Designing and implementing sample and data collection for an international genetics study: the Type 1 Diabetes Genetics Consortium (T1DGC)

Abstract

Background and Purpose The Type 1 Diabetes Genetics Consortium (T1DGC) is an international project whose primary aims are to: (a) discover genes that modify type 1 diabetes risk; and (b) expand upon the existing genetic resources for type 1 diabetes research. The initial goal was to collect 2500 affected sibling pair (ASP) families worldwide.Methods T1DGC was organized into four regional networks (Asia-Pacific, Europe, North America, and the United Kingdom) and a Coordinating Center. A Steering Committee, with representatives from each network, the Coordinating Center, and the funding organizations, was responsible for T1DGC operations. The Coordinating Center, with regional network representatives, developed study documents and data systems. Each network established laboratories for: DNA extraction and cell line production; human leukocyte antigen genotyping; and autoantibody measurement. Samples were tracked from the point of collection, processed at network laboratories and stored for deposit at National Institute for Diabetes and Digestive and Kidney Diseases (NIDDK) Central Repositories. Phenotypic data were collected and entered into the study database maintained by the Coordinating Center.Results T1DGC achieved its original ASP recruitment goal. In response to research design changes, the T1DGC infrastructure also recruited trios, cases, and controls. Results of genetic analyses have identified many novel regions that affect susceptibility to type 1 diabetes. T1DGC created a resource of data and samples that is accessible to the research community.Limitations Participation in T1DGC was declined by some countries due to study requirements for the processing of samples at network laboratories and/or final deposition of samples in NIDDK Central Repositories. Re-contact of participants was not included in informed consent templates, preventing collection of additional samples for functional studies.Conclusions T1DGC implemented a distributed, regional network structure to reach ASP recruitment targets. The infrastructure proved robust and flexible enough to accommodate additional recruitment. T1DGC has established significant resources that provide a basis for future discovery in the study of type 1 diabetes genetics.

HLA genotyping in the international Type 1 Diabetes Genetics Consortium

“…For details on recruitment, participation, and initial sample handling, see the previous articles in this supplement [9,10]. Figure 1 shows the criteria of pedigree structure for inclusion of families and Table 1 the number of samples received at the T1DGC HLA laboratories.…”

Collection and processing of whole blood for transformation of peripheral blood mononuclear cells and extraction of DNA: the Type 1 Diabetes Genetics Consortium

“…Worldwide recruitment of the population is described by Rich et al [4] and Hilner et al [5]. The fundamental need to recruit participants from several geographic areas informed the decisions to establish network-specific repositories, thereby allowing efficient shipping of whole blood samples.…”

“…Within each region, procurement and processing of samples from probands and their relatives were identical. To minimize any differences in the collection and processing of samples, all blood collection tubes and fetal bovine serum (FBS) were obtained from centralized sources (Sarstedt, Inc and Invitrogen, Inc., respectively) as described by Hilner et al [5]. A central source of the United States Department of Agriculture (USDA) approved FBS also was required to enable subsequent transfer of the samples to a central repository in the United States.…”

Biobank participation and returning research results: Perspectives from a deliberative engagement in South Side Chicago

“…Biobanks are collections of tissue samples, blood samples, genotypic data and/or phenotypic data. They may focus on specific diseases [Hilner et al, 2010], whole populations [McCarty et al, 2008], or exclusively on pediatric or parent-child enrollment [Gurwitz et al, 2009]. The number of samples is growing exponentially both in the U.S. and abroad with many large collaborations [McCarty et al, 2011] and international consortia [Riegman et al, 2010].…”