Boston’s Brigham and Women’s Hospital (BWH) has announced plans to collect blood samples for genetic analysis from all consenting patients and then feed that information into a large database, allowing scientists to analyze patients’ genomes alongside detailed medical histories. The project aims to take advantage of the immense amount of patient information available in the hospital’s electronic medical-record system, which is one of the most sophisticated in the country and houses a level of medical detail missing from most large-scale genetic studies of disease. The project could also serve as a model for how to incorporate genomic information into both electronic medical records and clinical care.
A growing number of both academic and privately funded efforts aim to link patients’ genomes with their symptoms, but the BWH project is unique in its scope. As an academic medical center affiliated with Harvard Medical School, BWH serves a wide variety of patients, with nearly 400,000 routine visits, 58,000 emergency-room visits, and approximately 46,000 in-patient admissions per year. Researchers ultimately aim to open the project to the entire Partner’s Healthcare System, a local network of hospitals and medical centers that sees hundreds of thousands of patients.
While new genomics technologies have allowed scientists to identify hundreds of genetic variants that raise the risk for different diseases, the role that these variants play in individuals is still unclear, as is how to use the information to tailor treatment and prevention strategies for individual patients.
Christine Seidman, director of cardiovascular genetics at BWH and leader of the project, hopes that the new database will allow physicians and scientists to explore these questions in a rigorous way. “Say we have a group of people with a number of genetic risk factors for cardiovascular disease,” says Seidman. “Can aggressive treatment, including exercise, blood-pressure control, and statins, reduce their risk to that of someone without these risk factors?”
Other potential questions include the impact of various cancer-linked genetic variations on prognosis and responsiveness to different treatments, and the effect of cardiovascular-disease risk factors over time–for example, when a patient is 20, 40, and 60 years old.
Researchers plan to launch a pilot project involving 600 patients this fall, which will help determine how willing people are to enroll in the project, the level of genetic counseling needed to explain the project to potential participants, and how to minimize disruption to physicians’ work flow and patients’ visits.
Seidman says that it’s difficult to estimate the percentage of patients who will be willing to participate. About 90 percent of her patients have signed up for research studies of particular diseases. But in these cases, the potential benefit to patients or family members is clearer. A similar hospital-wide study that recently launched at Northwestern University garnered approximately 30 to 60 percent participation rates.
Initially, participants will not be given the results of their genetic tests. This differs from other research projects, which have trended toward open patient participation, and even open access. For instance, the Personal Genome Project, an effort headed by George Church at Harvard University, has deposited genomic information from its 10 initial volunteers into a public database, along with medical and other information, and it will do the same for thousands of additional participants. BWH is also developing new technology to manage the additional information that will ultimately become part of a patient’s medical record.
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