The Role of Pharmacy in Pharmacogenomics

Providing the right medicine, at the right dose, with optimal outcome

Pharmacogenomics is the study of how an individual's genetic information determines how they will respond to medicines.

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The development and application of pharmacogenomics (PGx) in clinical practice is an expanding area in healthcare which aligns with national and NHS priorities across Great Britain (GB).1,2,3 Pharmacists are medicines experts with a background of scientific training and are therefore well-equipped to play an integral part in the development of PGx. From system leadership to implementation of services, pharmacists can tailor and personalise the prescribing of medicines based on genetic information. 

There are many benefits of PGx, including reduced time to patient therapeutic response, increased patient safety, reduced adverse effects of medicines and reducing pressures on healthcare systems, it is vital that the pharmacy workforce is prepared and builds the knowledge and skills required to confidently lead and support at the forefront of PGx.

Improving patient care through pharmacogenomics

science microscope

The Genome UK strategy4 was launched in 2020, with a clear vision to enable people to lead longer healthier lives by utilising genomic technologies to provide personalised treatments to treat illnesses, identify genetic risk factors for certain diseases and to detect cancers earlier. The Genome UK implementation plan aims for collaborative working between all UK nations to develop genomics services and to realise the potential of genomics for the benefit of patient care.4,5

The sequencing of the human genome in 20036 and the launch of initiatives such as the NHS 100,000 Genomes Project7 in the UK in 2012, have greatly contributed to our understanding of the human genome, leading to a greater appreciation for the role that PGx can play in diagnostics, treatment and disease management. PGx uses an individual’s genetic information to determine how that person responds to medicines. For example, variation in an individual’s genome can either increase the therapeutic effects of a medicine or render that medicine ineffective.8

These genome variations can also be used to predict the likelihood of a patient experiencing adverse drug reactions to certain medicine, and therefore empower healthcare professionals to determine the most appropriate medicine and dose for each patient.

Example of PGx benefiting practice within cancer care

Dihydropyridine Dehydrogenase (DPYD) testing is widely used within clinical practice across all UK nations.5 The DPYD test determines whether a patient has a DPD enzyme deficiency resulting in an inability to breakdown fluoropyrimidine-based chemotherapy. 

The implementation of DPYD testing has enabled the routine screening of all cancer patients eligible for treatment with fluoropyrimidine-based chemotherapy to identify their risk of experiencing severe side effects or death, and therefore enabling appropriate dose modifications or drug avoidance to improve patient safety.5

The benefits of pharmacogenomics to patients and the NHS

Healthcare is moving away from a ‘one-size-fits-all’ approach to patients’ treatment, being replaced by a more tailored, personalised approach. A growing international evidence base demonstrates that pharmacogenomics enables medicines optimisation and improved patient safety from medicines. 

Evidence suggests that the use and clinical application of PGx can lead to:

Benefits to the patient

  • Reduced medication related harm to patients by ensuring they receive the most suitable treatment from the start, with faster and improved therapeutic response9
  • Increased medicines adherence by increasing patient confidence in medicines that are tailored to them10
  • Improved survival rates in high-risk patients due to more accurate and effective use of therapies following an early diagnosis.9

Benefits to the NHS

  • As international guidelines have shown that annually in the UK primary care sector, one in eleven new prescriptions dispensed of a pharmacogenomic related medicine requires the patient to receive a dose or drug change to their treatment 11
  • More efficient use of clinicians’ time for greater patient benefit due to improved patient response, potentially resulting in reduced clinicians’ contact requirements 10
  • Potential reduction in overall cost of healthcare as a result of fewer patients experiencing adverse drug reactions, e.g. reduced number of medicines a patient must trial to find an effective treatment, and potentially reduced hospital admissions related to adverse drug reactions.9,11,12,13,14,15

The future role of pharmacy in pharmacogenomics

Pharmacists are key professionals working on the front line of healthcare and are the experts in medicines. Their unique training in science and healthcare, enables them to articulate complex medicines issues in a patient-friendly way. International evidence demonstrates diverse opportunities for pharmacists in PGx across all sectors of pharmacy (Table 1).14,16,17,18,19,20 

Pharmacists and pharmacy teams increasingly lead and/or support on the development and delivery of new services, utilising their clinical expertise to advise on when and where PGx testing could be piloted. They have the fundamental pharmacological understanding to optimise the use of PGx test results for better patient outcomes, and PGx would be a natural expansion of the role of the pharmacist and the pharmacy team when PGx becomes part of everyday practice.

Table 1: The evidence-based role of pharmacy in implementing and delivering pharmacogenomics services across the world

Roles

  • Raising awareness and promoting the use of PGx in the healthcare setting21,22,23,24,25,26,27,28,29,30,31,32,33
  • Members of multidisciplinary teams for better integration of PGx use8,10,22,23,26,28,29,35,36,37,38
  • Identifying patients who would benefit from PGx testing, e.g. during medication reviews8,10,22,23,25,35,36,37,38,39
  • Providing information and advice to patients and the public on PGx due to their accessible position at the patient interface8,10,22,30,36,37
  • Establishing, choosing, recommending, and ordering PGx tests10,11,35,36,37,38
  • Performing PGx sampling and testing8,10,33,34,36,37,40
  • PGx data collection, analysis and management8.10,11,36,37,38,40
  • Making recommendations on pharmacotherapy based on PGx results8,10,11,15,23,30,35,36,37,38,40
  • Medicines optimisation, therapeutic drug monitoring and dose adjustment based on PGx results8,10,31, 35,36,37,38,40,41
  • Providing advice to patients on how their genetic material will be used and how test results may affect current or future treatments8,23,30,36,37
  • Educating other healthcare professionals on PGx8,40
  • Developing and interpreting PGx processes, guidelines and other publications8,10,37
  • Supporting, contributing and leading PGx research8,43,45
  • Contributing to PGx networks and committees8
  • Helping the development of infrastructure and creating PGx technologies for implementation in the healthcare sector.42

Recommendations to support pharmacy and PGx implementation across healthcare systems 

1. Workforce and Education

  • To ensure that pharmacy teams are integrated into the PGx multidisciplinary teams and provide clinical and professional leadership within clinical PGx delivery across England, Scotland and Wales
  • A comprehensive workforce strategy and fully resourced genomics education and training should be provided at all stages of pharmacy education. This must be related to clinical PGx competency requirements in line with all multidisciplinary professionals involved in delivery of PGx. This should involve:
    1. Integrating comprehensive PGx training (including aspects of PGx implementation) into undergraduate curriculum for pharmacy students
    2. Addressing the various levels of postgraduate genomics knowledge and understanding needed by pharmacy professionals dependent on their role in PGx delivery
  • Further development of the GB-wide genomic champion networks for pharmacists and other members of the pharmacy team, to signpost and raise awareness of genomics to all members of the wider multidisciplinary team.

2. Support and infrastructure

  • Integration of genomics information into electronic health records accessible to all healthcare professionals involved in patient care
  • Development of tools and guidance integrated into IT systems to support clinical decision-making with access across different healthcare sectors by all members of the wider multidisciplinary team
  • Ensuring a streamlined and well-resourced approach to how PGx testing is implemented into clinical practice, with appropriate multidisciplinary referral pathways available and multidisciplinary roles defined within updated clinical pathways.

3. Management and establishing the governance around testing strategies

  • Pharmacists to ensure appropriate governance (i.e. risk assessments) are in place within PGx implementation including aspects such as the obtaining and storing of relevant data, the interpretation of PGx test results and inclusion of the test process within established clinical pathways
  • Regulators such as MHRA must develop robust approval processes and quality assurance frameworks to ensure safety, validity, and appropriate clinical utility of any forms of direct-to-consumer genomic and PGx testing.

4. Patient and public engagement

Working with governments, NHS, patient representative groups, organisations and the public, there must be:

  • A nationwide public health awareness and engagement campaign to raise patient and public awareness and confidence in PGx
  • Shared decision-making between patients, families, carers and healthcare professionals to make informed decisions around their treatment, whilst translating complex information into ‘patient friendly’ language; patients and the public must be involved in service design for the NHS
  • Good communication links with patients’ representation, the public and the media, and patient care must remain the main focus in all PGx developments.
    •

5. Research

Opportunities and funding must be available for pharmacists and pharmacy teams to lead and participate in PGx research. Research will allow continual improvement in service delivery to maximise patient benefit. 

Examples of research areas we would like pharmacy to have further involvement in include:

  • Pharmacy’s leadership role and involvement in PGx delivery across England, Scotland and Wales
  • Refining existing drug-gene relationships and identifying new gene-drug pairs
  • The impact, benefits and efficacy of PGx implementation on patient care related to factors, such as medication safety and medicines optimisation
  • Exploration of the similarities and differences of PGx within diverse patient populations, e.g. sex, ethnicity, age and socio-economic groups
  • Patient and public focussed research on understanding uptake, acceptance, equity of access, ethical, legal and social issues around the use of PGx.

Next steps

There is a clear role for pharmacy as a leader in the implementation of PGx across all healthcare sectors. 

Collaboration is needed across stakeholders to support the delivery and implementation of these recommendations. This will ensure a high level of patient safety and care is achieved throughout the implementation of pharmacogenomic services.

RPS is committed to:

  • Raising awareness of PGx and demystifying pharmacy’s involvement in PGx by development and delivery of appropriate educational resources
  • Supporting the understanding of how PGx can and will increasingly influence treatment decisions to all stakeholders
  • Working with other multi-professionals and national organisations to ensure patients are at the centre of our approach to the implementation of PGx
  • Ensuring strong pharmacy leadership to establish pharmacy's role at the forefront of the PGx implementation by working with stakeholders across GB
  • Developing a PGx professional network across Great Britain to enable the sharing of best practice, create collaboration within areas such as research and education and support links with other genomics/pharmacogenomics forums.

References

1. The NHS Long Term Plan. NHS England. 2019. Available online at https://www.longtermplan.nhs.uk (accessed on 1.03.22).
2. A Fairer Healthier Scotland. NHS Scotland. 2017. Available online at http://www.healthscotland.scot/publications/a-fairer-healthier-scotland (accessed 27.03.22)
3. A Healthier Wales. Our Plan for Health and Social Care. NHS Wales. 2019. Available online at https://gov.wales/healthier-wales-long-term-plan-health-and-social-care (accessed 27.03.22)
4. Department of Health and Social Care. Genome UK: The future of healthcare. (2020) https://www.gov.uk/government/publications/genome-uk-the-future-of-healthcare (last accessed 12-4-22)
5. Department of Health and Social Care. Genome UK: Shared commitment for UK implementation (2022) https://www.gov.uk/government/publications/genome-uk-shared-commitments-for-uk-wideimplementation-2022-to-2025/genome-uk-shared-commitments-for-uk-wide-implementation-2022- to-2025 (last accessed 12-4-22)
6. International Consortium Completes Human Genome Project - All Goals Achieved; New Vision for Genome Research Unveiled. National Human Genome Research Institute. 2003. Available online at https://www.genome.gov/11006929/2003-release-international-consortium-completes-hgp (accessed on 8 March 2022).
7. The 100,000 Genomes Project. Genomic England. Available online at https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project (accessed on 11 February 2022).
8. Owusu-Obeng A, Weitzel K.W, Hatton R.C., et al. Emerging roles for pharmacists in clinical implementation of pharmacogenomics. Pharmacotherapy. 2014;34(10):1102-1112. DOI:10.1002/phar.1481.
9. Aneesh TP, Sonal S.M., Asha J. et al. Pharmacogenomics: The right drug to the right person. J Clin Med Res. 2009; 1(4): 191–194. DOI:10.4021/jocmr2009.08.1255
10. Haga S.B, LaPointe S.M, Cho A., et al. Pilot study of pharmacist-assisted delivery of pharmacogenetic testing in a primary care setting. Pharmacogenomics. 2014;15(13):1677-86. DOI:10.2217/pgs.14.109.
11. Youssef E, Kirkdale C.L., Wright D.J., et al. Estimating the potential impact of implementing preemptive pharmacogenetic testing in primary care across the UK. British Journal Clinical Pharmacology. 2020;87: 2907-2925. DOI: https://doi.org/10.1111/bcp.14704
12. Dervieux T, Brennan F, Scott R., et. al. Pharmacogenetic testing: proofs of principle and pharmacoeconomic implications. Mutation Research. 2005;573: 180–194. DOI: 10.1016/j.mrfmmm.2004.07.025.
13. Maciel A, Cullors A, Lukowiaket A.A., et al. Estimating cost savings of pharmacogenetic testing for depression in real-world clinical settings. Neuropsychiatr Dis Treat. 2018; 14: 225–230. DOI:10.2147/NDT.S145046.
14. BPS/RCP. Personalised Prescribing: Using pharmacogenomics to improve patient outcomes. 2022. /https://www.bps.ac.uk/getmedia/b43a3dca-1bbf-4bff-9379-20bef9349a8c/Personalisedprescribing-full-report.pdf.aspx. (last accessed 09-5-22)
15. Breaux, S., Desrosiers, F. A. D., Neira, M., et al. Pharmacogenomics at the point of care: a community pharmacy project in British Columbia. Journal of Personalized Medicine. 2021; 11(1):11. DOI: 10.3390/jpm11010011
16. Wright D. Targeted medicines: how pharmacists can lead a pharmacogenomics revolution. Clinical Pharmacist. 2018;10(6). DOI:10.1211/CP.2018.20204938.
17. Streetman DS. Emergence and evolution of pharmacogenetics and pharmacogenomics in clinical pharmacy over the past 40 years. Annals of Pharmacotherapy. 2007;41(12):2038–2041. DOI:10.1345/aph.1K273.
18. Robinson J. Q&A: Why pharmacists must prepare for precision medicine. The Pharmaceutical Journal. 2017;299(7904). DOI: 10.1211/PJ.2017.20203118.
19. Wang, Y. T., Merl, M. Y., Yang, J., et al. Opportunities for pharmacists to integrate pharmacogenomics into clinical practice. The Pharmacogenomics Journal. 2020;
20. (2): 169-178. DOI: 10.1038/s41397-019-0119-8 20. Elewa, H., Awaisu, A. Pharmacogenomics in pharmacy practice: current perspectives. Integrated Pharmacy Research & Practice. 2019; 8: 97. DOI: 10.2147/IPRP.S180154
21. Bright D.R., et. al. Implementation of a pharmacogenetic management service for post myocardial infarction care in a community pharmacy. Per Med. 2015;12(4):319-325. DOI: 10.2217/pme.15.7 22. Arwood, M. J., et al. Design and early implementation successes and challenges of a pharmacogenetics consult clinic. Journal of Clinical Medicine. 2020;9(7): 2274. DOI: 10.3390/jcm9072274
23. Bank, P. C., et al. A pilot study of the implementation of pharmacogenomic pharmacist initiated preemptive testing in primary care. European Journal of Human Genetics. 2019; 27(10): 1532-1541. DOI: 10.1038/s41431-019-0454-x
24. Bättig, V. A., et al. Pharmacogenetic testing in depressed patients and interdisciplinary exchange between a pharmacist and psychiatrists results in reduced hospitalization times. Pharmacopsychiatry. 2020;53(04): 185-192. DOI: 10.1055/a-1096-1171
25. Cicali, E. J., Weitzel, K. W., Elsey, A. R., et al. (2019). Challenges and lessons learned from clinical pharmacogenetic implementation of multiple gene–drug pairs across ambulatory care settings. Genet Med. 2019;21(10): 2264-2274. DOI: 10.1038/s41436-019-0500-7
26. Haga, S. B., Mills, R., Moaddeb, J., et al. Independent Community Pharmacists’ Experience in Offering Pharmacogenetic Testing. Pharmacogenomics and Personalized Medicine. 2021;14: 877– 886. DOI: 10.2147/PGPM.S314972
27. Liko, I., Corbin, L., Tobin, E., et al. Implementation of a pharmacist-provided pharmacogenomics service in an executive health program. American Journal of Health-System Pharmacy. 2021;78(12): 1094-1103. DOI: 10.1093/ajhp/zxab137
28. Luczak, T. S., Schillo, P. J., Renier, C. M., et al. Feasibility of pre-emptive pharmacogenetic testing in colorectal cancer patients within a community oncology setting. Journal of Oncology Pharmacy Practice. 2022; 28(4):842-849. DOI: 10.1177/10781552211005529
29. Papastergiou, J., Quilty, L. C., Li, W., Thiruchselvam, T., et al. Pharmacogenomics guided versus standard antidepressant treatment in a community pharmacy setting: A randomized controlled trial. Clinical and Translational Science. 2021;14(4): 1359-1368. DOI: 10.1111/cts.12986
30. Patel, J. N., Boselli, D., Hamadeh, I. S., et al. Pain management using clinical pharmacy assessments with and without pharmacogenomics in an oncology palliative medicine clinic. Journal of Oncology Practice, 2020; 16(2): e166-e174. DOI: 10.1200/JOP.19.00206
31. Thornley, T., Esquivel, B., Wright, D. J., et al. Implementation of a Pharmacogenomic Testing Service through Community Pharmacy in the Netherlands: Results from an early service evaluation. Pharmacy (Basel). 2021; 9(1): 38. DOI: 10.3390/pharmacy9010038
32. Van der Wouden, C. H., Bank, P. C., Özokcu, K., et al. Pharmacist-initiated pre-emptive pharmacogenetic panel testing with clinical decision support in primary care: record of PGx results and real-world impact. Genes (Basel). 2019; 10(6): 416. DOI: 10.3390/genes10060416
33. Crews K.R., et al. Development and implementation of a pharmacist-managed clinical pharmacogenetics service. American Journal of Health-System Pharmacy. 2011;68(2):143-50. DOI:10.2146/ajhp100113.
34. Mills R, Haga SB. The Clinical delivery of pharmacogenetic testing services: a proposed partnership between genetic counselors and pharmacists. Pharmacogenomics. 2013;14(8):957-68. DOI:10.2217/pgs.13.76.
35. Haga SB, et al. Primary care providers' use of pharmacist support for delivery of pharmacogenetic testing. Pharmacogenomics. 2017;18(4):359-367. DOI:10.2217/pgs-2016-0177.
36. Johnson SG, et al. Feasibility of clinical pharmacist-led CYP2C19 genotyping for patients receiving non-emergent cardiac catheterization in an integrated health system. Pharmacy Practice (Granada). 2017;15(2):946. DOI:10.18549/PharmPract.2017.02.946.
37. Papastergiou J, et. al. The Innovative Canadian Pharmacogenomic Screening Initiative in Community Pharmacy (ICANPIC) study. Journal of the American Pharmacists Association. 2017;57(5):624-629. DOI: 10.1016/j.japh.2017.05.006.
38. Bain K.T, et al. Implementation of a pharmacist-led pharmacogenomics service for the Program of All-Inclusive Care for the Elderly (PHARM-GENOME-PACE). Journal of the American Pharmacists Association. 2018;58(3):281-289.e1. DOI:10.1016/j.japh.2018.02.011.
39. Rodríguez-Arcas MJ, et. al. Pharmacotherapeutic follow-up and pharmacogenetics of CYP2C9 and CYP3A4 in antihypertensive therapy: A pilot study in a community pharmacy. Ther Innov Regul Sci. 2013;47(4):489-494. DOI: 10.1177/2168479013492736
40. Elhassan GO, et al. Role of pharmacists in pharmacogenomics. Journal of Pharmacovigilance. 2017;5:3. DOI:10.4172/2329-6887.1000e170.
41. Hicks, J. K., Aquilante, C. L., Dunnenberger, H. M., et al. Precision pharmacotherapy: integrating pharmacogenomics into clinical pharmacy practice. Journal of the American College of Clinical Pharmacy. 2019;2(3):303-313. DOI: 10.1002/jac5.1118
42. Guy, J. W., Patel, I., & Oestreich, J. H. Clinical application and educational training for pharmacogenomics. Pharmacy. 2020;8(3):163. DOI: 10.3390/pharmacy8030163
43. Hayashi, M., Hamdy, D. A., & Mahmoud, S. H. Applications for pharmacogenomics in pharmacy practice: A scoping review. Research in Social and Administrative Pharmacy. 2021. S1551- 7411(21)00313-2. DOI: 10.1016/j.sapharm.2021.08.009
44. Hansen, J. M., Nørgaard, J. D., & Sporrong, S. K. A systematic review of pharmacogenetic testing in primary care: Attitudes of patients, general practitioners, and pharmacists. Research in Social and Administrative Pharmacy. 2021. S1551-7411(21)00387-9. DOI: 10.1016/j.sapharm.2021.12.002.
45. Turner R, Newman W, Bramon E et al. Pharmacogenomics in the UK National Health Service: Opportunities and challenges. Pharmacogenomics. 2020; 21(17):1237-1246. DOI: 10.2217/pgs- 2020-0091.Instrumental]