The Helix Research Network program is a large population genomics initiative that screens an all-comers population of patients for Centers for Disease Control and Prevention Tier 1 genetic conditions, Show more
The Helix Research Network program is a large population genomics initiative that screens an all-comers population of patients for Centers for Disease Control and Prevention Tier 1 genetic conditions, including familial hypercholesterolemia (FH). We evaluated changes in clinical management and low-density lipoprotein cholesterol (LDL-C) levels among patients we identified to have FH. Participants across 9 US health systems provided samples that underwent clinical-grade exome sequencing. Individuals with a positive screening result for a Tier 1 condition were offered no-cost genetic counseling through their health system. Using medication and laboratory testing records, we evaluated changes in patients' lipid-lowering therapies and LDL-C levels. Among 228 602 adults enrolled between 2017 to 2025, 1155 (≈1/198) had a pathogenic FH variant in Following genetic screening, many patients with a pathogenic FH variant experienced improvements in clinical management and LDL-C levels. Electronic health record documentation of the diagnosis code was associated with a greater likelihood of therapeutic modifications, which, in turn, were associated with larger LDL-C reductions. Findings underscore the powerful potential of population genomic screening for supporting optimal lipid management in individuals with FH. Show less
The purpose of this population-based study was to examine whether sedentary behavior (SB) and light physical activity intensity (LPA) are associated with pain in older adults. A further aim is to inve Show more
The purpose of this population-based study was to examine whether sedentary behavior (SB) and light physical activity intensity (LPA) are associated with pain in older adults. A further aim is to investigate the psychosomatic complaints as mediators between SB and pain. Individuals aged ≥50 from the 2018 Study on Aging, Health, and Health-seeking Behavior reported on SB and LPA using the International Physical Activity Questionnaire and pain severity using a cross-culturally validated item from the bodily pain subscale of the MOS SF-36. Multivariable logistic regression models evaluated the associations of SB and LPA with pain. Bootstrapping analyses assessed whether psychosomatic complaints mediate the association between SB and pain. Among 1201 participants (mean ± SD age = 66.1 ± 11.9 years; women = 63.3%), the prevalence of SB and pain was 21.4% and 43.0%, respectively. Compared with <8 h/d, ≥8 h/d of SB was positively associated with pain (OR = 2.42, 95% CI = 1.71-3.42). However, LPA was associated with 11% lower odds of reporting pain (OR = 0.89, 95% CI = 0.81-0.98). Self-rated health (41.2%), anxiety (23.5%), comorbidity (20.6%), functional limitations (17.6%), depression (13.2%), and sleep problems (11.8%) were associated with pain and mediated the SB-pain link. The present study observed that SB and LPA were associated with pain in older adults residing in Ghana, and psychosomatic complaints were identified as potential mechanisms in the pathway between SB and pain. Managing the pain burden in old age may require shifting the 24-hour behavior from SB to LPA and addressing the inherent psychosomatic complaints. Show less