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

This study aims to better understand the utility of pharmacogenomic (PGx) testing for the rare disease, Prader-Willi syndrome (PWS).
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.
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.
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.
This study explored whether a type of genetic testing, pharmacogenomic (PGx) testing, was useful for those with a rare condition called Prader-Willi syndrome (PWS). Those with PWS underwent this testing to see if this could help with choosing medicines. Their caregivers completed a survey 1 month and 6 months after getting their results and some took part in interviews. Most caregivers found this testing helpful to learn what medicines their child might need in the future. Some caregivers said the testing gave them confidence about their child’s current medicines. Not many caregivers shared the results with their child’s doctors because nothing had happened to make them share the results or they thought the doctors might not use this information now. Overall, caregivers found this testing helpful, but many did not share this with their doctors.