Evidence mapPaperPMID 41542906Full record

ArticlePharmacogenomics

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

Anna Carpenter Harris, Jessica J Denton, Yael Bar-Peled, Caroline J Vrana-Diaz, Theresa V Strong

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Article in Pharmacogenomics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Anna Carpenter HarrisDepartment of Clinical Diagnostic Sciences, University of Alabama, Birmingham, AL, USA.ORCID 0009-0000-7255-131X
Jessica J DentonDepartment of Clinical Diagnostic Sciences, University of Alabama, Birmingham, AL, USA.ORCID 0000-0002-4229-839X
Yael Bar-PeledDepartment of Clinical Diagnostic Sciences, University of Alabama, Birmingham, AL, USA.ORCID 0000-0002-4904-5571
Caroline J Vrana-DiazFoundation for Prader-Willi Research, Covina, CA, USA.ORCID 0000-0001-9037-2761
Theresa V StrongFoundation for Prader-Willi Research, Covina, CA, USA.ORCID 0000-0001-6783-8703

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimThis study aims to better understand the utility of pharmacogenomic (PGx) testing for the rare disease, Prader-Willi syndrome (PWS).

methodsIndividuals with PWS received PGx testing, and their caregivers were surveyed 1 month after receiving results (

resultsAfter 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.

conclusionPGx results are perceived as valuable to the PWS population, but sharing PGx results with healthcare providers was limited at the six-month time point.

Indexed as

CaregiversPharmacogenomic TestingPrader-Willi SyndromeAdolescentAdultChildChild, PreschoolFemaleHumansMaleSurveys and Questionnairescaregiverhealthcare providersmixed methodspersonalized medicinePharmacogenomicsPrader-Willi syndromequalitative interviews

Identifiers

PMID41542906
PMCPMC12915763

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LicenceCC BY-NC-ND
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.