Tag: personalized medicine

CGDS Publishes Study on Genetic Factors Influencing Vitamin D Status in Cystic Fibrosis

CGDS researchers and collaborators have published new findings on the genetic basis of vitamin D variability in adults with cystic fibrosis (CF). The study analyzed 25-hydroxyvitamin D (25OHD) levels alongside whole genome sequencing data from 80 adults to investigate why some patients remain vitamin D insufficient despite consistent supplementation.

Results showed that 30% of participants had 25OHD concentrations below the 30 ng/mL threshold, despite normal vitamin E levels. Polygenic risk scores (PRS) were significantly correlated with 25OHD status, indicating that common genetic variants contribute to differences in response to vitamin D therapy. These findings align with prior results in children and support a more personalized approach to supplementation in CF care.

Read the full study in Journal of Cystic Fibrosis: Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis.

CGDS Publishes on Caregiver Perspectives in Prader-Willi Syndrome Pharmacogenomics

Researchers at CGDS, in collaboration with FPWR, have published a study exploring caregiver interest in pharmacogenomic (PGx) testing for children with Prader-Willi syndrome (PWS). The study surveyed caregivers before returning PGx results, aiming to understand their expectations and planned use of this information in clinical care.

Among the 48 caregivers surveyed, 93.8% expressed strong interest in their child’s PGx results. Nearly all respondents (97.9%) intended to share the findings with medical providers, yet fewer than half (47.9%) felt confident that those providers would use the results. The findings highlight the enthusiasm among caregivers and the perceived gap in provider readiness to act on PGx data, signaling a need for increased education and support around clinical implementation.

Read the full study in Pharmacogenomics: Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization.