A sad reflection

THE announcement by Angelina Jolie that she had preventative mastectomies after genetic testing revealed she has a gene which gives her an 87% lifetime risk of developing breast cancer, has highlighted the significance of this situation for many Irish women.

The issue for women who may find themselves in the same position, is timely access to genetic services.

The National Centre for Medical Genetics (NCMG), based in Our Lady’s Children’s Hospital (OLCHC) in Crumlin provides a clinical and laboratory genetic service for those affected by, or at risk of, a genetic condition.

Although based in a children’s hospital, about half of the 6,000 people seen every year by the centre are adults. The funds to run the centre come from the HSE, as part of the general allocation to run OLCHC.

For over 10 years, the NCMG has provided a clinical and laboratory service for those at risk of breast cancer and other cancers, running clinics in Dublin, Cork and Galway. This service accounts for about 25% of the NCMG’s clinical activity.

Over that time, several thousand people have been seen, counselled and tested by specialist registered cancer genetic counsellors and consultants. However, because of the increasing demand on the service, the routine waiting times to be seen in the cancer genetics clinic, and other genetic clinics, is an unacceptable 12 months.

Last year, the NCMG reluctantly introduced restrictions to cope with an increasing and unsustainable waiting list and no longer accepts referrals for the common types of cleft lip or palate, deafness, Down syndrome or neural tube defects.

There is no other genetic service in the Republic of Ireland to which these families can turn, a sad reflection on genetic service provision in Ireland.

Ireland has one of the lowest levels of clinical genetic consultants and genetic counsellors in Europe. There are only four consultants, or 1 per 1,150,000 people, compared to 1 consultant per 400,000 in France, 1 per 300,000 in Northern Ireland, and 1 per 200,000 in Finland.

The lack of staff also impacts in many other ways. Ireland is required to have an EU-recommended national plan for rare disease by 2013. 80% of rare diseases are genetic, and the lack of specialist genetic staff means that Ireland will not be complying with EU recommendations on the care of patients with rare diseases.

Our NCMG laboratories are significantly underresourced and have lost nearly 20% of staff, due to cutbacks and recruitment embargoes. Some of our laboratory equipment is coming to the end of its useable life and needs replacing.

We are unable to provide the most up to date genetic testing that Irish patients deserve, leading to patients’ samples being sent abroad at significant expense. With adequate resources and staff, this testing could be carried out at lower cost in the NCMG. The requests for genetic testing continue to increase each year. Despite the cutbacks, and increased workload, our laboratories have been independently accredited and are in the top 10 of European laboratories for quality performance.

We are heavily reliant on charitable funding to run a service that should be HSE funded. This year new chromosome array testing has been introduced for Irish patients, but the funding for the equipment has come from a charitable donation from the Children’s Medical and Research Foundation (CMRF), not the HSE.

The NCMG also sees families affected by Sudden Adult Death Syndrome, of which about 20% is genetic. Because of the long waiting times, three charities have funded a genetic counsellor, to reduce the clinic waiting times for families with Sudden Cardiac Death.

The Neurofibromatosis Association of Ireland has funded a part-time genetic counsellor to run a specialist clinic in the NCMG. Both posts have helped these families to be seen sooner, for which we and the families are very grateful.

However, we have not simply accepted this situation. In the last four years we had 14 meetings with the HSE. Submission of three business plans, three requests for needs assessments, three requests for workforce planning, and a risk assessment have not resulted in any additional funds to run the NCMG.

In contrast, despite increasing demands for clinical and laboratory services, we have had to make the same 5% annual saving requested of all HSE funded units.

We have been strongly supported by our colleagues in the patient support organisations, such as the Genetics and Rare Diseases Organisation, but their valuable support has not been able to improve our situation with the HSE.

With the regular restructuring of the HSE, there is no continuity and there is no one HSE official who is prepared to take responsibility for the NCMG as a national service. In the UK, the Department of Health has an entire division to manage genetic services.

For cancer genetic services, the NCMG is now working in partnership with the National Cancer Control Programme (NCCP) and Dr Susan O’Reilly, to improve the situation for those whose families may be affected by hereditary cancer. To run a timely, equitable and state-of-the-art hereditary cancer service requires a significant investment in staff, laboratory equipment and IT infrastructure.

The NCCP has funded, on a temporary basis, additional cancer genetics clinics in St James’s Hospital and the Mater University Hospital.

However, no additional resources for hereditary cancer services were made available from the Department of Health for 2013.

A major issue is also the physical future of the NCMG. The plans for the new children’s hospital on the Mater site did not include the NCMG, and we were unable to clarify with the HSE where the NCMG would go. If those same plans are transposed to the St James’s Hospital site as suggested, then the NCMG will again have a very uncertain future.

If the Minister for Health and Children wishes to have a fit-for-purpose genetic service, he could take three major policy decisions:

* Nominate a member of his staff to take direct responsibility for genetic services nationally.

* Top slice funding for genetic services from the health budget to ensure that the funds for genetic services are directly applied to the NCMG

* Ensure that the NCMG will be part of the new children’s hospital at the St James’s site.

* Prof Andrew Green, director of the National Centre for Medical Genetics at Crumlin Hospital

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