Pharmacogenomic testing for Prader-Willi syndrome: a mixed methods analysis of caregiver experiences and utilization.

ABSTRACT:

Aim

This study aims to better understand the utility of pharmacogenomic (PGx) testing for the rare disease, Prader-Willi syndrome (PWS).

Methods

Individuals with PWS received PGx testing, and their caregivers were surveyed 1 month after receiving results (n = 42) and 6-months after receiving results (n = 38). A subset of respondents (n = 9) also participated in qualitative interviews.

Results

After receiving the PGx results, only one caregiver participant (2.27%) reported making medication changes. Eighty percent of caregiver participants stated the most valuable aspect of the PGx results was the information it provided about future medications their child may need. Interview participants discussed how the report gave them reassurance or verificat

SUBMITTER: Harris AC 

PROVIDER: S-EPMC12915763 | biostudies-literature | 2025 Dec-Dec

REPOSITORIES: biostudies-literature