# A Qualitative Study on Parental Experiences with Genetic Counseling After a Positive Newborn Screen for Recently Added Conditions on the Recommended Uniform Screening Panel (RUSP)

## TL;DR

This study explores how parents experience genetic counseling after their newborns tested positive for recently added conditions to the U.S. screening panel.

## Contribution

The study provides new insights into parental experiences with genetic counseling for recently added newborn screening conditions.

## Key findings

- Parents prefer early involvement of genetic counselors after a positive newborn screening result.
- Education about newborn screening and conditions is important to parents.
- Parents value holistic support beyond genetic resources.

## Abstract

The goal of newborn screening (NBS) has remained the same despite its significant expansion from its inception as a public health initiative. This goal is to identify infants that are at risk for a set list of conditions and to implement a care plan to prevent, delay, or mitigate adverse health outcomes for those affected. The role of genetic counselors (GCs) in the NBS space is currently evolving, and there is limited research on parental experiences with genetic counseling for more recently added conditions on a list approved by the U.S. Secretary of Health and Human Services called the Recommended Uniform Screening Panel (RUSP). This qualitative study interviewed parents who have spoken to a genetic counselor after their child was diagnosed with one of three following conditions in the past five years: Pompe disease, X-linked Adrenoleukodystrophy, and Spinal Muscular Atrophy. A total of 13 interviews were conducted and results were organized into five thematic areas: (1) NBS/Results Disclosure, (2) Diagnostic Process after NBS, (3) Treatment/Follow-Up, (4) Communication, and (5) Holistic Support. The findings of this study highlighted parental preferences for early involvement of genetic counselors, provider, and parent education on NBS, and the provision of family support beyond genetic resources.