Twenty years ago, the potential of precision medicine was thrust into the limelight. Completed in 2003, the Human Genome Project accomplished the incredible feat of sequencing 92% of the human genome – ushering in a new era of healthcare [1]. In 2022, the Telomere-to-Telomere (T2T) consortium took things a step further by filling in the gaps and producing the first complete human genome sequence. Precision, or personalized, medicine takes advantage of our knowledge of the genome to guide more precise care tailored to an individual’s unique genomic, environmental and lifestyle information.
A Director & National Institutes of Health (NIH) Distinguished Investigator, Center for Precision Health Research, once framed the concept of precision medicine simply: “It is common sense that no two individuals are the same, and so they should not get the same healthcare. Precision healthcare embodies that simple idea.” [2]
For a seemingly simple idea, many barriers have prevented the large-scale clinical use of genetics. However, a new peer-reviewed, open access article authored by leaders at Coriell Life Sciences and Thermo Fisher Scientific makes the case that the time is ripe for clinical-decision making informed by pharmacogenomics (PGx) to become standard of care. While genetic testing is commonly used today in oncology to connect patients with targeted therapies, PGx testing has not yet proven ready for the mainstream – until now.
Powering better prescribing with genomic data
The paper, titled “Maturing pharmacogenomic factors deliver improvements and cost efficiencies,” argues that we have now reached a “tipping point” for PGx testing. According to the authors, PGx can be defined as “the use of genetic information to routinely determine the safety and efficacy profile of specific medications for individuals.” Testing a patient’s genomic profile can reveal how they may respond to or metabolize certain medications. Rather than relying on a “one-size-fits-all” approach, PGx enables precise prescribing and dosing.
“Pharmacogenomics takes a data-driven approach to prescribing, allowing patients to be matched with the appropriate antidepressant, analgesic, anti-platelet, or lipid lowering medication,” said Tricia Kenny, Director of Market Development, Genetic Testing Solutions at Thermo Fisher. “We’ve long been excited by the potential of PGx to reduce trial-and-error and transform healthcare.” In the mental healthcare space, PGx testing has proven especially helpful for improving medication adherence, as we published in a previous blog.
Tracing the evolution of PGx
Based on progress since 2005, the paper examines the maturity of PGx across 5 critical factors – clinical utility, laboratory technology, user acceptance, implementation models and economic value. Ultimately, the paper reaches the conclusion that PGx has scaled to the point where the world is ready for large-scale PGx implementation to improve how medicines are prescribed which in turn helps to curb rising healthcare costs.
According to the authors, in the years immediately after the completion of the Human Genome Project, most of the interest in PGx was confined to the research space. However, early successes “helped to build the case” for the clinical utility of PGx, including the emergence of targeted therapies like Herceptin (trastuzumab) for breast cancer [3]. By 2010, as regulatory oversight for PGx testing began to take form, the world saw advancements in high-throughput, genetic testing technologies including real-time PCR, microarrays and mass spectroscopy arrays. Over the last decade, the paper cites the evolution of laboratory technology as having reached “sufficient maturity to be considered fully established and scalable during this period.”
User acceptance has continued to grow among payors, providers and patients alike, and today clear guidelines have been established thanks to the Pharmacogenomics Knowledgebase (PharmGKB) and guidelines from the Clinical Pharmacogenetics Implementation Consortium (CPIC).
Cost-effectiveness and COVID-19’s impact
The missing puzzle piece for establishing PGx at scale is making the case for its real-world value. However, published studies are demonstrating economic value – according to the paper’s authors. A study from 2022 found that in a population of older adults, costs per patient per month were reduced by $218 when PGx-testing was utilized in prescribing [4]. “With healthcare costs continuing to climb, pharmacogenomic-guided prescribing is proven to be a cost-effective strategy. It can prevent adverse-drug reactions (ADRs), reduce hospital admissions and ensure patients are receiving care tailored to their needs,” said Kenny.
Another proof point for PGx was the COVID-19 pandemic, which brought rapid, genetic testing technologies to the heart of nearly every community. For the first time, the entire world witnessed the power of molecular testing firsthand. The paper concludes that “re-purposing the infrastructure centered around viral testing to address other pressing public health concerns represents a major opportunity that should not be overlooked.”
According to Kenny: “This paper is a culmination of the exciting progress seen over the years in PGx, from growing acceptance to new research findings. We look forward to seeing the implementation of PGx at-scale.”
“Maturing pharmacogenomic factors deliver improvements and cost efficiencies” is freely available from the Cambridge University Press here.
For educational information pharmacogenomics, please visit https://www.thermofisher.com/pgx .
Sources:
[1] National Human Genome Research Institute | Human Genome Project Fact Sheet
[2] National Human Genome Research Institute | Precision Medicine
[3] Cell Press | Herceptin: A First Assault on Oncogenes that Launched a Revolution
[4] Journal of Personalized Medicine | Real-World Impact of a Pharmacogenomics-Enriched Comprehensive Medication Management Program