BACKGROUND: Somatic and germline genetic alterations are significant drivers of cancer. Increasing integration of new technologies which profile these alterations requires timely, equitable and high-quality genetic counselling to facilitate accurate diagnoses and informed decision-making by patients and their families in preventive and clinical settings. This article aims to provide an overview of genetic counselling legislation and practice across European Union (EU) Member States to serve as a foundation for future European recommendations and action. METHODS: National legislative databases of all 27 Member States were searched using terms relevant to genetic counselling, translated as appropriate. Interviews with relevant experts from each Member State were conducted to validate legislative search results and provide detailed insights into genetic counselling practice in each country. RESULTS: Genetic counselling is included in national legislative documents of 22 of 27 Member States, with substantial variation in legal mechanisms and prescribed details (i.e. the 'who, what, when and where' of counselling). Practice is similarly varied. Workforce capacity (25 of 27 Member States) and genetic literacy (all Member States) were common reported barriers. Recognition and/or better integration of genetic counsellors and updated legislation and were most commonly noted as the 'most important change' which would improve practice. CONCLUSIONS: This review highlights substantial variability in genetic counselling across EU Member States, as well as common barriers notwithstanding this variation. Future recommendations and action should focus on addressing literacy and capacity challenges through legislative, regulatory and/or strategic approaches at EU, national, regional and/or local levels.

Cancer Centre Department of Epidemiology and Public Health Sciensano Brussels Belgium

Center for Medical Genetics Ghent University Hospital Ghent Belgium

CGPP Centre for Predictive and Preventive Genetics Institute for Molecular and Cell Biology University of Porto Porto Portugal

Clinical Genetics Centre for Ophthalmology The Mater Misericordiae University Hospital Dublin Ireland

Clinical Genetics Department The Cyprus Institute of Neurology and Genetics Nicosia Cyprus

Département de Génétique Institut Curie Paris France

Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands

Department of Clinical Genetics HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland

Department of Clinical Genetics Pathology and Molecular Diagnostics Office for Medical Services Region Skane Lund Sweden

Department of Clinical Genetics University Hospital of Copenhagen Rigshospitalet Copenhagen Denmark

Department of Clinical Medicine Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark

Department of Human Genetics Hannover Medical School Hannover Germany

Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

Department of Internal Medicine Erasmus Medical Center Rotterdam The Netherlands

Department of Laboratory Medicine University of Debrecen Medical and Health Science Center Debrecen Hungary

Department of Medical Genetics Medical University of Sofia Sofia Bulgaria

Department of Medical Genetics Medical University of Warsaw Warsaw Poland

Department of Medical Genetics Unilabs Spišská Nová Ves Slovakia

Department of Microscopic Morphology Genetics Discipline Center of Genomic Medicine University of Medicine and Pharmacy Victor Babes Timisoara Romania

Department of Paediatrics University Hospital Center Zagreb and University of Zagreb School of Medicine Zagreb Croatia

Department of Tumor Biology and Genetics Medical University of Warsaw Warsaw Poland

Division of Clinical Genetics Department of Laboratory Medicine Lund University Lund Sweden

Eberly College of Science The Pennsylvania State University University Park PA USA

European Alliance for Personalised Medicine Brussels Belgium

Faculty of Dental Medicine and Health Josip Juraj Strossmayer University of Osijek Osijek Croatia

Faculty of Medicine Department of Human and Medical Genetics Institute of Biomedical Sciences Vilnius University Vilnius Lithuania

Faculty of Medicine Josip Juraj Strossmayer University of Osijek Osijek Croatia

Genetics and Personalized Medicine Clinic Tartu University Hospital Tartu Estonia

Hereditary Cancer Program Catalan Institute of Oncology IDIBGI Girona Spain

ICBAS School of Medicine and Biomedical Sciences University of Porto Porto Portugal

INSERM U830 Université Paris Cité Paris France

Institute for Epidemiology Social Medicine and Health System Research Hannover Medical School Hannover Germany

Institute of Applied Biosciences Centre for Research and Technology Hellas Thessaloniki Greece

Institute of Clinical and Preventive Medicine University of Latvia Riga Latvia

Institute of Genomics Faculty of Science and Technology University of Tartu Tartu Estonia

Institute of Hematology and Blood Transfusion Prague Czech Republic

Institute of Oncology Ljubljana Ljubljana Slovenia

Institute of Pediatrics Faculty of Medicine University of Debrecen Debrecen Hungary

Labdia Labordiagnostik Vienna Austria

Mater Dei Hospital Msida Malta

Medical School REGIOMED Coburg Germany

Medical School University of Rijeka Rijeka Croatia

Medical School University of Split Split Croatia

Ministry for Health Valleta Malta

National Center of Genetics Laboratoire National de Santé Dudelange Luxembourg

Regional Center of Medical Genetics Timis Clinical Emergency Hospital for Children Louis Turcanu part of ERN ITHACA Timisoara Romania

Riga East Clinical University Riga Latvia

Sezione di Medicina Genomica Dipartimento di Scienze della Vita e Sanità Pubblica Università Cattolica del Sacro Cuore Rome Italy

St Anna Children's Cancer Research Institute Vienna Austria

St Catherine Specialty Hospital Zagreb Croatia

State Research Institute Center for Innovative Medicine Vilnius Lithuania

The Henry C Lee College of Criminal Justice and Forensic Sciences University of New Haven West Haven CT USA

UOC Genetica Medica Dipartimento di Scienze di Laboratorio e Infettivologiche Fondazione Policlinico Universitario A Gemelli IRCCS Rome Italy

See more in PubMed

Ding L, Bailey MH, Porta-Pardo E, et al.  Perspective on oncogenic processes at the end of the beginning of cancer genomics. Cell  2018;173:305–20.e10. PubMed PMC

Dyba T, Randi G, Bray F, et al.  The European cancer burden in 2020: incidence and mortality estimates for 40 countries and 25 major cancers. Eur J Cancer  2021;157:308–47. PubMed PMC

Taber KAJ, Dickinson BD, Wilson M.  The promise and challenges of next-generation genome sequencing for clinical care. JAMA Intern Med  2014;174:275–80. PubMed

Abacan M, Alsubaie L, Barlow-Stewart K, et al.  The global state of the genetic counseling profession. Eur J Hum Genet  2019;27:183–97. PubMed PMC

Resta R, Biesecker BB, Bennett RL, et al.  A new definition of genetic counseling: National Society of Genetic Counselors’ task force report. J Genet Couns  2006;15:77–83. PubMed

Bensend TA, Veach PM, Niendorf KB.  What’s the harm? Genetic counselor perceptions of adverse effects of genetics service provision by non-genetics professionals. J Genet Couns  2014;23:48–63. PubMed

Borry P, Nys H, Goffin T, Dierickx K. Genetic Testing and Counselling: European Guidance. Report No.: 9033465795. Katholieke Universiteit, Centre for Biomedical Ethics and Law, 2007.

Rantanen E, Hietala M, Kristoffersson U, et al.  Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives. Eur J Hum Genet  2008;16:1208–16. PubMed

Dragojlovic N, Borle K, Kopac N, et al.  The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review. Genet Med  2020;22:1437–49. PubMed

Dragojlovic N, Kopac N, Borle K, et al.  Utilization and uptake of clinical genetics services in high-income countries: a scoping review. Health Policy  2021;125:877–87. PubMed

Adeoye‐Olatunde OA, Olenik NL.  Research and scholarly methods: semi‐structured interviews. J Am Coll Clin Pharm  2021;4:1358–67.

Angers A, Bohacova A, Kaye J, et al. Overview of EU national legislation on genomics. 2018. Available at: https://op.europa.eu/en/publication-detail/-/publication/503c92f7-ff55-11e8-a96d-01aa75ed71a1 (7 March 2023, date last accessed).

Council of Europe. Convention on Human Rights and Biomedicine. 1997. Available at: https://rm.coe.int/168007cf98 (3 March 2023, date last accessed).

Council of Europe. Additional Protocol to the Convention on Human Rights and Biomedicine Concerning Genetic Testing for Health Purposes. 2008. Available at: https://rm.coe.int/1680084824 (3 March 2023, date last accessed). PubMed

European Parliament. Regulation 2017/746 on In Vitro Diagnostic Medical Devices and Repealing Directive 98/79/EC and Commission Decision 2010/227/EU. 2017. Available at: https://eur-lex.europa.eu/legal-content/EN/TXT/PDF/?uri=CELEX:32017R0746 (30 June 2023, date last accessed).

National Institute for Health and Disability Insurance (Belgium). Agreement Between the Medical Care Insurance Committee and the Centres for Human Heredity for Benefits in Kind Concerning Genetic Disorders: Genetic Counselling, DNA Tests Carried Out Abroad. 2011. Available at: https://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=&cad=rja&uact=8&ved=2ahUKEwjjhb-ew4aAAxXUXaQEHecsCucQFnoECA0QAw&url=https%3A%2F%2Fwww.college-genetics.be%2Fpdf%2FConventieGeneticsCounsellor.pdf&usg=AOvVaw3m-ExyIxVRhAjES-UTaWLQ&opi=89978449 (7 July 2023, date last accessed).

Chamber of Deputies of Luxembourg. Hospital Law. 2018. Available at: https://www.legilux.public.lu/eli/etat/leg/loi/2018/03/08/a222/jo. (1 November 2023, date last accessed).

Secretary of State for Health Welfare and Sport (Netherlands). Planning Decision on Clinical Genetic Research and Genetic Counselling. 1998. Available at: https://wetten.overheid.nl/BWBR0014594/2018-08-01 (4 May 2023, date last accessed).

Ministry of Health (Bulgaria). Medical Standards for Medical Genetics. 2010. Available at: https://www.mh.government.bg/media/filer_public/2015/11/18/medicinska-genetika.pdf (23 June 2023, date last accessed).

Ministry of Health (Lithuania). Order of the Ministry of Health V-745 (2012). 2012. (10 March 2023, date last accessed).

Ministry of Health (Slovakia). The Concept of Healthcare in the Department of Medical Genetics. 2014. Available at: https://www.google.com/url?sa=i&rct=j&q=&esrc=s&source=web&cd=&ved=0CAIQw7AJahcKEwjo8_zo2Pf_AhUAAAAAHQAAAAAQAw&url=https%3A%2F%2Fwww.health.gov.sk%2FZdroje%3F%2FSources%2Fdokumenty%2Fvestniky_mz_sr%2F2014%2Fvestnik-21-22-2014.pdf&psig=AOvVaw3qpmyEymuaiTA8ZT3Bt5Sz&ust=1688650864404466&opi=89978449 (23 June 2023, date last accessed).

Ministry of Health (Italy). Guidelines for Medical Genetics. 2004. Available at: https://www.gazzettaufficiale.it/eli/id/2004/09/23/04A09280/sg (19 April 2023, date last accessed).

Ministry of Health (Romania). Establishment of the Medical Genetics Network. 2014. Available at: https://legislatie.just.ro/Public/DetaliiDocument/163135 (22 June 2023, date last accessed).

Barlow-Stewart K, Yeo SS, Meiser B, et al.  Toward cultural competence in cancer genetic counseling and genetics education: lessons learned from Chinese-Australians. Genet Med  2006;8:24–32. PubMed

Allford A, Qureshi N, Barwell J, et al.  What hinders minority ethnic access to cancer genetics services and what may help?  Eur J Hum Genet  2014;22:866–74. PubMed PMC

Stenzinger A, Moltzen EK, Winkler E, et al.  Implementation of precision medicine in healthcare – a European perspective. J Intern Med  2023;294:437–54. PubMed

Tecklenburg J, Vajen B, Morlot S, et al.  OnkoRiskNET: a multicenter, interdisciplinary, telemedicine-based model to improve care for patients with a genetic tumor risk syndrome. BMC Health Serv Res  2022;22:1–8. PubMed PMC

World Health Organization. Global Strategy on Human Resources for Health: Workforce 2030. 2016.

European Union of Medical Specialists. European Training Requirements for the Specialty of Medical Genetics. 2023. Available at: https://www.uems.eu/__data/assets/pdf_file/0007/47518/ETR_Clinical-Genetics_approved.pdf (7 October 2023, date last accessed).

Otten E, Birnie E, Ranchor AV, van Langen IM.  Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care. Eur J Hum Genet  2016;24:513–20. PubMed PMC

Welch BM, Wiley K, Pflieger L, et al.  Review and comparison of electronic patient-facing family health history tools. J Genet Couns  2018;27:381–91. PubMed PMC

Bucheit L, Johansen Taber K, Ready K.  Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes. Hered Cancer Clin Pract  2019;17:2–10. PubMed PMC

van der Giessen J, Fransen MP, Spreeuwenberg P, et al.  Communication about breast cancer genetic counseling with patients with limited health literacy or a migrant background: evaluation of a training program for healthcare professionals. J Commun Genet  2021;12:91–9. PubMed PMC

Little ID, Koehly LM, Gunter C.  Understanding changes in genetic literacy over time and in genetic research participants. Am J Human Genet  2022;109:2141–51. PubMed PMC

European Partnership for Personalised Medicine. The Strategic Research & Innovation Agenda (SRIA) for Personalised Medicine (PM). 2023. Available at: https://www.icpermed.eu/media/content/EPPerMed-SRIA.pdf (1 November 2023, date last accessed).