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2014 was a year of extremes for those involved in medical genetics, a year of ups and downs. Last summer brought the publication of the National Rare Disease Plan, which finally recognised both the uniqueness and commonality of rare diseases.
“This is good news for patients with rare diseases and the people who care for them. The significance of this plan cannot be overstated because it provides us with a roadmap for the prevention, diagnosis and treatment of rare diseases,” the then Minister for Health Dr James Reilly announced. “The key recommendations of the Rare Disease Plan include the creation of both a Clinical Care Programme and a National Office for Rare Diseases. A designated Clinical Care Programme for rare diseases will improve specialist services and allow for the development of a joined-up model of care for patients.”
However, within a few months of this, developments at the National Centre for Medical Genetics (NCMG) at Our Lady’s Children Hospital, Crumlin (OLCHC), were alarming staff and patient advocates.
The NCMG was catapulted into the national headlines after senior staff at the Centre contacted the Minister for Health in October. They had serious concerns about changes taking place at the facility, following two reviews of the practices at the Centre. While the authors were happy to accept and act on a “significant number of the recommendations” in the reviews, they had “major concerns over two major changes”.
“The first proposal is that the centre no longer be the National Centre for Medical Genetics, but the department of genetics in OLCHC, on the basis that such a change reflects better governance. Such a change was not recommended in either the Donnai or Harper reports.”
The authors of the letter, Dr Sally Ann Lynch, Prof Andrew Green and Ms Rosemarie Kelly, Principle Genetic Counsellor, were concerned that this could lead to a fragmentation in genetic services, leading to “no integration of family data and records”.
“Such a development would also run counter to the hub-and-spoke model of genetics service delivery which Prof Donnai has indicated as her preferred model, and is also recommended by the European Society for Human Genetics.”
A dismantling of this integrated service runs a huge clinical risk and it incurs unnecessary financial costs as other hospitals will have to resource an independent genetic IT system and genetic charts
This proposal also runs counter to the National Rare Disease Plan, they cautioned. They also questioned what would happen to the adult genetic patients, who accounted for 58 per cent of all referrals.
“A dismantling of this integrated service runs a huge clinical risk and it incurs unnecessary financial costs, as other hospitals will have to resource an independent genetic IT system and genetic charts. This excess workload on an already understaffed unit will also increase risk of clinical errors.”
Both the Donnai and Harper reports remain unpublished, a fact which has clouded the matter considerably.
In December, Children’s Hospital Group CEO Ms Eilísh Hardiman, responding in a letter to concerns by Wicklow TD Anne Ferris, sought to reassure the Labour politician about the primary aim of the external Donnai report.
“In particular, I hope to address your concern raised in relation to what you refer to as the ‘downgrading’ of the service. I’m glad you reference the National Centre for Hereditary Coagulation Disorders (NCHCD) at St James’s Hospital in your correspondence because their model of service delivery across the network is one of the proven models.
“Unfortunately, the service at OLCHC, is not established, structured or governed in a manner comparable with the NCHCD at St James’s Hospital and therefore is one of the issues that needs to be addressed.”
In her response, Ms Hardiman went on to quote directly from Prof Donnai, writing “that the status of the NCMG and where it fits into the larger picture has not been made clear within the hospital, and a governance structure within the hospital to address this has now been instituted”.
“The lack of clear clinical governance in the genetic service was one of the primary observations made by Prof Donnai, who specifically recommended ‘to urgently establish a clear clinical governance structure within the department which reports to the hospital structure’.”
Ms Hardiman added that while Prof Donnai pointed out that the Centre is under-resourced, it has some fundamental governance and team relationship challenges that need to be prioritised.
On this point, the integrated service is emphatic.
“The Department of Clinical Genetics at the hospital has always been governed by the Board of Directors of OLCHC. There is no change in this governance or accountability structure,” the hospital told MI recently.
“A decision has been made by Our Lady’s Children’s Hospital to discontinue the separate identification of the service as NCMG in order to be clear that it has no separate governance or responsibility outside of OLCHC. Our Lady’s Children’s Hospital Crumlin is working with the HSE on the recommendations made in the recent HSE review of the genetics centre.”
However, there is clear disagreement about what the reform priorities should be. Lack of staff clearly needs to be addressed (see panel), but this is not a new problem.
Lack of staff
Consultant geneticist at the former NCMG Prof Andrew Greene wrote in the Irish Examiner in 2013 that increasing demands on the Centre’s services meant that it could “no longer accept referrals for the common types of cleft lip or palate, deafness, Down syndrome or neural tube defects”.
“Ireland has one of the lowest levels of clinical genetic consultants and genetic counsellors in Europe. There are only four consultants, or one per 1,150,000 people, compared to one consultant per 400,000 in France, one per 300,000 in Northern Ireland, and one per 200,000 in Finland,” he wrote. “Our NCMG laboratories are significantly under-resourced and have lost nearly 20 per cent of staff, due to cutbacks and recruitment embargoes. Some of our laboratory equipment is coming to the end of its usable 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.”
On this latter point, the National Rare Disease Plan agrees, saying that all “tests done at NCMG meet international standards”. The Plan does linger on the lack of appropriate resources and a ring-fenced budget at the Centre.
“Initially, the NCMG had 18 staff and provided a limited service for the Greater Dublin area and the East Coast area. Over time, the NCMG has obtained further resources and has been able to extend its coverage to additional areas within the Republic of Ireland. It has always aimed to provide an equitable clinical service nationwide and runs outreach genetics clinics in Cork, Galway and Limerick. Notwithstanding these developments, the NCMG has not been immune to considerable staffing and funding challenges in recent years.”
This, it stated, has contributed to a waiting time of 12-to-24 months for referrals to NCMG.
“It is important that genetic counselling be offered to, and provided for, those individuals and families that require it and would benefit by it. Within the Republic of Ireland, however, it has to be acknowledged that although the NCMG aims to promote services in a clinically appropriate manner, a considerable challenge persists in terms of under-resourcing of clinical staff.”
In February of this year, Fianna Fáil health spokesperson Billy Kelleher told the Dáil that genetics staff are not being “supported through this change”.
“They are in fact feeling under extreme pressure as they fear contravention of best clinical guidelines for their patients and clients.”
There are also other issues arising as the 2015 HSE Service Plan did not contain any mention of the National Rare Disease Plan for Ireland 2014-18.
It is inappropriate in general that any department or subsection of any body should declare itself to be a national centre
Mr Kelleher added: “We are also given to understand that self-referrals will also now not be allowed. This means they will now have to go through a general practitioner, incurring an extra cost for individuals and their families. Relative to UK guidelines, Ireland should have 14 genetic consultants and 47 genetic counsellors. Currently, there are four consultants — one has indicated they may leave as a result of the current situation — and only nine counsellors.”
In response, the Minister for Health seemed to be fully supporting the change at Crumlin, questioning whether the Dáil was the appropriate venue for airing what he described as internal grievances.
“I am no expert in this area and have not been particularly involved with it in any personal way but there are a few points that I would make. I think it is inappropriate for any section or department within a hospital to declare itself a national centre. If there are national centres, they should be designated either by the HSE or the Department of Health, or by some other body. It is inappropriate in general that any department or subsection of any body should declare itself to be a national centre. I hope Deputy Kelleher would agree with me on that,” he told the Dáil.
“Clearly, there is a dispute here between some of the staff in Crumlin on the one hand and the CEO and the Board of Crumlin on the other. I do not think disputes within a workplace or institution should be resolved in Parliament. That is not our role. It is important that, if there is a dispute in a workplace or hospital, it is resolved using the appropriate mechanisms within that hospital.”
MI contacted Fianna Fáil for a comment but received none as of going to press. However it is clear from the parliamentary question that the party is concerned. Sinn Féin is also worried about the developments.
“Sinn Féin is of the opinion that there should be a National Centre for Medical Genetics which would retain all services and external clinics that it had previously provided,” Sinn Féin health spokesperson Caoimhghín Ó Caoláin explains.
“I believe that the National Plan for Rare Disease must be rolled out but the National Centre for Medical Genetics must be retained and recognised for the critical work it has done and must perform in the future.
“I also recognise that the work of geneticists can ultimately prove financially very prudent with preventative care. Ireland must increase the number of geneticists per capita as we have traditionally had a low number, especially when compared to other jurisdictions. I would add that there is the further fact that we have a unique genetic make-up as an island people, with particularly high incidence of certain conditions, some referred to as our ‘Celtic footprint’.”
Outside of Leinster House, the members of the Genetic and Rare Disorders Organisation (GRDO) remain deeply uneasy, especially as they have not been privy to the Donnai report in full.
“We haven’t seen the review yet,” Ms Anne Lawlor explains. “I suppose like any situation, when you have concerns about something and you’re not privy to behind-the-scenes, your concerns grow; it’s difficult to know what’s happening.
“I don’t think you can have a National Rare Disease Plan without the cornerstone of it being a good genetic service.”
Without the publication of the Donnai report, this issue seems unlikely to be resolved. However, it is hoped that the HSE’s recently-established steering group, Chaired by Prof Owen Smith, Consultant Haematologist and Special Advisor, Children’s Hospital Group, will bring some much-needed clarity.
As part of its terms of reference, the group will review in detail the Donnai report’s recommendations with specific reference to proposed future arrangements for a National Network for Genetics and Genomic Medicine, “benchmarking with other similar-sized centres internationally”.
The steering group is due to report back in June with a strategic plan for endorsement by the Executive.
Undoubtedly, many will read its findings with interest.
Extracts from the National Rare Disease Plan
Strengths of the current genetic testing system
- Testing done through the NCMG meets international standards.
- The Disability Act Part IV, passed by the Oireachtas and signed into law in 2005, states that genetic testing shall not be carried out unless the consent of the person has been obtained. In addition, genetic tests cannot be used in relation to employment, insurance, pensions or mortgages.
- Weaknesses of the current genetic testing system
- A report submitted in late 2012 to Clinical Leads in paediatrics indicates a waiting time of 12-24 months for referral to NCMG. Due to funding challenges and unfavourable consultant:patient ratios, there is lack of an appropriate method of tracking patients without an appropriate database or specific disease registries.
- Difficulties have arisen in the last two years with funding challenges and excessive untimely access to appointments, according to required standards. This has resulted, inter alia, in non-accredited providers sending tests without referring to specialists in the area or to standard guidelines, giving rise to cost inefficiencies and risk issues.
- The model of funding is on a local model basis. NCMG does not have a ring-fenced budget. Long waiting times impact on, for example, immediate access for linked programmes such as the National Centre for Inherited Metabolic Disorders (NCIMD).
- In addition to delays in diagnosis that may arise from resource challenges in established testing programmes, for ultra-rare diseases, the very rarity of the condition in a relatively small population such as Ireland poses particular diagnostic challenges. This is due to a lack of knowledge among GPs, other health professionals and parents about the signs and symptoms and the appropriate treatment pathways. Many patients and families affected have an undesirably long wait for a correct diagnosis and a worrying number receive an incorrect diagnosis before their final diagnosis is made.
Staffing issues and waiting times
According to material released through the Freedom of Information Act, there are 651 people, both children and adults, on the consultant geneticist waiting list at the former National Centre for Medical Genetics. While the hospital did not respond to the Medical Independent’s (MI) questions regarding whether these were first OPD appointments, the documents do indicate that almost half, 320, have been waiting more than a year, with 11 waiting over three years. For genetic counsellors, the waiting list is similar, with 668 patients waiting. The HSE was contacted for a comment on these figures but did not reply as of going to press.
When contacted by this newspaper regarding staffing levels at the department, a spokesperson for the hospital says there has been no decrease in the consultant staff complement. However, she did not say whether any of these doctors are locums.
“The current staff complement in the Department of Clinical Genetics at (OLCHC) is 62.0 WTE. This includes the following posts:
- 3.37 WTE Genetic Consultants
- 4.83 WTE Genetic Counsellors
- 2.0 WTE rotating Specialist Registrar training posts.”
However, these figures come far short of what is required, according to the National Rare Disease Plan.
“The Royal College of Physicians UK recommends a minimum of three consultant geneticists per million population and the Association of Genetic Nurse and Counsellors UK (AGNC) recommends one full-time genetic counsellor per 100,000 population.” When these ratios are applied to the Republic of Ireland, a total of 14 WTE consultants and 46 genetic counsellors are suggested.
“The Northern Ireland Genetics Service has 6.5 WTE consultants, one trainee registrar, 6.5 WTE genetic counsellors and one WTE family history nurse for a population one-third the size of the Republic. Ireland has the lowest population ratio of genetics staff of 10 European countries studied.”