Written by Julie Bick, Ph.D.
Pharmacogenomics or PGx, is the study of how an individual's genetic makeup influences their response to medications. Due to its relatively low cost and high clinical potential PGx has been at the forefront of personalized medicine for several years. As global healthcare incorporates new technologies, countries worldwide are now adopting PGx testing to optimize drug therapies, reduce adverse drug reactions, and improve patient outcomes. This blog explores how various nations have integrated PGx into their healthcare systems, highlighting achievements, challenges, and unique approaches.
The United States has been a pioneer in PGx, benefiting from robust research funding and an advanced healthcare infrastructure. The U.S. Food and Drug Administration (FDA) plays a critical role by including pharmacogenomic information on drug labels for over 300 medications. Initiatives like the All of Us Research Program, which aims to gather genetic data from a million Americans, underscore the country’s commitment to integrating genomics into routine care. All of Us supports research on the intersection of three factors- environment, lifestyle and biology and participation in the program is open to all patients whether healthy or with health issues, and no insurance is required. The goal of this National Institute of Health (NIH) funded program is to ultimately improve the health of future generations by making all de-identified patient data available to researchers through a searchable public database (www.allofus.nih.gov)
The NIH along with several other organizational partnerships are working to address the disparities in access to PGx within the US population, and major academic medical centers, such as Mayo Clinic and Vanderbilt University Medical Center, are actively implementing clinical pharmacogenomics programs.
Canada’s approach to PGx has been more measured but equally impactful. Groups including the Marathon of Hope Cancer Centres Networks (https://www.marathonofhopecancercentres.ca/our-research/network-pilot-projects) and efforts by institutions such as the Canadian Pharmacogenomics Network for Drug Safety (www.cpnds.ubc.ca) focus on reducing adverse drug reactions in pediatric and adult populations. However, PGx testing is not yet universally covered by public healthcare, although several commercial at home sampling kits for PGx testing are available in Canada with patients paying out of pocket for these. Nevertheless, PGx profiling is being adopted more frequently as a component of clinical decision support tool for mental health services, with around 1 in 5 Canadians requiring some form of mental healthcare that would benefit from PGx testing.
The Netherlands is a leader in implementing pharmacogenomics at the clinical level. The Dutch Pharmacogenetics Working Group (DPWG) has developed evidence-based guidelines for using genetic data to guide drug prescribing, making it a model for other countries. It is reported that of the genes captured in these guidelines, variants representing actionable phenotypes are found in 85-95% of the population (Bank and Swen, 2019). As a result, many Dutch pharmacies incorporate PGx testing, ensuring patients receive personalized prescriptions.
The UK has embraced pharmacogenomics through initiatives such as the 100,000 Genomes Project, which laid the foundation for integrating genomics into the National Health Service (NHS). 100,000 Genomes Project | Genomics England
The program states that the data derived from more than 18.5% of participants turned into actionable findings, many associated with rare diseases and cancer. In 2023, the NHS began offering PGx testing as part of standard care for certain conditions, focusing on medications like warfarin and antidepressants. As with many countries, the adoption of PGx varies across regions of the UK, and ensuring equitable access remains a challenge. The UK also faces hurdles in training healthcare professionals to interpret and apply pharmacogenomic data effectively, and these are being addressed including the education of General Practitioners (GPs) and the development of electronic clinical support systems that integrate PGx profiles (Rafi et. al. 2020).
Germany’s healthcare system has taken a cautious approach, emphasizing research over clinical implementation. Programs such as the National Strategy Genomic Medicine (genomeDE) and the work of the German Center for Cardiovascular Research focus on studying gene-drug interactions, with limited reimbursement for PGx tests (summarized below), The integration of PGx into routine care is still in its infancy, however, project §64e SGB V is structured similarly with the US’s ‘All of Us’ program to make genomic data available for healthcare and research.
PGx tests according to the catalogue of billable services according to Federal Institute for Drugs and Medical Devices.
Fig. 1. Summary of the workflow for PGx integration into the standard of care for patient healthcare in Germany. Adapted From Catharina Scholl| EMA PGx Workshop 24.09.2024 10
Japan has been at the forefront of pharmacogenomics in Asia, driven by its aging population and high prevalence of polypharmacy. The country’s healthcare policies encourage genetic testing, particularly for cancer treatments and medications like warfarin. However, broader adoption is hindered by high costs and limited public awareness. This is changing through the work of the Japan Pharmacogenomics Data Science Consortium (JPDSC) who are compiling SNP and leukocyte antigen loci data from healthy Japanese volunteers (Kamitsuji et. al. 2015). One area where PGx testing has been widely adopted within the Japanese population relates to the use of the anticonvulsant, carbamazepine (CBZ); sadly this drug is associated with severe cutaneous adverse reactions including Stevens-Johnson Syndrome (SJS), toxic epidermal necrolysis (TEN) and drug-induced hypersensitivity syndrome (DIHS) in patients with the HLA-A*3101 allele. Preemptive PGx screening of patient HLA-A phenotype is now recommended due to the prevalence of this variant within the Japanese population (Ozeki et. al. 2011).
South Korea’s advanced technology infrastructure supports its growing interest in PGx. Government initiatives, such as the Precision Medicine Hospital Pilot Project, aim to integrate genetic testing into routine healthcare. South Korea also excels in cancer PGx, using genetic data to guide immunotherapy and chemotherapy treatments, and address therapeutic failure and (Youn et. al. 2024). The Korean Pharmacogenomic Database (KPD) was established to make access to clinical PGx data easier, as well as to collect unique Korean genotype data across 154 genes. The KPD is located at the National Institute of Toxicological Research homepage and this dataset is being actively used in the approval of new drugs in Korea (Kang et. al. 2008)
India faces unique challenges in PGx due to its genetic diversity and disparities in healthcare access. However, initiatives like the Indian Genome Database (IndiGen) are paving the way for wider adoption within India’s diverse population, that represents more than 17% of the world’s populace (Panda et. al 2022). This is critical for India since their domestic pharmaceutical industry is on track to reach $57 billion in 2025. Both India’s pharmaceutical companies and research institutions are collaborating to study gene-drug interactions relevant to their population, particularly for diseases like diabetes and cardiovascular conditions that are highly prevalent. To this end, Agilus Diagnostics has recently launched a comprehensive PGx panel to spearhead personalized medicine in this country. https://www.financialexpress.com/business/healthcare-agilus-diagnostics-launches-pharmacogenomics-testing-service-in-india-3632809/
Australia has been proactive in adopting PGx testing, largely supported by national strategies like the Genomics Health Futures Mission, aimed at reducing healthcare costs and improving health outcomes (www.health.gov.au/our-work/mrff-genomics-health-futures-mission). This involves supporting research within the Australian population as well as incorporating internationally recognized PGx guidelines. ProCan is a project specifically developing a genomic research database relating to cancer- significantly Australia has the highest rates of cancer globally; this is due to several factors including the age of the population and UV exposure due to the disruption of the ozone layer over this region of the world.
Research institutions, such as the Garvan Institute of Medical Research, are key players promoting the adoption of PGx to address all types of medical needs. Whereas PGx tests are available for cancer therapies and certain cardiovascular drugs, broader integration into primary care is still evolving.
New Zealand’s small, cohesive healthcare system has enabled targeted PGx initiatives to be widely adopted, and testing is commonly offered through Pharmacies and direct to consumer testing companies such as EasyDNA. Government funded efforts are focused on addressing disparities among its indigenous Māori population, ensuring equitable access to genomic medicine. However, like Australia, the country faces challenges in scaling these efforts to the broader population.
Africa’s genetic diversity presents both an opportunity and a challenge for PGx. Countries like South Africa and Nigeria are leading the charge, with initiatives such as the H3Africa Consortium exploring the genetic basis of drug responses in African populations. https://h3africa.org/ and African Pharmacogenetics Consortium (APC) that is working to facilitate the adoption of PGx testing within this population. Despite limited resources, these efforts aim to address the continent’s high burden of infectious and non-communicable diseases, as well as support African research enterprise. Given the high level of genetic diversity within the African continent, this represents an opportunity to benefit not only the African population, but to directly inform global health. There are obviously barriers, mainly relating to the costs of testing, however stakeholders within the African healthcare industry are investing heavily into PGx, as they understand the overall benefits of pre-emptive testing to preventative care.
Within South America, PGx is gaining traction, albeit slowly. Brazil and Argentina are at the forefront, with research initiatives focusing on pharmacogenetic variants relevant to their own populations. Public health systems in these countries are beginning to explore how genetic testing can improve drug safety and efficacy, particularly for treatments for infectious diseases like tuberculosis and HIV. But the South American population displays vast genetic diversity, with distinct variants in even well characterized PGx target genes; as a result, clinically driven guidelines may not yet be known for many gene variants common to this population, and this has impeded the adoption of PGx into clinical practice (López-Cortés et. al. 2023)
The global adoption of PGx testing represents the combining of innovation, policy, and distinct regional healthcare needs. While some countries have made significant strides, others are still laying the groundwork. Addressing barriers to access, fostering international collaboration, and investing in education will be crucial for realizing the full potential of PGx profiling for global health. As this field continues to evolve, it holds the promise of revolutionizing medicine, leveling the cost of precision medicine and improving health outcomes worldwide.
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