The Genetic Component of the Physician's Armamentarium: Is the Healthcare Industry Ready?

The medical record of the future will likely include a prognostic genetic component that will have short- and long-term implications, according a panel of genetic experts and government leaders who presented at the American Heart Association (AHA) Scientific Sessions.

In a session titled “Looking Into a Crystal Ball: The Future of Genetics and Genomics,” Jennifer Hall, PhD, FACC, FAHA, University of Minnesota, spoke about the future of genetics in terms of its practical application and how it will impact various stakeholders. The healthcare industry may not be ready for “the genomic age,” according to Dr Hall. “DNA is getting a lot of play,” she said. “As leaders, we need to be clear; for example, what are the metrics and the opportunity and the social implications?” In order to be able to capture the genetics information, a new understanding of data collection will be required. Also, there are still issues related to confidentiality and costs, she told attendees.

Dan Roden, MD, assistant vice-chancellor for personalized medicine and professor of medicine and pharmacology, Vanderbilt University, stated that genetics has already defined risk patterns for other cardiovascular diseases, such as long QT syndrome, as well as for certain cancers. He agreed with Dr Hall that the impact will be felt by physicians. The physician will need to have the resources to keep up with the meteoric pace of genomics clinical research and drug development as new genetic therapies become available.

Another panelist, Gary H. Gibbons, MD, director of the National Heart, Lung, and Blood Institute, said that cost is a big factor in genetics. “We need to lower cost,” he said. “The message [should be] that this is not just another expensive new toy.” Genetic testing is not new, and there have been some disappointments. Identification of the causal gene does not necessarily lead to improvements in care. As an example, he mentioned the knowledge base with regard to genes in sickle cell disease, for which “there are no good therapeutic options.” However, advances in genotyping have paid off in the area of cardiovascular disease. Dr Gibbons referred to the significant epidemiological contributions from the Framingham Heart Study, which identified important key risk factors (eg, smoking, elevated cholesterol). “As thought leaders, we should be a catalyst and turn discovery into something tangible and figure out how to engage patients,” said Dr Gibbons.

A separate presentation focused on a specific biomarker, proprotein convertase subtilisin kexin type 9 serine protease (PCSK9), which plays a key role in cholesterol homeostasis. Christopher Cannon, MD, director of the cardiovascular division, Brigham and Women’s Hospital, and lead author in the Trial-Thrombolysis In Myocardial Infarction (TIMI) study group, explained that PCSK9 plays a role in degradation of LDL receptor expression. Clinical data have been promising and suggest that using this biomarker results in substantial clinical improvements over the standard of care. As more genetic targets are discovered, it may be possible to thwart diseases such as hyperlipidemia through earlier interventions. “We may be able to eliminate high cholesterol as a risk factor—and that is kind of amazing,” said Dr Cannon.

According to Joseph Loscalzo, MD, PhD, chairman of the AHA’s Scientific Oversight Group, the key to genomics is to be able to translate it to disease outcomes and make it affordable. More data are needed, however. In a press briefing, he spoke about a new initiative, “Heart Studies v2.0,” a collaboration between the AHA, the University of Mississippi, and Boston University. It will provide a “biobank” of population data from the Jackson, MS, and Boston area hospitals. The Jackson Heart Study began in 2000 and “is one of the longest running studies to focus on the genetic factors linked to heart disease.” The goal is to use population data from a diverse gene pool to seek new biological and genetic risk factors. Dr Loscalzo estimated the cost per patient for genetic sequencing to be approximately $1000. However, as with many technological advancements, the cost could go down as the technology improves.