Current NHGRI Clinical Studies

ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study

ClinSeq

Study Overview

Genome.gov/ClinSeq - Play VideoThe ClinSeq Study is a project that seeks to learn about the role that your genes play in your health. We do this by getting a DNA sample from you, sequencing most or all of your genes, and then comparing that to what we know about your personal and family health histories. We are able to look at genes relating to a variety of health conditions. These include things like heart disease, breast cancer, and hearing loss.

Our goal is to enroll 1500 participants in the project. So far, we have over 900 participants, and we still need more volunteers for the study. Each member of the study has a clinical visit and tests to look at heart health. Study members also give us information on their family and medical histories. Finally, blood samples are taken for routine tests that look for health problems such as diabetes and high cholesterol, as well as for genetic testing. Participants get the results of all their testing (except the genetic tests) about one month after their visit. Study members receive the results of their genetic testing when they are available.

There are many goals of the study, including:
  1. To explain how genetic changes relate to health.
  2. To learn the best ways to share the results of genetic tests with people.
  3. To create new ways to analyze and store genetic data.

So far, our project team has published several papers and given many lectures on the study. This would not be possible without our participants! To find out more about the CinSeq project, and see if you may be eligible to join, please explore the ClinSeq Study web pages.

ClinSeq is sponsored by the National Human Genome Research Institute (NHGRI)

Note: ClinSeq study recruitment will focus on the metropolitan Washington D.C. and Baltimore areas in order to minimize reluctance to participate because of travel limitations.

Principal Investigator

Leslie G. Biesecker, M.D.
National Human Genome Research Institute (NHGRI)
National Institutes of Health


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Last Reviewed: July 25, 2012