Wouldn’t it be great to do a laboratory test on a specimen from an adult male or female of any age with a family history of adult onset diabetes and be able to predict when the diabetes is likely to occur? Of course, the lab would have to provide a forecast chart based on various rates of carbohydrate consumption. This would allow the person to plan his/her diet with a goal toward delaying the onset of diabetes or avoiding it altogether.
Better yet, could we not benefit from identifying an individual’s heart attack and stroke risk factors based on genomic analysis? We would be able to predict the occurrence of such catastrophic events based on how various individuals respond to risk factor exposure such as obesity, cigarette smoking, sedentary life style, consumption of animal fats and the like.
Of course, the outcome would still depend on the individual’s behavior, but if preventive medicine providers could identify those with the genetic predispositions to various chronic diseases, they would know exactly what to prevent. Currently, a PM practitioner can evaluate a person’s life style and family history and give advice on what needs changing to achieve optimum health. But that advice is pretty much the same for everybody and most people disregard such recommendations as lacking sufficient specificity to provide strong enough motivations for behavioral changes. But if the practitioner can approach the client with the results of an RNA/DNA analysis saying something like, “You need to reduce your low-density cholesterol intake and perform aerobic exercise for at least one hour three times per week to avoid a massive heart attack in 12.5 years,” I believe that this would have a life-altering impact.
Accordingly, I have searched the internet for some clues as to the current state-of-the-art in molecular diagnostics to see if we have anything available to begin improving the outcomes of our disease prevention efforts. It seems we now have a new medical buzz-word on Wikipedia called, “personalized medicine.” This cyber publication defines personalized medicine as “a medical model emphasizing in general the customization of healthcare, with all decisions and practices being tailored to individual patients in whatever ways possible. Recently, this has mainly involved the systematic use of genetic or other information about an individual patient to select or optimize that patient’spreventative and therapeutic care.” [http://en.wikipedia.org/wiki/Personalized_medicine]
Wikipedia also provides a summary of potential uses for the new technology: “Advances in a number of molecular profiling technologies, including proteomic profiling, metabolomic analysis, and genetic testing, may allow for a greater degree of personalized medicine than is currently available. Information about a patient’s proteinaceous, genetic and metabolic profile could be used to tailor medical care to that individual’s needs. A key attribute of this medical model is the development of companion diagnostics, whereby molecular assays that measure levels of proteins, genes or specific mutations are used to provide a specific therapy for an individual’s condition by stratifying disease status, selecting the proper medication and tailoring dosages to that patient’s specific needs. Additionally, such methods can be used to assess a patient’s risk factor for a number of conditions and tailor individual preventative treatments.”
Roche Laboratories, one of the leading providers of DNA diagnostic testing suggests that the biggest obstacle to incorporating the use of this new technology is the lack of knowledge within the community of primary care physicians world-wide. They state that primary care practitioners are woefully ignorant of basic human genomics to appreciate the value of the new tools that are currently available. On the other hand, the current literature is lacking information on when to order a patient’s proteinaceous, genetic and metabolic profile and how to use the results to help the patients achieve their health related goals. [http://www.genomeweb.com/dna-diagnostics-do-docs-know-what%E2%80%99s].
Since the FDA approved the use of the AmpliChip CYP450 in 2005, increasing numbers of primary care providers have been able to send a DNA specimen (saliva swab) to a laboratory that has the new Roche technology to determine the individuals rate of metabolism of numerous classes of drugs such as, anti-depressants, anti-psychotics, anti-arrhythmics, beta-blockers, pain medications, anti-emetics, and some anti-cancer drugs, to name a few. The PCP would then know what dosages to prescribe specific to that individual to maintain a therapeutic blood level. People who metabolize more slowly need smaller dosages that those who metabolize a drug more rapidly.
Such pharmacogenomic testing, unfortunately is not yet part of mainstream medicine because it’s not covered. The Centers for Medicare and Medicaid Systems (CMS) claims that there is insufficient evidence that such testing improves outcomes. Of course, we the people get stuck in a catch 22 because if we don’t use the technology, how will we ever show improved outcomes? Also, since we don’t have any real statistics on the injury caused by recommended dosages being too high in some and too low in others, how will we ever be able to study the outcome of using genome profiling to tailor dosages? The CMS policy wonks need to use basic logic to conclude that taking the uncertainty out of prescribing dosages would have enormous benefit both personally and economically. Ah, but that would be like asking a mule not to be stubborn. How can we ever expect the decision makers at CMS to pay for a technology that would save lives and reduced the cost of health care?
In summary, PCP’s need to learn about molecular diagnostic technology and follow new developments as they are presented in the literature. The professional associations should begin running symposiums on how to integrate this enormous technological advance into mundane medical practice to increase efficacy of prevention and improve patient safety, We already have the technology to eliminate the guess work of prescribing dosages, knowing that manufacturer-recommended amounts are too high or too low for about 30% of patients. Unfortunately, most people don’t have the means to pay to utilize tools like Roche’s AmpliChip CYP450. CMS refuses to cover this invaluable tool for patient safety and the private health insurance industry always follows suit. Hence, millions of people continue to suffer injury and death from being over or under-medicated.