Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine

EFFECTS OF FAT FREE MASS LOSS ON SYSTOLIC BLOOD PRESSURE IN DIVISION 1 COLLEGIATE ATHLETES

BACKGROUND: In relation to blood pressure (BP), moderate to vigorous load intensity resistance training has been shown to maintain or increase Fat Free Mass (FFM) and decrease BP. In addition, some research suggests an inverse relationship between FFM and BP. Recent research suggests that athletes may fail to reach their recommended daily calorie intake could contribute to FFM loss. However, it is less understood how FFM loss affects systolic blood pressure and hypertension risk within the African American (AAm) collegiate football players . Purpose: The purpose of this study is to investigate the relationship between FFM loss and systolic BP in AAm Division 1 football players. METHODS: Seventy male football players were tested: Age: 20.3±1.5yrs, HT: 184.1±8.7cm, BM:104.3±1.5kg, BF%:18.3±1.1%, FFM:84.6±0.4kg). Height was measured using a standing stadiometer while resting BP was assessed following a ≥5 minute resting period using an automated sphygmomanometer cuff. High BP was defined as (\u3e120 - \u3c130 mmHg Systolic BP and \u3c80 mmHg Diastolic BP) according to AHA guidelines, prior to weight and body composition assessment. Statistical analysis included spearman’s correlations and paired sample t tests were used to determine the relationship between FFM loss and SBP over the preparatory period. RESULTS: Our analysis indicated a significant difference in FFM (-1.9±3.6kg,p \u3c 0.01 ) over the time period, and a difference of (0.6± 4.1kg, p \u3c 0.01 ) of body mass was lost during the same time period. During preparatory, a moderate relationship (r=0.45, p\u3c0.0) was observed between SBP and FFM loss. 27/57 (47%) athletes were hypertensive in preparatory whereas 30/57 (53%) were hypertensive in the competitive season despite no significance (p \u3e 0.05). During the competitive season, a nonsignificant, weak, positive correlation (p = 0.09, r = 0.24) existed between FFM and Systolic BP. 19/57 (33%) athletes experienced BP increase after preseason. CONCLUSION: Despite the negative weak relationship between FFM loss and high SBP observed (r=-0.05, p=0.75) between the two time points, there was a 6% increase in athletes with hypertension. Although there was a weak correlation between high BP and FFM loss over the two testing periods, there were still multiple athletes who were affected by weight fluctuations and high BP