Building towards precision medicine: empowering medical professionals for the next revolution

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.

[1]  Ashish K. Jha,et al.  Patient Engagement Remain Low In Office Settings Despite Substantial Progress In EHR Adoption , Health Information Exchange And , 2014 .

[2]  Derek Y. Chiang,et al.  MapSplice: Accurate mapping of RNA-seq reads for splice junction discovery , 2010, Nucleic acids research.

[3]  Jason H. Moore,et al.  Chapter 11: Genome-Wide Association Studies , 2012, PLoS Comput. Biol..

[4]  M. Marazita,et al.  Genome-wide Association Studies , 2012, Journal of dental research.

[5]  D. Blumenthal Launching HITECH. , 2010, The New England journal of medicine.

[6]  Wayne Hall,et al.  Direct-to-consumer genetic testing for addiction susceptibility: a premature commercialisation of doubtful validity and value. , 2012, Addiction.

[7]  A. Lucassen,et al.  Genomic medicine: challenges and opportunities for physicians. , 2012, Clinical medicine.

[8]  C. Shuman,et al.  Direct‐to‐consumer genetic testing: good, bad or benign? , 2010, Clinical genetics.

[9]  Amy L. McGuire,et al.  Personalized genomic information: preparing for the future of genetic medicine , 2010, Nature Reviews Genetics.

[10]  H. Boezen,et al.  Genome-wide association studies: what do they teach us about asthma and chronic obstructive pulmonary disease? , 2009, Proceedings of the American Thoracic Society.

[11]  A. StAteMent,et al.  Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics , 2015, Genetics in Medicine.

[12]  Gaurav Dave,et al.  Primary Care Physicians’ Awareness, Experience and Opinions of Direct-to-Consumer Genetic Testing , 2012, Journal of Genetic Counseling.

[13]  W Hersh,et al.  Clinical Informatics Fellowship Programs: In Search of a Viable Financial Model , 2015, Applied Clinical Informatics.

[14]  J. Henry,et al.  Adoption of Electronic Health Record Systems among U . S . Non-Federal Acute Care Hospitals : 2008-2015 , 2013 .

[15]  Hugo Y. K. Lam,et al.  Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes , 2012, Cell.

[16]  Amy L McGuire,et al.  Paving the Way to Personalized Genomic Medicine: Steps to Successful Implementation. , 2009, Current pharmacogenomics and personalized medicine.

[17]  M. Buntin,et al.  Variation in Electronic Health Record Adoption and Readiness for Meaningful Use: 2008–2011 , 2013, Journal of General Internal Medicine.

[18]  Viju Raghupathi,et al.  Big data analytics in healthcare: promise and potential , 2014, Health Information Science and Systems.

[19]  Amy L McGuire,et al.  The need for medical education reform: genomics and the changing nature of health information , 2010, Genome Medicine.

[20]  Jörg Schmidtke,et al.  Confidence of primary care physicians in their ability to carry out basic medical genetic tasks—a European survey in five countries—Part 1 , 2011, Journal of Community Genetics.

[21]  Helga Thorvaldsdóttir,et al.  Molecular signatures database (MSigDB) 3.0 , 2011, Bioinform..

[22]  Dimitrios H Roukos,et al.  Networks medicine: from reductionism to evidence of complex dynamic biomolecular interactions. , 2011, Pharmacogenomics.

[23]  G. Ginsburg,et al.  Personalized medicine: revolutionizing drug discovery and patient care. , 2001, Trends in biotechnology.

[24]  M. Furukawa,et al.  EHR adopters vs. non-adopters: Impacts of, barriers to, and federal initiatives for EHR adoption. , 2014, Healthcare.

[25]  Noelle Foreshaw Options… , 2010 .

[26]  Elizabeth A. Nelson,et al.  Enhancing exposure to genetics and genomics through an innovative medical school curriculum , 2011, Genetics in Medicine.

[27]  M. Furukawa,et al.  Clinical benefits of electronic health record use: national findings. , 2014, Health services research.

[28]  Lawrence Hunter,et al.  AMIA Board white paper: definition of biomedical informatics and specification of core competencies for graduate education in the discipline , 2012, J. Am. Medical Informatics Assoc..

[29]  Kelly Fryer-Edwards,et al.  The Ethical Challenges of Direct-to-Consumer Genetic Testing , 2007 .

[30]  Francis S Collins,et al.  A HapMap harvest of insights into the genetics of common disease. , 2008, The Journal of clinical investigation.

[31]  G. Ginsburg,et al.  The path to personalized medicine. , 2002, Current opinion in chemical biology.

[32]  Ashish K. Jha,et al.  Record Systems Small , Nonteaching , And Rural Hospitals Continue To Be Slow In Adopting Electronic , 2012 .