MISSION: Promote Genetics and Genomics in Research and Clinical Medicine

Harvard Medical School (HMS) and Partners HealthCare System (PHS) established the Center for Genetics and Genomics in 2001. Dr. Raju Kucherlapati was recruited to be the first Scientific Director of this Center. The Center is accomplishing its mission through a number of strategic approaches that are described below.

The fields of Human Genetics and Genomics have matured significantly during the past several years. The science of Genomics enabled us to obtain the maps and DNA sequence of many organisms, including the human, and it is now well established that many aspects of human health and disease have a genetic basis. The tools that have been developed to accomplish the mapping and sequencing goals are promising to revolutionize medical research and clinical practice. Harvard Medical School and the participating institutions in Partners HealthCare possess a number of outstanding geneticists and genomicists. The Center will bring together this great talent to change the rate of discovery of genes involved in human disease, as well as to develop programs that will assist in the understanding of the roles of the large number of human genes and how changes in these genes result in predisposition to common diseases. Most importantly, the Center will strive to utilize this knowledge to better manage and treat the large patient population served by the Partners institutions.

The mission of the Center is being accomplished through four approaches:

1. Establishment of an academic unit

This academic unit is located in the New Research Building on the Avenue Louis Pasteur in Boston. A second academic unit will be a part of the MGH Genetics thematic center and will be located in a new building on the main campus of MGH that is scheduled to open in the summer of 2005. It is anticipated that the space will house 12-14 new faculty members, a third of who will be senior faculty. The research interests of the faculty will be the general areas of mammalian genetics and Informatics, with particular emphasis on individuals whose research interests are focused on the development and application of genetic and genomic tools for discovery of genes involved in common disorders. Other faculty will include individuals whose research interests complement several strong research programs at Harvard Medical School and Partners. These areas include cardiovascular disease, cancer, pulmonary disorders and neurologic, neurodegenerative and psychiatric illness. The Center has already recruited two outstanding scientists and additional recruitments are underway.

The Center will become a focus for intellectual activity in human genetics and genomics by hosting clinical and basic scientists who are committed to the mission of the Center. The Center is sponsoring seminars, symposia and courses to sharpen the focus on human genetics studies and its implications to clinical medicine.

The Center is also working with the Chairs and Division Chiefs to promote human genetic research and genetic/genomic medicine at HMS, its affiliated hospitals and other institutions in the greater Boston area.

2. Infrastructure for the Harvard-Partners Community

The Center has built an infrastructure that will ensure leadership in the areas of genetics and genomics research, as well as the clinical application of new discoveries.

Partners Genome Center: We have established a Harvard-Partners Genome Center in the new Partners building at 65 Landsdowne Street in Cambridge. The Genome Center is available for large-scale projects of sequencing and resequencing of genes and genomes.

Partners Genetics consulation service: In collaboration with the CCI at BWH the Center offers consulation service for investigators about genetics study design and phenotyping.

Partners Genotyping Center: This facility provides high throughput methods for microsatellite and single nucleotide polymorphism (SNP) based genotyping of human and mouse populations. The genotyping center utilizes many different platforms and the current SNP genotyping has a capacity of more than 100,000 genotypes per day. We anticipate that this capacity will increase significantly in the near future. This Center will also develop, evaluate and implement the most recent technologies involving large-scale genotyping. It is anticipated that the facility will act as an important resource for investigators who are interested in using large-scale genomic methods for disease gene discovery.

Partners Genechip and Microarray Facility: This microarray facility provides expression-profiling technologies for all members of the HMS and PHS community. The Center will support, extend and help modernize several existing gene chip facilities. The Center will provide commercial as well as high quality "home-made" gene arrays at affordable prices to all members of the community. The Center is currently makes available human, mouse and Drosophila arrays. The Center's facilities, in conjunction with existing facilities, also provides hybridization, washing and data acquisition services on a fee-for-service basis. It will also provide Informatics tools and expertise for analysis and interpretation of the profiling data.

Partners Proteomics facility: This facility has mass spectrometry units. This facility provides consultation to investigators about proteomics studies. It also helps in the design and execution of experiments as well as data analysis. One of the goals of this facility is to develop technologies for identification of disease biomarkers.

Harvard, HMS and PHS Center for Physiological Genomics: New high throughput methods are becoming available for rapidly annotating the genomes of many organisms (functional genomics). High throughput methods for detailed and accurate phenotyping of mouse mutants and human patients are becoming available (physiological genomics). The Center, in collaboration with the FAS at Harvard College, will develop and implement a plan to bring functional genomics and physiological genomics to our scientific and clinical community.

3. Partners Laboratory of Molecular Medicine

An important goal of the Harvard-Partners Center for Genetics and Genomics is to translate the knowledge gained from genetics and genomics to more accurately diagnose and treat the large patient populations served by the Partners Hospitals. Already several hundred genetic and genomic tests are available, and it is expected that several thousand additional tests will become available in the next few years. These tests are expected to help in diagnosis and prognosis and also in determining the appropriate drugs for individual patients. The Partners Laboratory of Molecular Medicine is a CLIA and state approved laboratory that provides genetic and genomic testing for patients around the world. It is also a leader in the development of new approaches to genetic testing and its integration into health care.

4. Medical Genetics and Education

Clinical services in medical genetics have traditionally been focused on the diagnosis, management, and counseling of rare single gene or chromosomal disorders. However new knowledge of genetics and genomics is catalyzing an expansion that will encompass all areas of medicine. The Center has established clinical services at Massachusetts General Hospital and Brigham and Women's Hospital, and will provide services for all of the Partners hospitals. In addition, it is developing collaborative programs with other departments and divisions to incorporate genetics into the care of patients throughout the existing system. It is also devising tools that will enable primary care physicians to provide their patients with appropriate advice, testing, and referral to address genetic problems in disease prevention and management.

The rapid pace of advancement of knowledge in genetics and genomics poses a major educational challenge for all health providers, investigators, and the public. The Center will play a leadership role in providing education on the importance of genetics in human health and disease and the ethical, legal and social implications of this knowledge. Teaching programs will include education for medical students, nurses, practicing physicians, and other health professionals. In addition. the Center will expand its educational mission by developing novel teaching tools for high school and college students as well as the general public.