https://orcid.org/0000-0002-4904-5571
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Abstract
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.
Supplementary data
To view the supplementary data that accompany this paper please visit the journal website at: www.tandfonline.com/doi/suppl/10.2217/pgs-2023-0189
Author contributions
TV Strong and EA Worthey were responsible for the conception of the pharmacogenomics (PGx) in Prader-Willi syndrome research idea. TV Strong was responsible for the conception of this specific utilization and attitudes study. Y Bar-Peled, JJ Denton, JL Richards and TV Strong contributed substantially to the design of this study. DM Brown and EA Worthey were responsible for selection of PGx methodology. Y Bar-Peled was solely responsible for data collation, data analysis, and drafting and revision of the original manuscript. All authors were involved with the revision and editing of the manuscript. The authors are listed in order of lead and senior author, based on their contributions with the principal investigators listed in the last position.
Acknowledgments
The authors would like to thank the Genomics Community Board for their meaningful insights and the families who participated in this study. The authors would also like to thank the research team members of the Foundation for Prader-Willi Research and Global PWS Registry, Caroline Vrana-Diaz, Lisa Matesevac, and Jessica Bohonowych for caregiver recruitment, pharmacogenomics (PGx) report insights, and survey creation on SurveyMonkey® and data collection, and Brandon M Wilk for sequencing and analysis. In addition, the authors would like to thank Jennifer Eichmeyer for her valuable contribution to the PGx report design and Ashley Cannon for her continual helpful feedback throughout the study. The research presented in this paper was conducted while the first author was in training for a MS in Genetic Counseling at the University of Alabama at Birmingham, where the last author was a faculty member and served as the research advisor.
Financial disclosure
The authors have no financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
Competing interests disclosure
The authors have no competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
Writing disclosure
No writing assistance was utilized in the production of this manuscript.
Ethical conduct of research
The authors state that they have obtained institutional review board approval from North Star Review Board for the research described. In addition, they have obtained verbal and written informed consent from the participants for the inclusion of their family member with PWS’ medical and treatment history within this work.
Open access
This work is licensed under the Attribution-NonCommercial-NoDerivatives 4.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/