Comment on ‘Cancer genetic counselling’ by P. Mandich et al. (Ann Oncol 2005; 16: 171)

With the advent of genetic tests, genetic counselling is attracting increasing attention, as also shown by the recent letter by Mandich et al. [1Go], which addressed some aspects of our oncologist-based multistep model of cancer genetic counselling [2Go]. Perhaps the features of our model can be appreciated if we explain the rationale that prompted it. The philosophy and practice of the model emerged from a clinical oncological setting [2Go]. It was specifically designed to meet the user's needs of physical, mental and social well-being as recommended by the WHO [3Go], and is in keeping with the Italian National Health Plan in force when the model was designed, in that it empowers users to make an informed, fully aware choice among the various preventive, diagnostic and therapeutic options available [4Go]. The model, which employs an interdisciplinary team, identifies and manages at-risk subjects, and promotes the early diagnosis of invasive and preinvasive hereditary and familial tumours.

Pedigree construction and genetic testing (T1) occur only when the user is fully empowered to decide whether he/she wishes to know their cancer risk. Decisional empowerment derives from extensive information-giving about all aspects of familial or hereditary cancer (T0). At this step, the counsellor also obtains all the information necessary, including clinical-pathological files, to construct the pedigree and to estimate risk, thereby avoiding piecemeal data collection that would delay risk estimation. Communication modalities are geared to the user's educational/cultural level and their motivations and expectations in requesting counselling. The oncologist defines the user's risk profile (hereditary, familial or personal) and informs them of the possibility, limits and implications, also for their family, of risk estimation, and of prevention options so that the user can decide whether to proceed or not with counselling. At crucial steps of counselling, the psycho-oncologist evaluates also the user's coping style, which is an indicator of psychological well being [5Go]. A grave cognitive deficit and a severe psychopathologic condition preclude continuation of counselling because fully aware consent (i.e. ‘empowerment’) and not just informed consent is required to proceed from step to step of the model. The counsellor verifies acquisition of information by questioning the user. The counsellor–user relationship is considered a partnership in which a dynamic feedback of information from and to the user is established. Gene testing is not appropriate for everyone [6Go]. Not all users have a genetic risk.

Given the high psychological impact of cancer, global counselling is particularly important and requires the specific professional figures in the field of hereditary and familial cancer. It is conceivable that, given their training and daily exposure to patients, oncologists are able to estimate personal risk, to propose diagnostic/therapeutic strategies and to explain these to the user considering their healthy or disease status.

The multistep counselling model, endorsed by the Italian National Health Service for application in patient care, is being used in some centers of the Network for Hereditary Breast and Ovarian Cancer. Information provided by the media or on educational websites, even when ‘officially’ sanctioned, needs to be ‘interpreted’ by the health professional according to each user's needs.

In conclusion, our multistep model is not intended to replace classical genetic counselling, but rather to provide an alternative that fosters the oncologist–user partnership in order to promote early diagnosis and prevention.

A. Contegiacomo1,*, M. Pensabene1, I. Capuano1, L. Tauchmanova1, M. Federico2, D. Turchetti2, L. Cortesi2, P. Marchetti4, E. Ricevuto4, G. Cianci4, V. Barbieri3, S. Venuta3 and V. Silingardi2

1 Department of Molecular and Clinical Endocrinology and Oncology, University of Naples ‘Federico II’, Naples; 2 Department of Oncology and Hematology, University of Modena and Reggio Emilia, Modena; 3 Department of Clinical and Experimental Medicine ‘G. Salvatore’, University of Catanzaro ‘Magna Graecia’, Catanzaro; 4 Department of Experimental Medicine, University of L'Aquila, L'Aquila, Italy

(*Email: impact.jgilder{at}tin.it, Email: contalma{at}unina.it)

References

1. Mandich P, Cavalli P, Pasini B. Cancer genetic counselling. Ann Oncol 16; 1: 171.

2. 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: 726–732.[Abstract/Free Full Text]

3. WHOQOL Group. The development of life assessment instrument (the WHOQOL). In Orley J, Kuyken W (eds): Quality of Life Assessment: International Perspective. Heidelberg: Springer Verlag 1994; 41–57.

4. National Health Plan (NHP) 1998–2000. Available online at http://www.fdgdiabete.it/psn2000/psnindex.htm (24 January 2005, date last accessed).

5. Nordin K, Lidén A, Hansson M et al. Coping style, psychological distress, risk perception, and satisfaction in subjects attending genetic counselling for hereditary cancer. J Med Genet 2002; 39: 689–694.[Free Full Text]

6. 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: 844–851.[Abstract/Free Full Text]





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