The future of DNA sequencing at the NHGRI

8 June 2009

The US National Human Genome Research Institute (NHGRI) is currently under-taking a long-range planning process on the future of human genome research (see previous news). As part of this process the NHGRI convened a workshop in March 2009 to discuss the future of large-scale sequencing and has recently released a report of these proceedings. The workshop specifically addressed large-scale sequencing and discussed new projects that will become possible with new sequencing platforms and was aimed at providing guidance on how the NHGRI should continue to support this field over the next five years.

The Future of DNA sequencing at the National Human Genome Research Institute report outlines a number of general as well as some more specific recommendations which were developed through the course of the workshop. The general recommendations recognised the NHGRI’s unique position within the National Institutes of Health (NIH) and stated that it should maintain a sequencing program that involved large-scale sequencing centres but should also provide opportunities for smaller, more specialized groups to engage in next-generation sequencing projects. In addition, it was also recommended that the NHGRI should address the technical problem of how to finish genomes using new technologies.

Specific recommendations were made in relation to three main topics:

  • Strategic planning for selecting projects, sample co-ordination, ELSI and consent in the fields of medical sequencing and organismal sequencing
  • Genome Sequencing including human genetics, functional genomics, cancer, the human microbiome and genome evolution and model organisms
  • Downstream issues in relation to data analysis and informatics

These included recommendations calling on the NHGRI to encourage the creation of sample repositories to ensure the continuous availability of high quality samples and encouraging community education about genome sequencing projects. Recommendation were made in each area of genome sequencing, such as characterisation of sequence variation underlying most common disease with relation to human genetics and implementing deep transcriptome sequencing in the area of functional genomics. With relation to downstream issues, recommendations were made relating to data security and privacy, software and hardware infrastructure and biology using computation.

Although no programmatic decisions have been made on the basis of these recommendations, the NHGRI will incorporate the findings of this workshop in its decisions. The report states that although the purpose of this workshop was to provide guidance for the NHGRI, as it also collaborates with a number of other international entities such as the Wellcome Trust Sanger institute in the UK, the benefits of large-scale sequencing mentioned in the report will also be shared with international colleagues.

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