Aligning Policy to Promote Cascade Genetic Screening for Prevention and Early Diagnosis of Heritable Diseases

Overview

Journal J Genet Couns

Publisher Wiley

Specialty Genetics

Date 2015 Jan 12

PMID 25577298

Citations 51

Authors

Rani George

Karen Kovak

Summer L Cox

Affiliations

Soon will be listed here.

Abstract

Cascade genetic screening is a methodology for identifying and testing close blood relatives of individuals at increased risk for heritable conditions and follows a sequential process, minimizing testing costs and the number of family members who need to be tested. It offers considerable potential for cost savings and increased awareness of heritable conditions within families. CDC-classified Tier 1 genomic applications for hereditary breast and ovarian cancer syndrome (HBOC), Lynch Syndrome (LS), and familial hypercholesterolemia (FH) are recommended for clinical use and support the use of cascade genetic screening. Most individuals are unaware of their increased risk for heritable conditions such as HBOC, LS, and FH. Consistent implementation of cascade genetic screening could significantly increase awareness and prevention of heritable conditions. Limitations to effective implementation of cascade genetic screening include: insufficient genetic risk assessment and knowledge by a majority of healthcare providers without genetics credentials; a shortage of genetic specialists, especially in rural areas; a low rate of reimbursement for comprehensive genetic counseling services; and an individual focus on prevention by clinical guidelines and insurance coverage. The family-centric approach of cascade genetic screening improves prevention and early diagnosis of heritable diseases on a population health level. Cascade genetic screening could be better supported and augmented through changes in health policy.

Citing Articles

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Patients' perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent).

Tiller J, Finlay K, Madelli E, Monnik M, Jackson M, Poplawski N Eur J Hum Genet. 2024; .

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Factors Impacting Intent to Share Multigenic Cancer Testing Results in a Community Hospital Setting.

Siddiqui W, Pacyna J, Phelan S, Jones J, Samadder N, Sharp R J Pers Med. 2024; 14(9).

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Innovative Implementation Strategies for Familial Hypercholesterolemia Cascade Testing: The Impact of Genetic Counseling.

Morgan K, Campbell-Salome G, Walters N, Betts M, Brangan A, Johns A J Pers Med. 2024; 14(8).

PMID: 39202032 PMC: 11355397. DOI: 10.3390/jpm14080841.

Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review.

Chiang J, Chua Z, Chan J, Sule A, Loke W, Lum E NPJ Genom Med. 2024; 9(1):26.

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