Estimation of population-specific values of theta for PowerPlex Y23 profiles.

We examine 31,011 PPY23 profiles at the population, metapopulation and world levels. Most haplotypes appear only once but a few have higher counts, including a set of 23 matching profiles in Delhi, India and a set of 16 matching profiles in Burkina Faso with one additional matching American African profile. We estimate Fvalues to be used as "theta" (θ) in match probability calculations, following the method we used in our earlier survey of autosomal STR data.

Unmanaged Pharmacogenomic and Drug Interaction Risk Associations with Hospital Length of Stay among Medicare Advantage Members with COVID-19: A Retrospective Cohort Study.

Unmanaged pharmacogenomic and drug interaction risk can lengthen hospitalization and may have influenced the severe health outcomes seen in some COVID-19 patients. To determine if unmanaged pharmacogenomic and drug interaction risks were associated with longer lengths of stay (LOS) among patients hospitalized with COVID-19, we retrospectively reviewed medical and pharmacy claims from 6025 Medicare Advantage members hospitalized with COVID-19. Patients with a moderate or high pharmacogenetic interaction probability (PIP), which indicates the likelihood that testing would identify one or more clinically actionable gene-drug or gene-drug-drug interactions, were hospitalized for 9% (CI: 4-15%; < 0.

Combinatorial Analysis of Phenotypic and Clinical Risk Factors Associated With Hospitalized COVID-19 Patients.

Characterization of the risk factors associated with variability in the clinical outcomes of COVID-19 is important. Our previous study using genomic data identified a potential role of calcium and lipid homeostasis in severe COVID-19. This study aimed to identify similar combinations of features (disease signatures) associated with severe disease in a separate patient population with purely clinical and phenotypic data.

Determining Cost-Optimal Next-Generation Sequencing Panels for Rare Disease and Pharmacogenomics Testing.

Background: Multi-gene panel sequencing using next-generation sequencing (NGS) methods is a key tool for genomic medicine. However, with an estimated 140 000 genomic tests available, current system inefficiencies result in high genetic-testing costs. Reduced testing costs are needed to expand the availability of genomic medicine.

Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling.

Resting-state white blood cell (WBC) count is a marker of inflammation and immune system health. There is evidence that WBC count is not fixed over time and there is heterogeneity in WBC trajectory that is associated with morbidity and mortality. Latent class mixed modeling (LCMM) is a method that can identify unobserved heterogeneity in longitudinal data and attempts to classify individuals into groups based on a linear model of repeated measurements.

The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.

The Electronic Medical Records and Genomics (eMERGE) network is a network of medical centers with electronic medical records linked to existing biorepository samples for genomic discovery and genomic medicine research. The network sought to unify the genetic results from 78 Illumina and Affymetrix genotype array batches from 12 contributing medical centers for joint association analysis of 83,717 human participants. In this report, we describe the imputation of eMERGE results and methods to create the unified imputed merged set of genome-wide variant genotype data.

Risk prediction for complex diseases: application to Parkinson disease.

Purpose: The aim of this study was to evaluate the risk of Parkinson disease using clinical and demographic data alone and when combined with information from genes associated with Parkinson disease.

Methods: A total of 1,967 participants in the dbGAP NeuroGenetics Research Consortium data set were included. Single-nucleotide polymorphisms associated with Parkinson disease at a genome-wide significance level in previous genome-wide association studies were included in risk prediction.

Awareness and uptake of direct-to-consumer genetic testing among cancer cases, their relatives, and controls: the Northwest Cancer Genetics Network.

Aims: To determine if awareness of, interest in, and use of direct-to-consumer (DTC) genetic testing is greater in a sample of high-risk individuals (cancer cases and their relatives), compared to controls.

Methods: Participants were recruited from the Northwest Cancer Genetics Network. A follow-up survey was mailed to participants to assess DTC genetic testing awareness, interest, and use.

Capacity of diabetes education programs to provide both diabetes self-management education and to implement diabetes prevention services.

Objective: The purpose of this study was to assess the capacity of diabetes self-management education (DSME) programs in urban and rural counties to provide services to patients with diagnosed diabetes, lifestyle services to persons at high risk for developing diabetes, and to assess the potential barriers to providing diabetes prevention services.

Methods: In 2009, the Montana Department of Public Health and Human Services conducted an Internet-based survey of all DSME programs in Montana.

Results: Thirty of the 39 (77%) DSME programs completed the survey.

Factors associated with achieving a weight loss goal among participants in an adapted Diabetes Prevention Program.

Aims: To assess the factors associated with achieving the 7% weight loss goal among participants enrolled in an adapted Diabetes Prevention Program (DPP).

Methods: Adults at high-risk (N=989) for CVD and diabetes were enrolled in the lifestyle intervention. Multiple logistic regression analyses were used to identify factors associated with achieving the weight loss goal.

Factors associated with the maintenance or achievement of the weight loss goal at follow-up among participants completing an adapted diabetes prevention program.

Aims: This study evaluated factors associated with achievement or maintenance of a 7% weight loss goal post intervention among adults at high-risk for cardiovascular disease (CVD) and diabetes who participated in an adapted Diabetes Prevention Program (DPP) intervention.

Materials And Methods: High-risk adults completed the intervention in 2008 or 2009 (N=466). In 2010, we conducted a follow-up survey of participants to assess characteristics, behaviors and barriers associated with the maintenance or achievement of the weight loss goal.

Implementing a state-based cardiovascular disease and diabetes prevention program.

Objective: To evaluate weight loss and cardiometabolic risk reduction achieved through an adapted Diabetes Prevention Program intervention among adults at high risk for cardiovascular disease (CVD) and diabetes.

Research Design And Methods: Eight health care facilities implemented a group-based lifestyle intervention beginning in 2008. Participants attended 16 weekly core sessions followed by 6 monthly after core sessions.

Effectiveness of a lifestyle intervention program among persons at high risk for cardiovascular disease and diabetes in a rural community.

Purpose: To evaluate the feasibility of translating the Diabetes Prevention Program (DPP) lifestyle intervention into practice in a rural community.

Methods: In 2008, the Montana Diabetes Control Program worked collaboratively with Holy Rosary Healthcare to implement an adapted group-based DPP lifestyle intervention. Adults at high risk for diabetes and cardiovascular disease were recruited and enrolled (N = 101).

Adapted diabetes prevention program lifestyle intervention can be effectively delivered through telehealth.

Purpose: The purpose of this study was to assess the feasibility of delivering an adapted group-based version of the Diabetes Prevention Program's (DPP) lifestyle intervention through telehealth video conferencing.

Methods: In 2009, the Montana Department of Public Health and Human Services in collaboration with Holy Rosary Heathcare implemented the DPP lifestyle intervention, which was provided to an on-site group in 1 community and simultaneously through telehealth to a second group in a remote frontier community. Participants obtained medical clearance from their primary care physician and were eligible if they were overweight and had 1 or more of the following risk factors: prediabetes, impaired glucose tolerance/impaired fasting glucose (IGT/IFG), a history of gestational diabetes (GDM) or the delivery of an infant >9 pounds, hypertension, or dyslipidemia.

Translating the diabetes prevention program into practice in the general community: findings from the Montana Cardiovascular Disease and Diabetes Prevention Program.

Purpose: The purpose of this study was to evaluate the feasibility of translating the Diabetes Prevention Program (DPP) lifestyle intervention into practice in the general community.

Methods: In 2008, the Montana Diabetes Control Program, working collaboratively with 4 health care facilities, implemented an adapted group-based DPP lifestyle intervention. Adults at high risk for diabetes and cardiovascular disease were recruited and enrolled (n = 355).