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01 · ABSTRACT

Abstract

Cascade genetic testing, a highly effective method of identifying high penetrance cancer risk mutations in the family, is a promising method of prevention. Cascade testing is defined as directed genetic testing of at-risk relatives of individuals known to have actionable mutations However, it is tremendously underutilized in clinical practice, and the reasons are complex and diverse. We discuss these reasons and consider areas of research for key findings, strengths and weaknesses. We offer testable solutions for increasing interest and use of cascade testing opportunities in families and in clinical practice using colorectal cancer as an example. This area of clinical research has great potential to save lives by improving cancer prevention and early detection in families at high genetic risk, and should be actively pursued with resources and ideas. 

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02 · PUBLICATION RECORD

Article details

JournalMedical Research Archives
IssueVol 10 No 2 (2022): Vol.10 Issue 2, February, 2022
SectionResearch Articles
Published24 February 2022
DOI10.18103/mra.v10i2.2629
ISSN2375-1924
03 · RIGHTS & REUSE

Rights & reuse

This article is published under a Creative Commons Attribution License (CC BY 3.0) and may be shared or distributed by anyone as long as attribution is given to the journal.

Authors & affiliations

ED

EJ Dusic

Program in Public Health Genetics, University of Washington

Medical Research Archives

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