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Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization.

Yael Bar-PeledJessica J DentonJaimie L RichardsDonna BrownElizabeth A WortheyTheresa V Strong
Published in: Pharmacogenomics (2024)
Aim: The study aim was to determine caregiver interest and planned utilization of pharmacogenomic (PGx) results for their child with Prader-Willi syndrome. Methods: Caregivers consented to PGx testing for their child and completed a survey before receiving results. Results: Of all caregivers (n = 48), 93.8% were highly interested in their child's upcoming PGx results. Most (97.9%) planned to share results with their child's medical providers. However, only 47.9% of caregivers were confident providers would utilize the PGx results. Conclusion: Caregivers are interested in utilizing PGx but are uncertain providers will use these results in their child's care. More information about provider comfort with PGx utilization is needed to understand how PGx education would benefit providers and ultimately patients with PGx results.
Keyphrases
  • palliative care
  • mental health
  • healthcare
  • growth hormone
  • primary care
  • quality improvement
  • case report
  • emergency department
  • adverse drug