Elizabeth Wood Karlson, MD
The Partners HealthCare Biobank was created because we recognized the need for a large study to enable large numbers of researchers from Partners to conduct research on personalized medicine, new treatments, and novel mechanisms of disease.
This program brings us one step closer to preventive and personalized medicine. We aim to uncover the links between an individual's genetics, their family history, and the environment in the development of disease and in people's response to medications. Understanding a patient's genetic makeup can lead to better health. Based on genetic variants, physicians can screen more aggressively for diseases that their patients are predisposed to and develop plans to reduce the chances of developing specific diseases.
By understanding genetic variants that affect a person's chance of responding to a medication or having side effects from a medication, physicians can use genomics to choose the best medications for individual patients. This is known as personalized medicine. Ultimately, the goal is to define and classify subgroups of patients based on how they respond to certain treatments. Someday we'll be able to say, this patient has these three markers for a disease. So use drug x and not drug y. Based on a simple blood test, we'll be able to use the right drug on the right patient, every time.
The Partners HealthCare Biobank is integrated with Patient Gateway, an online patient portal at Brigham and Women’s Hospital and Massachusetts General Hospital. Currently, we are emailing 4,000 to 5,000 patients per week to invite them to join the Biobank.
The Biobank is collecting DNA, plasma, and serum samples. In addition, we have a number of collaborators who are collecting additional samples added onto these Biobank samples. Whenever we obtain a patient's sample, we also conduct a lifestyle and environmental survey. We ask patients about their physical activity level, the jobs they've held, tobacco or alcohol use, their weight, and more. This information helps researchers begin to understand whether or how certain external factors mix with a person's genetic makeup to lead to diseases.
We provide samples and data to many studies at Partners HealthCare, such as studies of heart disease, diabetes, rheumatoid arthritis, allergic diseases, and lung disease, among others.
Dr. Rose Du is a cerebrovascular surgeon and researcher at Brigham and Women's Hospital. She studies ways to better predict brain aneurysms. Mortality rates for brain aneurysms are very high in the first few days after an aneurysm rupture. Dr. Du is a surgeon who takes care of patients with ruptured aneurysms. Her research uses DNA samples to determine the genetic and epigenetic markers that are associated with aneurysm formation, rupture, and the clinical outcomes of aneurysm rupture. She aims to identify a unique genotype or set of expressed genes found in aneurysms that may be responsible for their formation. She's using samples from a group of patients who have presented to the hospital with cerebral aneurysms and patients without aneurysms to use as control populations.
Currently, family members are recommended to undergo the expensive screening process after two of their close relatives have been found to have aneurysms. If there was a blood test for genes that would show this increased chance of aneurysms, it could provide less expensive screening to a wider set of people.
Another example is Dr. Christine Seidman, a cardiologist at Brigham and Women's Hospital. Dr. Seidman's research defines and explores the role of genetics in human heart health. The Seidman Group specifically is interested in identifying the molecular genetic causes of cardiomyopathies, a disease that affects the muscle of the heart. Mutations in the sarcomere protein genes are known to cause hypertrophic cardiomyopathy. Today some, but not all, of the disease causing mutations in these genes are known and many of these mutations were discovered by Dr. Seidman and colleagues.
Dr. Seidman recruits and studies families with cardiomyopathy and enrolls them in the Partners HealthCare Biobank. Genetic studies are then performed on DNA from the Partners HealthCare Biobank for cardiomyopathy cases and controls. This line of research can lead to a better understanding of genetic causes of cardiomyopathies, opportunities to provide accurate and early diagnoses, and the potential to foster development of interventions and therapeutics.
In my own research, I study risk profiles for developing rheumatoid arthritis based on lifestyle factors such as smoking, obesity, or reproductive factors in women, and how these interact with genes to increase one's personal risk of developing rheumatoid arthritis. Currently, we are recruiting family members of rheumatoid arthritis patients and testing ways to educate them about their personal risk using an online risk calculator. I'm interested in compiling these risk scores among participants in the Partners HealthCare Biobank to see how a genetic risk score, and environmental risk score, and family medical history can contribute to rheumatoid arthritis risk.
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