Abstract
Pharmacogenetics innovation in biomedicine has fostered new hope in pharmacotherapeutics and in the prevention and management of adverse drug reactions. Proponents argue that pharmacogenetics will improve drug safety and efficacy while also revolutionising marketing. Integral to this survey is the recognition that pharmacogenetics has been hailed as a revolutionary frontier within biomedicine. This expectation amplifies the anticipation and promise associated with the emergence of new biotechnologies. This progress, however, raises several policy concerns with the need to balance the creation of a unified legal framework. We outline the European regulatory framework, and discuss the current challenges and opportunities related to licensing, the development of innovative medicines, cost-effectiveness, resource allocation, and stratification. There is the need to substantiate the value of a regulatory framework and vigilant monitoring to ensure equitable access and just distribution of the benefits of pharmacogenetics in Europe.
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References
Beauchamp, T.L., and J.F. Childress. 2001. Principles of Biomedical Ethics. New York: Oxford University Press.
Beccia, F., I. Hoxhaj, C. Castagna, T. Strohaker, C. Cadeddu, W. Ricciardi, and S. Boccia. 2022. An overview of Personalized Medicine landscape and policies in the European Union. European Journal of Public Health 32 (6): 844–851.
Bielinski, S.J., J.L. St Sauver, J.E. Olson, M.L. Wieland, C.R. Vitek, E.J. Bell, M.E. Mc Gree, D.J. Jacobson, J.B. McCormick, P.Y. Takahashi, J.L. Black, P.J. Caraballo, R.R. Sharp, T.J. Beebe, R.M. Weinshilboum, L. Wang, and V.L. Roger. 2017. Are patients willing to incur out-of-pocket costs for pharmacogenomic testing? The Pharmacogenomics Journal 17 (1): 1–3.
Boccia, S., A. Federici, R. Siliquini, G.E. Calabrò, and W. Ricciardi. 2017. Implementation of genomic policies in Italy: The new National Plan for innovation of the Health System based on omics sciences. Epidemiology Biostatistics and Public Health 14: 4.
Bogaert, P., Wawrzyniak, A., Handy, E., and Dirkzwager, R. 2023. EU Pharma Legislation Review Series: Orphan Medicines. Retrieved Aug 12, 2023 from https://rb.gy/xylrp
Butnariu, A., G. Samaşca, and I. Lupan. 2015. Ethical implications in pharmacogenetics and pharmacogenomics. Medical Connections 10 (4): 41–44.
Charter of fundamental rights of the European Union (2000/c364/01). 2000. Official Journal of the European Union C 364/1. Retrieved Aug 19, 2023 from https://www.europarl.europa.eu/charter/pdf/text_en.pdf
Council conclusions on innovation for the benefit of patients (2014/C 438/06). 2014. Official Journal of the European Union C 438/12. Retrieved Nov 30, 2022 from https://eur-lex.europa.eu/legalcontent/EN/TXT/PDF/?uri=CELEX:52014XG1206(03)&from=SK
Council conclusions on personalised medicine for patients (2015/C 421/03). 2015. Official Journal of the European Union C 421/2 E. Retrieved Jan 10, 2023 from https://eur-lex.europa.eu/legal-content/EN/TXT/PDF/?uri=CELEX:52015XG1217(01)&from=FR
Council conclusions: towards modern, responsive and sustainable health systems (2011/C 202/04). 2011 Official Journal of the European Union C 202/10. Retrieved Jan 9, 2023 from https://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2011:202:0010:0012:EN:PDF
Council of Europe. 2016. Additional Protocol to the Convention on Human Rights and Biomedicine concerning Genetic Testing for Health Purposes. Council of Europe Treaty Series – No. 203, 27 November. Retrieved Sep 10, 2021 from https://rm.coe.int/CoERMPublicCommonSearchServices/DisplayDCTMContent?documentId=0900001680084824
Council of Europe. 1999. Convention for the protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine (ETS No. 164), 1 December. Retrieved Aug 22, 2023 from https://www.coe.int/en/web/conventions/full-list?module=treaty-detail&treatynum=164
Czech, M., A. Baran-Kooiker, K. Atikeler, M. Demirtshyan, K. Gaitova, M. Holownia-Voloskova, et al. 2020. A review of rare disease policies and orphan drug reimbursement systems in 12 Eurasian Countries. Frontiers in Public Health 7: 416.
De Grandis, G. 2017. Pharmacogenomic inequalities: Strategies for justice in biomedical research and healthcare. Diametros 51: 153–172.
Directive 2010/84/EU of the European Parliament and of the Council of 15 December 2010 amending, as regards pharmacovigilance, Directive 2001/83/EC on the Community code relating to medicinal products for human use. 2010. Official Journal of the European Union L 348/74. Retrieved Dec 10, 2022 from https://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2010:348:0074:0099:EN:PDF
Directive 2001/83/EC on the community code relating to medicinal products for human use. 2001. Official Journal of the European Union L177/176. Retrieved Sep 10, 2021 from https://eur-lex.europa.eu/legal-content/EN/TXT/PDF/?uri=CELEX:32001L0083&from=en
Empey, P.E., V.M. Pratt, J.M. Hoffman, K.E. Caudle, and T.E. Klein. 2021. Expanding evidence leads to new pharmacogenomics payer coverage. Genetics in Medicine 23 (5): 830–832.
Horgan, D., Kalata, M., Jungwirth, R., and Van der Wal, T. 2015. Safety first: But IVD legislation must also promote innovation and access. European Alliance for Personalised Medicine. Retrieved Aug 22, 2023 from https://www.euapm.eu/articles,1,46.html
European Commission. 2020. Pharmaceutical Strategy for Europe. Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions. Retrieved Jan 27, 2023 from https://eur-lex.europa.eu/legal-content/EN/TXT/PDF/?uri=CELEX:52020DC0761&from=EN
European Medicines Agency. 2017. Personalised Medicines. Report from a workshop on personalised medicines held by EMA, 14 March. Retrieved Jan 18, 2023 from https://www.ema.europa.eu/en/documents/report/report-patients-consumers-working-party-pcwp-healthcare-professionals-working-party-hcpwp-joint_en.pdf
European Medicines Agency. 2019. Annual report on the use of the special contribution for orphan medicinal products. EMA annual report, 31 January. Retrieved Aug 18, 2021 from https://www.ema.europa.eu/en/documents/report/annual-report-use-special-contribution-orphan-medicinal-products-2018_en.pdf
European Medicines Agency. 2006. Ethnic Factors in the Acceptability of Foreign Clinical Data. EMA Guidance. Retrieved Aug 1, 2021 from https://www.ema.europa.eu/en/documents/scientific-guideline/ich-e-5-r1-ethnic-factors-acceptability-foreign-clinical-data-step-5_en.pdf
European Medicines Agency. 2015. Guideline on key aspects for the use of pharmacogenomics in the pharmacovigilance of medicinal products, 24 September. Retrieved Dec 23, 2022 from https://www.ema.europa.eu/en/documents/scientific-guideline/guideline-key-aspects-use-pharmacogenomics-pharmacovigilance-medicinal-products_en.pdf
European Medicines Agency. 2018. Guideline on good pharmacogenomic practice, 22 February. Retrieved Sept 10, 2021 from https://www.ema.europa.eu/en/documents/scientific-guideline/guideline-good-pharmacogenomic-practice-first-version_en.pdf
Union, European. 2012. Charter of Fundamental Rights of the European Union (2012/C 326/02). Official Journal of the European Union, C 326: 2–22.
Gawronski, B.E., E.J. Cicali, C.W. McDonough, L.B. Cottler, and J.D. Duarte. 2023. Exploring perceptions, knowledge, and attitudes regarding pharmacogenetic testing in the medically underserved. Frontiers in Genetics 13: 1085994.
Grech, G., and I. Grossman. 2015. Preventive and Predictive Genetics: Towards Personalised Medicine. Cham: Springer.
Hedge, D., and B. Sampat. 2015. Can private money buy public science? Disease group lobbying and federal funding for biomedical research. Management Science 61 (10): 2281–2298.
Hedgecoe, A. 2004. The Politics of Personalised Medicine Pharmacogenetics in the Clinic. University of Sussex: Cambridge University Press.
Hedgecoe, A., and P. Martin. 2003. The drugs don’t work: Expectations and the shaping of pharmacogenetics. Social Studies of Science 33 (3): 327–364.
Henning, S.E. 2017. Companion diagnostics for personalised medicines - the regulatory framework for their (co-)registration in the EU and USA. Bonn, Germany: Master of Drug Regulatory Affairs, Rhenish Friedrich Wilhelms University.
Hult, K. 2017. Measuring the Potential Health Impact of Personalized Medicine: Evidence from MS Treatments. Economic Dimensions of Personalized and Precision Medicine. Chicago: University of Chicago Press.
Husereau, D., D.A. Marshall, A.R. Levy, S. Peacock, and J.S. Hoch. 2014. Health technology assessment and personalized medicine: Are economic evaluation guidelines sufficient to support decision making? International Journal of Technology Assessment in Health Care 30 (2): 179–187.
Jørgensen, J.T., and M. Hersom. 2016. Companion diagnostics - A tool to improve pharmacotherapy. Annals of Translational Medicine 4 (24): 482.
Kesselheim, A.S. 2010. B Innovation and the Orphan Drug Act, 1983s–2009s: Regulatory and Clinical Characteristics of Approved Orphan Drugs. In Accelerating Rare Diseases Research and Orphan Product Development, ed. M.J. Field and T.F. Boat, 5–24. Washington, DC: National Academy of Science Press.
Kasperbauer, T.J., and P.H. Schwartz. 2020. Genetic data aren’t so special: Causes and implications of reidentification. Hastings Center Report 50 (5): 30–39. https://doi.org/10.1002/hast.1183.
Maas A. 2021. With drug-diagnostic co-development, firms must ensure priorities, goals align. Precision for Medicine Group article. Retrieved Sept 8, 2021 from https://www.precisionformedicine.com/with-drug-diagnostic-co-development-firms-must-ensure-priorities-goals-align/
Martin, P., and M. Morrison. 2006. Realising the Potential of Genomic Medicine. London: Royal Pharmaceutical Society of Great Britain.
Morris, S.A., A.T. Alsaidi, A. Verbyla, A. Cruz, C. Macfarlane, J. Bauer, and J.N. Patel. 2022. Cost effectiveness of pharmacogenetic testing for drugs with Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines: A systematic review. Clinical Pharmacology & Therapeutics 112 (6): 1318–1328.
Nuffield Council on Bioethics. 2003. Pharmacogenetics: Ethical Issues. London: Nuffield Council on Bioethics.
Oates, J.T., and D. Lopez. 2018. Pharmacogenetics: An important part of drug development with a focus on its application. International Journal of Biomedicine Investigation 1: 2.
PerMed. 2022. Shaping Europe’s Vision for Personalised Medicine Strategic Research and Innovation Agenda (SRIA), June. Retrieved Dec 1, 2022 from https://www.icpermed.eu/media/content/PerMed_SRIA.pdf
Peterson-Iyer, K. 2008. Pharmacogenomics, Ethics, and Public Policy. Markkula Center for Applied Ethics article, 1 June. Retrieved Aug 9, 2021 from https://www.scu.edu/ethics/focus-areas/bioethics/resources/pharmacogenomics-ethics-and-public-policy/
Prainsack, B. 2015. Is personalized medicine different? (Reinscription: the sequel). A response to Troy Duster. The British Journal of Sociology 66 (1): 28–35.
Regier, D.A., D.L. Veenstra, A. Basu, and J.J. Carlson. 2020. Demand for precision medicine: A discrete-choice experiment and external validation study. PharmacoEconomics 38 (1): 57–68.
Regulation (EC) no 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products. 2000. Official Journal of the European Communities L18, pp. 1–5.
Regulation (EU) 2017/746 of the European Parliament and of the Council of 5 April 2017 on in vitro diagnostic medical devices and repealing Directive 98/79/EC and Commission Decision 2010/227/EU. 2017. Official Journal of the European Union L117/176. Retrieved Sept 14, 2021 from https://eur-lex.europa.eu/eli/reg/2017/746/oj
Regulation (EU) 2021/2282 of the European Parliament and of The Council of 15 December 2021on health technology assessment and amending Directive 2011/24/EU. 2021. Official Journal of the European Union L 458/1. Retrieved Aug 18, 2023 from https://eur-lex.europa.eu/legal-content/EN/TXT/HTML/?uri=CELEX:32021R2282
Reid, S.T. 2021. Commercial considerations for a successful CDx. NeoGenomics Pharma Services White Paper. Retrieved Sept 7, 2021 from https://neogenomics.com/sites/default/files/2021-07/CDx_Whitepaper_060921_Final.pdf
Rothstein, M.A. 2005. Liability issues in pharmacogenomics. Proceedings of the genomics revolution? Science, Law and Policy 66 (5): 117–124.
Shah, R.R., and A. Gaedigk. 2018. Precision medicine: Does ethnicity information complement genotype-based prescribing decisions? Therapeutic Advances in Drug Safety 9 (1): 45–62.
Shapiro, H.T. 1999. Reflections on the interface of bioethics, public policy and science. Kennedy Institute of Ethics 9 (3): 209–224.
Sirugo, G., S.M. Williams, and S.A. Tishkoff. 2019. The missing diversity in human genetic studies. Cell 177 (1): 26–31.
Stewart, A., P. Brice, H. Burton, P. Pharoah, S. Sanderson, and R. Zimmern. 2007. Genetics, Health Care and Public Policy. New York: Cambridge University Press.
Sun, S. 2020. Between personalized and racialized precision medicine: A relative resources perspective. International Sociology 35 (1): 90–110.
Sutrop, M. 2004. Pharmacogenetics: Ethical issues. Bioethics 18 (4): 3–8.
Verbelen, M., M.E. Weale, and C.M. Lewis. 2017. Cost-effectiveness of pharmacogenetic-guided treatment: Are we there yet? The Pharmacogenomics Journal 00: 1–8.
Tuteja, S., R.G. Salloum, A.L. Elchynski, D.M. Smith, E. Rowe, K.V. Blake, et al. 2022. Multisite evaluation of institutional processes and implementation determinants for pharmacogenetic testing to guide antidepressant therapy. Clinical and Translational Science 15 (2): 371–383.
Victora, C., J.P. Vaughan, F.C. Barros, A.C. Silva, and E. Tomasi. 2000. Explaining trends in inequalities: Evidence from Brazilian child health studies. The Lancet 356: 1093–1098.
Virapongse, A., and G.J. Misky. 2018. Self-identified social determinants of health during transitions of care in the medically underserved: A narrative review. Journal of General Internal Medicine 33 (11): 1959–1967.
Vozikis, A., D.N. Cooper, C. Mitropoulou, M.E. Kambouris, A. Brand, V. Dolzan, et al. 2016. Test pricing and reimbursement in genomic medicine: Towards a general strategy. Public Health Genomics 19 (6): 352–363.
Weijer, C., and P.B. Miller. 2004. When are research risks reasonable in relation to anticipated benefits? Nature Medicine 10 (6): 570–573.
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Meli, B.A., Fenech, A.G., Cordina, M. et al. Challenges in public policy for the implementation of pharmacogenetic tests in Europe. BioSocieties (2024). https://doi.org/10.1057/s41292-023-00323-w
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DOI: https://doi.org/10.1057/s41292-023-00323-w