CANCER: The Government's main advisory body on cancer is considering proposals for the establishment of a national laboratory molecular genetic service which would provide testing for people who may be predisposed to developing hereditary forms of the disease. Martin Wall reports.
Between 5 and 10 per cent of common cancers such as breast, ovarian and bowel are believed to be hereditary and are linked to mutations in specific genes such as BRCA 1 and BRCA 2.
The National Cancer Forum, which is at the moment preparing a new national strategy, is currently considering proposals put forward by doctors at the National Centre for Medical Genetics at Our Lady's Hospital in Crumlin for the development of such a laboratory testing service.
Under the proposals put forward by Prof Andrew Green and Dr David Barton of the National Centre for Medical Genetics, patients with cancers which are believed to be hereditary - based on their age or family history - would be offered genetic testing.
If the results were positive, relatives of the patient would also be tested for the presence of the gene mutations which could indicate a risk that they could develop the condition.
As a result of funding provided on a pilot basis by the Health Research Board, the National Centre for Medical Genetics at Crumlin has developed technology and expertise for screening for mutations in the BRCA1 and BRCA2 genes as well as for assessing and counselling families with hereditary breast cancers.
Samples from 345 women affected with likely hereditary breast or ovarian cancer have been tested for mutations in the BRCA1 and BRCA2 gene.
The centre at Crumlin has also carried out 70 predictive tests for women considered at risk of carrying known BRCA mutations.
However, due to resource constraints there is a one-year waiting time for the cancer genetics clinic at Crumlin and a backlog of over 200 samples awaiting analysis, principally for breast cancer in women considered on clinical grounds to have a probable hereditary breast cancer.
Last year the Eastern Regional Health Authority allocated €600,000 in ongoing funding for cancer genetic services at the National Centre for Medical Genetics. However, as a result of the recruitment cap in the public service, the centre has not been able to appoint the additional staff needed to develop the services.
In a submission to the National Cancer Forum, Prof Green and Dr Barton said "laboratory molecular genetic services for the complex detection and predictive testing of germline hereditary cancer gene mutations should be provided at a single centre in the Republic of Ireland".
In the submission, the doctors at Crumlin said the investment in capital and scientific expertise needed for such testing would be large.
The submission argues that clinical services for managing those concerned over hereditary cancer risk should be provided on a three tier basis.
Those at low risk can be managed by their GP, according to the submission.
Those at moderate risk could be seen in their regional cancer care centre.
While those at high risk - only a small proportion of those concerned over their family history - should be seen in a specialist family cancer clinic, staffed by cancer genetic counsellors and under the direction of a consultant clinical cancer geneticist, the submission says.