Panel: Your genome will be part of your electronic medical record

A major goal for genomics scientists is the integration of the gene into healthcare information technology.

"The vision, as we see it, is that the genome is really a component of the patient’s electronic medical record," said GenomeQuest acting CEO Richard Resnick during a panel discussion about the future of genetic science yesterday at Harvard Medical School’s World Health Forum in Boston.

GenomeQuest, a whole-genome analysis application developer, yesterday announced a collaboration with the Beth Israel Deaconess Medical Center’s pathology department. Under the program, the hospital’s doctors will have access to the company’s predictive medicine tools and will co-develop healthcare IT systems that include genomic information.

Healthcare IT is already heading in the direction of biomarker-based medicine, argued Scientia Advisors managing partner Harry Glorikian.

If a patient has positive or negative results for a particular test, there are already alarms built into healthcare IT applications that warn doctors about how certain treatments could affect the patient, Glorikian told MassDevice.

"If that’s not directing the practice of medicine, I don’t know what is," he said. "It’s supposed to be a guideline. It’s not etched in stone, but if you do something that it says you shouldn’t, ‘What was you medical rational for doing that?’" he asked.

There is also a shift in the development of drugs, according to Glorikian. Some drug companies are no longer searching for blockbuster drugs and have started to trend towards personalized medicine based on individual biomarkers.

The idea is that a patient has a certain biomarker and therefore a specific drug is appropriate for them, he said. Insurance companies are also changing their coverage of drugs based on their linkage to biomarkers, Glorikian added.

Drug companies’ decision to develop personalized pharmaceuticals is economically driven more than anything else, he said, mentioning Pfizer Inc. (NYSE:PFE), Novartis AG (NYSE:NVS), Eli Lilly & Co. (NYSE:LLY), Sanofi-Aventis SA (NYSE:SNY) and AstraZeneca plc (NYSE:AZN) as companies that have begun talking about it. They want to go after smaller, medium-sized markets so that they "don’t get slammed when something comes off patent, because that cliff is huge," Glorikian said.

The Food & Drug Administration has already approved more than 30 drugs with “biomarker guidelines for treatment,” according to Resnick.

"In the next two or three years, you’ll really see the proof in the pudding. Who’s actually doing what. Because it’s one thing to talk about it," said Glorikian. "It’s a little bit harder," and "doctors don’t like it, but if you look at the way health IT systems are being designed, that’s the direction it’s going," he said.

And that’s only the beginning. If the goal is to introduce genomic information into electronic health records, an entire industry — and a new set of ethical quandaries — are about to change the way healthcare is practiced.

"In the future, diagnostic tests will not be characterized by a set of reagents, but really software filters placed on whole genome data," Harvard Medical School biomedical informatics professor Dr. Mark Boguski told MassDevice.

"Rather than working on developing molecular diagnostics that are based on individual technology platforms a reagent sets, it will a common exercise in algorithm development and software filters placed on whole genome-transcriptive data. That’s what we’re going to be co-developing with Genomequest," he said.

Consumers can go directly to a company and get their genome sequenced.

"We feel we’re putting laboratory medicine specialists back in the loop, which is a good thing," Boguski said. "I think it’s going to be well received by the payors if patients are going out and getting their own genomes done and then showing up at their doctors office.

"If you integrate [that] into established workflows in clinical pathology, we don’t have to invent anything new to handle that. It’s just a question of working with the regulators to make sure their are adequate quality standards, that it’s all HIPAA-compliant and so forth," he said.