cascade testing, we discuss various factors that influence the effectiveness of communicating genetic risk information among families, including barriers, provision of additional resources, direct contact, and the role of technology and healthcare providers.

Recent Findings

Patients desire and value involvement of healthcare providers in the cascade testing process. Uptake of cascade testing increases when patients are provided with educational materials and technological resources, and when healthcare providers assist with communicating risk to their at-risk relatives.

Summary

Through achievable adjustments in patient care, healthcare providers can facilitate family communication and uptake of cascade testing. This can be done by asserting the importance of genetic testing results to at-risk family members when reviewing results with patients and leveraging technological tools and other options for direct contact to maximize the benefits of earlier diagnosis and prevention.

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Papers of particular interest, published recently, have been highlighted as: • Of importance

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Authors and Affiliations

  1. Genomic Medicine Institute, Geisinger, Danville, PA, USA

    Rachel Schwiter, Alanna Kulchak Rahm, Janet L. Williams & Amy Curry Sturm

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  1. Rachel Schwiter
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  2. Alanna Kulchak Rahm
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Correspondence to Amy Curry Sturm.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Genetic Counseling and Clinical Testing

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Schwiter, R., Rahm, A.K., Williams, J.L. et al. How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: a Mini-Review. Curr Genet Med Rep 6, 21–27 (2018). https://doi.org/10.1007/s40142-018-0134-0

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  • DOI: https://doi.org/10.1007/s40142-018-0134-0

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