13 Nov Healthcare slow to adopt genetic advances
Milwaukee, Wis – Understanding our genetic makeup and predicting our predisposition to disease has advanced to the point where DNA testing services, including online versions, are available to consumers interested in shaping their own health management. Patients, however, will have to exercise patience in fully using this knowledge because most healthcare facilities are not yet capable of applying resources in a preventive manner, according to a Milwaukee software executive.
Peter Tonellato, founder and chief science officer of PointOne Systems, which is developing genetic information systems for use in healthcare practices, envisions the day when healthcare makes what he called “the major shift” from a reactive posture to a preventive one. However, he acknowledges the change won’t come fast enough for consumers exposed to glowing media accounts of the wonders of genetic-based medical care, or personalized medicine.
“There is no question that the discoveries are very valuable in terms of predicting health and moving us to more personalized healthcare and a more preventive healthcare perspective,” Tonellato said. “The real question is how quickly can the healthcare facilities adapt these new approaches and devices and change their paradigm from that kind of reactive paradigm to a more preventive paradigm?”
The concept, which has evolved from cracking the human genome, has three components: new biological methods for detecting individual genetic differences; having those differences associated with predicting the potential adverse health events an individual might face; and the crafting of health management programs based on that predisposition to disease.
For decades, rare diseases have been at the forefront of initial attempts at personalized medicine. During this period, detecting a predisposition to cystic fibrosis and other single-allele diseases – an allele is a member of a pair of genes that occupy a specific position on a chromosome – has been the domain of genetic counselors and medical geneticists.
Tonellato, who recently addressed a bioinformatics seminar titled “The Case for Personalized Medicine,” said the next wave of activity is focused in the cancer area, especially cancers that are not rare but not terribly common, either. For example, there is a great deal of focus on breast cancers that have been associated with certain genetic mutations.
“The diseases that are being addressed now, that are emerging as being important areas of personalized medicine, are those associated with a few allele interactions or alleles of importance,” he said, “which help detect those interactions, those biochemical interactions, that are probably leading to the disease, but for which there is not necessarily the analysis requiring dozens if not multi-dozens of alleles.
“Currently, we have these devices now that are focused on these, let’s call them intermediately complex diseases – not rare but not truly complex. And the more complex, typically, the come common the disease is found.”
The other major area of discovery is related to a family of genes called the P450 genes, which are associated with the metabolism of an entire spectrum of drugs that are important across a wide variety of diseases. According to Tonellato, a research professor of mathematics at Marquette University and founding director of the bioinformatics research center at the Medical College of Wisconsin, it’s not so much that a first line of medicine is evolving to address a particular disease. It’s that a particular family of genes has been identified as extremely important in the correct dosing of disease-fighting drugs.
As is the case with many groundbreaking discoveries, the genetic revolution in disease prediction carries a lot of hype. Tonellato, alluding to the so-called military-industrial complex, said there also is a scientific and medical-industrial complex, where efforts like the human genome project can be blown out of proportion. To a certain degree, he said personalized medicine has taken a hit because early on in the selling of the human genome project, there probably were too many stories about the impact on healthcare and how quickly things would happen.
Realistically, most work in this space recognized that each step along the way would require significant and time-consuming steps to go from discovery to use in the healthcare setting, Tonellato said. The reality, he added, is that generations of conservative medical practice, where the value of new products is demonstrated in a deliberate way, remains a barrier to more rapid adoption.
“There is going to be a collective kind of discussion, which is already taking place, about why aren’t these newer associations and why isn’t this newer information regarding predicting disease being used on a more day-to-day and natural basis in the healthcare industry?” Tonellato said. “I think the healthcare industry is going to have to begin to address the use of the new technologies, the individualized associations, and consequently the more predictive and therefore more personalized healthcare model.”