Integration of Genomics into Medical Practice Podcast Transcript

Samantha:
Hello and welcome to a CHI Podcast for the upcoming Inherited Disease Diagnostics conference, being held this August 19th through 20th in Washington DC as part of the next generation diagnostic summit. My name is Samantha Lewis and I’m the conference producer working on the meeting. Today I’m speaking with Dr. Bruce Korf, the Wayne H and Sarah Crews Family Professor of Medical Genetics, Chair of the Department of Genetics, and Director of the Heflin Center for Genomic Sciences at the University of Alabama at Birmingham. Dr. Korf if the past president of the Association of Professor of Human and Medical Genetics and of the American College of Medical Genetics and Geonomics and is currently the president of the ACMG Foundation for Genetic and Genomic Medicine. Welcome Dr. Korf and thank you for taking the time to talk to us today.

Dr. Korf:
Thank you.

Samantha:
Your talk this August discusses some of the educational challenges in Genomic medicine implementation, what was your say or your top three or so challenges in that area?

Dr. Korf:
Well, physicians who are practicing now are facing a major sea change in the practice of medicine at many, many different levels but with regards to genomic medicine I would say there are three major things that we need to face. The first that they come to the table now with very widely varying experience in genetics and genomics, most trained long before we had a human genome sequence and therefore are unfamiliar with the vocabulary and with the applications. Some who have trained more recently maybe more aware but this is such a rapidly changing field that is still unlikely that they’re ready to implement genomics into their daily practice. The first challenge is simply getting physicians up to speed and helping them to gain competency at using genomics in their practice. I think the second challenge is that we need to build a work force in genomic medicine. The practicing physician is going to need to be backed up by medical geneticist and genetic counselors who can help them to deal with the day to day opportunities in genomic medicine and there’s a significant challenge facing us in terms of building that work force. I’d say the third priority is that a lot of the education that will take place is not in the form of providing courses or other kinds of say with materials but also by embedding information about genomics into the electronic health records so that we have point of care access to information. We’re a long way I think from having the information systems in place to make that really work well.

Samantha:
You started to touched upon on this a little bit, but what would you say are the specific education needs of the physicians?

Dr. Korf:
We have to focus on the competencies that a physician should have to include genomics in their practice, so it’s not enough to say they should know this or that, that. They should know about the indication for genetic testing or they should be able to understand the concept of the nine variants versus a pathological mutation. We need to get beyond that into the specifics of what do you actually expect them to do and what kind of skills do they need to carry that out. There actually has been an effort to define a framework for these competencies. I’ve been involved in a HTRI initiative the inner society coordinating committee which brings together professional societies representing abroad just lot of medicine and we put together exactly there’s a framework for competencies in things like, family history, genetic testing, therapeutic decision making in somatic genetics like cancer several others. The idea here is to help these different groups to become aware of what are the competencies needed once that in recognize of course the real challenge is helping to instill those competencies and really I think that requires a multi pronged approach that begins at the earliest points of training which would take to be undergraduate in medical school training. We need to bring students into medical school with more experience in the fundamentals of genetics. When in medical school it needs to be embedded in their curriculum and then when they complete medical school into residency there’s opportunities to include genetics and genomics milestones in their training. Then in practicing physicians, maintenance of certification is a major opportunity to embed genetics and genomics and of course CME opportunities as well.

Samantha:
It sounds that you’ve already given a lot of thought, the best route to begin training physicians at all stages, but what do you think the framework for that would look like especially for the people who have practicing for years already? What do you think some of the challenges in getting them to those trainings?

Dr. Korf:
Well, the hard challenge I think is that there is a significant learning curve and you would take the physician that physicians should be prepared for what’s to come, so they shouldn’t be surprised by it or unprepared for it. On the other hand it’s not easy to get people to take courses on things certain which they actually are not going to take an action right away. To say to them that in the next couple of years your practice is going to change dramatically and you’re going to need to be able to deal with genomics. A little bit of a hard sell when you can’t argue to them that it’s going to be important to them tomorrow, they tend to be much more motivated to fill the gaps that they can see in their knowledge than to fill a gaps that others tell them they should be seeing. I think that’s a significant challenge, not all the same with physicians I’ve talked to are pretty well aware of the fact that something important is going on and they do definitely feel unprepared for it so I don’t think there’s a lack of interest but still you do have and up to a battle convincing them this is something they’re going to use now. Now, of course it depends on whom you’re talking too, I don’t think Pediatricians for example fail to recognize there’s a new things for example in genomic testing that today will change their practice and I think Oncologists have recognized this, neurologists see it, because these are areas that have already been affected by genomic medicine. Outside of that into say primary care for example and family medicine and maybe other areas where genomic is not quite in the mainstream, I think they’re probably going to be a little bit slower to come on board just because they don’t see it around them and nothing like feeling inadequate because you don’t know quite what to do next to motivate you to actually earn it. That’s going to come in all areas overtime but it’s going to be probably happened sooner in some than the others.

Samantha:
Do you think the patients will play a role in that? Especially in the standard practices now that more patients are becoming educated on things like their own genome and taking more control of their health care?

Dr. Korf:
Yes, I think increasingly there’s public awareness about possibilities in genomics almost any day if you look in major news papers you’ll see some kind of science article that talks about genomic or genetic testing that maybe relevant to a particular condition, and indeed physicians I think are commonly talking to patients who asked them about things they’ve read or heard about that the physician may not be entirely familiar with. There is definitely a possibility of being led by the patients as much as the physicians to educating at a kind of broad scale. I also think that patients will increasingly become more engaged in their health care in general and genomics has a general role to play in that movement, so between that those things I do expect that we’re going to see increasingly a partnership between physicians and their patients in terms of recognizing new opportunities to predict risk of disease or make a better diagnosis or even instituting more effective treatment.

Samantha:
Now, after all of these is implemented in the future, how do you see genomics being used in the clinic? Especially in areas that have less obvious applications? There’s obviously clear uses in oncology and inherit diseases but how do you see it being used elsewhere?

Dr. Korf:
It’s very much going to need to be customized to the particular area of practice, so in the broad sense I think you can imagine many different levels. I do think that family history has relevance in terms of recognizing risk this would be important for primary care provider who for example should be asking questions about risk of cancer just for example because there are both test in interventions that can be offered if there’s a family history of cancer. I think that will change I think if you’re faced with the diagnostic dilemma, increasingly the ability to do genetic and genomic testing up to and including sequencing of a genome will be a very feasible and affordable and available approach to attempting to answer that question. This is an area where diagnostics are going to be dramatically altered and that’s already did it, I think a pretty significant force in pediatrics for rare disease. I think farmer go genetics will be increasingly mainstreamed and here I don’t think that physicians are going to consciously either order farmer go genetic testing or directly interpreted by [bedders 0:09:25] that is going to be embedded in the background in electronic prescribing systems where if they want to put somebody on a medication which there’s an important farmer go genetic test with that it would change dosage let’s say or change twice the medicine. There will be a kind of internal prompt either to do the test or they’ll just draw on information already in the system and make a recommendation regarding either the dosage or the twice of medication. I’m not sure how much of this is what physicians have to know and how much of it just going to happen behind the scenes but physicians at least will start to realized that this is occurring. It’s possible that we’ll have some degree of risk assessment in predictive medicine for common disease, I’m not certain to what extent that’s going to become mainstream because it looks like the contributors to common disease are pretty complex and it’s nothing that easy to dissect out in most cases in risk factors that have a very powerful predictive value but overtime just may evolved. I do think we’re going to probably see genomics at least being used in differential diagnosis, so somebody who has a symptom and you want to know of all the many things it could be which one is it? Genomic testing may help push the differential diagnosis in one direction or another. I think a lot of these things will gradually be use some sooner than others, in cardio vascular medicine, cancer, neurology differential diagnosis is already substantially informed by genomic testing and I think that kind of paradigm is likely to become more and more widespread.

Samantha:
Excellent, well thank so much Dr. Korf for taking the time to speak with us today.

Dr. Korf:
Okay thank you.

Samantha:
Once again this has been a CHI Podcast with Dr. Bruce Korf of the University of Alabama at Birmingham. You can hear more from Dr. Korf as well as other leading genetics researches this August in Washington D.C.