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Human Medical Sequencing Program and Current Initiatives

Program Rationale

With the completion of the human genome sequence, and the acquisition of the genomic sequences of a number of other organisms for the purpose of aiding the annotation of the human sequence, the National Human Genome Research Institute (NHGRI) now intends to harness the power of its large-scale sequencing program to reach the long-range objective of making human DNA sequencing a tool for both research and medical practice. As more is learned from sequencing and other studies about the genomic contribution to disease, and as the cost of obtaining sequence information decreases, genomic sequence information will become ever more important both for biomedical research and for providing medically relevant information to individuals. When it becomes affordable for an individual's genome to be fully sequenced, the information obtained will allow estimates of future disease risk and improve the prevention, diagnosis, and treatment of disease.

The Institute is particularly interested in defining a sequencing program that will both drive technology and produce data useful to biomedical research at all stages along the way. It is anticipated that this program will include efforts to obtain genomic sequence data from many individuals with known phenotypes, as such data will be critical for addressing a wide range of questions important for advancing biomedicine.

In addition to the Medical Sequencing Program (MSP) initiatives described here, there is a related NHGRI initiative, the The Cancer Genome Atlas, which is a separate collaboration between the National Cancer Institute and NHGRI.

Finally, there are two trans-NIH genotyping initiatives, the Genetics Association Information Network (GAIN) and the Genes, Environment and Health Initiative (GEI), which have some similar features.

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Medical Sequencing Program Initiatives

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Approved Medical Sequencing Projects

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How to Access Medical Sequencing Data

Medical sequence data produced under NHGRI funding are available through a tiered repository maintained by the National Center for Biotechnology Information or by the National Cancer Institute Center for Bioinformatics for cancer sequencing projects. Fragmentary sequence data and minimal phenotype data that cannot be used to identify a participant will be released to an open repository. Information enabling the association of fragmentary sequence data, and associated phenotype data will be available only to biomedical researchers through a controlled access repository. Access to the controlled-access database requires NHGRI review and approval of a Data Access Request.

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Process for Selecting New Medical Sequencing Targets

In 2005, NHGRI convened a Medical Sequencing Working Group (MSWG) to help it chart a course towards the aims described above. The MSWG has been charged with providing general advice on how the program should evolve and specific advice about projects that NHGRI should pursue in the near term with its existing sequencing capacity. The MSWG is also charged with providing guidance on setting policies for ethical, legal, and social issues arising from the program.

All sequencing targets and rationales proposed by the MSWG are assessed by the Coordinating Committee for sequencing target selection and by the National Advisory Council on Human Genome Research.

A roster of MSWG members is available here:

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Opportunities for New Medical Sequencing Proposals

  • Currently, there are no openings for new proposals in this area. However, NHGRI encourages investigators that are interested to contact program staff to discuss potential projects. Please send inquiries to the program contacts listed below.
  • Special Note On Informed Consent and Human Subjects: One major factor in being able to go forward with medical sequencing studies has been the adequacy of the consent under which the samples were originally collected, and their consistency with NHGRI's data release policies for medical sequencing data. If you are potentially interested in proposing a new medical sequencing project target to NHGRI, we urge you to talk to a program contact as early as possible in the process.

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Medical Sequencing Policies

In the course of implementing the medical sequencing pilot projects, NHGRI has developed a detailed and extensive set of Medical Sequencing Policies and Data Access Policies that describe procedures for the provision of samples; appropriate informed consent for research participants; deposition and release of data; and access to medical sequencing data. These policies differ significantly from those used for the Human Genome Project, and for organismal sequencing, due to the requirements for the protection of research participants.

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Program Contacts

Adam Felsenfeld, Ph.D.
Program Director

Jane Peterson, Ph.D.
Associate Director, DER

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Last Reviewed: June 5, 2012

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American Society of Human Genetics