What if doctors could better predict your risk of getting a condition and, where possible, work with you to prevent it from ever happening? What if you suffered from a disease, and they could be more precise in helping you manage it or how they treated you? Doing this would lead to better outcomes for patients at a lower cost and is why Partners established the Partners HealthCare Biobank.

The Partners Biobank is the result of a unique partnership of researchers, clinicians, and patients, who are contributing to the future of biomedical research. The Biobank is a large-scale repository of biological samples and research data that provides high-quality, affordable DNA, plasma, and serum samples to researchers.

Jordan Smoller in office near computer
Jordan Smoller, MD, ScD, is Co-Investigator for the Partners Biobank, Associate Chief for Research of the Massachusetts General Hospital (MGH) Department of Psychiatry, and Director of Psychiatric Genetics at MGH.

“We hope that the Partners Biobank will be an engine for new discoveries,” said Jordan W. Smoller, MD, ScD, Co-Investigator for the Partners Biobank, Associate Chief for Research of the Massachusetts General Hospital (MGH) Department of Psychiatry, and Director of Psychiatric Genetics at MGH. “With the unique resource that the Biobank provides, we hope to catalyze research that may lead to improvements in diagnosis and treatment so that we can find the best treatment for each person,” Smoller said.

Genotyping at Partners Biobank

The Partners Biobank currently is undergoing a massive initiative to genotype 100,000 subjects in hopes of advancing personalized medicine. The Partners Biobank staff have recruited 68,000 patients since the initiative began in 2010. Using state-of-the-art equipment, genotyping is the process of detecting genetic variations a person has. By studying how genetic variations relate to disease, scientists hope to identify new clues about the causes and opportunities for treating a wide range of diseases.

The Partners Biobank plans to genotype 50,000 patients and have already reached 15,000 toward that goal. The Biobank is recruiting 2,000 new patients each month to provide samples.
The resulting genomic data is available to all investigators, working in or with a Partners institution. With the first batch of genomic data already available, Partners researchers can focus on analyzing the data rather than performing the genotyping themselves. This allows them to more quickly study the genes—more than 1.6 million gene markers across the entire human genome—rather than recruiting subjects that could take many years and resources. The genomic data is being used to study disease, such as coronary artery disease, Type II diabetes, and Crohn’s disease, among others.

eMERGE grant: Harnessing the power of EMRs

The Biobank’s genetic research recently obtained NIH grant funding to join the eMERGE (Electronic Medical Records and Genomics) Network, a research consortium sponsored by the National Human Genome Research Institute. As part of this prestigious grant, Partners HealthCare was one of a handful of research institutions selected to participate in the eMERGE network, along with Mayo Clinic, Geisinger, Children’s Hospital of Philadelphia, and others.

The goal of the eMERGE consortium is to combine the power of genetic information from biorepositories across the country with data gathered from electronic medical records (EMR). Together, the data can provide invaluable information in understanding how genes and other environmental factors can influence people’s health and contribute to disease.

Susan Slaugenhaupt in lab
Susan Slaugenhaupt, PhD, is the Principal Investigator in the Center for Human Genetic Research at MGH.

In line with the objectives of the eMERGE project, the Partners Biobank has developed computational and statistical algorithms to comb through EMRs to identify people who are likely to have a certain disease or disorder. In this process, computerized tools extract data from EMR notes and reports. Chart reviews by disease experts helped identify features and variables associated with particular conditions and are also used to validate results of the algorithms. Leveraging these tools and methods, it is possible for investigators to focus on thousands or tens of thousands of people who are likely have a specific disease or disorder without having to manually review the EMR for each one of them.   

The hope is that research by the eMERGE network and other efforts involving the Biobank will  improve genetic risk assessment, prevention, diagnosis, and treatment. By combining EMR and Biobank information, Partners HealthCare Biobank is advancing genetic research discoveries and the goals of personalized medicine.

"The Biobank will give patients the power to partner with their physicians and leading scientists to discover important new insights into complex disease that will change how we practice medicine in the future," said Susan Slaugenhaupt, PhD, Principal Investigator in the Center for Human Genetic Research at MGH, Professor at Harvard Medical School, and Geneticist in the Department of Neurology/Molecular Neurogenetics Unit at MGH.

To learn more the Partners HealthCare Biobank at Partners Personalized Medicine, visit personalizedmedicine.partners.org. To participate in the Biobank, visit biobank.partners.org