Editorials

The future of breast and ovarian cancer clinics

In a general practitioner's list of 2000 people 40 to 50 will have a first degree relative with cancer, 10 of which relatives will have developed cancer under the age of 50 years. A few of these people will have a strong inherited predisposition to some common cancers, such as breast and ovarian cancer.¹ Mutations in the recently identified BRCA1 gene are associated with extremely high lifetime risks of cancer of the breast (87%) and ovaries (44%).² These mutations account for an estimated 10-30% of all women diagnosed with breast cancer under the age of 45,^{3 4} an important group as they contribute a large proportion of the years of life lost to breast cancer

Individuals should have access to accurate information about their risk, and those at high risk want access to effective screening.⁵ But our ability to identify women at high risk has come at a time when no consensus exists over the most appropriate management of these women. Mammographic screening for breast cancer is of uncertain effectiveness in young women^{6 7}; and it remains uncertain which screening strategy is most appropriate for ovarian cancer.⁸ At national and district level, NHS commissioners have been justifiably reluctant to allocate substantial resources to untested and unproved screening programmes.⁹

The need for information and counselling for women at risk has been met largely by ad hoc cancer genetics clinics funded by research agencies. Several clinics were established in regional centres in the early 1990s.¹⁰ They have dealt with an increasing number of women with a family history of cancer, mainly referred by general practitioners. In 1994 more than 1000 new referrals were made to familial breast cancer clinics in Scotland. However, as the clinics are funded independently, limited progress has been made in standardising policies or practices and in coordinating research at a national level. The future of these clinics remains uncertain, posing an important problem as many women have been told of their increased risk of cancer and enrolled in screening programmes that may be terminated through lack of funding.

The future for these clinics could be secured if the clinical and research needs were clarified. NHS commissioners need to recognise that cancer genetics is no longer of interest only to researchers. Women who are at very high risk of breast or ovarian cancer (or those who are extremely anxious about their perceived risk) need accurate risk estimation and counselling services. Where cancer genetics services do not exist, experience suggests that these women will attend services for women with symptomatic breast disease, which may not have expertise in the rapidly changing field of cancer genetics. For the small minority of women who are truly at high risk the NHS could also provide gene testing when it becomes available. Commissioners should ensure that the client group is clearly defined, that national guidelines on risk assessment and screening criteria are developed and agreed, and that storage and handling of data are satisfactory. They should then provide a core service for these people with recognised needs.

One possible model for an NHS regional cancer genetics service would entail the appointment of two specialist genetics nurses with training in oncology. The nurses would be supervised by a physician specialising in cancer genetics, with appropriate input from surgical specialists for clinical examinations and close links with oncology colleagues. The genetics nurse specialists would also carry out home visits, help primary care staff to provide counselling and follow up services in the community, and help to develop clinical guidelines for general practitioners, including when to refer women to regional cancer genetics services.

Of several possible models, none has so far been adequately evaluated. At the moment no formal training programmes in cancer genetics exist,¹¹ although several centres have the expertise to run such programmes and, in collaboration with the royal colleges, to set up subspecialty training in cancer genetics. While the role of screening in young women at high risk remains unresolved,¹² it may be prudent for the cancer genetics centres not to provide screening unless they are collaborating in a multicentre trial to evaluate the effectiveness of the screening programme.

Building on the basic infrastructure of these established centres, collaborative research could then tackle the many outstanding research questions. What, for example, is the possible role of testing for a specific gene? How effective are screening programmes or intervention strategies in women at high risk? Meaningful progress will only be made by multicentre collaboration. Research funding should support centres that agree to follow nationally agreed guidelines and collaborate in common research protocols to address these questions. An important opportunity will have been lost if the current system of autonomous centres with short term funding is allowed to continue.

Senior lecturer Department of Public Health Sciences, Edinburgh University, Edinburgh

Senior registrar ICRF Department of Medical Oncology, Western General Hospitals NHS Trust, Edinburgh

Consultant Department of Clinical Genetics, Western General Hospitals NHS Trust, Edinburgh

Harry Campbell, James Mackay, Mary Porteous 

1. Department of Health. Advances in the genetics of common diseases: implications for the NHS. DoH: London, 1995. (Report of workshop, May 1995.)
2. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE, Breast Cancer Linkage Consortium. Risks of cancer in BRCA1 mutation carriers. Lancet 1994;343:692-5. [Medline]
3. Easton D, Ford D, Peto J. Inherited susceptibility to breast cancer. Cancer Surveys. 1993;18:95-113.
4. Weber BL. Susceptibility genes for breast cancer. New Engl J Med 1994;331:1523-4. [Free Full Text]
5. Biesecker B, Boenhke M, Calzone K, Markel DS, Garber JE, Collins FS, et al. Genetic counselling for families with inherited susceptibility to breast and ovarian cancer. JAMA 1993;269:1970-4. [Abstract]
6. Forrest AP, Alexander FE. A question that will not go away; at what age should mammographic screening begin? J Natl Cancer Inst 1995:87:1195-7.
7. Evans DER, Fentiman IS, McPherson K, Ashbury D, Ponder BAJ, Howell A. Familial breast cancer. BMJ 1994;308:183-7. [Abstract/Free Full Text]
8. Philip J. Is screening for ovarian cancer worthwhile? Journal of Medical Screening 1994:1;206-7.
9. Advisory Council on Science and Technology. A report on medical research and health. London: HMSO, 1993:21.
10. Ponder BAJ. Setting up and running a familial cancer clinic. Br Med Bull 1994;50:732-45. [Abstract/Free Full Text]
11. Mackay J, Crosbie AEC, Steel CM, Smart GE, Smyth JF. Clinical and ethical dilemmas in familial ovarian cancer. In: Sharp F, Blackett A, Leake R, Berek J, eds. Ovarian cancer 4. London: Chapman and Hall, 1995.
12. Hoskins KF, Stopfer JE, Calzone KA, Merajver SD, Rebbeck R, Garber JE, Weber BL. Assessment and counselling for women with a family history of breast cancer: a guide for clinicians. JAMA 1995;273:577-85. [Abstract]