I am delighted the Minister is here because he has a very good understanding of genetics and I know I will receive a very sympathetic response from him. Although most cancer is not hereditary, some families with a history of certain malignancies define a group of healthy people which is at very high risk of suffering from cancer. Pre-symptomatic genetic testing offers clear benefits to members of these families. Ireland does not have a structured service provision for planning for families in this position. The services which have voluntarily taken on this additional task are already under pressure from the high level of patient demand. Pilot research studies into the feasibility of providing a hereditary breast cancer service are nearing an end, with no subsequent plan to continue what has been shown to be an effective and valuable service.
The National Cancer Forum recently endorsed the need for a cancer genetics service for Ireland. The discovery of dominantly inherited genes predisposing to cancer has opened up new possibilities for diagnosis and new areas requiring defined genetic counselling protocols and skilled clinical practice. At-risk families can be offered the possibility of a highly specific genetic test. Individuals testing positive benefit from a concentration of effort to detect malignant changes and have the option of early or prophylactic treatment. Those testing negative can be given a low risk of developing cancer and can be reassured and removed from intensive physical surveillance, with benefits to themselves and their relatives and savings to the health budget.
The 1990 Report of the Committee to Examine Medical Genetics Services, chaired by Dr. Niall Tierney, made no provision for cancer genetic services as the scientific developments underlying these services have mostly taken place since the report was published. A subsequent report on genetic services in Ireland in 1998 by Professor Peter Harper mentioned that the National Centre for Medical Genetics would have a role in the provision of services in adult genetics, including hereditary cancer, but made no formal recommendations. The 1996 national cancer strategy report, which refers to secondary cancer screening of those with cancer and the potential for screening families, did not make clear the role that should be undertaken.
I will not go through the various types of cancer of which we can have improved diagnosis, but many of them are quite common here, particularly colorectal cancer, kidney and brain, pituitary and pancreas, skin and brain, melanomas and breast and ovary cancers. As the Minister of State is aware, we have done a considerable amount of work in these areas. It is of great relevance to clinical practice at all levels to recognise the sub-set of about 10% of individuals with common cancers – breast, ovarian and bowel – with a family history of the disease. Again, the genetic predisposition in these families is inherited as an autosomal dominant trait. Mapping and sequencing of the major predisposition genes for common familial cancer leads to a deeper understanding of pathological mechanisms but, more immediately, it opens up possibilities for diagnosis.
The recognition of predisposition genes, especially for common cancer, has received intensive publicity and awareness of the existence of familial cancer is at a high level among clinicians, other health professionals, the public and lay organisations. This has already led to a demand for genetic evaluation of family histories that requires skills and expertise not widely available. Current services are not configured to filter this demand and separate random family clusters of cancer from disease likely to be caused by inherited germ-line mutations. Similarly, the follow on services to deal with genetic diagnosis and counselling of individuals are unable to cope with the rising demand for services. Good practice dictates that clinicians cannot ignore these developments and must offer surveillance to at-risk individuals where a family history of disease clearly exists. That is the reason I ask that what has been described as pilot services now become practical services for the community.
For the past three years, the Health Research Board has funded a study on inherited forms of breast cancer in Ireland. The study, co-ordinated by the National Centre for Medical Genetics, also involves Professor Peter Daly at St. James's Hospital, Dr. Des Carney at the Mater Misericordiae Hospital and Professor Niall O'Higgins and Mr. Enda McDermott at St. Vincent's Hospital. The study has three complementary strands: an assessment of the actual risk in women who present with a concern over a family history of breast and/or ovarian cancer; a laboratory investigation of the mutations in the BRCA1 and BRCA2 genes that cause inherited breast cancer in Irish women; and a clinical study of the implementation of predictive testing for breast cancer risk in families where a mutation has been identified. The laboratory study has identified three mutations more commonly found in Irish women than elsewhere which will facilitate mutation testing in new families referred. The clinical study has identified a strong demand for genetic testing for inherited breast cancer. Similar progress has been made in the area of colon cancer in particular.
The Minister of State is well aware of these issues. I ask that we respect what the National Cancer Forum said and bring to fruition a service facility within the national genetics centre in Crumlin to facilitate the testing of these very high risk people.
