Abstract
A new paradigm in disease classification, diagnosis and treatment is rapidly approaching. Known as precision medicine, this new healthcare model incorporates and integrates genetic information, microbiome data, and information on patients’ environment and lifestyle to better identify and classify disease processes, and to provide custom-tailored therapeutic solutions. In spite of its promises, precision medicine faces several challenges that need to be overcome to successfully implement this new healthcare model. In this paper we identify four main areas that require attention: data, tools and systems, regulations, and people. While there are important ongoing efforts for addressing the first three areas, we argue that the human factor needs to be taken into consideration as well. In particular, we discuss several studies that show how primary care physicians and clinicians in general feel underequipped to interpret genetic tests and direct-to-consumer genomic tests. Considering the importance of genetic information for precision medicine applications, this is a pressing issue that needs to be addressed. To increase the number of professionals with the necessary expertise to correctly interpret the genomics profiles of their patients, we propose several strategies that involve medical curriculum reforms, specialist training, and ongoing physician training.
Highlights
On January 20, 2015 as part of his State of the Union Address, President Obama announced the Precision Medicine Initiative, a program backed by $215 million aimed at initiating a paradigm shift for modern medicine [1]
With the reliance of some DTC tests on Genome-wide Association Studies (GWAS) to provide an estimate of increased or decreased risk for particular conditions based on specific genetic variants, careful interpretation of the odds ratio and the effect size is paramount to properly inform a patient about the actual magnitude of the risk [22]
Returning to the four components identified as elements for a successful integration of precision medicine, we focus our suggestions for avoiding these pitfalls on the people component
Summary
On January 20, 2015 as part of his State of the Union Address, President Obama announced the Precision Medicine Initiative, a program backed by $215 million aimed at initiating a paradigm shift for modern medicine [1]. Identified as Direct-to-Consumer (DTC), these genetic tests help provide a window into what a precision medical model might look like in the very near future. With the reliance of some DTC tests on Genome-wide Association Studies (GWAS) to provide an estimate of increased or decreased risk for particular conditions based on specific genetic variants, careful interpretation of the odds ratio and the effect size is paramount to properly inform a patient about the actual magnitude of the risk [22].
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
