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Diagnosing the future of genomics

November 23, 2009 By Erika ECH Check Hayden This article courtesy of Nature News.

Eric Green discusses his priorities as newly appointed director of the US National Human Genome Research Institute.

On 17 November, US National Institutes of Health (NIH) director Francis Collins named Eric Green as head of the National Human Genome Research Institute in Bethesda, Maryland — the post held by Collins before he became NIH director. Green talked to Nature about his plans for the institute, which has a budget of almost US$500 million.

What is your vision for the institute?

Until 2003, the institute was pretty much viewed as being synonymous with the Human Genome Project, and in that year we published a new vision for the future of genomics research — that was 'version 2.0' of the institute. If you look at the way that genomics could glue together disease-related work with clinical opportunities and new technologies, you can start to envision a 'version 3.0' for the institute that could have an even greater and broader presence in disease-related work and translational opportunities.

Given that genomics is becoming ever more relevant across all the disease-specific institutes, does there still need to be a separate genome institute?

If you look at the stimulus money that has been spent in 2009, far more money was spent by the other NIH institutes on projects such as large-scale sequencing than by our institute. We've been able to facilitate their efforts by putting the technology in place, and putting centres and programmes and expertise out there.

Much of what the institute has been about has been development: developing strategies for mapping and sequencing genomes, developing sequencing technologies, developing bioinformatic pipelines for assimilating the data, and developing policies and approaches for sharing data. That's what we need to do: we should be a developmental agency for dealing with the next frontier. It's fantastic when those pipelines and data centres end up getting used to fund new disease-specific work.

When can the public expect to see the benefits of the Human Genome Project?

There are already examples in which, for instance, analysing the sequence of genomes has led to a better understanding of the molecular basis of cancer and to specific therapies. There are going to be pharmacogenomic examples in which our knowledge of specific sequence variants can dictate exactly which drug should be given. I would be surprised if we didn't see many more examples over the next five to ten years.

What advice would you have for people who are considering buying personal genomics services from a company to find out their genetic risk for common diseases?

I haven't yet gone to get that information, because I think that the amount of information available at this time wouldn't really change anything that I am doing. A lot of what I know about my own health is based on family history — I think that understanding family history, and making sure your physician knows that, is incredibly valuable, and that's where I would put my priority at the moment. But it is a changing landscape, so I don't think any advice I would give today would be the same a year from now.

How useful are genome-wide association studies that look for genetic variations associated with particular traits or diseases?

It depends on whether you're a glass-half-full or glass-half-empty kind of person. If you've been studying a complex common disease for a decade and all of a sudden you get a clear association to a region of the genome, and you are now on the way from genotype to doing biology, that's the glass half full. Another person can say those discoveries have only accounted for 10% of the genetic risk, which leaves 90% unaccounted for. I think it means we've gotten into some successful arenas and we've got some work to do to figure out the other 90%. I don't think it's a failure; I just think it means the genomic architecture is more complicated than some people anticipated.

What would you say to those people who think that the genome institute is too focused on large sequencing centres and large projects?

I think that the large sequencing centres have been fantastically productive and have made great contributions in genomics. I think what we'll be doing in the coming months and years is not focusing on the size of our sequencing centres, but focusing on which scientific agendas are most compelling and then figuring out what needs to be done in small, medium-large, individual and core facilities.

How do you think your approach to the role will differ from that of Francis Collins when he headed the institute?

He was an awesome director and left the institute in an extremely healthy state. I think our perspectives might be slightly different, and that might refer back to our clinical training: he was trained in internal medicine and I was trained as a pathologist. His interest in genetics was getting candidate genes linked to individual diseases in human patients he saw. My interest in genomics came from running a hospital lab; I was into technology and large-scale analysis of patient material, and using that to predict aspects of patient disease.

I got more enamoured with the idea that, one day, having genomic information would guide treatment for individual patients. In the future, that might guide me more towards the diagnostic aspects of genomics in medicine. But Francis is still head of the NIH and has a lot of interest and influence on genomics across the whole agency.


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