Precision medicine and metabolic bone diseases


Year: 2016

Number: 3/4


Precision medicine and metabolic bone diseases

Precision medicine can be defined as treatments targeted to the needs of individual needs on the basis of genetic, biomarker, phenotypic or psychosocial characteristics that distinguishes a given patient from other patients with similar clinical presentation [1].
A number of technological advances allowed more individualized treatments in the field of metabolic bone diseases. Characterization of the molecular defects underlying multiple endocrine neoplasia type 1,2,3 and 4, of the protein (i.e. FGF23) responsible for X-linked hypophosphatemic rickets/osteomalacia, are some examples of more refined personalized medicine.

Regarding osteoporosis, it is well known from the literature that a variable portion of patients respond poorly to pharmacological agents or develop various side effects. Therefore, researches have been carried out to go from “one-size-fits all” treatment to pharmacological therapy based on genetic biomarkers. However, even though a number of sequence variants in human genoma have been studied as a possible cause of difference in osteoporosis drug response (polymorphism of VDR, ER, LRP5, DKK1 and so on), no conclusive results have been obtained so far [2]

The era of pharmacogenetics studies in the field of osteoporosis is at its very early beginnings; however, it will be valuable to predict the effects of drugs used in osteoporosis ensuing maximum efficacy with minimal side effects. In this context, an important point to be addressed is the cost of such technological advances and the degree to which physicians will be able to apply genomic information in selecting therapy that improves our clinical care.


1) Jameson J. L., Longo D. L. Precision Medicine-Personalized, problematic, and promising. N. Engl. J. Med. 372:2229-2234, 2015.2) Marini F., Brandi M. L. Pharmacogenetics of osteoporosis. Best Pract. Res. Clin. Endocrinol. Metab. 28:783-793, 2014.3) Lyman G. H., Moses H. L. Biomarker tests for molecularly targeted therapies. The key to unlocking precision medicine. N. Engl. J. Med. 375:4-6, 2016.