A Brief History of Health Care IT ― Part 2:

Leveraging the Human Genome to Drive Patient Care

November 08, 2018  |  Austin Raper, Ph.D.

The field of health care IT (HIT) is rapidly evolving and it can be a struggle to stay current with the range of technologies intended to benefit patients, providers and pharmacists. In our series on the history of HIT, we are pushing pause to reflect on some of the major technological breakthroughs that have benefited patients and continue to shape the health care industry.

During our first article in the series, we discussed the evolution of electronic health records (EHRs), which streamlined digital record keeping and legislative compliance for millions of health care providers, while paving the way to patient-centric solutions for navigating complicated health plan benefits, such as RxBenefit Clarity™. In this current edition, we direct our focus to an exciting research area poised to revolutionize patient procedures and care for providers and pharmacists – pharmacogenomics.

These days, it is commonplace to see advertisements from commercial DNA testing companies promising to draw the branches on your family tree or even predict the likelihood that you’ll inherit certain diseases. Beyond these direct-to-consumer services, an increasing number of health care providers are seeing the value of genetic testing to offer expert-level evaluation of their patients’ DNA that can lead to sensible risk assessment for disease and actionable genotype-guided prescribing.1

Supplied with a patient’s genetic profile, a provider can help customize health programs for the individual, which may include personalized lifestyle recommendations and prescription of gene-compatible medications. Using genetic information to avoid adverse events from medications and even forecast a patient’s response to a therapy is the core of pharmacogenomics and can help change the landscape of health care from reactive to proactive.

The Human Genome Project and the Rise of Pharmacogenomics

In 1953, James Watson and Francis Crick published the first structure of deoxyribonucleic acid (DNA) – an important first step towards unlocking the trove of information stored in the human genome.2 Features of this now famous double-helical structure and continued experimentation gave scientists confidence that DNA was indeed the molecule of genetic inheritance and mutations to the DNA sequence could cause disease.

Unfortunately, sequencing the entire human genome to help understand our biology and the origin of genetic diseases seemed like a pipe dream as inadequate DNA sequencing technologies of the time were labor intensive and low-throughput. It was not until development of automated DNA sequencing through scientific breakthroughs by Frederick Sanger in the 1970s that technology reached a point where such a feat was possible.3,4

The Human Genome Project was then formally started in 1990 by the United States federal government as a proposed 15-year undertaking with goals to identify all genes in human DNA, determine the sequence of all ~3 billion base pairs that comprise human DNA, characterize human DNA sequence variation and develop new technologies to handle genetic data, among others. A finished version of the human genome was completed in 2003, two years ahead of schedule, and is freely available for scientists conducting research.4

With the human genome publicly available and the cost of genome sequencing dramatically cheaper (e.g. genome sequencing in 2006 estimated to cost ~$14 million versus ~$1,000 in 2016), scientists have identified genetic origins for many diseases (e.g. ~1,800 disease genes identified from the Human Genome Project) as well as uncovered a genetic component to variable patient response to certain medications.5,6 These scientific achievements jumpstarted the field of pharmacogenomics as it is known today.

Pharmacogenomics and its Impact on Patient Care

As an example of pharmacogenomics at work, millions of Americans suffering from depression are prescribed selective serotonin reuptake inhibitors (SSRIs) each year but demonstrate a wide range of response outcomes (e.g. drugs are effective in only two-thirds of depressed patients).7 Pharmacogenomic research suggests that DNA mutations in genes coding for particular enzymes influencing the function of neurotransmitters in the brain may be responsible for the variable response to SSRIs by patients.8 Foreknowledge of a patient’s genetic predisposition could help providers to prescribe an effective initial treatment, thereby reducing the likelihood of adverse events while protecting the patient from difficult treatment changes.

Foreknowledge of a patient’s genetic predisposition could help providers to prescribe an effective initial treatment, thereby reducing the likelihood of adverse events.

The value of pharmacogenomics for improving patient care is already being recognized by providers and health systems. In fact, this year Geisinger Health System in Pennsylvania has offered to sequence patient DNA at no charge with goals of identifying those at risk for heritable medical conditions and leveraging genetic data for genotype-guided prescribing.9,10 The success of such initiatives should drive adoption of genetic screening and pharmacogenomic testing for providers and health systems.

While hurdles to implementing pharmacogenomics in health care exist, innovations in storage and utility of genetic data, integration of genetic profiles into EHRs, provider education around genetic profiles and interoperability will bring the industry closer to adoption.11,12 Solutions like ClinicalAlertsPlus™ are already streamlining communication between providers and pharmacists through automated identification of opportunities for counseling patients on therapies, medication adherence and recommended clinical services. As the field of pharmacogenomics matures, incorporation of additional functionalities into such solutions should help guide clinical decision making for providers and pharmacists while offering patients the benefits of personalized health care.


  1. Top of Mind for the Top U.S. Health Systems 2018 Report
  2. Molecular Structure of Nucleic Acids
  3. DNA Sequencing with Chain Terminating Inhibitors
  4. An Overview of the Human Genome Project, National Human Genome Research Institute
  5. The Cost of Sequencing a Human Genome , National Human Genome Research Institute
  6. Human Genome Project, Research Portfolio Online Reporting Tools
  7. Antidepressant Use Among Persons Aged 12 and Over: United States, 2011–2014, National Center for Health Statistics
  8. The Pharmacogenomics of Selective Serotonin Reuptake Inhibitors
  9. Routine DNA Screening Moves into Primary Care, National Public Radio
  10. Your Genes Can Show Us How Your Body Reacts to Drugs, Geisinger Caring
  11. Developing Pharmacogenomic Reports: Insights from Patients and Clinicians
  12. Getting Pharmacogenomics Into the Clinic
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