The main message is that genomics have hit clinical medicine. We now can use these magnificent
tools that the NCBI has supported through GenBank over the past 25 years, and we're
Narrator: now at the point where we can really apply them to learn more about therapeutics and
how they're going to help treat everyday diseases in all of us. It's really very exciting.
Well, pressure is an odd word. I would say that we're just taking advantage of the
excitement in the scientific opportunity. And I think as scientists, as physicians,
as clinicians when we see the opportunity and we know in our mind how to get
from x to y to z, then we say all right. Let's go. Let's go for it. And that may be the
self-imposed pressure to get there, but if that's the case, well, I'd say that's great.
Well, you know, when we develop a strategic plan which we've done recently in the
Heart, Lung, and Blood Institute, we bring in experts from around the world. As an example,
when we formulated our strategic plan, we had over 800 scientists come in and advise us.
We drafted a plan. We then sent it out to the communities, to patient advocacy groups,
to professional organizations. We put it on our website for the public to react to.
So, indeed, what we do is certainly informed by the public, by their curiosity,
what they want to know, and what they want to see coming from this medical research.
I keep reminding individuals in my institute that our investment is really taxpayer dollars.
We need to keep thinking about our leveraging of taxpayer dollars. How are we going to
bring the best return on taxpayer investment in medical research in this country?
Well, I'll tell you, it's a tremendous, tremendous resource. When we were formulating
the Framingham SHARe program in which we wanted to genotype the 10,000 participants
in the Framingham Heart Study, we knew that we had 60 years of clinical information
that we had gathered, and we wanted to put the genotypes and the phenotypes together
in a common database. Well, simply picked up the phone, called Jim Ostell, David Lipman,
and said, "What do you think, guys? Can we create this database?" And they said, "Sure."
And before we knew it, there was dbGAP - database Genotype and Phenotype, which is now
the NIH repository or dataset, data bank for these very, very rich genotype/phenotype datasets.
Absolutely. In fact if you look at dbGAP today, there are datasets from autism,
Parkinson's disease, macular degeneration, schizophrenia, diabetes, a number of what
we would call common diseases, and that dataset is only going to increase with time.
It now is our policy here at the NIH that any genome-wide association study funded after
January of 2008, that data must be deposited into dbGAP, so I would say in five years time
that dbGAP is going to be an enormous dataset, and again available to the public.
It sure did, and again it's this notion that these datasets are so rich and contain so much
individual - it's more than a single individual or a group of individuals could ever really
analyze over their lifetime, so let's get more minds taking a look at this, and the concept here
is that the whole is greater than the sum of the parts, that the discoveries, the applications,
clinical medicine will only accelerate if we've got multiple people working on these datasets.