The Quadruple Aim—enhancing patient experience, increasing provider satisfaction, improving population health, and reducing costs of care—serves as a guide for optimal health system performance1. Implementing a genomics program that includes access to pharmacogenomics is critical for health systems to be able to accomplish it.
The U.S. Food and Drug Administration (FDA) currently lists over 300 drug-gene pairs to aid prescribers in making decisions based on genetic test results2. Of these drug-gene pairs, 87% impact safety, and efficacy. And from 2009 to 2012, approximately half of patients in the United States were exposed to one or more drugs for which pharmacogenomic guidelines are known3.
Approx 1/2 of patients were exposed to one or more drugs for which pharmacogenomic guidelines are known
In addition, experiencing adverse side effects is one of the most common reasons that on average, 50% of patients are non-adherent to their medication5. And since a medication adherence of at least 80% is generally necessary for therapeutic efficacy4, adverse drug reactions are a significant contributor to morbidity and mortality. In fact, they were estimated to be the fourth leading cause of death in the United States before the COVID-19 pandemic6. And the total healthcare cost resulting from non-adherence can range anywhere from $949 to $44,190 per person7.
Mental health is a field in which the value of pharmacogenomics has significant potential. In 2020, nearly 17% of adults took pills to treat mental health conditions. The pharmacologic treatment of mental health conditions is complex because front-line drugs like SSRIs take significant time to produce effects. More than half of patients fail to achieve remission with the first pharmacologic therapy8. Studies indicate that implementing a pharmacogenomics-enriched comprehensive medication management program can save a patient $4,000 annually, simply by optimizing medication regimens9,10.
Another area where pharmacogenomics is distinctively advantageous is for patients that take multiple medications simultaneously which has increased in recent years with aging populations11. Between 1995 and 2010, the proportion of adult patients at risk for severe drug-drug interactions was more than 13%12. Pharmacogenomics-enriched comprehensive medication management has the power to catch these potential serious interactions and provide alternatives. It is also an effective tool to minimize side effects and increase the quality of life for multimorbid patients13.
But not all pharmacogenomics platforms are created equal. The PREDICT study established that preemptive testing of a panel of genes could save time and cost by reducing the need for close to 15,000 individual gene tests—a 60% reduction14. Helix’s Sequence Once, Query OftenTM model increases efficiency and reduces costs because patients only have to consent and submit to sequencing once. After the initial test, providers can routinely access the patient’s genomic data as many times as necessary without the burden of additional tests15. Each time a new genetic susceptibility locus is discovered or changes are made to the patient’s medication regimen; the data is already there for review.
Choosing a partner like Helix that provides an end-to-end population genomics platform is essential to success. The Helix platform provides holistic support throughout implementation. It includes comprehensive clinical decision support tools which allow providers to make the most of pharmacogenomic data. Real-world testing of platforms that provide similar tools have demonstrated16:
- Improvements in medication risk assessment and patient-provider communication
- A positive shift away from acute care services in healthcare resource utilization
- Cost savings of about $7,000 per patient in direct medical charges for Medicare Advantage patients
One study in particular observed 5,288 Medicare Advantage patients receiving benefits through a state retirement system over the first 32 months of implementing such a program and documented a $37 million reduction in direct medical charges16.
Implementing pharmacogenomics resulted in a cost savings of $7,000 per patient in direct medical charges
While pharmacogenomics has clear advantages for the individual, the health system also stands to profit. Optimum medication regimens informed by pharmacogenomics with clinical decision support tools benefit everyone. When the proper medication is given to the right patient at the right time, patients experience fewer adverse effects and have better health outcomes. We save time by avoiding additional testing and provider visits, which enhances patient experiences and improves provider satisfaction. Together these lower the overall costs of care.
The number of patients with multimorbidity and polypharmacy is increasing, but pharmacogenomics has the power to improve the standard of care for these patients. Implementing a pharmacogenomics platform with Helix is the ideal way to ensure that healthcare providers correctly stratify healthcare risks and provide more targeted, personalized, and efficient care.
- Bodenheimer T, Sinsky C. From triple to quadruple aim: care of the patient requires consideration of the provider. Ann Fam Med. 2014;12(6):573-576. doi:10.1370/afm.1713
- Cheng CM, So TW, Bubp JL. Characterization of Pharmacogenetic Information in Food and Drug Administration Drug Labeling and the Table of Pharmacogenetic Associations. Ann Pharmacother. 2021;55(10):1185-1194. doi:10.1177/1060028020983049
- Samwald M, Xu H, Blagec K, et al. Incidence of Exposure of Patients in the United States to Multiple Drugs for Which Pharmacogenomic Guidelines Are Available. PLoS One. 2016;11(10):e0164972. Published 2016 Oct 20. doi:10.1371/journal.pone.0164972
- Kim J, Combs K, Downs J, Tillman F. Medication adherence: The elephant in the room. US Pharm. 2018;43(1):30-34
- Unni EJ, Sternbach N, Goren A. Using the Medication Adherence Reasons Scale (MAR-Scale) to identify the reasons for non-adherence across multiple disease conditions. Patient Prefer Adherence. 2019;13:993-1004. Published 2019 Jun 28. doi:10.2147/PPA.S205359
- Center for Drug Evaluation, and Research. Preventable Adverse Drug Reactions: A Focus on Drug Interactions. U.S. Food and Drug Administration. Available at https://www.fda.gov/drugs/drug-interactions-labeling/preventable-adverse-drug-reactions-focus-drug-interactions. 2021. Accessed July 12, 2022.
- Cutler RL, Fernandez-Llimos F, Frommer M, Benrimoj C, Garcia-Cardenas V. Economic impact of medication non-adherence by disease groups: a systematic review. BMJ Open. 2018;8(1):e016982. Published 2018 Jan 21. doi:10.1136/bmjopen-2017-016982
- Annemans L, Brignone M, Druais S, De Pauw A, Gauthier A, Demyttenaere K. Cost-effectiveness analysis of pharmaceutical treatment options in the first-line management of major depressive disorder in Belgium. Pharmacoeconomics. 2014;32(5):479-493. doi:10.1007/s40273-014-0138-x
- Maciel A, Cullors A, Lukowiak AA, Garces J. Estimating cost savings of pharmacogenetic testing for depression in real-world clinical settings. Neuropsychiatr Dis Treat. 2018;14:225-230. Published 2018 Jan 8. doi:10.2147/NDT.S145046
- Brown LC, Lorenz RA, Li J, Dechairo BM. Economic Utility: Combinatorial Pharmacogenomics and Medication Cost Savings for Mental Health Care in a Primary Care Setting. Clinical Therapeutics. 2017;39(3):592-602.e1. doi:https://doi.org/10.1016/j.clinthera.2017.01.022
- Barnett K, Mercer SW, Norbury M, Watt G, Wyke S, Guthrie B. Epidemiology of multimorbidity and implications for health care, research, and medical education: a cross-sectional study. Lancet. 2012;380(9836):37-43. doi:10.1016/S0140-6736(12)60240-2
- Guthrie B, Makubate B, Hernandez-Santiago V, Dreischulte T. The rising tide of polypharmacy and drug-drug interactions: population database analysis 1995-2010. BMC Med. 2015;13:74. Published 2015 Apr 7. doi:10.1186/s12916-015-0322-7
- Prather A, Aifaoui A, Shaman JA. Idiopathic Symptoms Resolved by Pharmacogenomics-Enriched Comprehensive Medication Management: A Case Report. Cureus. 2022;14(2):e21834. Published 2022 Feb 2. doi:10.7759/cureus.21834
- Van Driest SL, Shi Y, Bowton EA, et al. Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing. Clin Pharmacol Ther. 2014;95(4):423-431. doi:10.1038/clpt.2013.229
- Helix. Paving the way to a more equitable future in precision health [blog]. Updated January 27, 2022. Accessed July 12, 2022.
- Jarvis JP, Peter AP, Keogh M, et al. Real-World Impact of a Pharmacogenomics-Enriched Comprehensive Medication Management Program. J Pers Med. 2022;12(3):421. Published 2022 Mar 8. doi:10.3390/jpm12030421