Computerized clinical decision support is the only effective way to apply genomic variation–based guidance into clinical care because of the complexity of interpreting an individual’s data. And because an individual’s genomic data may evolve with age and other factors, electronic medical records will need to store multiple genomes. This is possible with today’s technology, but less than 2% of U.S. hospitals have fully adopted comprehensive electronic medical records, he said.
"Clearly, adoption of fully functional electronic medical records, including those that have patient-specific clinical decision support that can reason with data such as DNA variation, will be an essential feature of 21st-century health care," Dr. Masys said in an interview. "The sooner we get there, the sooner it will be easier for doctors to deal with what otherwise is an impossible task of trying to read and understand and keep up with this rapidly expanding science."
There is a risk, however, that delving into genomic data will identify numerous "incidentalomas," which will unnecessarily trigger expensive follow-up tests or misguided treatments, he said.
George Annas, J.D., chair of Health Law, Bioethics and Human Rights at Boston University, agreed and questioned whether "personalized medicine" is realistic. "At a time when the cost of health care is the No. 1 issue on the political agenda, it’s kind of bizarre that we would do something that’s the most expensive [thing to do] in medicine," he said.
Patient consent is another important issue, said Mr. Annas, citing the example of Henrietta Lacks, whose cells fueled decades of medical research without her knowledge or consent. "If people want to make their genetic information public, that’s fine with me. But to say everyone must is not the kind of country most people want to live in," he said.
Protections especially are needed for people who are unable to give informed consent, said Mark A. Rothstein, J.D., chair of law and medicine at the University of Louisville, Ky. "Those who are advocating newborn genome sequencing are throwing out long-standing policy in genetics not to test for late-onset disease," he said.
At least 25 million U.S. residents each year must sign authorizations for release of medical records to get a job or insurance or for other reasons, and adding genome data to those records could put them at greater risk. "I don’t think we’re ready for this huge onslaught of additional information, because there’s too much opportunity for misuse," he said.
Developments, such as the phenome-wide association studies at Vanderbilt, are exciting, Commissioner Nelson L. Michael noted in an interview. The human genome "is a new ‘book’ that many of us don’t know how to read very well," but this new approach to research should help translate that book, said the director of retrovirology at the Walter Reed Army Institute of Research, Bethesda, Md. "The better we are able to understand how the book is read and what it means, I think we are going to be able to translate that into clinical benefits" for a reasonable risk/benefit ratio, said Dr. Michael.
Dr. Gibbs reported being an investor in Life Technology and cofounder of the company Seq-Wright. The other speakers and commissioners did not report financial disclosures.