CANCER GENETIC COUNSELING. PART I - WESTERN EUROPEAN COUNTRIES

  • Aliona MORARIU “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Alina MANOLE “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Doina AZOICAI “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Abstract

CANCER GENETIC COUNSELING. PART I-WESTERN EUROPEAN COUNTRIES (Abstract): Genetic counseling services represent a relatively new concept aimed to identify patients or relatives with hereditary predisposition for cancer susceptibility and to act accordingly for early diagnosis, cure and prevention. It has become an accepted part of oncology care in many European countries. Unfortunately, despite the same state of knowledge, the patients from different European countries would experience different care. This situation is not in accordance with the European Union directives, which are enacted to implement and protect the idea of free movement of goods, services, people and capital. This study aimed to examining the current practice of genetic counseling for cancer in different European countries, with special accent on familial breast and ovarian cancer management as the most studied and managed hereditary cancer. We also sought to ascertain the needs for the unitary politics in cancer genetics services, to decrease the difference in cancer genetic counseling opportunity and facility. As a first step we compared the national guidelines regarding genetic counseling for familial/hereditary breast and ovarian cancer in some countries from Western Europe. All guidelines recommend embedding genetic testing within a framework of genetic counseling, and all agree to perform genetic testing first in an affected person. However, we found some differences regarding the thresholds, detailed description of selection criteria, the risk calculation methods, the age of diagnosis, the relationship with counselor and physician etc. There are also many open questions that are not covered by the guidelines, for instance: how to deal with phenocopies, unclassified variants, and newly identified breast cancer susceptibility genes or with family that not fitting the criteria, that need to be discussed. New evidence is usually slowly integrated into the guidelines. An exchange process towards the harmonization of the guidelines will ensure high quality health care across Europe.

Author Biographies

Aliona MORARIU, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Preventive Medicine and Interdisciplinarity

Alina MANOLE, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Preventive Medicine and Interdisciplinarity

Doina AZOICAI, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Preventive Medicine and Interdisciplinarity

References

1. Ferlay J, Ervik M, Lam F, Colombet M, Mery L, Piñeros M, Znaor A, Soerjomataram I, Bray F. Global Cancer Observatory: Cancer Today. Lyon, France: International Agency for Research on Cancer. 2018. Available from: https://gco.iarc.fr/today. Accessed 08.08.2018.
2. Coleman MP, Alexe DM, Albreht T, McKee M (editors). Responding to the challenge of cancer in Europe. Institute of Public Health of the Republic of Slovenia: Ljubljana, 2008.
3. Gadzicki D, Evans DG, Harris H, et al. Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. J Community Genet 2011; 2(2): 53-69.
4. ***Expert Advisory Group on Cancer. A policy framework for commissioning cancer services - the Calman - Hine Report. A Report by the Expert Advisory Group on Cancer to the Chief Medical Officers of England and Wales. London, UK: Department of Health; 1995.
5. Andrieu N, et al. Synthèse du rapport sur l'estimation des besoins de la population pour les 10 années à venir en termes d'accès aux consultations et aux tests d'oncogénétique l’Institut National du Cancer Études & expertises 2009. Available at www.e-cancer.fr. Accessed 06.08.2018.
***NICE (National Institute for Clinical Excellence). NICE guideline CG041: familial breast cancer. The classification and care of women at risk of familial breast cancer in primary, secondary and ter-tiary care. National Institute for Clinical Excellence, London, 2006. Available at http://www.nice.org.uk. Accessed 06.08.2018.
6. Schmutzler R, Schlegelberger B, Meindl A, Gerber W, Kiechle M. Counselling, genetic testing and prevention in women with hereditary breast-and ovarian cancer. Interdisciplinary recommendations of the consortium “hereditary breast and ovarian cancer” of the German Cancer AiD. Zentralbl Gynäkol 2003; 125: 494-506.
7. Bonaïti-Pellié C, et al. Cancer genetics: estimation of the needs of the population in France for the next 10 years. Bull Cancer 2009; 96: 875-900.
8. Antoniou AC, et al. Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK ge-netics clinics. Med Genet 2008; 45: 425-431.
9. Evans DG, et al. Addition of pathology and biomarker information significantly improves the per-formance of the Manchester scoring system for BRCA1 and BRCA2 testing. J Med Genet 2009; 46: 811-817.
10. Antoniou AC, Easton DF. Risk prediction models for familial breast cancer. Future Oncol 2006; 2: 257-274.
11. Amir E, Freedman OC, Seruga B, Evans DG Assessing women at high risk of breast cancer: a review of risk assessment models. J Natl Cancer Inst 2010; 102: 680-691.
12. Smith A, Moran A, Boyd MC, Bulman M, Shenton A, Smith L, Iddenden I, Woodward E, Lalloo F, Rahman N, Maher ER, Evans DGR. The trouble with phenocopies: are those testing negative for a family BRCA1/2 mutation really at population risk? J Med Genet 2007; 44: 10-15.
13. Julian-Reynier C, Chabal F, Frebourg T, Lemery D, Noguès C, Puech F, Stoppa-Lyonnet D. Profes-sionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer. J Clin Oncol 2009; 27: 4475-4480.
14. ***Gendiagnostikgesetz. German act on genetic diagnostics, 2009. Available at http://www.gesetze-im-internet.de/bundesrecht/gendg/gesamt.pdf.
15. Kreienberg R, et al. Interdisziplinare S3-leitlinie fur die diagnostik, Therapie und Nachsorge des Mammakarzinoms. Germering: W. Zuckschwerdt Verlag, 2008.
Published
2018-10-04