Addressing family communication in genetic counseling: A scoping review of process studies

doi:10.1002/jgc4.70067

Review

. 2025 Aug;34(4):e70067.

doi: 10.1002/jgc4.70067.

Addressing family communication in genetic counseling: A scoping review of process studies

Maria Barbosa^{1

2

3

4}, Milena Paneque^{1

2

5}, Sofia Fontoura Dias^{6

7}, Filipa Júlio^{8

9

10

11}, Jorge Sequeiros^{1

2

5}, Liliana Sousa^{6

7}, Angus Clarke¹², Alison Metcalfe¹³, Célia M D Sales^{3

4}, Álvaro Mendes^{1

2

14}

Affiliations

¹ i3S - Instituto de Investigação e Inovação Em Saúde, University of Porto, Porto, Portugal.
² CGPP - The Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal.
³ FPCEUP - Faculty of Psychology and Educational Sciences, University of Porto, Porto, Portugal.
⁴ CPUP - Center for Psychology, University of Porto, Porto, Portugal.
⁵ ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal.
⁶ Department of Education and Psychology, University of Aveiro, Aveiro, Portugal.
⁷ RISE-Health, Health Research and Innovation, University of Aveiro, Aveiro, Portugal.
⁸ European Huntington Association, Moerbeke-Waas, Belgium.
⁹ Portuguese Huntington Association, Lisbon, Portugal.
¹⁰ Faculty of Psychology and Educational Sciences, University of Coimbra, Coimbra, Portugal.
¹¹ CIBIT - Coimbra Institute for Biomedical Imaging and Translational Research, University of Coimbra, Coimbra, Portugal.
¹² Cardiff University School of Medicine, The Sir Geraint Evans Building, University Hospital of Wales, Cardiff, UK.
¹³ LOHA Health Ltd, London, UK.
¹⁴ Department of Diagnostics and Intervention, Oncology, Umeå University, Umeå, Sweden.

PMID: 40801425
PMCID: PMC12345395
DOI: 10.1002/jgc4.70067

Review

Addressing family communication in genetic counseling: A scoping review of process studies

Maria Barbosa et al. J Genet Couns. 2025 Aug.

. 2025 Aug;34(4):e70067.

doi: 10.1002/jgc4.70067.

Authors

Affiliations

¹ i3S - Instituto de Investigação e Inovação Em Saúde, University of Porto, Porto, Portugal.
² CGPP - The Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal.
³ FPCEUP - Faculty of Psychology and Educational Sciences, University of Porto, Porto, Portugal.
⁴ CPUP - Center for Psychology, University of Porto, Porto, Portugal.
⁵ ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal.
⁶ Department of Education and Psychology, University of Aveiro, Aveiro, Portugal.
⁷ RISE-Health, Health Research and Innovation, University of Aveiro, Aveiro, Portugal.
⁸ European Huntington Association, Moerbeke-Waas, Belgium.
⁹ Portuguese Huntington Association, Lisbon, Portugal.
¹⁰ Faculty of Psychology and Educational Sciences, University of Coimbra, Coimbra, Portugal.
¹¹ CIBIT - Coimbra Institute for Biomedical Imaging and Translational Research, University of Coimbra, Coimbra, Portugal.
¹² Cardiff University School of Medicine, The Sir Geraint Evans Building, University Hospital of Wales, Cardiff, UK.
¹³ LOHA Health Ltd, London, UK.
¹⁴ Department of Diagnostics and Intervention, Oncology, Umeå University, Umeå, Sweden.

PMID: 40801425
PMCID: PMC12345395
DOI: 10.1002/jgc4.70067

Abstract

Process studies explore the content and dynamics established during genetic counseling (GC), allowing a greater understanding of what happens. No literature review has specifically examined how family communication of genetic information has been addressed in GC process studies. To fill this gap, a scoping review was conducted. Scopus, Web of Science, PubMed, and PsycInfo were searched, resulting in 21 articles for analysis. Most studies were retrospective (n = 19) and qualitative (n = 15) and involved hereditary cancer syndromes (n = 13). Studies analyzed how family communication of genetic information is addressed in GC by either focusing on patients' experiences and perspectives, or genetic healthcare professionals' (GHP) roles and scope of practice. All studies reported that GHP address family communication with patients, but their practices were heterogeneous and influenced by contextual factors. Practices to address family communication included providing guidance to inform the family (n = 19), materials to support communication (n = 16), psychosocial assessment (n = 11), and additional support (n = 18). Our findings suggest that the approach to family communication in GC draws on both teaching and counseling models, although with greater emphasis on the former. This is consistent with integrated models of GC. Future prospective process studies using observational data could enhance our understanding of patient-professional interactions and their influence on patient decision-making regarding family communication of genetic information.

Keywords: family disclosure; genetic counseling; genetic risk; literature review; psychosocial genetics.

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Conflict of interest statement

All the authors declare that they have no conflict of interest.

Figures

**FIGURE 1**
PRISMA flowchart outlining the database and citation searching process.

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References

1. Aasen, T. , & Skolbekken, J.‐A. (2014). Preparing for and communicating uncertainty in cancer genetic counselling sessions in Norway: An interpretative phenomenological analysis. Health, Risk and Society, 16(4), 370–389. 10.1080/13698575.2014.927838 - DOI
1. Afaya, A. , Kim, S. W. , Park, H. S. , Lim, M. C. , Jung, M. S. , Nam, E. J. , Park, J. S. , Jeong, J. , Ryu, J. M. , Kim, J. S. , Kim, J. , Kim, M. , Jin, J. , Han, J. , Kim, S. Y. , Park, S. Y. , Katapodi, M. C. , Kim, S. , & the K‐CASCADE consortium . (2024). Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: A scoping review. Familial Cancer, 23(2), 121–132. 10.1007/s10689-024-00379-y - DOI - PubMed
1. Ahsan, M. D. , Levi, S. R. , Webster, E. M. , Bergeron, H. , Lin, J. , Narayan, P. , Nelson, B. B. , Li, X. , Fowlkes, R. K. , Brewer, J. T. , Thomas, C. , Christos, P. J. , Chapman‐Davis, E. , Cantillo, E. , Holcomb, K. , Sharaf, R. N. , & Frey, M. K. (2023). Do people with hereditary cancer syndromes inform their at‐risk relatives? A systematic review and meta‐analysis. PEC Innovation, 2, 100138. 10.1016/j.pecinn.2023.100138 - DOI - PMC - PubMed
1. Aromataris, E. , Lockwood, C. , Porritt, K. , Pilla, B. , & Jordan, Z. (2024). JBI Manual for Evidence Synthesis. JBI. 10.46658/JBIMES-24-01 - DOI
1. Austin, J. , Semaka, A. , & Hadjipavlou, G. (2014). Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine. Journal of Genetic Counseling, 23(6), 903–909. 10.1007/s10897-014-9728-1 - DOI - PMC - PubMed

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[1] Aasen, T. , & Skolbekken, J.‐A. (2014). Preparing for and communicating uncertainty in cancer genetic counselling sessions in Norway: An interpretative phenomenological analysis. Health, Risk and Society, 16(4), 370–389. 10.1080/13698575.2014.927838 - DOI

[2] Aasen, T. , & Skolbekken, J.‐A. (2014). Preparing for and communicating uncertainty in cancer genetic counselling sessions in Norway: An interpretative phenomenological analysis. Health, Risk and Society, 16(4), 370–389. 10.1080/13698575.2014.927838 - DOI

[3] Afaya, A. , Kim, S. W. , Park, H. S. , Lim, M. C. , Jung, M. S. , Nam, E. J. , Park, J. S. , Jeong, J. , Ryu, J. M. , Kim, J. S. , Kim, J. , Kim, M. , Jin, J. , Han, J. , Kim, S. Y. , Park, S. Y. , Katapodi, M. C. , Kim, S. , & the K‐CASCADE consortium . (2024). Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: A scoping review. Familial Cancer, 23(2), 121–132. 10.1007/s10689-024-00379-y - DOI - PubMed

[4] Afaya, A. , Kim, S. W. , Park, H. S. , Lim, M. C. , Jung, M. S. , Nam, E. J. , Park, J. S. , Jeong, J. , Ryu, J. M. , Kim, J. S. , Kim, J. , Kim, M. , Jin, J. , Han, J. , Kim, S. Y. , Park, S. Y. , Katapodi, M. C. , Kim, S. , & the K‐CASCADE consortium . (2024). Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: A scoping review. Familial Cancer, 23(2), 121–132. 10.1007/s10689-024-00379-y - DOI - PubMed

[5] Ahsan, M. D. , Levi, S. R. , Webster, E. M. , Bergeron, H. , Lin, J. , Narayan, P. , Nelson, B. B. , Li, X. , Fowlkes, R. K. , Brewer, J. T. , Thomas, C. , Christos, P. J. , Chapman‐Davis, E. , Cantillo, E. , Holcomb, K. , Sharaf, R. N. , & Frey, M. K. (2023). Do people with hereditary cancer syndromes inform their at‐risk relatives? A systematic review and meta‐analysis. PEC Innovation, 2, 100138. 10.1016/j.pecinn.2023.100138 - DOI - PMC - PubMed

[6] Ahsan, M. D. , Levi, S. R. , Webster, E. M. , Bergeron, H. , Lin, J. , Narayan, P. , Nelson, B. B. , Li, X. , Fowlkes, R. K. , Brewer, J. T. , Thomas, C. , Christos, P. J. , Chapman‐Davis, E. , Cantillo, E. , Holcomb, K. , Sharaf, R. N. , & Frey, M. K. (2023). Do people with hereditary cancer syndromes inform their at‐risk relatives? A systematic review and meta‐analysis. PEC Innovation, 2, 100138. 10.1016/j.pecinn.2023.100138 - DOI - PMC - PubMed

[7] Aromataris, E. , Lockwood, C. , Porritt, K. , Pilla, B. , & Jordan, Z. (2024). JBI Manual for Evidence Synthesis. JBI. 10.46658/JBIMES-24-01 - DOI

[8] Aromataris, E. , Lockwood, C. , Porritt, K. , Pilla, B. , & Jordan, Z. (2024). JBI Manual for Evidence Synthesis. JBI. 10.46658/JBIMES-24-01 - DOI

[9] Austin, J. , Semaka, A. , & Hadjipavlou, G. (2014). Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine. Journal of Genetic Counseling, 23(6), 903–909. 10.1007/s10897-014-9728-1 - DOI - PMC - PubMed

[10] Austin, J. , Semaka, A. , & Hadjipavlou, G. (2014). Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine. Journal of Genetic Counseling, 23(6), 903–909. 10.1007/s10897-014-9728-1 - DOI - PMC - PubMed

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Addressing family communication in genetic counseling: A scoping review of process studies

Affiliations

Addressing family communication in genetic counseling: A scoping review of process studies

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