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] favour the central role of the oncologist. Yet in many countries, including Italy, cancer genetic counselling is performed by trained clinical geneticists [2
, 3
]. 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].
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] 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.
1 University of Genoa, Service of Medical Genetics, Genoa; 2 Hospital of Cremona, Department of Medical Genetics, Cremona; 3 University of Torino, Department of Genetics, Biology and Biochemistry, Turin, Italy
* Email: pmandich{at}unige.it
References
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: 726732.
2. Van Asperen CJ, Tollenaar RAEM, Krol-Warmedam EMM et al. Possible consequences of applying guidelines to healthy women with a family history of breast cancer. Eur J Hum Genet 2003; 11: 633636.[CrossRef][ISI][Medline]
3. Euhus DM, Smith KC, 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: 844851.
4. Harper PS. Practical Genetic Counselling, 2nd edition. Bristol: John Wright and Sons 1984.
5. DudokdeWit AC, Tibben A, Duivenvoorden HJ et al. Distress in individuals facing predictive DNA testing for autosomal dominant late-onset disorders. Am J Med Genet 1998; 75: 6274.[CrossRef][ISI][Medline]