Apr 15, 2015

Interview Transcript

Interviewer: Some call it the world's richest source of in depth information for advancing research and genetics, epidemiology, and public health. We'll talk about the Utah Population Database, next on The Scope.

Announcer: Examining the latest research and telling you about the latest breakthroughs. The Science and Research Show is on The Scope.

Interviewer: I'm talking with Dr. Ken Smith. He's not only Director of the Utah Population Database, but he's also a scientist that uses the database for his research. Dr. Smith, let's start this way. What is your favorite research that you've done using the Utah Population Database?

Dr. Smith: One of the topics that is of long standing interest to me has to do with the relationship between how we reproduce and how long we live. Women who seem to be able to reproduce at very late ages also tend to be much more likely to reach the age of 100.

Interviewer: Oh interesting.

Dr. Smith: These women are able to live a very long life and there's almost on every indication they do better in their older years.

Interviewer: Well that's interesting because that database seems to be very versatile in how it can be used.

Dr. Smith: Without sounding too modest but I think the database has been transformative in contributing to what we know about a great many diseases. There are easily 30 to 50 major genetic discoveries that have happened here in the state of Utah because of the Utah Population Database, in part or in full. These have come about and I think they're the scorecard for publications and federal research grants are . . . it's a very long list.

Probably one of the most well known examples of this with the database is for breast and ovarian cancer. The discovery of the BRCA1 and 2 or some people say BRCA1 and 2 genes and the mutations of those genes. They predispose women to really a quite high lifetime risk of getting breast or ovarian cancer. BRCA1 is probably again one of the most notable examples but there are others with colon cancer, and melanoma, and prostate cancer.

Interviewer: So tell me, what is the database?

Dr. Smith: Well certainly in the U.S. we are the only such database. So what it is, is a collection of data of genealogies, of medical records, of birth records, death records, information that will identify where people live, because we care about the environmental exposures. So all of these sources of data are coming to us from different agencies who are all mandated to collect this information.

So, for example, the Department of Health is mandated by law to collect information about all deaths and births in this state. So that's something they must do. Well they're also willing to share that information with us for the purposes of doing research. The Utah Cancer Registry is another really good example. They're mandated to collect the information they shared. So we work with all these organizations and at the level of the individual. So if we see John Doe in one record we can identify John Doe in another record and this requires a substantial amount of work to just put together the records.

Interviewer: I can imagine and how many records are we talking about?

Dr. Smith: It grows every day. A number I'll give you today will be wrong tomorrow but the number of people that we have in the database right now is approaching 8 million people.

Interviewer: Wow.

Dr. Smith: So this is pretty much everybody in Utah today and for a number of them who have some family connection to Utah then it's also going back. Our earliest record takes us back to the late 1600s.

Interviewer: You mentioned a little bit about genealogical data. How does that change what you can do with the data?

Dr. Smith: So we can identify these families where there are more cases of some interesting and serious condition in that family. And to know that is one thing, but to then to know the genetic basis of that is yet another. So once we know about these families, then we have a mechanism where we're able to then recruit these individuals. And by recruit I mean we consent them. So obviously we have to get their permission. And then we're able to collect tissue, typically blood and from this tissue we're able to extract DNA. Now increasingly, partly because of the cost, and the infrastructure, we're able to sequence, to get all the letters of the genome for that individual identified.

Once you get that information and once you get that information on multiple people some who are affected with a condition some who are not and then know the relationship between these individuals. Is it a mother daughter? Is it a couple of third cousins? Then it all becomes possible to start isolating the actual location or locations of the genes that are likely the causal genes affecting the risk of getting this disease. So the union of genealogies with medical records with the ability to recruit and consent and to collect DNA, this is a winning recipe for Utah to be able to contribute to this unbelievable genetic revolution that's going on right now.

Interviewer: And why is it that we have this genealogical information here, but it's not necessarily a component of other large databases that you can find across the country?

Dr. Smith: It probably won't surprise people too much to know that we have a church here that one of the aspects of that church is to collect genealogical information and because the Church of Jesus Christ of Latter Day Saints is right here in Utah and is prominent in Utah, a lot of the data that they collect genealogically pertains to the state of Utah. So through the Genealogical Society of Utah we have been able to get this genealogy going way back in time and so we're unique in that respect. I would add that is not the only way we get genealogy data. We construct our own genealogies from all the records that we collect.

Interviewer: But I couldn't look up my records using the Utah Population Database, could I?

Dr. Smith: Right. We are not a service for you to find Aunt Tilly in your family history. We're really for the medical research community. So we have many, many data safeguards to protect the data and the identities of the individual in the database. So no, we don't allow individuals to get to the identifiers.

Interviewer: Is there anything else that you want to make sure to get in there?

Dr. Smith: Going forward we hope to contribute to national efforts where we can partner with other organizations who also have as their quest to identify causal genes on these important diseases. And I will say we're a sought after organization and we're a sought after database because it's hard to reproduce this and hard to get this in enriched information about these high risk families. And yes these families largely live in Utah, but quite often they have . . . we all have relatives who live everywhere and those everywhere places likely harbor the genes that are being discovered here.

So going forward we working on trying expand our genealogical muscle to be able to connect to the rest of the country and that's an effort we've just begun. And that will allow us to take a discovery here in Utah and connect it to the rest of the country. So we are 3 million in Utah. We are 300 million in the United States. So if the 3 million can inform the 300 million then we would have done really a great thing.

Announcer: Interesting, informative and all in the name of better health. This is The Scope Health Sciences Radio.


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