Personalised medicine: Not just in our genes

Institute for Clinical Research and Health Policy Studies, Tufts Medical Center, Boston, MA, USA.
BMJ (online) (Impact Factor: 17.45). 04/2012; 344(apr03 3):e2161. DOI: 10.1136/bmj.e2161
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Available from: David Kent, May 19, 2014
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    • "Personalized medicine is one of the emerging clinical models in the new millennium [1] [2] [3]. This concept, coined for describing the genetic contribution to the development of diseases and to the response to therapy, has been progressively broadened to include the influence of education, compliance, and patient preferences on the therapeutic response [4] [5]. "
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    ABSTRACT: Background Low protein diets (LPDs) are milestones in chronic kidney disease (CKD). Concerns over compliance and safety limit their use. The study was aimed at testing feasibility and main results of a multiple-choice approach to LPDs, adapted to patients’ preferences. Patients and Methods In December 2007-2012, all CKD patients (stages 4-5; progressive stage 3) without contraindications (malnutrition, short life expectancy), were offered two main LPDs (proteins: 0.6 g/Kg/day): vegan supplemented (LPD-KA) or with “aproteic” commercial food (LPD-ACF). LPDs followed a qualitative approach, based upon forbidden and allowed food; 1-3 free meals/week, and flexible control policy (1-3 months). Start of dialysis, death and combined outcome (death-dialysis) were analyzed by Kaplan-Meier curves and Cox model. Comparison with dialysis in patients with GRF<15 mL/min, (corresponding to “early” dialysis start) employed standardized mortality rates, with respect to the Italian and the United States Dialysis Registry (USRDS). Results 185 patients (222 patient-years) started at least a trial of LPD-KA, 122 (177 patients-years) LPD-ACF; only 6 patients with GFR<30 mL/min denied a LPD trial. Patients who choose LPD-KA were younger than those on LPD-ACF (63 vs 74 years) had less comorbidity (82% vs 93%), higher proteinuria (1.4 vs 0.7 g/day) and lower GFR (17 vs 23 mL/min) (p<0.001). Median protein intake was 0.7 g/Kg/day on both diets (Maroni-Mitch formula). The combined outcome (death or dialysis) was not influenced by the diet chosen (Cox analysis). Relative risk of death on the diet was 0.5 with respect to the Italian Registry and 0.3 to the USRDS. The diets had comparable costs (1 year on dialysis: 50 patient-years on LPD). Conclusions The choice of the diet is strictly linked to patients’ characteristics, thus supporting a multiple-choice offer. Once corrected for baseline data, both LPDs led to similar results, suggesting at least survival equivalence with dialysis, at lesser cost.
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    ABSTRACT: The development of genomics in the last decade opened new perspectives to fulfill the permanent ideal of therapy, namely personalization of therapy (of medicine) by using of adage: "the right drug to the right patient". The pharmacogenomics, developed in these 10 years, already permitted the identification of the patients with side drug effects risk by detection of the presence of single nucleotide polymorphisms (SNPs) from enzymatic systems implied in drugs metabolism such as CYP450. More recently, the emergence of pharmacometabonomics permitted the appreciation of the influence of the metabolic factors (and of the environment) on the genes expression. The combination of these sciences can permit a better individualization of drug therapy concerning both the genetic background of individual and exterior interventions. Actual studies seem to confirm this supposition.
    Full-text · Article · Jan 2010 · Romanian journal of internal medicine = Revue roumaine de médecine interne
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    Full-text · Article · Jun 2012 · BMJ (online)
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