Calling All Twentysomething: Your DNA Could Help Cure Disease

Jonathan Kay, MD


June 29, 2016

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Hello. I am Dr Jonathan Kay, professor of medicine and director of clinical research in the Division of Rheumatology at the University of Massachusetts Medical School and UMass Memorial Medical Center, both in Worchester, Massachusetts. Welcome to my Medscape blog.

Today I want to talk about biobanks. A biobank sounds like a place where you might find an ATM that allows you to withdraw something biological. In fact, a biobank is a repository for biological samples. Various institutions maintain biobanks. Here at the University of Massachusetts Medical School, we have a biobank that collects samples of serum, plasma, DNA, and RNA from patients with a variety of diseases.

A biobank recruits people from the general public and from clinical practices so that samples from diverse patients—both controls and patients with diseases of interest—can be included. The samples of serum, etc, are thus available for researchers who are conducting studies of different mechanisms of disease, allowing them to access these samples without having to go through the laborious process of collecting a cohort of patients.

For example, in the Division of Rheumatology at UMass, we are conducting research in patients with rheumatoid arthritis and spondyloarthritis, and we have contributed samples from these patients to the UMass Medical School biobank. The biobank also goes out into the community and recruits healthy individuals and individuals who have conditions such as hypertension and coronary artery disease to give samples. These samples are de-identified so that they are not linked to any patient's private information but are available for laboratory studies conducted at our institution. Other institutions, such as the Mayo Clinic, also maintain biobanks.

Currently, methods are being worked out so that the biobanks can share de-identified samples, with a catalog that has been developed that lists and describes the different kinds of samples. Thus, if UMass has a lot of samples of patients with ankylosing spondylitis and a researcher at the Mayo Clinic is interested in studying those samples, or someone at UMass is studying a peripheral neuropathy, and samples collected at the Mayo Clinic include patients with peripheral neuropathy, these samples can be shared to further the basic science related to these clinical diseases.

An interesting problem is that young people (in their 20s and 30s) are relatively reluctant or perhaps unaware of biobanks and therefore have not volunteered to give samples as readily as older individuals. It is important that young people volunteer so that we have an appropriate variety of control samples available for clinical and translational studies.

I want people to become more aware of biobanking. I am not singling out the Mayo Clinic and UMass as the only biobanks in the country. Other institutions have them as well. Eventually, I hope software and information technology will link all of the biobanks so that we can cooperate and collaborate on understanding the pathophysiology of many diseases.

I am Dr Jonathan Kay. Thank you very much for your attention. I look forward to seeing you again on Medscape.


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