What is it about?

We contribute to the discussion of expanding newborn screening by gaining diverse parent perspectives on the implications of early pre-symptomatic diagnoses. This semi-structured interview study sought to understand the views and preferences of English and Spanish-speaking parents who have given birth in the past five years. Participants expressed interest in expanding newborn screening but had varying thoughts on the types of conditions that should be included. Parents noted both personal and medical utility for newborn screening results and described strong interest in further education about the process and potential results. Parents discuss the importance of choice as more complex results can occur. Clinicians, genetic counselors, and newborn screening advocates benefit by understanding the importance of parental perspective for successful utilization of expanded newborn screening in pilot studies and future policy.

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Why is it important?

We contribute to the discussion of expanding newborn screening by gaining diverse parent perspectives on the implications of early pre-symptomatic diagnoses. Clinicians, genetic counselors, and newborn screening advocates benefit by understanding the importance of parental perspective for successful utilization of expanded newborn screening in pilot studies and future policy.

Perspectives

This study focuses on the perspectives of parents who are often under-represented in research into the conversation regarding expanding newborn screening through genomic sequencing.

George Timmins
Pardee RAND Graduate School

Read the Original

This page is a summary of: Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing, Public Health Genomics, September 2022, Karger Publishers, DOI: 10.1159/000526382.
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