More Than Half a Century After the Discovery of the Double Helix

"Profound" Does Not Even Begin to Describe the Importance of Genetic Discovery

Jeff Bezos, Bill Gates, Steve Jobs, Elon Musk, and Mark Zuckerberg are all progenitors of products and services that have and will continue to change the way we live. Yet each of these titans of business, who are among the richest people in the world, stands on the shoulders of scientists. Without scientific discovery, our technology-rich economy stagnates and our forward movement stalls.

Arguably, the 3 most influential discoveries at the end of the last millennium were nuclear fission and fusion, which have come to define geopolitics; the computer, which has come to augment or perhaps replace from time to time our minds; and deoxyribonucleic acid (DNA), which unifies our understanding of biology and advances (we hope) the future of life itself.

We all know and understand the implications of DNA testing in a court or the insect- and disease-resistant bumper crops that genetically spliced seeds produce or the rather comforting or perhaps unsettling to some discovery of our ancestry, both individually and collectively. DNA has become part of our common daily lexicon and acumen, so much so, that now Ancestry.com is making a holiday marketing push. What better gift to give for Christmas than a genetic test from Ancestry.com?

Genetic Interventions: Welcome to the Medical Mainstream

But wait. There is a competing stocking stuffer. 23andme is marketing its consumer product for the holidays. The direct-to-consumer test will present findings to all your pharmacy patrons, showing whether they are susceptible to or a carrier of a number of disease states, such as early-onset Alzheimer’s, Parkinson’s, and some types of hemophilia. It also tells you why you have blond hair and a number of other traits.¹ Want to know if you have the 1 of 3 variants of genome marker rs4481887 that determines if you can smell asparagus in your urine? This is the test for you.²

We Have been Hearing About This Revolution for Years, But Now It Is Here

Pharmacogenomic testing in practice is about to take off. There are a number of companies and payers interested, particularly in the employer space.

As “all-in-1 tests” begin to emerge that conduct analyses of multiple categories of drug activity across multiple disease states, it is becoming easier to create workflow to start testing the masses as the value proposition begins to emerge.

In fact, recent data presented at the 2017 Neuroscience Educational Institute Congress in November showed a reduction in benzodiazepine use and health care costs in the thousands of dollars by using pharmacogenomics testing,³ and work is under way to make testing more prominent for helping respond to our nationwide opioid epidemic with the aid of data helping clinicians understand why some patients struggle so much with pain management and dependence. Having the clinical ability to provide a customized pain management plan rather than scattershot narcotics may prove critical to turning the tide.

The Implications of Gene Therapy Are Mind-Blowing: Cure is a Powerful Word

The August approval of Kymriah, the first-to-market chimeric antigen receptor T cell (CAR-T) therapy that modifies white blood cells to attack cancer cells. In October, Luxturna was approved for the next phase in its journey to the marketplace to cure (yes, cure) a form of blindness. Its approval would begin the era of true gene therapy. These therapies would quite literally change the genetics in our bodies to our liking to stave off or cure disease. These therapies are not used prior to conception by removing errors in our collective code. No, they dramatically improve life and oftentimes cure disease for the those who are living. Cure is such a powerful word. Imagine if we had a cure for diabetes by altering our genetics. It is indeed profound. Might we all wake up one day and say, “Active ingredients targeting receptors? What a crude and simplistic way to treat a disease!”?

Some Advice for the Early-Career Pharmacist

Go get training, certification or a master’s degree in genomics. Kymriah will go do market at roughly a half million dollars upon last report, and Luxturna is looking to charge $1 million per cure. But ya know, if it cures blindness … Oh, and I forgot to mention: There are more than 1,500 gene therapies in the pipeline. Happy holidays!

Note: If you decide to do some interesting reading over the holidays, look up female scientist Rosalind Franklin. It seems that she was largely left out of widespread historical recognition and the awarding of the Nobel Prize during her lifetime, despite helping to bring such significant findings about DNA to our world. It is a shame that she worked in an environment that might have failed to fully recognize her work, owing to circumstances having nothing to do with her actual work. Would Watson and Crick be household names without her?

Troy Trygstad, PharmD, PhD, MBA, is vice president of pharmacy programs for Community Care of North Carolina, which works collaboratively with more than 1800 medical practices to serve more than 1.6 million Medicaid, Medicare, commercially insured, and uninsured patients. He received his PharmD and MBA degrees from Drake University and a PhD in pharmaceutical outcomes and policy from the University of North Carolina. He also serves on the board of directors for the American Pharmacists Association Foundation and the Pharmacy Quality Alliance.

References

• 23andme.com website. 23andme.com. Accessed November 30, 2017.
• Seife C. 23andMe is terrifying but not for the reasons the FDA thinks. Scientific American. scientificamerican.com/article/23andme-is-terrifying-but-not-for-the-reasons-the-fda-thinks/. Published November 27, 2013. Accessed November 30, 2017.
• Pharmacogenomic Testing Tool Can Reduce Utilization of Benzodiazepine. American Journal of Managed Care. ajmc.com/conferences/nei-2017/pharmacogenomic-testing-tool-can-reduce-utilization-of-benzodiazepine. Published November 12, 2017. Accessed November 30, 2017.