Search for tag: "laboratory"

Dr. Miller: Do you need standard laboratory screening studies during your examination? We're going to talk about that next on Scope Radio.

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Dr. Miller: Hi. I'm here with Dr. Jerry Hussong. He is a clinical pathologist and the Chief Value Officer for ARUP Laboratories here at the University of Utah. Jerry, it's pretty typical for most physicians in primary care to order a set of laboratory studies, a full blood panel, a complete metabolic panel and sometimes a lipid panel and we do this almost routinely, reflexively. And I guess for the patients out there, maybe you could tell us what's the value of getting these tests if you are totally healthy? Do you think they're necessary?

Dr. Hussong: So when we think about some of the common laboratory tests that are offered as part of an annual physical exam or for a specialized sort of inquiry into patient's health, there probably are some that we should think about that really should be done once a year. And these would include the complete blood count or CBC, the chemistry panel, even though it can be a limited chemistry panel or metabolic panel as some people may refer to it, as well as urinalysis or UA. Those are the ones that we probably should be thinking about as just sort of routine annual tests. There may be a number of other tests that the physician may want to order to address a specific problem that the patient may have, but as a part of the screening test those are the ones that we want to be thinking about.

Dr. Miller: What in those laboratory studies do you think that we might be looking for that would be important for the patient?

Dr. Hussong: Sure. So when we're thinking about a complete blood count or CBC, we're really looking at it to see if the patient may have anemia, for one, to see if the red blood cell count is adequate or potentially even decreased or increased. We also might look at the white blood cell count, which may be an indication of infection that may be going on or an indication of possibly a leukemic process that could be going on. Some patients will present with low platelet counts, which could be an indication or reason why they're experiencing increased bruising as they might see.

Other things that we see with the metabolic panel or the chemistry panel is things evaluating kidney function such as the BUN or creatinine. We also will monitor glucose as a screen for diabetes and then a number of the other biochemical electrolyte like things such as sodium and chloride.

Dr. Miller: Certainly important when patients have any of these illnesses, but I think what you're saying is that a person who feels very well may have some of these abnormalities, which could be an indication that there is early disease that they might begin to have treated or respond to in a way that would prevent it from being a bigger problem down the road.

Dr. Hussong: Exactly. And this is really just a small number of tests that we use to screen for some sort of wider range of problems that the patient may be having. It's really sort of a truncated panel of all the different types of tests that the physician could order, but really allows us to get a global sense of the overall health of the patient during their physical examination.

Dr. Miller: Now these time-honored tests, and I've ordered them myself and I continue to do so, basically are not terribly expensive. Is that correct?

Dr. Hussong: The tests that we were talking about just now, they're very inexpensive and I think that's important for the patients to realize. There are lots of specialized, newer tests that are out that can cost up to thousands of dollars, but these are very inexpensive tests that can provide a lot of information to the treating physician.

Dr. Miller: And how about a thyroid test? We sometimes order that if we suspect the patient may have a thyroid disorder if they're fatigued or if there's a sudden gain in weight. Do you think that's a useful screening test or should we just maybe order that when there are indications to do on the clinical exam?

Dr. Hussong: I don't think it's a great screening test just overall if someone doesn't have any signs or symptoms that indicate any thyroid disease. I think if there is worry for that it's important to go through sort of a stepwise process ordering a TSH, for instance, to start with and maybe a T4 but not to go to some of the specialized tests for thyroid function analysis unless you have a real indication and have some of these preliminary test results back first.

Dr. Miller: Great. Now the other thing is patients sometimes forget to ask and physicians sometimes forget to tell them whether they need to be fasting for these tests. What's your opinion on that for the series of screening tests you mentioned, the CBC, the complete metabolic panel or cholesterol panel?

Dr. Hussong: So not for these tests, but there are a number of tests that we do in the pathology laboratory that do have special requirements as you say whether it's fasting or other things that they need to do or certain times of test, times of the day when the blood should be drawn whether it's morning or after a meal and so for these basic tests there is no specific requirements to be thinking about to have these routine tests done.

Dr. Miller: What about the cholesterol panel? Sometimes I'll tell people to fast for the cholesterol panel.

Dr. Hussong: It's probably a good idea. You want to get a real indication as far as where the patient sits in regard to their cholesterol levels but, at the same time, you don't want them to just have had a huge meal that may artificially elevate their cholesterol.

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updated: November 20, 2018
originally published: July 7, 2015

Interviewer: A glimpse into the history of the Utah Genome Project, up next on The Scope.

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Interviewer: I'm talking with Dr. Ray Gesteland, emeritus professor of Human Genetics at the University of Utah. Emeritus. I guess that means you've been around a while.

Dr. Gesteland: I've been around a long time.

Interviewer: When did you start at the University of Utah?

Dr. Gesteland: I came here in 1978.

Interviewer: What was it that brought you to Utah from the East coast, I believe, right?

Dr. Gesteland: So I had been at Cold Spring Harbor Laboratory, hot bag of genetics and molecular biology for about 11 years. Jim Watson was the director of that institution. And I worked with him as assistant director and had not known much of anything about Utah.

And then two things happened that made my ears perk up. One was Mario Capecchi, who I had worked with as a graduate student years ago. Had made the decision to move to Utah, and he was leaving Harvard to go to Utah. So that told me something special must be happening there because I had great respect for him. John Roth spent a sabbatical year in my laboratory at Cold Spring Harbor, a very smart geneticist from Berkeley, and he was moving to Utah. And I said, "If those two guys are going to Utah, there must be something really unusual going on."

Then I had the opportunity to come out here and look at a job, and it was love at first sight. Staying at the Alta Lodge, looking at High Rustler in the springtime was hard to turn down. But it was really the genetics opportunity, when I saw what the genetic resources were here.

Interviewer: And what were those resources?

Dr. Gesteland: Well, it was mostly people, a great bunch of people who are at Utah with the idea of doing long-term projects that would be hard to do many places, where quick return is expected. And there was the Mormon genealogical database, which I really didn't know much about, but realized this has got to be important for the future of understanding genes in humans.

But I think it was the style of the place more than anything else that really appealed to me. That the guy down the hall is a colleague, not a competitor, and he's someone you can do things with, collaborate with, made it very appealing.

Interviewer: And what was it like then?

Dr. Gesteland: There was already a genetics effort going on here and really goes back to some of the early founders. George Cartwright, Frank Tyler, Max Wintrobe, Eldon Gardner, who saw the opportunity of pursuing genetics long before any of this technology came along, partly because of the unique resources here in Utah.

In fact, the very first research grant that the National Institutes ever gave out, the only one at the beginning in 1945, came to Utah to Frank Tyler to study a family with muscle disease. He had assembled a huge family with many, many members, some of who had the disease, some of who didn't. And he got this $300,000 grant from NIH to begin to study that family. So that goes back to 1945.

Interviewer: Yeah, that's amazing.

Dr. Gesteland: And then Mark Skolnick came in 1974, I believe, to begin to computerize the genealogical database. That was really started by a planning grant for cancer research from NIH. And the thought was that if we could get the genealogical records in a computer database, we could begin to search and assemble families that would be useful to study for understanding their genetics.

Interviewer: And that's what's called the Utah Population Database today.

Dr. Gesteland: And then it built from there. When the human genetics department was founded with Ray White and I as the initial leaders. That is building on a base that was already here.

Interviewer: Really the seeds of all this is the unique population that's here in Utah, I imagine. The fact that they keep detailed records on their ancestry and have large families.

Dr. Gesteland: Yeah. So I think it's more than that. The population has a real innate interest in genetics. They're interested in their heritage, their families, and keeping track of that. Plus, they're very willing to be involved in studies. You go to a family that might have a disease you wanted to look at and ask people to participate in the study, 95% of the people will sign up and say, "Terrific. Here's 10 little liters of blood. Let's see what you can do." That's very different than other places in the country.

But the value of that large database has taken on even greater meaning just in the last few years. The hope was that just by looking at large numbers of people with different diseases, you could find all the genes that cause disease. All that turned out to be not so simple because many genes are involved in most diseases. So if you would take some common disease, say, high blood pressure, you can find a thousand different genes, each of which contribute some small amount to that predisposition to high blood pressure.

Well it turns out, scanning the population at large for those genes and figuring it out just doesn't work. What works is to identify families and sequence genomes of five or six people from one family, some of whom have the disease, some of them don't. That's the way you'll find the specific genes involved in that family and then by extension to other families. So the family structure has become absolutely crucial now, for the next stage of finding genes involved in the predisposing to human disease.

Interviewer: That's what is becoming the precision in medicine initiative today.

Dr. Gesteland: Precision medicine, personalized medicine, whatever you want to call it, but it's here. It's got a long way to go, but it's going to be a fun ride to watch.

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Interviewer: Today we're speaking with Dr. Carl Wittwer, University of Utah Professor of Pathology, who recently was made a Fellow in the National Academy of Inventors, along with two other University of Utah faculty. You came to the University and one of the directives for you, in your position here, was to find new technology. What did you invent?

Dr. Carl Wittwer: I was a new professor, first academic job. And I had a small laboratory but I had a need that I wanted to do the PCR process. That involves changing temperature, usually between two or three different temperatures. And the equipment to do that, although common today, did not at that time exist. So being somewhat naive and energetic, we decided to build our own instruments. Initially they were somewhat comical instruments, derived from heaters off of hair dryers and fans off of vacuum cleaners. But with a lot of trial and error and a number of prototypes that did not work at all, or not very well, I came up with a very good replication of what was then starting to come out as PCR machines. With one exception. We were able to do it fast. We were able to change temperature very quickly. And if you think about some of the diagnostic applications for PCR, faster answers are always more useful. Typically, at that time, PCR was on a two to four hours with the rapid system. So we developed, we cut the time down to 10 to 15 minutes.

Interviewer: Okay, can you tell us what polymerase chain reaction is and what it does?

Dr. Carl Wittwer: Certainly. Long name but simple concept. Cells in your body replicate after they've made two copies of DNA. Now, you can do this in vitro or in a test tube by the polymerase chain reaction.

Interviewer: And what's the advantage of replicating DNA?

Dr. Carl Wittwer: The advantage would be to amplify that DNA so you can test the sequence of the DNA much easier. So there's only very minute amounts of DNA in most cells, and the process of amplification allows you to interrogate or look at it, ask questions about what it is doing. What the bases are, what it's coding for. And whether or not there's any variance in the DNA. So ,it's like a large magnifying glass.

Interviewer: And what then can you learn from all this DNA that you've amplified and made, I take it, millions of copies of?

Dr. Carl Wittwer: Millions of copies. You'll of course be familiar with the forensic applications that you see on television in terms of identity or ancestry. In the clinical laboratory the major applications are in three different areas. Infectious disease, DNA that should not be there in a sample from an individual. Oncology or cancer, which of course is made, or is caused by changes in DNA. And finally, in genetics. To test for genetic diseases, characteristics that you may have that other people don't have.

Interviewer: From this first invention of yours, a company called Idaho Technology was eventually born.

Dr. Carl Wittwer: Correct, yes.

Interviewer: And Idaho Technology then manufactures these devices?

Dr. Carl Wittwer: Yeah, the initial device, again, we're back in 1990 or so, so it's quite a while ago. We called it, not surprisingly, a Rapid Cycler. A niche product but people were interested in doing things quickly. And it kept the company alive for quite a while. One other thing that we developed was looking at DNA melting. So if you remember the double helix form of DNA, it's got two strands. And if you heat it up, eventually those two strands fall apart. And if you watch very carefully, about how they fall apart, you can tell an amazing amount about what that sequence is and what it does. And any changes that may have occurred in that DNA. Later on the company, which eventually changed its name to BioFire, has been very successful in getting FDA approved products that look for syndromes that are caused by infectious agents. And even though it might be a common syndrome, like a flu-like illness or gastrointestinal symptoms, there's only a limited number of organisms that can actually cause those things. So this particular device will identify the caused organism of a syndrome. All within an hour. If you think back to your experiences at the doctor's office and how long it might take to get results back to you, this has all been encapsulated in to a one hour test. In terms of genetic and infectious disease diagnostics.

Interviewer: It seems to me there's a very creative process going on when you're inventing. What makes you so creative in that area? Or what makes you want to be so creative in that area?

Dr. Carl Wittwer: Yeah, so the old catch phrase of need is the mother of invention, you have to want something. You have to want a goal. You want to be able to achieve something. Whether it's doing PCR fast, which is still one of our, one of my major goals. To take the speed of amplification as an example, at the time that we changed a multi-hour process down to 10 or 15 minutes, that was pretty extraordinary. And I remember someone had a cold call from the blue who criticized me on the phone severely and said, "Wittwer, how can you lie to the public in your scientific publications?"
So, when you really do something that's different, people will not believe what you've done. The next step usually is they'll say, "Okay, I admit that you've done it but it's not worth anything. What are you going to use it for?" Right? And then eventually you'll get some adherence. Some people who say, "Ah-ha, this actually really works." And eventually it might penetrate the market and you might be very successful in terms of company products. Of course, at that stage, usually the original inventors get forgotten. But what you need to remember is that's part of the process and it's actually success when that happens.

Interviewer: What does the future have in store for you and your research?

Dr. Carl Wittwer: We started by making PCR faster than it was at that time. And although it's taken us 20 years to revisit the speed of amplification, the speed of PCR, we now have systems that take that 10 to 15 minute process and can actually produce robust, efficient, quantitative PCR in less than a minute. So start thinking about point of care applications, where you're actually waiting for the answer. So, when you can potentially get results out in under a minute timescale, it changes the way you think about providing diagnostics. Particularly at the point of care. So, of course I'm very excited about this again. Again, currently the state of this is in prototypes that no one, that are not commercially feasible and that very few people would have the patience to work with. But in terms of proving the point, the limits of, be it, in this case, speed, you end up with those prototypes that hopefully other people will pick up and make more commercially practical.

Interviewer: And are you confident that at some point technology will be commercially available that allows physicians or whatever other providers, organizations, to come up with results in a minute or less?

Dr. Carl Wittwer: Yes. It'll happen. It has to happen because of your need, because of your desire to want things quickly. And there's no reason, once the technology has shown that you can do it, the population will drive the companies to make it available.

Interviewer: What else can we cover that you would like to, or we didn't?

Dr. Carl Wittwer: You know, most true inventions don't happen in large groups. They happen with individual people. And often they happen with individual people who don't have a lot of resources. So what that means in terms of the roll out of inventions, they usually don't happen in large companies. They happen either in small companies that are struggling to survive. Or they happen in academic labs, often small academic labs. Where someone latches on to an idea, commits themselves to it and makes it happen.

Interviewer: Which sounds like is what you did.

Dr. Carl Wittwer: Yeah, it's a lot of stubbornness. And belief in what you're doing. Even when other people don't believe in what you're doing. And believe me, they will not believe. I've had that experience.

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