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Realizing personalized medicine’s full benefits will require active patient involvement. This is the first in a series of articles defining personalized medicine in the context of participatory medicine. The series will explore how current best practices can contribute to improved medical outcomes, reduced medication adverse reactions, increased patient satisfaction and overall value.

What is “personalized medicine?”

Personalized medicine, which is also called precision or individualized medicine, is an evolving field in which physicians use certain diagnostic tests to determine which medical treatments will work best for each individual patient.(1) This information is important because some drugs are ineffective on some patients, and sometimes the right tests can even determine that the disease isn’t what anyone thought. By combining the data from these certain diagnostic tests with an individual’s medical history, circumstances and values, clinicians can better work with patients to develop targeted treatment and prevention plans based on the patient’s unique preferences and biological markers (biomarkers), most of which are genetic (also known as genomic) in nature. Personalized medicine can (2):

  • Shift the focus from the disease in a patient to the patient with a disease
  • Shift the emphasis in medicine from reaction to collaboration and partnership
  • Direct the selection of optimal therapy and reduce trial-and-error prescribing
  • Help avoid some adverse drug reactions
  • Improve patients’ ability to manage treatment
  • Improve quality of life
  • Reveal additional or alternative uses for medicines and drug candidates
  • Help control the overall cost of health care in a value based shift

With over 15,000 genetic tests for over 2,800 genes, selecting the right kind of testing based on condition and context is important. (3) Pharmacogenomics (also known as pharmacogenetics) is an area where change is early but holds great potential. As William Gibson eloquently stated, “the future is already here – it’s just not very evenly distributed.” For example, a recent Scientific American article (4) noted only 10 hospitals in the USA perform pharmacogenomic testing as a matter of routine for certain patients.
Why the participatory importance?

Eric Dishman’s final speech in May at Intel captures the essence of this need. “Knowledge is survival” (as a fellow e-Patient told him 29 years ago!) and patients are the leading beneficiary in this personalized push (5). Genetic biomarker data is unique for each of the 100+ billion humans ever born. Realizing this key aspect, its anticipated that optimal medication intervention using personalized biomarker data will impact outcomes for patients in ways we can only imagine. Some insurers are beginning to realize the benefits of reimbursing for genetic testing, particularly for cancer treatment.(6) By acting as informed consumers, patients can help move these benefits along more quickly, particularly in cancer and medication administration in pharmacogenetics. This is by informing themselves and by asking whether they’re available and appropriate in their specific case.

Where to begin?

Data ownership and stewardship is critical given the nature of personalized medicine. This critical topic will be explored in a subsequent article within this series. As far as actionable results are concerned, Cancer remains at the top of the list within genetic testing (more on this as well in a future segment). While cancer treatment is currently the area of biggest impact, many prescribed one of the following classes of medications may stand to benefit from pharmacogenomics:

  • Anti-depressants and other behavior medications
  • Arthritis medications
  • Asthma medications
  • Cardiovascular medications (statins, warfarin, etc.)
  • Diabetes medications
  • Pain medications and
  • Several other medication types being added to this list.

Snake oil has been sold since 3000 BC. Genetic testing is no exception. Do your homework when looking at testing providers and especially knowledge management systems. The key is to ensure scientific evidence based research backs the claims. Several companies offer cost effective pharmacogenomic testing and related knowledge management capabilities. Here’s a partial company list (7) (No endorsements implied):

  • ActX
  • Advanced Individualized Medicine
  • GeneDx
  • GeneSight (Assurex)
  • Genetech
  • HealthSpek (MyGENETX)
  • HudsonAlpha
  • Myriad
  • PGXL Laboratories
  • PillCheck
  • Transgenomics

Good participatory medicine is always collaborative, so please discuss this with your clinicians. This is a relatively new field, so don’t be discouraged if the first response you get is it will not be covered by insurance. You and your clinical team may have to learn about the possibilities together. (8) The era of personalized medicine is upon us with great potential for positive change. While reimbursement and lack of widespread, dynamic, integrated and actionable result reporting continue to be two key barriers, they will continue to be removed (9, 10). Like all improvements in care, it will take some time to realize the full potential, starting with thoughtful participatory medicine dialog.



(1) For more background, see from the Personalized Medicine Coalition.

(2) Ibid.

(3) The Http://NCBI.NLM.NIH.GOV/GTR holds a comprehensive registry.

(4) Scientific American provided good background in this May 2017 article.

(5) Dave deBronkart’s excellent commentary with Dishman’s final speech captures a key future direction.

(6) See Independence Blue Cross policy change from early 2016.

(7) Two listings at and have additional firms.

(8) Two good informational pieces to share with clinicians can be found on for a high level discussion and this page for a more detailed result report. Check the list of companies above for other good educational examples as well as other resources listed in these notes.

(9) See (4).

(10) “Cost-effectiveness of one-time genetic testing to minimize lifetime adverse drug reactions.” The Pharmacogenomics Journal (2016) 16, 129–136; doi:10.1038/tpj.2015.39; See for the online version and Clinical Pharmacogenomics Implementation Consortium for additional technical background. A solid real world example working at Northshore Hospital, affiliated with the University of Chicago Pritzker School of Medicine can be found here and here originally published in Genomeweb.