domingo, 18 de marzo de 2012

How Genomic Medicine Is Changing Medical Practice

How Genomic Medicine Is Changing Medical Practice

From Medscape Medical News

How Genomic Medicine Is Changing Medical Practice

An Expert Interview With Eric J. Topol, MD

Jacquelyn K. Beals, PhD

March 13, 2012 — Editor's note: The Future of Genomic Medicine (FGM V) celebrated its fifth year with a meeting that focused on 3 major areas of genomic medicine: pharmacogenomics, rare idiopathic diseases, and cancer genomics. This year's meeting, held March 1 and 2 in San Diego, California, was the first to include a patient story from the world of genomic medicine.
In an interview with Medscape Medical News, course director Eric J. Topol, MD, director of the Scripps Translational Science Institute, chief academic officer for Scripps Health, and professor of translational genomics at The Scripps Research Institute in La Jolla, California, discusses highlights of the recent meeting, which was sponsored by the Scripps Translational Science Institute.
Medscape: Was FGM V a success?
Dr. Topol: Yes, it went to a whole other level of success. It was phenomenal! We had 470 people, a big jump in our attendance. We had to close registration because we couldn't take any more people and our overflow rooms totally overflowed! It was a massive great audience, as well as a terrific faculty.
Medscape: Has the field of genomics become more visible, or has word of your meetings gotten around?
Dr. Topol: It's a combination. We do see more genomics getting actualized into practice. But also it's our fifth meeting; it's got credibility because a lot of people talk about it.... Most every leader in the world of genomic medicine has been here at least once, and some have been here all 5 years. This year we gave our annual award to Howard Jacob, from the Medical College of Wisconsin [in Milwaukee]. He's the one who saved a boy's life, Nicholas Volker, with sequencing. We were honoring that whole effort.
February 29, the day before the program, was Rare Disease Day. Our program started March 1, and we had a whole section on rare idiopathic diseases. We started the program this year with a family with twins who were thought to have cerebral palsy. Ultimately, the children became very debilitated and underwent sequencing.
Sequencing disclosed not only the molecular defect, the coding element responsible, but also how to best treat it with a drug. It was remarkable, because the girl was having severe breathing problems, so she was in the emergency department all the time.... The teenage twins are both active in sports now, and they're leading a totally normal life.
Medscape: How did you present the diversity of viewpoints and disciplines that your meeting is known for?
Dr. Topol: This is the first time we've had a live patient story, which really took it to another level.... One of the other big areas we got into is sequencing as a commodity. When the program started 5 years ago, everything was about which sequencing platform was the best. Now our problem is not sequencing — it can be done quickly, cheaply, and relatively accurately; the problem is analyzing. That has become the big bottleneck.
There's no high-throughput mechanism to deal with this massive amount of data. Each individual who has a whole genome sequenced yields about a quarter of a trillion to a trillion data points! A lot of different groups are trying to get algorithms and software to streamline this, but at the moment it is still a work in progress. Moving to a different era is exciting; we've got all of these new things like genetic sequencers to sequence rapidly — I mean really rapidly.
Medscape: What controversies were discussed during the meeting?
Dr. Topol: I gave the keynote talk named after my book, The Creative Destruction of Medicine, which challenged everybody. Today, specimens obtained from biopsy or surgery are formalin-fixed, paraffin embedded (FFPE). In fact, FFPE ruins sequencing capabilities; it denatures everything, it ruins the samples. We've got to convince pathologists and surgical oncologists to flash freeze samples.
Genomic medicine...needs to be driven by consumers. We can only get this turned around and accelerated if we get consumers fully on board, tapping into their social networks.
Medscape: How has pharmacogenomics changed medical practice in the past 5 years?
Dr. Topol: In the pharmacogenomics session, we reviewed [clopidogrel], which is the prototype. It's pretty easy to pick up a side effect of a drug through genomics.... Every common drug should have genomic data, and every developing drug that looks like it's going to wind up in clinical use should incorporate a genomic-embedded program, so we know who the drug works on and if there are serious side effects. We should be able to predict when to preempt the use of a drug, so we don't wind up doing it through trial and error, which doesn't work very well!
Medscape: What were some of the diseases touched on in the session you cochaired on rare idiopathic diseases?
Dr. Topol: We went through developmental delays, autism, various subforms of autism, all sorts of rare metabolic diseases. Hakon Hakonarson, from the Children's Hospital Philadelphia, Pennsylvania, has an enormous collection of kids with rare metabolic disorders they're sequencing. We also have a program at Scripps called the Idiopathic Diseases of Man. It is looking at questions such as: Who do you sequence? Where is the yield highest? What do you do with the data? When you do this rare or idiopathic sequencing and find things not related to the condition that drove you to do the sequencing, do you tell the patient? Do you tell the parents?
Medscape: What are you planning for next year?
Dr. Topol: We have a genomics primer on our Web site. A lot of physicians really liked it. When they walked into the program, they felt like they were partially up to speed. We want make it much more comprehensive, fulfilling the educational mission to get physicians around the world to feel very comfortable, to have a solid footing, with their genomic knowledge. That's the goal.
Dr. Topol has disclosed no relevant financial relationships.


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