Publications by authors named "M W Harr"
Background: The sport of rifle places unique physical demands on its athletes relative to other collegiate sports, including maintaining lumbar-straining positions for extended time. Anecdotal reports of low back pain (LBP) are common among collegiate rifle athletes, but the prevalence of LBP in this population has not yet been established in the literature.
Purpose: The purpose of this study was to survey collegiate rifle athletes to quantify the prevalence and impact of low back pain in this population and identify possible contributing factors including the COVID-19 pandemic.
Article Synopsis
- This study investigates secondary findings (SFs) from clinical next-generation sequencing in a large pediatric group, including many African-American participants, focusing on their types and frequencies.
- It uses specific criteria to identify pathogenic and likely pathogenic variants in established genes, assessing their potential health impacts on participants.
- The results reveal a total of 1464 pathogenic variants identified in over 16,700 participants, with notable frequencies in both ACMG and non-ACMG genes, such as TTR and CHEK2.
The differential performance of polygenic risk scores (PRSs) by group is one of the major ethical barriers to their clinical use. It is also one of the main practical challenges for any implementation effort. The social repercussions of how people are grouped in PRS research must be considered in communications with research participants, including return of results.
View Article and Find Full Text PDFPolygenic risk scores (PRSs) have improved in predictive performance, but several challenges remain to be addressed before PRSs can be implemented in the clinic, including reduced predictive performance of PRSs in diverse populations, and the interpretation and communication of genetic results to both providers and patients. To address these challenges, the National Human Genome Research Institute-funded Electronic Medical Records and Genomics (eMERGE) Network has developed a framework and pipeline for return of a PRS-based genome-informed risk assessment to 25,000 diverse adults and children as part of a clinical study. From an initial list of 23 conditions, ten were selected for implementation based on PRS performance, medical actionability and potential clinical utility, including cardiometabolic diseases and cancer.
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