Pharmacogenomic testing for Prader-Willi syndrome: a mixed methods analysis of caregiver experiences and utilization
Year: 2025
Type: article
Study design: Observational Study
Abstract: AIM: This study aims to better understand the utility of pharmacogenomic (PGx) testing for the rare disease, Prader-Willi syndrome (PWS). METHODS: = 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 verification of their current medication regimen. Only 36.59% of caregiver participants shared PGx results with their child's healthcare providers during the six-month follow-up period. Interview participants described reasons for not sharing the PGx report, including that nothing in the report prompted them to do so, or that they believed providers would not use it. CONCLUSION: PGx results are perceived as valuable to the PWS population, but sharing PGx results with healthcare providers was limited at the six-month time point.
Source: Pharmacogenomics
Language: English
Subfield: Pharmacology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7124421984