Clinical Trials Logo

Clinical Trial Summary

The field of pharmacogenomics has progressed from the discovery of genetic variants that cause variable function of drug metabolism enzymes to a cornerstone of clinical precision medicine. However, there are limited data supporting drug-gene associations for children and for women during and after pregnancy. The unique physiology of childhood and pregnancy demand validation of pharmacogenomic signals prior to clinical implementation. These knowledge gaps are compounded for individuals from minority populations, who have been underrepresented and thus underserved by genomic research and specifically pharmacogenomic studies. The primary objective of this project is to advance research and support clinical implementation in pharmacogenomics for children and pregnant women. This work will use a community engaged approach to illuminate knowledge of, attitudes about, and priorities for pharmacogenomics. The investigators will assess the knowledge and attitudes regarding pharmacogenomic testing among diverse cohorts of children with chronic disease and pregnant women, before and after receiving pharmacogenomic test results. This aim will begin with a Community Engagement Studio to identify strategies to facilitate and enhance inclusion of children with chronic health conditions, pregnant women, minorities, and those with disabilities in pharmacogenomic research. The investigators will then perform surveys before and after pharmacogenomic testing and return of results.

Clinical Trial Description

This study will follow a single-arm unblinded research design. Study inclusion criteria include ability to provide a DNA sample for pharmacogenomic (PGx) testing and willingness to receive the test results. Thus, all participants will have PGx testing, which the investigators define as the intervention for this study. Participants will complete a survey at study baseline, which will collect demographic information (age, race/ethnicity), contact and alternative contact information, primary care physician information, socioeconomic details (e.g. insurance information, education, occupation, marital status, and income) health data (e.g. chronic conditions, personal and family history of genetic diseases) and lifestyle data (e.g. smoking, drinking, and physical activity). Parents will complete enrollment surveys on behalf of children. Basic health and pregnancy history will also be collected for pregnant women. The survey regarding information and knowledge on PGx testing will be administered at enrollment and again after return of PGx results. The investigators will include additional questions in the follow-up survey specific to educational materials provided after testing. The survey will capture the following core domains: 1) experience with medications/side effects; 2) understanding of genetics and PGx; 3) impact of PGx with relationships with healthcare professionals; 4) scenarios involving PGx-guided prescribing; 5) responses to PGx educational materials; 6) perceptions of the utility of PGx information. Questions specific to perceptions and knowledge will be scored on a 5-point scale (e.g. 'very important' to 'not at all important'; 'very likely' to 'not likely'). The investigators are recruiting 250 women and 250 children with the goal of a final cohort of 200 for each group for statistical analyses, thus allowing up to 20% drop out rate. The investigators will use multivariate logistic or ordinal regression to determine the associations between survey responses and demographic, clinical, and test result variables. ;

Study Design

Related Conditions & MeSH terms

NCT number NCT05037305
Study type Interventional
Source Vanderbilt University Medical Center
Status Not yet recruiting
Phase N/A
Start date October 2021
Completion date September 30, 2022