Evaluation & Evidence Resources

The wide range of genomics implementation activities occurring globally are generating a tremendous number of tools and resources, many of which are being provided freely so that the genomic medicine community can access and share them with the goal of enhancing consistency and avoiding duplication.

The aim of this section is to provide links to existing resources that have been developed and used to generate data and evidence and which are being made available for other to use.

United States

The National Human Genome Research Institute (NHGRI)-Division of Genomic Medicine, National Institutes of Health

The Division of Genomic Medicine plans, directs and facilitates multi-disciplinary research to identify genetic contributions to human health and to advance approaches for the use of genomic data. The NIH expects and supports the timely release and sharing of final research data from NIH-supported studies for use by other researchers. As a result, many of the resources and tools from projects supported by the Division of Genomic Medicine are available for the broader genomics community to access and use with appropriate attribution to the creators of the material.

All program information and the full range of resources including surveys, education material, decision support and informatics tools can be accessed from the Division's website, but here are a few examples.

ClinGen - Clinical Genome Resource is a resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research. The resources and tools made available include interfaces for variant pathogenicity curation, clinical actionability scoring, an allele registry, consent resources and data sharing resources as well as an online registry for people who are interested in sharing de-identified genetic and health information (GenomeConnect). In addition, to promote consent for individual-level data sharing and facilitate the adoption of this practice by clinical testing laboratories, ClinGen has developed a one-page consent form for broad Genomic Data Sharing (GDS), freely available here.

Undiagnosed Diseases Network (UDN) is a research study that seeks to provide answers for patients and families affected by mysterious conditions. The research page provides details of the publications from the research, the genes of interest and the manual of operations describes the network’s research conduct and protocols.

Clinical Sequencing Evidence-Generating Research (CSER) generates evidence of clinical utility of sequencing in diverse clinical settings. The resources made available include a guide for healthcare providers to understanding and interpreting genomic test reports, a range of software tools including an app for taking family history pedigrees, information about online genomic courses and links to other genomics databases. In addition, research materials including a range of consent forms, education materials such as inherited mutation explanation cards in both English and Spanish, study questionnaires and the frameworks for primary and secondary results are available.

The Electronic Medical Records and Genomics (eMERGE) Network has a primary goal to develop, disseminate, and apply approaches to research that combine biorepositories with electronic medical record (EMR) systems for genomic discovery and genomic medicine implementation research. In addition, the consortium includes a focus on social and ethical issues such as privacy, confidentiality, and interactions with the broader community. On the Tools page website there are education and informatics-based tools, as well as templates and formats generated and implemented Network-wide and publicly available and shareable with other institutions or consortia. There are informatics tools such as CDSKB which is a clinical decision support knowledge base and eleMAP which harmonizes local phenotype data dictionaries to existing metadata and terminology standards. There are also education tools such as introductory videos and information about genetic test results and disease risk plus other templates and formats for consent and clinical reports.

The Implementing Genomics in Practice (IGNITE) consortium was created to enhance the use of genomic medicine by supporting the development of methods for incorporating genomic information into clinical care and exploration of the methods for effective implementation, diffusion and sustainability in diverse clinical settings. Through this consortium there is access to clinical and research tools. The tools for clinicians include background information, evidence overviews, flowcharts and decision tools. The Researcher section provides research and data collection tools such as sample consent forms, surveys, data dictionaries, and other resources for conducting implementation science research in genomic medicine from the IGNITE Network researchers and affiliates.

The Cancer Genome Atlas has created the Genomic Data Commons (GDC) Data Portal which is an interactive data system for researchers to search, download, upload, and analyze harmonized cancer genomic data sets, including The Cancer Genome Atlas (TCGA).