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Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece

Familial Cancer volume 21, pages 479–487 (2022)Cite this article

Abstract

Genetic testing has been implemented in clinical practice. However, data on physician’s practices and education related to cancer genetics, risk assessment and clinical management in Greece, is limited. In Greece, genetic counseling is performed by treating physicians in collaboration with clinical laboratory geneticists due to the absence of medical geneticists and genetic counsellors. We evaluated treating physicians’ experience on genetic testing for hereditary cancer and counseling practices in Greece, thus providing critical areas for improvement of genetic counseling processes. A 28-question survey was used to assess physicians’ experience with genetic testing practices, factors that affect their clinical management and decision making and limitations in their education. Of 250 physicians, 208 (83%) completed the survey; of whom 89 (42.8%) were medical oncologists, 88 general surgeons (42.3%), 26 gynecologists (12.5%) and 5 (2.4%) of other specialties. Overall, 91.8% of participants referred patients for genetic testing, with 51.8% recommending multigene panel testing. While most clinicians (84%) reported lack of a clinical genetics department at their institution, 75.7% referred patients for genetic counseling at available departments or healthcare professionals with expertise in genetic counseling. Overall, 68.8% of respondents reported no training or moderate training on cancer genetics. A higher proportion of medical oncologists reported sufficient/very satisfactory training (40.9%) compared to general surgeons (27.3%) or gynecologists (11.5%) (p = 0.012). Time spent on pre- and post-testing sessions varied significantly among respondents. Of 199 physicians, 70% would manage patients with BRCA1 VUS as patients with pathogenic variants, mainly surgeons (83.1%) and gynecologists (80%), compared to oncologists (52.3%) (p < 0.001). Additionally, 64% of physicians treating patients with breast and ovarian cancer would recommend an intervention based on the presence of a BRCA1 VUS. Most respondents (87%) were interested in receiving additional education on cancer risk assessment. Limited consensus was observed during physicians’ genetic testing, counseling practices and clinical management of patients with increased predisposition to cancer. Our findings highlight the need for improvement in physician education on cancer risk assessment and increase of genetic counseling resources and services.

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Data availability

The data that support the findings of this study are available on reasonable request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.

Materials availability

The data that support the findings of this study are available on reasonable request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.

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Acknowledgements

We thank all the respondents for completing the survey.

Funding

No funding was received for conducting this study.

Author information

Author notes

  1. Elena Fountzilas and Paraskevi Apostolou are considered joint first author.

Authors and Affiliations

  1. Second Department of Medical Oncology, Euromedica General Clinic of Thessaloniki, Gravias 5, 54645, Thessaloniki, Greece

    Elena Fountzilas

  2. European University Cyprus, Engomi, Cyprus

    Elena Fountzilas

  3. Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research “Demokritos”, Athens, Greece

    Paraskevi Apostolou & Florentia Fostira

  4. School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Angelo V. Vasiliadis

  5. First Department of Obstetrics and Gynecology, School of Health Sciences, Papageorgiou Hospital, Faculty of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Dimitra Aivazi

  6. Department of Oncology, University General Hospital of Larissa, School of Health Sciences, University of Thessaly, Larissa, Greece

    Emmanouil Saloustros

Authors
  1. Elena Fountzilas
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  2. Paraskevi Apostolou
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  3. Angelo V. Vasiliadis
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  4. Dimitra Aivazi
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  5. Emmanouil Saloustros
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  6. Florentia Fostira
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Contributions

EF contributed to the study design, collection, analysis and interpretation of the data and writing of original draft. PAcontributed to the analysis and interpretation of the data and writing of original draft. AVV contributed to collection of the data. DA contributed to data analysis. ES contributed to analysis and interpretation of data. FF contributed to supervision and conceptualization of the study. All authors revised the manuscript critically for important intellectual content and reviewed the final version of it and approved submission.

Corresponding author

Correspondence to Elena Fountzilas.

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Conflict of interest

EF: advisory role: LEO pharma. Speaker fees: Roche, Pfizer, AstraZeneca. Stock ownership: GENPREX INC, Deciphera Pharmaceuticals, Inc. Travel grant: Merck, Pfizer, and K.A.M Oncolo-gy/Hematology and DEMO. The rest of the authors declare they have no conflict of interest and have no substantial or indirect commercial finance incentive associated with publishing this article.

Ethical approval

The questionnaire and methodology for this study was approved by the bioethics committee of Euromedica General Clinic (CLI00489/16.3.2021).

Research involving animal participants

No non-human animal studies were carried out by the authors for this article.

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Fountzilas, E., Apostolou, P., Vasiliadis, A.V. et al. Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece. Familial Cancer 21, 479–487 (2022). https://doi.org/10.1007/s10689-022-00290-4

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  • DOI: https://doi.org/10.1007/s10689-022-00290-4

Keywords

  • Mainstreaming attitudes
  • Education
  • Genetic counseling
  • Genetic testing
  • Genetic services
  • Cancer genetics