Genomic findings with familial implications: agenda setting in light of mainstreaming

doi:10.12688/openreseurope.19128.1

. 2025 Jan 10:5:4.

doi: 10.12688/openreseurope.19128.1. eCollection 2025.

Genomic findings with familial implications: agenda setting in light of mainstreaming

Amicia Phillips^{1

2}, Eva Van Steijvoort¹, Maria Siermann^{1

3}, Janneke M L Kuiper⁴, Álvaro Mendes^{5

6}, Sandrine de Montgolfier^{7

8}, Helle Vendel Petersen^{9

10}, Anna Rosén¹¹, Hilde Van Esch¹², Laurent Pasquier¹³, Danya F Vears^{1

14

15}, Christine Patch¹⁶, Wannes Van Hoof¹⁷, Ainsley J Newson¹⁸, Saskia Bulk¹⁹, Carla van El^{20

21}, Eline Dancet¹, Emmanuelle Rial-Sebbag²², Colin Mitchell²³, Pascal Borry¹

Affiliations

¹ Department of Public Health and Primary Care, Centre for Biomedical Ethics and Law KU Leuven, Leuven, Flanders, 3000, Belgium.
² Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, England, UK.
³ Department of Health, Ethics & Society, Maastricht University GROW School for Oncology and Reproduction, Maastricht, Limburg, The Netherlands.
⁴ Department of Sociology, Centre for Sociological Research KU Leuven, Leuven, Flanders, 3000, Belgium.
⁵ Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal.
⁶ i3S - Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal.
⁷ Aix Marseille Univ, Inserm, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale, ISSPAM, Marseille, France.
⁸ Université Paris Est Créteil, Créteil, France.
⁹ Medical department, Zealand University hospital, Nykøbing Falster, Denmark.
¹⁰ Department of people and Technology, Roskilde University, Roskilde, Denmark.
¹¹ Department of Diagnostics and Intervention, Unit of oncology, Umeå University, Umeå, Sweden.
¹² Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
¹³ Clinical genetics, Reference Center for Rares Diseases "Intellectual Disabilities", Rennes University Hospital, Rennes, France.
¹⁴ Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Australia.
¹⁵ Department of Paediatrics, University of Melbourne, Parkville, Australia.
¹⁶ Wellcome Connecting Science, Hinxton, England, UK.
¹⁷ Cancer center Sciensano, Brussels, Belgium.
¹⁸ Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
¹⁹ Service de Génétique Humaine, CHU de Liège, Liège, 4000, Belgium.
²⁰ Department of Human Genetics, Section Community Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
²¹ Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.
²² CERPOP, UMR 1295, BIOETHICS Team, INSERM, University of Toulouse, Toulouse, France.
²³ PHG Foundation, University of Cambridge, Cambridge, UK.

PMID: 40212820
PMCID: PMC11982804
DOI: 10.12688/openreseurope.19128.1

Genomic findings with familial implications: agenda setting in light of mainstreaming

Amicia Phillips et al. Open Res Eur. 2025.

. 2025 Jan 10:5:4.

doi: 10.12688/openreseurope.19128.1. eCollection 2025.

Authors

Affiliations

¹ Department of Public Health and Primary Care, Centre for Biomedical Ethics and Law KU Leuven, Leuven, Flanders, 3000, Belgium.
² Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, England, UK.
³ Department of Health, Ethics & Society, Maastricht University GROW School for Oncology and Reproduction, Maastricht, Limburg, The Netherlands.
⁴ Department of Sociology, Centre for Sociological Research KU Leuven, Leuven, Flanders, 3000, Belgium.
⁵ Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal.
⁶ i3S - Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal.
⁷ Aix Marseille Univ, Inserm, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale, ISSPAM, Marseille, France.
⁸ Université Paris Est Créteil, Créteil, France.
⁹ Medical department, Zealand University hospital, Nykøbing Falster, Denmark.
¹⁰ Department of people and Technology, Roskilde University, Roskilde, Denmark.
¹¹ Department of Diagnostics and Intervention, Unit of oncology, Umeå University, Umeå, Sweden.
¹² Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
¹³ Clinical genetics, Reference Center for Rares Diseases "Intellectual Disabilities", Rennes University Hospital, Rennes, France.
¹⁴ Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Australia.
¹⁵ Department of Paediatrics, University of Melbourne, Parkville, Australia.
¹⁶ Wellcome Connecting Science, Hinxton, England, UK.
¹⁷ Cancer center Sciensano, Brussels, Belgium.
¹⁸ Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
¹⁹ Service de Génétique Humaine, CHU de Liège, Liège, 4000, Belgium.
²⁰ Department of Human Genetics, Section Community Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
²¹ Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.
²² CERPOP, UMR 1295, BIOETHICS Team, INSERM, University of Toulouse, Toulouse, France.
²³ PHG Foundation, University of Cambridge, Cambridge, UK.

PMID: 40212820
PMCID: PMC11982804
DOI: 10.12688/openreseurope.19128.1

Abstract

An international workshop was held in Leuven, Belgium, on June 19-20, 2023, to discuss the communication of genetic risk information within families in the context of personalized prevention. Organized as part of the Horizon Europe project PROPHET (PeRsOnalised Prevention roadmap for the future HEalThcare in Europe), the event gathered interdisciplinary stakeholders to explore the benefits and challenges of various policy approaches for returning genetic test results with implications for family members. Five key themes emerged from the discussions: (1) recognizing family communication as an ongoing process, (2) adopting a family-centered approach rather than an individual one, (3) clarifying roles and responsibilities in the communication process, (4) addressing the lack of clear guidelines and policies, and (5) ensuring sufficient resources. To enhance family communication of genetic risk information, participants emphasized the importance of improving pre-test counseling and follow-up procedures, implementing policies to clarify roles and responsibilities, and providing training for healthcare professionals both within and outside genetic services.

Keywords: Family communication; cascade screening; genetic counseling; genetic risk; genetic screening; personalized prevention; policy.

Plain language summary

An international workshop took place in Leuven, Belgium, on June 19–20, 2023, to discuss how to share genetic risk information with families as part of personalized prevention. The event was organized through the Horizon Europe project PROPHET, which aims to shape the future of healthcare in Europe. The workshop brought together people from different fields to look at the challenges and benefits of sharing genetic test results that could affect family members. Five main ideas came out of the discussions: (1) treating family communication as an ongoing conversation, (2) focusing on the family as a whole rather than just the individual, (3) making roles and responsibilities in the communication process clearer, (4) addressing the lack of clear rules and policies, and (5) ensuring there are enough resources to support these efforts. To improve how genetic risk information is shared with families, the participants stressed the importance of better counseling before genetic tests, clearer follow-up steps, clearer policies, and training for healthcare workers both within and outside genetic services.

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Conflict of interest statement

No competing interests were disclosed.

Cited by

Addressing family communication in genetic counseling: A scoping review of process studies.
Barbosa M, Paneque M, Fontoura Dias S, Júlio F, Sequeiros J, Sousa L, Clarke A, Metcalfe A, Sales CMD, Mendes Á. Barbosa M, et al. J Genet Couns. 2025 Aug;34(4):e70067. doi: 10.1002/jgc4.70067. J Genet Couns. 2025. PMID: 40801425 Free PMC article. Review.

References

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[1] Lucassen A: Should families own genetic information? Yes. BMJ. 2007;335(7609):22. 10.1136/bmj.39252.386030.AD - DOI - PMC - PubMed

[2] Lucassen A: Should families own genetic information? Yes. BMJ. 2007;335(7609):22. 10.1136/bmj.39252.386030.AD - DOI - PMC - PubMed

[3] Gaff CL, Clarke AJ, Atkinson P, et al. : Process and outcome in communication of genetic information within families: a systematic review. Eur J Hum Genet. 2007;15(10):999–1011. 10.1038/sj.ejhg.5201883 - DOI - PubMed

[4] Gaff CL, Clarke AJ, Atkinson P, et al. : Process and outcome in communication of genetic information within families: a systematic review. Eur J Hum Genet. 2007;15(10):999–1011. 10.1038/sj.ejhg.5201883 - DOI - PubMed

[5] Derbez B: Is there a "right time" for bad news? Kairos in familial communication on hereditary breast and ovarian cancer risk. Soc Sci Med. 2018;202:13–19. 10.1016/j.socscimed.2018.02.022 - DOI - PubMed

[6] Derbez B: Is there a "right time" for bad news? Kairos in familial communication on hereditary breast and ovarian cancer risk. Soc Sci Med. 2018;202:13–19. 10.1016/j.socscimed.2018.02.022 - DOI - PubMed

[7] Black L, McClellan KA, Avard D, et al. : Intrafamilial disclosure of risk for hereditary breast and ovarian cancer: points to consider. J Community Genet. 2013;4(2):203–14. 10.1007/s12687-012-0132-y - DOI - PMC - PubMed

[8] Black L, McClellan KA, Avard D, et al. : Intrafamilial disclosure of risk for hereditary breast and ovarian cancer: points to consider. J Community Genet. 2013;4(2):203–14. 10.1007/s12687-012-0132-y - DOI - PMC - PubMed

[9] Clarke A, Richards M, Kerzin-Storrar L, et al. : Genetic professionals' reports of nondisclosure of genetic risk information within families. Eur J Hum Genet. 2005;13(5):556–62. 10.1038/sj.ejhg.5201394 - DOI - PubMed

[10] Clarke A, Richards M, Kerzin-Storrar L, et al. : Genetic professionals' reports of nondisclosure of genetic risk information within families. Eur J Hum Genet. 2005;13(5):556–62. 10.1038/sj.ejhg.5201394 - DOI - PubMed

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Genomic findings with familial implications: agenda setting in light of mainstreaming

Affiliations

Genomic findings with familial implications: agenda setting in light of mainstreaming

Authors

Affiliations

Abstract

Plain language summary

Conflict of interest statement

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Cited by

References

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