|Human Genetics Research Consultation Service|
The Center is pleased to announce the formation of a new program to further serve the needs of the clinical research community. The Human Genetics Research Consultation Service was created through a collaborative effort between the Partners HealthCare Center for Personalized Genetic Medicine (PCPGM) and the BWH Center for Clinical Investigation. This program is designed to provide consultation and direction to clinical investigators regarding the incorporation of genetics and genomics in their research, including assistance in study design, help in arranging collaborations and accessing available resources for genotyping, sequencing and genetic epidemiology. Dr. Juan Celedon, of the Channing Lab in the BWH Department of Medicine, directs this service.
To provide consultation to investigators for the incorporation of genetics and genomics into their research, including help in arranging collaborations and accessing available resources for genotyping, sequencing, and genetic epidemiology.
Provide education to the clinical investigative community on the use of genetics and genomics in clinical research. Educational programs would take the form of introductory courses intended to familiarize investigators with the opportunities and general approaches, as well as shorter, more focused short courses intended to provided sophisticated investigators with specific skills necessary to carry out a particular study. This will be in collaboration with the CCI (BWH) and CRP (MGH).
To offer and coordinate consulting services on issues of study design for human genetic studies.
To assist clinical investigators in the submission of successful IRB applications for human genetic studies.
To assist investigators in the submission of successful grant proposals for human genetic studies.
The rapid advance of knowledge of the human genome, especially the availability of a draft sequence and multiple polymorphisms, have opened vast new opportunities in clinical investigation. Tools are now available that will enable investigators to identify genetic factors that contribute to both rare and common disorders; to stratify patient populations using a new set of markers that may identify disease subgroups based on differences in pathophysiology; to develop new approaches to risk assessment and diagnosis; to study natural history of disease using markers that identify at-risk individuals in a presymptomatic state; to develop and test new approaches to treatment based on targeting particular dysfunctional cellular pathways.
Capitalizing on these opportunities requires placing knowledge, tools, and resources in the hands of clinical investigators. Although many have already recognized this opportunity and arranged individual collaborations, many others have found it more difficult to make the move towards incorporating genetics and genomics into their research. The major goal of this program is to remove the barriers to achieving this access integration of genetics and genomics in clinical research. The expectation is that this program will result in an increase in the number of externally funded clinical research studies that use genetics and genomics, and will result in the development of a community of clinical investigators who become nationally recognized leaders in genetics of common disease.