A Qualitative Study on Parental Experiences with Genetic Counseling After a Positive Newborn Screen for Recently...

Area of Science:

• Genetics
• Public Health
• Pediatrics

Background:

• Newborn screening (NBS) identifies infants at risk for serious health conditions.
• The Recommended Uniform Screening Panel (RUSP) has expanded, necessitating updated genetic counseling approaches.
• Limited research exists on parental experiences with genetic counseling for newer NBS conditions.

Purpose of the Study:

• To explore parental experiences with genetic counseling after a child's diagnosis with Pompe disease, X-linked Adrenoleukodystrophy, or Spinal Muscular Atrophy.
• To understand parental preferences regarding genetic counseling within the evolving landscape of newborn screening.
• To identify areas for improvement in genetic counseling services for families affected by NBS-diagnosed conditions.

Main Methods:

• Qualitative study utilizing 13 semi-structured interviews with parents.
• Interviews focused on experiences following a child's diagnosis with specific NBS conditions (Pompe disease, X-linked Adrenoleukodystrophy, Spinal Muscular Atrophy) within the last five years.
• Thematic analysis of interview data organized into five key areas: NBS/Results Disclosure, Diagnostic Process, Treatment/Follow-Up, Communication, and Holistic Support.

Main Results:

• Parents prefer earlier integration of genetic counselors into the NBS process.
• There is a strong need for enhanced education for both healthcare providers and parents regarding NBS and genetic counseling.
• Families value comprehensive support that extends beyond genetic information to include broader psychosocial and practical resources.

Conclusions:

• Genetic counselors play a vital, evolving role in newborn screening.
• Optimizing the parental experience requires proactive genetic counseling, improved communication, and holistic family support.
• Future NBS programs should prioritize early genetic counselor involvement and integrated family support systems.