Pharmacogenetics and personalized medicine is a relatively new field of research, and as of yet has stayed mostly in the realm of pharmaceutical science research, not yet moving into clinical guidelines and practice. In a review done by Brighman and Women’s Hospital of Boston, researchers investigated 3 areas of pharmacogenetics associated with prevention, diagnosis, and treatment of atherosclerosis. They assessed each area on how effective it would be to incorporate genetic information into clinical guidelines and practice, as well as if more research may need to be done to make an effective incorporation.
The 3 areas investigated included: 1) familial hypercholesterolemia (FH), 2) prediction of cardiovascular (CV) risk, and 3) genetic interactions with treatment.
FH is caused by a dominant autosomal genetic defects in low-density lipoprotein (LDL) cholesterol, or bad cholesterol, metabolism which produces unusually high amounts of LDL. Because of this genetic, determining HL status of patients via genetic analysis represents a strong case for incorporating genetic analysis into clinical care.
CV risk presents a slightly less convincing case for pharmacogenetic incorporation into clinical practice, as the risk factors for CV events are numerous, varied, and compound with many comorbidities, and not strongly genetically defined. However, with more research, this may create a stronger case for using pharmacogenetics in clinical practice.
Finally, genetic interactions with treatment has large potential utility to improve efficacy and safety of drug therapy and treatment, both in terms of pharmacodynamics and pharmacokinetics. Factors causing variance are less numerous in treatment than in CV risk, so implementing genetic information to guide clinical prescription and optimization presents an even stronger case than CV risk. It is, however, limited by the necessity to identify candidate genes which vary safety and efficacy of treatment therapies. Additional research to identify these genes will continue to increase the case to use pharmacogenetics in determining optimal treatment options.
I think that this is a good article in that it very clearly makes the connection between the research and clinical components of pharmacogenetic testing. It questions how effective pharmacogenetics would be in actually adjusting clinical practice for a number of areas for this disease state. My question is: which area analyzed by this review do you think will have the biggest impact on the emerging field of personalized medicine, and why do you believe so?