Title

Expanded Carrier Screening (ECS): Clinical and Ethical Considerations for Genetic Counseling

Publication Date:
Updated:

Collection Editor(s):

Collection Editor(s)
Name & Degree
Melanie Myers, PhD, MS
Work Title/Institution
Professor, Division of Human Genetics, Department of Pediatrics, and Co-Director of Genetic Counseling Graduate Program, University of Cincinnati and Cincinnati Children's Hospital Medical Center
Name & Degree
Emily Wakefield, MS, CGC, LGC
Work Title/Institution
Licensed and Certified Genetic Counselor, Cincinnati Children's Hospital

Introduction

Targeted carrier screening began over 50 years ago with a focus on populations at increased risk for specific genetic conditions based on patient-reported racial, ethnic, or ancestral background. As genetic technologies have evolved, testing laboratories have begun offering expanded carrier screening (ECS) panels. Recently, the American College of Medical Genetics and Genomics (ACMG) recommended a universal approach to carrier screening for pregnant patients and those considering a pregnancy, due to the increased recognition that self-identified ancestry is imperfect. These guidelines utilize a tiered approach and recommend ECS screening for autosomal recessive and x-linked disorders with a carrier frequency of 1/200 or higher. Reproductive partners can be tested simultaneously or sequentially. 

A goal of ECS is enabling informed reproductive decision-making for a broader number of people by offering screening consistently and equitably to all patients. Those identified through expanded screening that have increased risk of producing a child with a genetic condition can choose not to have children, use a donor gamete/embryo, utilize invitro fertilization (IVF) and…

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Targeted carrier screening began over 50 years ago with a focus on populations at increased risk for specific genetic conditions based on patient-reported racial, ethnic, or ancestral background. As genetic technologies have evolved, testing laboratories have begun offering expanded carrier screening (ECS) panels. Recently, the American College of Medical Genetics and Genomics (ACMG) recommended a universal approach to carrier screening for pregnant patients and those considering a pregnancy, due to the increased recognition that self-identified ancestry is imperfect. These guidelines utilize a tiered approach and recommend ECS screening for autosomal recessive and x-linked disorders with a carrier frequency of 1/200 or higher. Reproductive partners can be tested simultaneously or sequentially. 

A goal of ECS is enabling informed reproductive decision-making for a broader number of people by offering screening consistently and equitably to all patients. Those identified through expanded screening that have increased risk of producing a child with a genetic condition can choose not to have children, use a donor gamete/embryo, utilize invitro fertilization (IVF) and prenatal genetic diagnosis (PGD) for monogenic conditions, adopt, or perform prenatal diagnostic testing via chorionic villus sampling (CVS) or amniocentesis. Some religious communities integrate carrier status in the match-making process. 

This collection of literature outlines some of the clinical and ethical considerations associated with ECS, including evolving variant interpretations, professional and patient understanding of carrier screening, the ability of the workforce to provide informed pre- and post-test counseling, and clinical utility. Though limited examples exist, literature regarding perceptions of ECS and whether it is equally acceptable, affordable, and accessible among different populations is also presented.

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Collection Header
Varied Perceptions of ECS
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Clinical challenges and ethical considerations
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Professional guidance documents
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Tags
expanded carrier screening
genetic counseling
genetic technologies
carrier screening