Cancer genetic counselling
Authors: P. Mandich, P. Cavalli, B. Pasini
Journal: Annals of Oncology (2004)

Counselling in cancer genetics may differ from genetic counselling in cancer. Cancer risk counsellors must provide patient education, risk assessment, pre- and post-test counselling, and intervention planning. In this complex multistep process, Contegiacomo et al. [1.Contegiacomo A. Pensabene M. Capuano L. et al.An oncologist-based model of cancer genetic counselling for hereditary breast and ovarian cancer.Ann Oncol. 2004; 15: 726-732Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar] favour the central role of the oncologist. Yet in many countries, including Italy, cancer genetic counselling is performed by trained clinical geneticists [2.Van Asperen C.J. Tollenaar R.A.E.M. Krol-Warmedam E.M.M. et al.Possible consequences of applying guidelines to healthy women with a family history of breast cancer.Eur J Hum Genet. 2003; 11: 633-636Crossref PubMed Scopus (9) Google Scholar, 3.Euhus D.M. Smith K.C. Robinson L. et al.Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO..J Natl Cancer Inst. 2002; 94: 844-851Crossref PubMed Scopus (132) Google Scholar]. It is our opinion that no matter who is the cancer genetic counsellor, some points must be addressed clearly. In the proposed multistep model, pedigree construction is performed only as a second step (T1), after an extensive information/education session (T0). We believe that the inclusion in a genetic risk assessment model should be performed only after collection of an accurate personal and familial history, rather than as a second step, after extensive information and education to the patient, because ‘collecting genetic information is the first and most important step in genetic counselling’ [4.Harper P.S. Practical Genetic Counselling.2nd edition. John Wright and Sons, Bristol1984Google Scholar]. Why should we extensively inform consultants about hereditary, familial and sporadic forms of cancer, available methods for risk assessment, implication of cancer risk, strategies for risk management, surveillance and prevention before knowing whether they have a cancer risk other than the normal population? General information about common risk factors for cancer development is provided through easy-to-read papers, pamphlets, educational websites and so on through Regional Health Services, while pedigree drawing is the way to collect relevant clinical history in a specific condition, and is the essential step with which to begin any genetic counselling. Cancer genetic counselling is now offered not only in a research project framework, but also as a medical practice in several clinical settings where other inherited late-onset conditions, with similar or more critical psychological impact, are followed. Finally, the statement that ‘a low cognitive level and psychological distress preclude continuation of counselling’ cannot be accepted in a genetic counselling setting. In our opinion, the patient's psychological distress should not preclude the practice of genetic counselling. The impact of psychological distress in counselling was analysed by psychologists involved in presymptomatic testing of late-onset disorders and is regarded as a part of the process of decision-making. DudokdeWit et al. [5.DudokdeWit A.C. Tibben A. Duivenvoorden H.J. et al.Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders.Am J Med Genet. 1998; 75: 62-74Crossref PubMed Scopus (66) Google Scholar] showed that risk carriers of late-onset diseases with higher stress scores may be actively dealing with the emotional implications of the test, whereas those with low stress scores may be unable to face these implications. Therefore, it seems important to identify the patient's strategy of coping with the potential threat, in order to provide suitable counselling and necessary guidance.