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precision medicine

Indications: - multigene mutational profiling is recommended for: - acute myeloid leukemia & myelodysplastic syndrome - non-small cell lung cancer - colorectal carcinoma - melanoma [5] * precision medicine in oncology refers to use of agents that target specific aspects of a tumor cell driving tumor growth [7] Notes: - precisely tailoring therapies to subcategories of disease, often defined by genomics [1] - use of "precision" was intended to avoid the implication that medications would be synthesized personally for single patients - interactions between physicians & data scientists are needed to enable clinically meaningful automated & predictive data analysis [2] - development & implementation of population-scale clinical genome sequencing programs in health care systems present new opportunities for generation of robust evidence regarding the benefits, harms, & economic value associated with precision medicine [3] - potential exists for creation of new data sharing models across institutions, harmonization of data standards, & the development of novel, validated metrics for outcomes related to the application of precision medicine in populations [3] - molecular biomarkers identified by gene sequencing can include specific gene mutations or tumor phenotypes that predict treatment response, such as microsatellite instability or an increased tumor mutation burden, both of which predict response for immune checkpoint inhibitor therapy [5] - an increasing number of health systems initiating clinical genome sequencing programs in comparatively unselected populations might be leveraged to simultaneously conduct discovery, outcomes, & implementation research [6]

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References

  1. Ashley EA et al The Precision Medicine Initiative. A New National Effort. JAMA. 2015;313(21):2119-2120. PMID: 25928209 http://jama.jamanetwork.com/article.aspx?articleID=2289153
  2. Krittanawong C, Zhang H, Wang Z, Aydar M, Kitai T. Artificial Intelligence in Precision Cardiovascular Medicine. J Am Coll Cardiol. 2017 May 30;69(21):2657-2664. Review. PMID: 28545640
  3. Feero WG, Wicklund CA, Veenstra D. Precision Medicine, Genome Sequencing, and Improved Population Health. JAMA. Published online March 16, 2018. PMID: 29547675 https://jamanetwork.com/journals/jama/fullarticle/2675723
  4. Katz SJ, Jagsi R, Morrow M. Reducing Overtreatment of Cancer With Precision Medicine. Just What the Doctor Ordered. JAMA. 2018;319(11):1091-1092. March 20, 2018 PMID: 29470568 https://jamanetwork.com/journals/jama/article-abstract/2673741
  5. Spencer DH, Ley TJ. Sequencing of Tumor DNA to Guide Cancer Risk Assessment and Therapy. JAMA. 2018;319(14):1497-1498. April 10, 2018 PMID: 29634818 https://jamanetwork.com/journals/jama/fullarticle/2678003
  6. Feero WG, Wicklund CA, Veenstra D. Viewpoint. Precision Medicine, Genome Sequencing, and Improved Population Health. JAMA. 2018;319(19):1979-1980. May 15, 2018 PMID: 29547675 https://jamanetwork.com/journals/jama/fullarticle/2675723
  7. Medical Knowledge Self Assessment Program (MKSAP) 18, 19. American College of Physicians, Philadelphia 2018, 2021.
  8. Austin CA, Seligman B, Shan-Bala S et al Aging precisely: Precision medicine through the lens of an older adult. J Am Geriatr Soc. 2024 Oct;72(10):2972-2980. PMID: 38888213 Review.