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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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Age-Based Genomic Screening: Pediatric Providers' Perspectives on Implementation.

Margaret Waltz¹, Ann Katherine M Foreman², Rebecca A Gibson³

¹Center for Bioethics and Department of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Public Health Genomics

|April 21, 2025

Summary

This summary is machine-generated.

Age-Based Genomic Screening (ABGS) is feasible but requires careful implementation. Key barriers include provider comfort, patient anxiety, and potential health disparities, necessitating further piloting.

Keywords:

Actionable conditions Age Genetic screening Interviews Pediatrics

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Area of Science:

Genomic Medicine
Pediatric Primary Care
Preventive Health

Background:

Genomic technologies and decreasing sequencing costs are expanding pediatric screening possibilities.
Age-Based Genomic Screening (ABGS) proposes integrating targeted genomic sequencing into routine well-child visits.
Investigating adoption factors is crucial before widespread clinical implementation of ABGS.

Purpose of the Study:

To explore provider perspectives on the feasibility and barriers to implementing Age-Based Genomic Screening in pediatric primary care.

Main Methods:

Conducted 20 semi-structured interviews with healthcare providers across 11 clinics.
Utilized rapid qualitative analysis with an analytic matrix to interpret interview data.

Main Results:

Providers found ABGS generally feasible but cited concerns about discussing genomic results and potential health disparities.
Barriers included provider discomfort, patient/caregiver anxiety, apprehension about sample collection, and mistrust in institutions.

Conclusions:

ABGS is feasible but requires piloting to address identified barriers, especially concerning health disparities.
Findings can guide the development and assessment of ABGS and similar genomic screening initiatives in primary care.