Conclusions

Metabolic diseases, such as DM, hyperlipidemia, and osteoporosis, are major health problems, responsible for significant morbidity and mortality worldwide. They represent a drain on health care resources internationally, and with the ever-increasing focus on evidence-based medicine, this is only likely to expand, with the requirement to treat a wider, asymptomatic population. DM is a heterogeneous disorder, with a multifactorial etiology. However, the understanding of the pathophysiology and genetic influence of certain specific subtypes of the disease may further our ability to utilize the tools of phar-macogenetics in the wider patient population. In the case of hyperlipidemia, cholesterol-lowering is used as an endpoint, but, more importantly, a reduction in cardiovascular disease progression, morbidity, and mortality is required. There are populations with certain genetic polymorphisms that can be identified to respond well to statin therapy, demonstrating not only a beneficial change in lipid profile but also a reduction in cardiovascular risk. The case of osteoporosis highlights the interaction between genes and environment at all levels, both in terms of physiology and pharmacology. VDR gene polymorphisms result in changes in calcium and bone homeostasis and may modify the response to anti-osteoporotic therapy, but further work is needed in this area not only in relation to the vitamin D receptor gene but also with respect to the many genes that are known to influence bone metabolism and turnover (Table 5).

In the case of metabolic disease, the current understanding of pharmacogenetics extends beyond the knowledge of genetic polymorphism and its role in drug metabolism and disposition. Indeed, these are relatively unimportant in most cases given the relatively wide therapeutic indices and favorable safety profiles of the therapies available and the relative ease of pharmacodynamic monitoring. The challenge for pharmacogenetics in the future is to establish which specific populations are most likely to respond effectively and efficiently to the drugs available. The aim is not to deny treatment to the individual but to ensure that the most appropriate drug is selected for their management—the right drug, at the right dose, and at the right cost.

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