PROJECT NARRATIVE: Recent recommendations to return children?s results for adult-onset conditions to parents anytime whole exome or genome sequencing is performed, as well as growing expectations to return research results to participants on a large-scale basis, mean adolescents will increasingly be engaged in assenting (<age 18) and consenting (>age 18) to return of genomic research results. There is an urgent need to understand adolescents?
PROJECT NARRATIVE Little is known about how health care providers (HCPs) will react to, and use, genomic information in patient care. The goal of this study is to understand how genomic information impacts HCPs and to make recommendations that will enhance HCPs' ability to successful integrate this information into clinical medicine.
This published study protocol for the MedSeq trials includes a description of the study design; recruitment, enrollment, and sample size plan; patient exclusion/inclusion criteria; and process of interpreting WGS results and delivering them to physicians. It also includes an example of a general genome report as well as a cardiac risk report.
The Implementing GeNomics In PracTicE (IGNITE) Pragmatic Clinical Trials Network, is a network of research sites that support the implementation of genomics in healthcare by conducting pragmatic clinical trials. The IGNITE I network, ended in 2018, focused on designing methods for incorporating genomic medicine into clinical settings. The IGNITE II network is focused on delivering genomic medicine in real-world clinical settings.
The Electronic Medical Records and Genomics (eMERGE) Network, organized and funded by the National Human Genome Research Institute (NHGRI), combines DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research in support of implementing genomic medicine.
This project employs a multi-method, transdisciplinary approach that combines ethnographic participant- observation, interview research methods, ethical, legal, and public policy analyses. The two goals of the present project are 1) to identify the ethical, legal, and policy challenges that the field of psychiatric genomics will face when trying to translate the findings of large-scale GWAS into clinically useful information, and 2) to make evidence-based recommendations about how to address these challenges.
The eMERGE project brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading medical research institutions across the country to conduct research in genomics, including discovery, clinical implementation and public resources. The primary goal of eMERGE is 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.
Genomic literacy plays a critical role in informed decision-making for genomic testing, in the implementation of the test and the accurate interpretation of the results, and in our policy making process as a society. The National Human Genome Research Institute's 2011 vision for the future of genomic medicine specifically cites the need for both providers and consumers to achieve genomic literacy. Yet despite its importance, there is no effective tool for assessing genomic literacy.