Andy Faucett, M.S., the Director of Policy and Education, at Geisinger Health Systems, in Gaithersburg, Maryland, talks about a new study that dives deep into DNA to predict health risks and treat patients sooner.
Interview conducted by Ivanhoe Broadcast News in January 2017.
This is a combination of using a medical records and genomic testing to really, clearly get a crisp one hundred percent picture of other patient’s health, is that accurate?
Faucett: I would say that is our long-term goal. Mycode is a research project, so the goal of my code is to use is those electronic medical records and the genomic data to find causes for disease, find potential targets where we can prevent disease; so that is the purpose of Mycode. Now a side purpose of Mycode is to figure out how to use this in everyday healthcare. How do we use genetic testing in healthcare, how do we provide that information to back to our patients, how do we make sure the physicians understand it.
The physicians understanding, that I think is a key part, for patients to go from one doctor to the next and have to re-list the medications they are taking and it is pretty obvious that some junctures if they are not sharing information. How have physicians responded to first of all learning how to utilize this information and secondarily how to help the patient?
Faucett: The physician response has been amazing, and I think the most interesting is many physicians didn’t think they had patients at genetic risk and now that we are returning results, and they are finding, oh Mary does have a BRCA1 mutation and she has an increase for ovarian cancer. They are going, wow, I probably have some more of those in my practice and I really need to think about how I can identify them and how I can help them.
Does that come from them say, eyeballing the patient and sort of what they see on the surface?
Faucett: They are standard protocols primary based upon some family history, medical history that you would screen individuals and you would say this individual looks like they are an increase risk to have a genetic form of cancer; the difficulty is screening the current screening protocols probably only pick up about half of the people who are at risk that is one of the things we are finding out in our early research is that they are people who carry these genetics changes that we wouldn’t pick up on the current screening guidelines. We are adding additional people to the process but also clinicians are very busy. They are many, many challenges they face, especially educational wise so when they start having patients that really motivates them to understand their conditions, learn more about it and be able to help additional patients. I like to call it education that is just in time.
The patients the results of all of this? How are these results really going to help the patient in a very real bases, and again you are checking for a 76 genes, I said and 27 conditions?
Faucett: And 27 conditions, 76 genes and 27 conditions, which are all medically actionable. Now we have about twenty thousand genes, so there is a lot we are not able to interpret medically at the moment and that is the real purpose of our project is to help us understand those other nineteen thousand genes and how they might impact your care also in the past most genetic studies has been disease based, so we are looking at causes for disease. Well there are also genes that keep you healthy, there are genes that prevent some people from getting diseases; can we find in those we develop them as treatments, can we develop drugs that do those same things as those genes changes, so that is part of what this project will allow us to do. Now as far as the return of results process, what happens when an individual participates in my code, we take a blood sample, that sample the DNA is extracted, we do an XM sequence; which means we look at the most active part of the DNA that information then goes in the cloud and it is available to our scientists to interpret. Then we take the list of 76 genes and we look at the genetic results of those genes to see if there are any changes in those genes and then if there are changes in the codes, so the letters are written differently, instead of saying cat it might say c, instead of saying c-a-t it might say c-b-g. Then we check to see if that change is going to change the way the gene works, so that it could lead to either disease or an increased risk for disease.
You are right, just almost at the precipice of something that just is going to fan out just esperancely would that be fair to say?
Faucett: We think so, my personal feeling it is historically medicine primarily been, wait till you get sick and then figure out if we can make you feel better, if we can help you with that. For me one of the reasons I’m in genomics is that I think it is one of the few times we might actually be able to prevent disease, catch people before they get sick, and either slow the process down or keep it from happening.
How can patients, first of all educate themselves about genomic testing and for those who are interested once they see the story, how would they get involved in this?
Faucett: Well, I would say for patients in general there’s a lot of information on the web. A couple of resources I would recommend would be, The National Society of Genetic Counselors, would have a lot of patient friendly information, The National Institute of Health, NIH.gov website has a lot of information that can help people understand. It is only really recently that we have been able to do genetic testing really looking for the high risk genetic changes, there is a lot of director consumer testing out there that is looking for more of the low risk thing, so they modify your risk a little and that is not what we are looking for. We are looking for those things that would raise your risk substantially that really would require medical intervention.
Through the process of all of this testing and going to the cloud, once the sample is taken does it then become anonymous?
Faucett: What we do everything is coded, so once you sign up for my code in the system you are given an unique code and we have a data broker who is one of our Geisinger security experts who is the only one who can link that code to your personal information. The medical records are coded and sample and the genetic data are coded.
Let’s say I participated in the study and you have my genetic material, where does it end up; how do I know it is going to end up in a safe place?
Faucett: Well, I think the first thing that Geisinger is a trusted guardian that is one of the reasons the studies are done so well here is that people who are patients of Geisinger really trust Geisinger. We have some of the tightest security in the country we have had electronic medical records for over twenty-years. We have never had a loss of those records, so we put the same level of security in place for that and actually when we looked at the data being stored in the cloud our security experts said that is probably safer than storing it on campus.
Is Geisinger leading the charge in this genomic testing and if so how do you guys initially get on to the horse, so to speak?
Faucett: I would say we are definitely trailblazers I hope that the lessons we learn will be helpful to lots of other healthcare institutions and others as they rule it out. Basically, back in 2006, Geisinger had a scientific advisory board and they looked and they said, this is probably the perfect place to do genomics research. There has been a lot of research done in Iceland because they have a lot of medical records and they have good family histories. We like to think that central Pennsylvania might be the Iceland of the United States, what that means is that people don’t move around very much, they have large families, they live a long time so they have multiple generations and then Geisinger is an institution. It was one of the first healthcare systems to support Epic, the electronic medical records in place; and we didn’t change it. For most of our patients we have twenty years’ worth of medical records, which makes that data so much more valuable than a system that see you for a year or two because you had some condition and you were referred, so we really have people medical homes. Then I think the surprising thing we found early with Mycode is that people are really interested in helping others. When we ask people to participate most say, yes and when you talk to people and they say will this help someone else and we say we think it will, and then they say could it help my children and my grandchildren and we say yes, and then they say sign me up so and I would also say the leadership that goes with Geisinger is very forward thinking that they really are more interested in keeping people healthy and if we are going to keep you healthy; genetics is going to be apart of that.
If you had a crystal ball how long of a period of time do you anticipate before this is going to filter down really direct to patient, right now I sort of just hearing B to B as opposed to direct to patient; so maybe you could do it generationally, you spoke about grandparents, parents, parents to kids, I got a 22-year old who would be in this life, you know that kind of thing, okay?
Faucett: I actually think that the cost of genetic testing is dropping so rapidly that probably within the next five to ten years most people will have their genomes sequenced. Now that part that is not dropping as rapidly is our understanding of that information, our ability to interpret it and use it for your health so that will take another 10, 15, 20 years and that is the real importance of the study we are doing by collecting genetic information on a couple of hundred thousand people along with their medical records. We should be able to answer some of those questions quicker, we should be able to take the other nineteen thousand nine hundred and thirty genes and figure out what they mean and use them for healthcare. I really predict that somewhere within the next five to ten years, it won’t be unusual for you to have genetic testing and then I would say probably somewhere within the next 10 to 20 years it will become standard and part of care. Now one of the nice things about genetics is what we are looking at doesn’t generally change, so you could have your genome sequence once maybe shortly after birth, and then we can decide what we want to look at different time periods. In childhood we might be only interested in things that are really going to impact you in childhood as you get into your teenage years and young adult years then we have a different list of genes we are going to look at. The other thing that I think is important one of the conditions that we are looking at is familiar hypercholesterolemia, this is very high cholesterol, takes a different treatment path in what we would do for garden variety high cholesterol and untreated it can result in strokes and heart attacks in your thirties. You really need to treat it in childhood so when we find someone who has the genetic mutation putting them at an increased risk for FH what is really important is to work on getting their children tested, cause their children is going to have a fifty percent at risk for having the same change and you would actually want to begin an intervention at age seven or eight, not wait until they are thirty and they have already had damaged done. We certainly can reduce additional damage at age thirty, but if you really and to have the impact you want to go after the children; and we don’t do that now.
Is that the BB style of cholesterol as opposed to like the snowflakes size, or does that have anything to do with that?
Faucett: It is not really related to that.
If you get right down to it you guys selected the ones that you called that were medically actionable. How did you settle on those with a thousand?
Faucett: The first thing we did is the American College of Medical Genetics and Genomics created there list and actually some of our scientist were on the committee that made that list and they brought in experts, which were from around the world and basically said, what are the genes that we understand the gene itself well enough, we understand the changes that we see in that gene; cause you are going to have changes that don’t impact the gene and you need to be able to under the changes and then and where we actually have medical recommendations about how we would change patient care. They made their list and then we looked at our patient population and made a few tweaks. They were a few genes they left off because they were very rare and we said just because your rare is not a reason to leave you off, so then we made the Geisinger list, which is very familiar to very similar to the American College of Genetics and Genomics list, but we tweaked it a little bit.
Just a couple of those, if you could not a laundry list you know, three of four?
Faucett: Mostly, that on the list is BRCA 1 and 2 which produce and increase in breast and ovarian cancer, and my personal feeling is that ovarian cancer is the most important there because we still don’t have a good screening for ovarian cancer and then several genes that are related to Lynch syndrome, a familiar colon cancer, where you would want to start colon screening in the thirties than rather waiting till in the fifties and sixties.
In your opinion, what is the best thing about this entire program?
Faucett: The fact that we have made a commitment to give back to our participates. If you think back twenty years ago in research, they would research subjects, you would were doing things to them, we have changed that strategy. We are working together with them can prove healthcare for themselves and their children and their grandchildren; and also to provide any relevant information back to them. It is really changing the research pyridine, from a research subject to a research partner.
END OF INTERVIEW
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