Eric Topol, chief academic officer of Scripps Health and professor of genomics at the Scripps Research Institute, is the host of this week's Future of Genomic Medicine Conference. Dedicated to spurring adoption of genomic and technological advances that would bring individualized medicine into clinical practice, the meeting takes place in San Diego, Calif., March 7-8 and features many of the field's leaders including several representing New York Genome Center Institutional Founding Members.
A cardiologist by training, Topol has authored countless publications including last year's highly praised book, The Creative Destruction of Medicine: How the Digital Revolution Will Create Better Healthcare. In addition to many distinguished scientific and industry honors, Topol was one of the first researchers to be named a Rock Star of Science.
NYGC contributor Joyce Gramza spoke with Topol about the highlights and goals of the Future of Genomic Medicine Conference. In part 2 of the interview, to be posted here next week, Topol shares his views on the future of medicine about how the digital revolution will create better healthcare.
Let's start with a preview of the event you're hosting in San Diego this week.
This is our 6th annual Future of Genomic Medicine Conference. Our first one was back in 2007 and a lot of people then were thinking there was no future of genomic medicine. Now we can’t even accommodate the well over 500 people who want to come. We bring leaders of the field from all over the country, and we’re pleased to have Eric Schadt from Mount Sinai in New York and others to talk about how can we can take the genomics of today and change the way medicine is practiced. No longer are we just talking about sequencing for research purposes. Rather, we’re talking about taking these formidable, impressive tools and really changing the day-to-day care of patients.
What are the major technologies facilitating bringing genomics to the bedside?
The big one, center stage, is whole genome sequencing. It isn’t just that you can do whole genome sequencing and that it’s becoming very quick and relatively inexpensive, but rather how it’s being applied: For coming up with therapies that are truly directed to mutations causing cancer; to see during a fetus's first eight weeks whether or not there are any significant birth defects or newborn conditions to be anticipated; and for individuals who have no diagnosis even though they have a very serious illness. Those “we don’t know” diagnoses are going to start falling by the wayside because of genome sequencing. [We will see] tremendous illumination of health and diseases through the use of sequencing.
What are the main things your center at Scripps is doing to bring genomics to the clinic?
We’ve been working on this quite a bit. Back in 2008, we were, I think, the first center in the U.S. to do routine genotyping to predict plavix/clopidigrel responses in patients undergoing stenting. We have an active cancer program. For patients diagnosed with cancer, we sequence their tumor, sequence their germ-line DNA to find out what are the driver mutations, and try to help with designing the appropriate, precise treatment.
We have a program called IDIOM, which is Idiopathic Diseases Of Man, where we are taking families where an individual in a family has this unknown, serious illness, sequencing that individual as well as the other family members, to crack the case, and hopefully in some individuals, coming up with a definitive treatment.
We also have put a tremendous effort into studying healthspan here. We have accumulated 1,400 individuals whose average age is 89, ranging up to 106, who have never been sick in their life, who are on no medications. We’re doing whole genome sequencing of all of these individuals. We have 600 of them done now, and we’re studying the genomics of healthspan. We think this Wellderly study (due out later this year) is also going to be important and useful as a new human reference genome for health, which we don’t have right now.
With regard to the Idiopathic Diseases of Man program, I noticed that "Patient/Family #1" is first on the agenda for the FOGM13 conference. Will a patient actually be speaking?
Our first patient in the program is a 15-year-old girl, Lilly Grossman. Her parents are going to present her case, and then we’re going to discuss it and her physician who is a champion for the patient, is also going to be there. And then we’re going to take questions from the audience, and we’ve got 500 inquisitive people there who are undoubtedly going to have a lot of questions.
Lilly has a very significant neurologic condition which has never been diagnosed, despite extensive workup—an iconoclastic diagnostic odyssey, as it's called. She’s got a profound neurologic disturbance. She’s cognitively, mentally sharp and intact, but she is pretty much confined to a wheelchair. There is severe tremor, inability to sleep, a lot of speech issues, a lot of different neurologic problems that we’ve had some success in alleviating.
We have sequenced her as well as her parents, we know some of the causal mutations, we have had medications prescribed related to that, she has had a partial response, which is gratifying. It would be nice if she could get a full response, but I think the realistic expectation is, if you know what’s causing an illness, at least you can start to chip away at some of the significant symptoms, and that’s going to be presented.
Have you put a name to a diagnosis yet?
There’s no name for it. It’s a mutation.
Increasingly, diagnoses are not going to be diagnoses, they’re going to be identified mutations?
They are molecular diagnoses. Some of that sequence might be presented [at the conference], but we’re more trying to convey the voice of the patient, which is not emphasized enough in medical conferences. So we’re trying to talk about what it was like for this family to have the sequencing done and if they had any change from the knowledge of the sequencing. We’re much more focused on getting the conference underway with that as the first segment, rather than getting into the nitty-gritty of the molecular diagnosis.
Are genetic and genomic testing having immediate impact on practices?
There could be a lot more impact on practices if we had a lot more forward-thinking, receptive, open attitude towards incorporating genomics. Most things, like the drug-DNA testing, are not getting into the care of patients, and that’s what our conference tries to emphasize: not pure research, but research that’s ready for routine care of patients.
If you had to pick just one main message that you want this conference to get out to both physicians and patients, what would it be?
This is the most exciting time in medicine. But it also entails a major shake-up, and let’s get rolling here. Let’s do everything we can to adopt these tools and properly test and validate them and get medical care prevention to another level, which sure isn’t there right now.
See the nygenome blog's ongoing coverage of Bringing Genomics to the Bedside here.
Follow the Future of Genomic Medicine meeting on Twitter this week at hashtag #FOGM13.
And check back next week for part 2 of our interview with Eric Topol about How The Digital Revolution Will Create Better Health Care.
Joyce Gramza is an award-winning journalist based in Central New York. A graduate of New York University's Science, Health & Environmental Reporting Program, she has 20 years' experience in local and national print, Web, radio/podcast and TV/video. Her beat specialties are genetics & genomics, and neuroscience & mental health. She is a die-hard dog lover.