Hospitals Collaborate to Open ‘Undiagnosed Disease Center’

When you live in Boston, it’s easy to forget that your “local” hospitals are some of the best in the world. So when they team up to create a mega-center it’s easy to get excited.

Now, a new project funded by the National Institutes of Health through a $7.19 million, 4-year grant is bringing together Brigham and Women’s Hospital (BWH), Massachusetts General Hospital, and Boston Children’s Hospital (BCH) to form the new “Harvard Center for Integrated Approaches to Undiagnosed Diseases.”

In fact, the NIH isn’t stopping with Boston. In total, six centers have been given four-year grants of about $7 million each. The other five centers are: Baylor College of Medicine, Houston; Duke University, Durham, North Carolina; Stanford University, California; University of California, Los Angeles; and Vanderbilt University Medical Center. Harvard Medical School will serve as the coordinating hospital for them all.

“The Undiagnosed Diseases Network will focus on the rarest of disorders — often those that affect fewer than 50 people in the entire world,” Dr. Eric Green, director of the National Human Genome Research Institute, told NBC News. “They are so rare that they may never have been discovered or doctors may never have encountered them.”

Rare and hard-to-diagnose diseases can result in treatment delays, repeated diagnostic tests, and increased health care spending, not-to-mention how difficult it is for patients and their families (and for the doctors trying to diagnose the disease).

“Here in Boston we have enormous potential to help these patients by uniting the leading experts from these world-class institutions to bring the latest in medical knowledge and technologies to bear on these difficult cases,” said Joseph Loscalzo, chairman of the Department of Medicine at BWH and principle investigator of the new Center. “This center gives us the opportunity to highlight the utility of modern genomics to human disease. We are hopeful that the new center will not only provide diagnostic answers and potential therapeutic strategies for those directly seeking a diagnosis, but also that the knowledge gained through the evaluation of these cases will inform our understanding of the many complex diseases we face.”

According to a statement released by BWH, the Center will work with both children and adults:

The Center will seek to ascertain and characterize undiagnosed diseases in adults and children through a combination of careful clinical evaluation, genetic and genomic analysis, environmental exposure analysis, proteomics, metabolic studies, systems biology, and network medicine analysis. In its first year, the three Boston institutions will enroll and care for 12 patients, increasing to 50 per year by the fourth year.

The NIH Undiagnosed Diseases Program has received approximately 10,000 inquiries since 2008, and investigators have evaluated more than 3,000 medical records and admitted 750 patients to the NIH Clinical Center for thorough, one-week evaluations. Through this newly established Network, these resources will be more accessible to patients throughout the country, and more inquiries will be addressed.

A major goal of this program will also be to help train clinicians in the use of contemporary technologies and genomic approaches for medical diagnosis. While advances in the science of genetics and genomics in medicine have made it possible to understand the causes and potential targets for treatment of some of these diseases, there is still a number of questions about how to use it properly and what the best course of action is when relaying that information to patients.

“It is likely that many of these undiagnosed diseases are a result of a combination of multiple genetic, environmental, and developmental factors. Genetic sequencing can be a powerful approach to understanding the genetic contributions to undiagnosed diseases; however, these methods alone are unlikely to elucidate the basis for many, if not most, undiagnosed diseases,” said David A. Sweetser, chief of pediatric genetics at MGH.

With all these hospitals on board, it will be exciting to see what comes out of the new Center. The NIH says that it hopes each center will be seeing 50 patients a year by 2017.