Limitations in Achieving Glycemic Targets From CGM Data and Persistence of Severe Hypoglycemia in Adults With Type 1 Diabetes Regardless of Insulin Delivery Method.

Objective: We captured continuous glucose monitoring (CGM) metrics from a large online survey of adults with type 1 diabetes to determine how glycemic outcomes varied by insulin delivery form.

Research Design And Methods: Adults with type 1 diabetes from the T1D Exchange Registry/online communities completed the survey and contributed retrospective CGM data for up to 1 year. Self-reported glycemic outcomes and CGM measures were described overall and by insulin delivery method.

Insights into Knowledge and Attitudes About Autoantibody Screening from People Affected by Type 1 Diabetes: A Brief Report.

Introduction: Screening for islet-specific autoantibodies can identify individuals at risk for type 1 diabetes (T1D). Despite calls for increased nationwide autoantibody screening efforts, it is unclear how many individuals have participated in screening among people who may benefit from it. Moreover, knowledge and perceptions of autoantibody screening in real-world samples are not well understood.

The emotional burden of type 1 diabetes: A cross-sectional study to understand associations between diabetes distress and glucose metrics in adulthood.

Aims: Advancements in type 1 diabetes (T1D) management, such as continuous glucose monitoring (CGM), have helped people achieve narrower glucose ranges, but associations between CGM and diabetes distress are unclear. Although higher HbA is associated with higher distress, associations with other glucose metrics are unknown. To better understand this relationship, we characterized diabetes distress in a sample of CGM users and compared differences in glucose metrics (measured via CGM) between those with higher versus lower distress.

Severe Hypoglycemia and the Use of Glucagon Rescue Agents: An Observational Survey in Adults With Type 1 Diabetes.

Severe hypoglycemia (SH) is the most frequent and potentially serious complication affecting individuals with type 1 diabetes and can have major clinical and psychosocial consequences. Glucagon is the only approved treatment for SH that can be administered by non-health care professionals (HCPs); however, reports on the experiences and emotions of people with type 1 diabetes associated with SH and glucagon rescue use are limited. This survey study demonstrated that an increasing number of individuals with type 1 diabetes have current and filled prescriptions for glucagon and have been educated about glucagon rescue use by an HCP.

Emerging Adult and Caregiver Psychosocial Experiences with Severe Hypoglycemic Events and the Perceived Impact of Nasal Glucagon: A Cross-Sectional Study.

Introduction: Severe hypoglycemic events are distressing. Although past studies have shown that young adulthood is a potentially distressing time, few studies have explored distress about severe hypoglycemia in this age group. The real-world psychosocial experiences of potential severe hypoglycemic events and the perceived impact of glucagon treatments like nasal glucagon are currently unknown.

Emergency Glucagon: a Focused Review of Psychosocial Experiences of Rescue Drugs for Type 1 Diabetes.

Purpose Of Review: The purpose of this paper is to describe rescue glucagon types, safety, efficacy, and preferences, as well as to review articles regarding emergency glucagon usage, severe hypoglycemia, and the emotions of both phenomena. We conducted a review of current literature on glucagon usage and the emotional impact of severe hypoglycemia on people with diabetes (PwD) and the caregivers of people with type 1 diabetes (T1D).

Recent Findings: Minimal research exists pertaining to glucagon and severe hypoglycemic experiences in PwD, which is troubling considering the severity of risks and possible side effects.

Sensitive detection of multiple islet autoantibodies in type 1 diabetes using small sample volumes by agglutination-PCR.

Islet autoantibodies are predominantly measured by radioassay to facilitate risk assessment and diagnosis of type 1 diabetes. However, the reliance on radioactive components, large sample volumes and limited throughput renders radioassay testing costly and challenging. We developed a multiplex analysis platform based on antibody detection by agglutination-PCR (ADAP) for the sample-sparing measurement of GAD, IA-2 and insulin autoantibodies/antibodies in 1 μL serum.

Healthcare provider education to support integration of pharmacogenomics in practice: the eMERGE Network experience.

Ten organizations within the Electronic Medical Records and Genomics Network developed programs to implement pharmacogenomic sequencing and clinical decision support into clinical settings. Recognizing the importance of informed prescribers, a variety of strategies were used to incorporate provider education to support implementation. Education experiences with pharmacogenomics are described within the context of each organization's prior involvement, including the scope and scale of implementation specific to their Electronic Medical Records and Genomics projects.

Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.

There has been extensive debate about both the necessity of orthogonal confirmation of next-generation sequencing (NGS) results in Clinical Laboratory Improvement Amendments-approved laboratories and return of research NGS results to participants enrolled in research studies. In eMERGE-PGx, subjects underwent research NGS using PGRNseq and orthogonal targeted genotyping in clinical laboratories, which prompted a comparison of genotyping results between platforms. Concordance (percentage agreement) was reported for 4077 samples tested across nine combinations of research and clinical laboratories.

Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.

Objectives: To understand opinions and perceptions on the state of information resources specifically targeted to genomics, and approaches to delivery in clinical practice.

Methods: We conducted a survey of genomic content use and its clinical delivery from representatives across eight institutions in the electronic Medical Records and Genomics (eMERGE) network and two institutions in the Clinical Sequencing Exploratory Research (CSER) consortium in 2014.

Results: Eleven responses representing distinct projects across ten sites showed heterogeneity in how content is being delivered, with provider-facing content primarily delivered via the electronic health record (EHR) (n=10), and paper/pamphlets as the leading mode for patient-facing content (n=9).

Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility.

Objective: This paper outlines the implementation of a comprehensive clinical pharmacogenomics (PGx) service within a pediatric teaching hospital and the integration of clinical decision support in the electronic health record (EHR).

Materials And Methods: An approach to clinical decision support for medication ordering and dispensing driven by documented PGx variant status in an EHR is described. A web-based platform was created to automatically generate a clinical report from either raw assay results or specified diplotypes, able to parse and combine haplotypes into an interpretation for each individual and compared to the reference lab call for accuracy.

Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.

Purpose: Cataract is the leading cause of blindness in the world, and in the United States accounts for approximately 60% of Medicare costs related to vision. The purpose of this study was to identify genetic markers for age-related cataract through a genome-wide association study (GWAS).

Methods: In the electronic medical records and genomics (eMERGE) network, we ran an electronic phenotyping algorithm on individuals in each of five sites with electronic medical records linked to DNA biobanks.

Return of genomic results to research participants: the floor, the ceiling, and the choices in between.

As more research studies incorporate next-generation sequencing (including whole-genome or whole-exome sequencing), investigators and institutional review boards face difficult questions regarding which genomic results to return to research participants and how. An American College of Medical Genetics and Genomics 2013 policy paper suggesting that pathogenic mutations in 56 specified genes should be returned in the clinical setting has raised the question of whether comparable recommendations should be considered in research settings. The Clinical Sequencing Exploratory Research (CSER) Consortium and the Electronic Medical Records and Genomics (eMERGE) Network are multisite research programs that aim to develop practical strategies for addressing questions concerning the return of results in genomic research.

Admixture mapping and subsequent fine-mapping suggests a biologically relevant and novel association on chromosome 11 for type 2 diabetes in African Americans.

Type 2 diabetes (T2D) is a complex metabolic disease that disproportionately affects African Americans. Genome-wide association studies (GWAS) have identified several loci that contribute to T2D in European Americans, but few studies have been performed in admixed populations. We first performed a GWAS of 1,563 African Americans from the Vanderbilt Genome-Electronic Records Project and Northwestern University NUgene Project as part of the electronic Medical Records and Genomics (eMERGE) network.

Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.

Electrocardiographic (ECG) measurements vary by ancestry. Genome-wide association studies (GWAS) have identified loci that contribute to ECG measurements; however, most are performed in Europeans collected from population-based cohorts or surveys. The strongest associations reported are in NOS1AP with QT interval and SCN10A with PR and QRS durations.

Managing incidental findings and research results in genomic research involving biobanks and archived data sets.

Biobanks and archived data sets collecting samples and data have become crucial engines of genetic and genomic research. Unresolved, however, is what responsibilities biobanks should shoulder to manage incidental findings and individual research results of potential health, reproductive, or personal importance to individual contributors (using "biobank" here to refer both to collections of samples and collections of data). This article reports recommendations from a 2-year project funded by the National Institutes of Health.

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.

Purpose: Return of individual genetic results to research participants, including participants in archives and biorepositories, is receiving increased attention. However, few groups have deliberated on specific results or weighed deliberations against relevant local contextual factors.

Methods: The Electronic Medical Records and Genomics (eMERGE) Network, which includes five biorepositories conducting genome-wide association studies, convened a return of results oversight committee to identify potentially returnable results.

Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study.

Objective: Genome-wide association studies (GWAS) require high specificity and large numbers of subjects to identify genotype-phenotype correlations accurately. The aim of this study was to identify type 2 diabetes (T2D) cases and controls for a GWAS, using data captured through routine clinical care across five institutions using different electronic medical record (EMR) systems.

Materials And Methods: An algorithm was developed to identify T2D cases and controls based on a combination of diagnoses, medications, and laboratory results.

Ethical and practical challenges of sharing data from genome-wide association studies: the eMERGE Consortium experience.

In 2007, the National Human Genome Research Institute (NHGRI) established the Electronic MEdical Records and GEnomics (eMERGE) Consortium (www.gwas.net) to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research.

The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies.

Introduction: The eMERGE (electronic MEdical Records and GEnomics) Network is an NHGRI-supported consortium of five institutions to explore the utility of DNA repositories coupled to Electronic Medical Record (EMR) systems for advancing discovery in genome science. eMERGE also includes a special emphasis on the ethical, legal and social issues related to these endeavors.

Organization: The five sites are supported by an Administrative Coordinating Center.