Pharmacogenomics · 2026
Pharmacogenomic testing for Prader-Willi syndrome: a mixed methods analysis of caregiver experiences and utilization.
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Harris Anna Carpenter, Denton Jessica J, Bar-Peled Yael, Vrana-Diaz Caroline J, Strong Theresa V
Аннотация
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 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.
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 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.