Fathers' and Mothers' support needs and support experiences after rapid genome sequencing

Area of Science:

• Genomic Medicine
• Paediatric Health
• Family Support Services

Background:

• Rapid genomic sequencing (rGS) is increasingly used in paediatric medicine for severe early-onset conditions.
• Understanding family support needs post-rGS is crucial for effective care.
• Existing research often focuses on immediate outcomes, not long-term family impact.

Purpose of the Study:

• To examine the long-term experiences and support needs of parents whose children received trio rGS.
• To assess parental well-being, life satisfaction, and family impact one to five years after rGS.
• To identify gaps in formal and informal support systems for these families.

Main Methods:

• Mixed methods study (Peregrin*) involving 96 parents 1-5 years post-trio rGS.
• Quantitative measures: parental well-being, life satisfaction, family impact (compared to population norms, mothers vs. fathers, diagnostic outcome).
• Qualitative semi-structured interviews: satisfaction with support, network engagement, unmet needs.

Main Results:

• Mothers reported higher anxiety and depression than population norms; within-couple well-being metrics showed weak correlation.
• Parents of children with a genomic diagnosis had poorer well-being, linked to medical complexity.
• 36% of families with a genomic diagnosis reported insufficient support, versus 6% without; fathers accessed support less frequently.

Conclusions:

• Families navigating severe childhood conditions and rGS face persistent, evolving support needs.
• Parental support requirements are individual, changing with time and the child's health trajectory.
• Significant gaps exist between identified parental needs and available support, affecting family well-being.