Article

Genetic-Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-Based Medical Guidelines

2019-12-27

Abstract excerpt

<h4>Purpose</h4> Despite strong association between genetic ancestry and carrier status, current carrier-screening guidelines recommend testing for a limited set of conditions based on a patient’s self-reported ethnicity, which conflates genetic and cultural factors. <h4>Materials and Methods</h4> For 93,419 individuals undergoing a 96-gene expanded carrier screen (ECS), correspondence was assessed among carrier s...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4297903d-b599-54f2-b169-06f27970448d
DOI: 10.1101/2019.12.21.19015578

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic-Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-Based Medical GuidelinesDOI 10.1101/2019.12.21.19015578Read

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelinesSemantic proximity Read

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screeningSemantic proximity Read

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening.Semantic proximity Read

Real-world genetic screening with molecular ancestry supports comprehensive pan-ethnic carrier screeningSemantic proximity Read

Ethnicity-Based Carrier ScreeningSemantic proximity Read

Expanded carrier screening for reproductive risk assessment: An evidence‐based practice guideline from the National Society of Genetic CounselorsSemantic proximity Read

Documented clinical genetic testing among carriers of hereditary breast and ovarian cancer variants: Ancestry and socioeconomic disparities in the All of Us research programSemantic proximity Read

The Evolving Landscape of Genetic Carrier Screening: Clinical Considerations and ChallengesSemantic proximity Read

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.Semantic proximity Read

Integrating Genetic Ancestry into Clinical Care: Accuracy, Utility, and Stakeholder ViewsSemantic proximity Read

Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities.Semantic proximity Read

Finding Middle Ground in Constructing a Clinically Useful Expanded Carrier Screening PanelSemantic proximity Read