Combining Health IT and Data Modeling

Studying genetics is becoming more pragmatic for industry professionals in the pharmaceutical and health care industry. The advent of ‘personalized medicine’ is expected to increase the therapeutic potential for pharmaceuticals.

The Precision Medicine Initiative by the USA is allocating $215 million towards genetics research, a lot of the funds in Fiscal Year 2016 will be used to create a, “cohort that will broadly reflect the diversity of the U.S. population by including participants from diverse social, racial/ethnic, and ancestral populations living in a variety of geographies, social environments, and economic circumstances, and from all age groups and health statuses.”

The Precision Medicine Initiative, coupled with the BRAIN Initiative (Brain Research through Advancing Innovative Neurotechnologies), allows for the advancement of knowledge in major illnesses and disorders. More specifically, the diagnosis and treatment of nervous system disorders may be accelerated through bioinformatics and neuroinformatics databases.

Minimizing Drug Toxicity & Adverse Effects

For instance, toxicology results (such as adverse reactions and side effects) across varying patient populations may allow for a better understanding of how someone lacking a specific gene or enzyme reacts to a therapeutic before they are prescribed it. There’s an overwhelming amount of potential to be had if individual toxicology results can be predicted through the use of big data formulations.

Pharmacology of therapeutics is a complicated process; however, common warning messages on prescriptions tend to follow similar themes. A few include:

  • Recommending you take the pill with food = this can affect the amount of drug that is absorbed into the blood, for better or worse
  • Avoid drinking the pill with orange juice = which makes your stomach more acidic (which tends to increase how quickly the drug is dissociated in the stomach)
  • Drink it with milk = which makes your stomach more basic
  • Avoid injesting with or on the same day you consume grapefruit juice = grapefruit juice can deplete your body’s store of CYP3A4 enzymes (CYP3A4 also Lipitor (atorvastatin), Viagra (sildenafil),  Cialis (tadalafil), Coumadin (warfarin), and codeine)

Overall, pharmacological dynamics can influence a pill’s overall effectiveness. These are only four common messages, there are probably some more as well depending on the drug/patient/setting. For more information on specific genes and enzymes, check out my post on data visuals and pharmacogenomics.

Below shows Parkinson’s disorder and details about current understandings of its mechanism of action, genetics factors involved, and common therapeutics options in health care today. As funding for biology research increases, there will most likely be advances made in each disorders’ profiling. There will always be a lag time between current scholarly research, industry drug discovery, and health care medical coding; however, current advances in medical research over the past fifteen years allows for the medical landscape to make better strides in treating distinct patient populations and individuals with an increasing degree of personalization.

Parkinson’s Disease:
  • Pathogenic mechanisms: Degradation of D1 receptors in Substantia Nigra
  • Genes involved: SNCA (PARK 1-4), LRRK2 (PARK 8), Parkin (PARK 2), Pink1 (PARK 6), DJ-1 (PARK 7), ATP13A2 (PARK 9)
  • Common Therapeutics: Continuous L-Dopa administration, which is able to cross the blood-brain barrier in order to be metabolized into Dopamine

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Figure 1, Showing genetic inheritance patterns for Parkinson’s Disease. Black symbols – affected individuals; white symbols – unaffected individuals; half-filled symbols – individuals with only resting tremor and/or bradykinesia. (From ‘Genetics of Parkinsons Disease’ Klein and Westernberger, 2012)

Here are some other links for research on genetics and behavioral/nervous system disordes:
Multiple Sclerosis,
Alzheimer’s Disease,


For more information and discussion on this post, email me at will[at]

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