About the Journal

Rationale for a new precision medicine journal. 

Precision medicine is a framework for the practice of medicine that contrast with Modern Western Medicine (see Primer). Modern Western Medicine is a top-down, population based approach built on the Germ Theory of disease (one agent causes diseases with complex features, as in infectious diseases). Precision Medicine embraces insights from Modern Western Medicine but takes a bottom-up approach starting with the patient’s genetic code, with multiple variants integrated into dynamic, predictive models. A major challenge is the many unknown variables that are inherent or stochastic and unpredictable. Thus, precision medicine is primarily used for sorting out the differential diagnosis of a complex syndrome, early diagnosis, prognosis and likely complications of disorders that have already generated signs and symptoms of disease. (Note: Pharmacogenetics is a form of precision medicine focusing on genetic variants altering drug metabolism or actions. Precision oncology focuses on tumor genetics, to a greater extent than germ line genetics)

Physicians Hate Genetic Reports.

Combinations of genetic variants in a subject remain the central determinant of true personalized medicine. However, physicians and healthcare providers are typically trained only in Mendelian Genetics. This focuses on “pathogenic” genetic variants that are so damaging that they cause stereotypic disorders in an autosomal dominant, autosomal recessive, sex-linked, or additive pattern. But for most diseases, Mendelian etiologies account for less than 5% of cases within a disease category. The majority of cases have a complex, multi-genic contribution of genetic risk, where individual variants are neither sufficient nor necessary to cause disease! In these cases Precision Medicine paradigm is needed since sophisticated models are required to organize all variables and determine the integrated effects.  But healthcare providers have minimal training in precisions medicine and modeling, and even if they can do the analysis, the conclusions and applications are too complex for anyone to memorize since every patient is different! Importantly, in many cases the results of a proper analysis can be central to optimal patient management. Thus, a major gap in knowledge continues to exist. New tools are needed!

 

SMART-MD Journal of Precision Medicine.

How can physicians, healthcare providers and patients understand the impact of complex genetic risks and variable disease features from current genetics reports?  What do they do with results that are not easily translatable? The translational barrier is even more complicated since a genetics company cannot tell the doctor what to do! 

SMART-MD Journal of Precision Medicine is designed to be read by physicians. The articles are designed to be used as clinical decision support tools (CDS) and therefore used to help guide the management and treatment for patients with complex chronic medical conditions.  This is important, as these conditions represent >90% of the >$4 trillion healthcare expenditure in the USA – and where breakthrough approaches are desperately needed. 

In this new journal specific articles, or key elements of these published, peer-reviewed papers are structured and linked to various codes and classifiers to that the best CDS information can be pulled from SMART-MD resources and presented to the healthcare provider, at the point of care, in real time.  Thus, precision medicine reports that subscribe to SMART-MD services do NOT tell the clinician what to do… it links them to what an Expert says that they would do, given a patient that is like the one in the report.

 

The Future

SMART-MD Journal of Precision Medicine is therefore not a super-specialized esoteric journal for the elite, it is a practical and enabling journal for practicing healthcare providers who want to be a generation beyond the status quo.