Precision medicine

Precision medicine (PM) is a medical model that proposes the customization of healthcare, with medical decisions, treatments, practices, or products being tailored to the individual patient. In this model, diagnostic testing is often employed for selecting appropriate and optimal therapies based on the context of a patient’s genetic content or other molecular or cellular analysis.[1] Tools employed in precision medicine can include molecular diagnostics, imaging, and analytics.[2][3]

Relationship to personalized medicine

In explaining the distinction from a similar common term of personalized medicine, the National Research Council explains:

Precision Medicine refers to the tailoring of medical treatment to the individual characteristics of each patient. It does not literally mean the creation of drugs or medical devices that are unique to a patient, but rather the ability to classify individuals into subpopulations that differ in their susceptibility to a particular disease, in the biology or prognosis of those diseases they may develop, or in their response to a specific treatment. Preventive or therapeutic interventions can then be concentrated on those who will benefit, sparing expense and side effects for those who will not. Although the term 'personalized medicine' is also used to convey this meaning, that term is sometimes misinterpreted as implying that unique treatments can be designed for each individual.[2]

On the other hand, use of the term "precision medicine" can extend beyond treatment selection to also cover creating unique medical products for particular individuals—for example, "...patient-specific tissue or organs to tailor treatments for different people."[4] Hence, the term in practice has so much overlap with "personalized medicine" that they are often used interchangeably.[5]

Scientific basis

Precision medicine often involves the application of panomic analysis and systems biology to analyze the cause of an individual patient's disease at the molecular level and then to utilize targeted treatments (possibly in combination) to address that individual patient's disease process. The patient's response is then tracked as closely as possible, often using surrogate measures such as tumor load (v. true outcomes, such as 5 year survival rate), and the treatment finely adapted to the patient's response.[6][7] The branch of precision medicine that addresses cancer is referred to as "precision oncology".[8][9] The field of precision medicine that is related to psychiatric disorders and mental health is called "precision psychiatry." [10][11]

Inter-personal difference of molecular pathology is diverse, so as inter-personal difference in the exposome, which influence disease processes through the interactome within the tissue microenvironment, differentially from person to person. As the theoretical basis of precision medicine, the "unique disease principle"[12] emerged to embrace the ubiquitous phenomenon of heterogeneity of disease etiology and pathogenesis. The unique disease principle was first described in neoplastic diseases as the unique tumor principle.[13] As the exposome is a common concept of epidemiology, precision medicine is intertwined with molecular pathological epidemiology, which is capable of identifying potential biomarkers for precision medicine.[14]


The ability to provide precision medicine to patients in routine clinical settings depends on the availability of molecular profiling tests, e.g. individual germline DNA sequencing.[15] While precision medicine currently individualizes treatment mainly on the basis of genomic tests (e.g. Oncotype DX[16]), several promising technology modalities are being developed, from techniques combining spectrometry and computational power to real-time imaging of drug effects in the body.[17] Many different aspects of precision medicine are tested in research settings (e.g., proteome, microbiome), but in routine practice not all available inputs are used. The ability to practice precision medicine is also dependent on the knowledge bases available to assist clinicians in taking action based on test results.[18][19][20] Early studies applying omics-based precision medicine to cohorts of individuals with undiagnosed disease has yielded a diagnosis rate ~35% with ~1 in 5 of newly diagnosed receiving recommendations regarding changes in therapy.[21]

On the treatment side, PM can involve the use of customized medical products such drug cocktails produced by pharmacy compounding[22] or customized devices.[23] It can also prevent harmful drug interactions, increase overall efficiency when prescribing medications, and reduce costs associated with healthcare.[24]

Artificial intelligence in Precision Medicine

Artificial intelligence is providing paradigm shift toward precision medicine.[25] Machine learning algorithms are used for genomic sequence and to analyze and draw inferences from the vast amounts of data patients and healthcare institutions recorded in every moment.[26] AI techniques are used in precision cardiovascular medicine to understand genotypes and phenotypes in existing diseases, improve the quality of patient care, enable cost-effectiveness, and reduce readmission and mortality rates.[27]

Precision Medicine Initiative

In his 2015 State of the Union address, U.S. President Barack Obama stated his intention to fund an amount of $215 million[28] to the "Precision Medicine Initiative" of United States national.[29] A short-term goal of the Precision Medicine Initiative was to expand cancer genomics to develop better prevention and treatment methods.[30] In the long-term, the Precision Medicine Initiative aimed to build a comprehensive scientific knowledge base by creating a national network of scientists and embarking on a national cohort study of one million Americans to expand our understanding of health and disease.[31] The Mission Statement of the Precision Medicine Initiative read: "To enable a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together toward development of individualized treatments".[32] In 2016 this initiative was renamed "All of Us" and an initial pilot project had enrolled about 10,000 people by January 2018.[33]

What are the benefits of Precision medicine ?

Precision medicine helps health care providers better understand the many things — including environment, lifestyle, and heredity — that play a role in a patient's health, disease, or condition. This information lets them more accurately predict which treatments will be most effective and safe, or possibly how to prevent the illness from starting in the first place. In addition  benefits are

-shift the emphasis in medicine from reaction to prevention

-predict susceptibility to disease

-improve disease detection

-preempt disease progression

-customize disease-prevention strategies

-prescribe more effective drugs

-avoid prescribing drugs with predictable side effects

-reduce the time, cost, and failure rate of pharmaceutical clinical trials

-eliminate trial-and-error inefficiencies that inflate health care costs and undermine patient care

See also


  1. Lu YF, Goldstein DB, Angrist M, Cavalleri G (July 2014). "Personalized medicine and human genetic diversity". Cold Spring Harbor Perspectives in Medicine. 4 (9): a008581. doi:10.1101/cshperspect.a008581. PMC 4143101. PMID 25059740.
  2. Timmerman, Luke (4 February 2013). "What's in a Name? A Lot, When It Comes to 'Precision Medicine'". Xconomy.
  3. Jones DT, Banito A, Grünewald TG, Haber M, Jäger N, Kool M, et al. (August 2019). "Molecular characteristics and therapeutic vulnerabilities across paediatric solid tumours". Nature Reviews. Cancer. 19 (8): 420–438. doi:10.1038/s41568-019-0169-x. PMID 31300807.
  4. LAT Brand Publishing (23 February 2015). "Changing medicine with 3-D bioprinting, where organs can be synthesized by technology".
  5. "N-of-One: Tailored Clinical Molecular Test Interpretation".
  6. Blau CA, Liakopoulou E (January 2013). "Can we deconstruct cancer, one patient at a time?". Trends in Genetics. 29 (1): 6–10. doi:10.1016/j.tig.2012.09.004. PMC 4221262. PMID 23102584.
  7. Tavassoly I, Hu Y, Zhao S, Mariottini C, Boran A, Chen Y, et al. (August 2019). "Genomic signatures defining responsiveness to allopurinol and combination therapy for lung cancer identified by systems therapeutics analyses". Molecular Oncology. 13 (8): 1725–1743. doi:10.1002/1878-0261.12521. PMC 6670022. PMID 31116490.
  8. Garraway LA, Verweij J, Ballman KV (May 2013). "Precision oncology: an overview". Journal of Clinical Oncology. 31 (15): 1803–5. doi:10.1200/jco.2013.49.4799. PMID 23589545.
  9. Shrager J, Tenenbaum JM (February 2014). "Rapid learning for precision oncology". Nature Reviews. Clinical Oncology. 11 (2): 109–18. doi:10.1038/nrclinonc.2013.244. PMID 24445514.
  10. Fernandes BS, Williams LM, Steiner J, Leboyer M, Carvalho AF, Berk M (April 2017). "The new field of 'precision psychiatry'". BMC Medicine. 15 (1): 80. doi:10.1186/s12916-017-0849-x. PMC 5390384. PMID 28403846.
  11. Fernandes BS, Berk M (June 2017). "Staging in bipolar disorder: one step closer to precision psychiatry". Revista Brasileira de Psiquiatria. 39 (2): 88–89. doi:10.1590/1516-4446-2017-3902. PMID 28591270.
  12. Ogino S, Lochhead P, Chan AT, Nishihara R, Cho E, Wolpin BM, et al. (April 2013). "Molecular pathological epidemiology of epigenetics: emerging integrative science to analyze environment, host, and disease". Modern Pathology. 26 (4): 465–84. doi:10.1038/modpathol.2012.214. PMC 3637979. PMID 23307060.
  13. Ogino S, Fuchs CS, Giovannucci E. How many molecular subtypes? Implications of the unique tumor principle in personalized medicine. Expert Rev Mol Diagn 2012; 12: 621-628.
  14. Ogino S, Lochhead P, Giovannucci E, Meyerhardt JA, Fuchs CS, Chan AT (June 2014). "Discovery of colorectal cancer PIK3CA mutation as potential predictive biomarker: power and promise of molecular pathological epidemiology". Oncogene. 33 (23): 2949–55. doi:10.1038/onc.2013.244. PMC 3818472. PMID 23792451.
  15. Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, Dewey FE, et al. (May 2010). "Clinical assessment incorporating a personal genome". Lancet. 375 (9725): 1525–35. doi:10.1016/s0140-6736(10)60452-7. PMC 2937184. PMID 20435227.
  16. "Oncotype DX: Genomic Test to Inform Breast Cancer Treatment". 2019-06-13.
  17. Precision Medicine: Harnessing the Extraordinary Growth in Medical Data for Personalized Diagnosis and Treatment
  18. Huser V, Sincan M, Cimino JJ (2014). "Developing genomic knowledge bases and databases to support clinical management: current perspectives". Pharmacogenomics and Personalized Medicine. 7: 275–83. doi:10.2147/PGPM.S49904. PMC 4175027. PMID 25276091.
  19. Ashley EA (June 2015). "The precision medicine initiative: a new national effort". JAMA. 313 (21): 2119–20. doi:10.1001/jama.2015.3595. PMID 25928209.
  20. Ashley EA (August 2016). "Towards precision medicine". Nature Reviews. Genetics. 17 (9): 507–22. doi:10.1038/nrg.2016.86. PMID 27528417.
  21. Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, et al. (November 2018). "Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease". The New England Journal of Medicine. 379 (22): 2131–2139. doi:10.1056/NEJMoa1714458. PMC 6481166. PMID 30304647.
  22. "Divining your future in healthcare". 2013-10-18.
  23. "3D-Printed Medical Devices Spark FDA Evaluation".
  24. "Personalized Medicine Benefits - The Jackson Laboratory".
  25. Mesko B (2017). "Expert Review of Precision Medicine and Drug Development". Journal Expert Review of Precision Medicine and Drug Development. 2 (5): 239–241. doi:10.1080/23808993.2017.1380516.
  26. Ray A. "Artificial Intelligence and Blockchain for Precision Medicine". Inner Light Publishers. Retrieved 21 May 2018.
  27. Krittanawong C, Zhang H, Wang Z, Aydar M, Kitai T (May 2017). "Artificial Intelligence in Precision Cardiovascular Medicine". Journal of the American College of Cardiology. 69 (21): 2657–2664. doi:10.1016/j.jacc.2017.03.571. PMID 28545640.
  28. "The Impact of Precision Medicine on Cancer".
  29. Neergard L (30 January 2015). "Obama Proposes 'Precision Medicine' to End One-Size-Fits-All". Drug Discovery & Development. Associated Press.
  30. "Near-term Goals".
  31. "Longer-term Goals".
  32. "The White House Precision Medicine Initiative".
  33. Cunningham PW (2018-01-16). "The Health 202: NIH wants 1 million Americans to contribute to new pool of gene data". Washington Post. ISSN 0190-8286. Retrieved 2018-01-20.
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