Latest News & Announcements
Important notice regarding name change
As of December 2014, the Genetics service at Our Lady’s Children’s Hospital, Crumlin, formerly known as the National Centre for Medical Genetics will be called the Department of Clinical Genetics. E-mail and telephone contact details are unchanged. This web site will be incorporated into the OLCHC web site in due course.
A review of all the services provided by the Department of Clinical Genetics is planned; we will contact you again if any changes are being made to the current services.
Future changes will include the Cytogenetics and Molecular Genetics Laboratories merging into a single Genetics Laboratory. We will send you more details of this merger once it is complete.
Please do not hesitate to contact us if you have any concerns or queries regarding these changes.
NCMG researchers land Health Research Board Award
A team of researchers from NCRC and OLCHC have been awarded a prestigious and valuable grant by the Health Research Board, to study the genetic basis of kidney damage in children. The team, led by Professor David Barton and Professor Prem Puri, have for many years been looking for genes that cause a condition called vesicoureteric reflux (VUR), which causes kidney damage in children.28th November 2014
Updated sample identification policy
We have updated and simplified our sample identification policy. The required identifiers are now listed in table form for each sample type. The policy is in line with international guidance of sample identification, and is designed to ensure that the right result goes to the right patient every time. Your comments and questions on this revised guidance are welcomed. Please use the feedback form on the Contact page.20th April 2012
Easing of Service Restrictions
The NCMG is pleased to announce the easing of service restrictions imposed in July 2008. While staff numbers remain below 2007 levels, we are now in a position to accept all samples for molecular genetic testing other than hereditary haemochromatosis, and samples for routine cytogenetic testing (karyotyping) from children up to age 4 from hospitals covered by this service.
CPA ACCREDITATION ASSESSMENT
Accreditation is the procedure by which an authoritative body gives formal recognition that a body or person is competent to carry out specific tasks.
An ongoing project for the laboratories of NCMG in 2009/2010 has been implementation of a quality management system to meet the quality standards of Clinical Pathology Accreditation UK Ltd (CPA), and thereby gain CPA accreditation.
The quality standards of CPA cover the organisation and quality management, the resources, and the evaluation and quality assurance activities required to ensure that pre examination, examination, and post examination activities of the laboratory are conducted in such a manner that they meet the needs and requirements of the users.
The CPA assessment date is set for February 2010.20th January 2010
MOLECULAR GENETICS USER SATISFACTION SURVEY REPORT 2009
As part of our commitment to improving services in the Division of Molecular Genetics, we carried out a user survey in 2009.
A PDF version of the report is available for download.20th January 2010
Consent forms for Huntington disease testing
It has always been the policy of the National Centre for Medical Genetics (NCMG) to provide diagnostic testing of patients for Huntington disease (HD) only where there is a written indication that informed consent has been obtained from the patient or their next of kin.
From the date of this letter we now require that this consent be given only on the consent form supplied for this purpose by the NCMG. This is also available to download as a pdf document.
Please note that there is no change to the policy regarding predictive genetic testing for HD, i.e. such tests are only performed following a referral to, and consultation with, a clinical genetics service, such as is available in the NCMG. This is in line with international guidelines on genetic testing.
Please inform all your staff of this important change in procedure, as appropriate samples for HD diagnostic analysis will now only be tested when the sample is accompanied by a completed NCMG Huntington Disease consent form15th August 2009
Update on restrictions of cytogenetic service
Referring Clinicians/Clinics to Cytogenetics, NCMG
I want to give you a brief update on the status of the restrictions for sample acceptance for cytogenetic analysis at the NCMG.
The division, and department as a whole, is still experiencing major staff recruitment problems both for permanent and temporary posts. Therefore, we are not in a position to start lifting restrictions at present. However, based on current projections it is hoped that some softening of the general cytogenetic restrictions can take place early spring 2009. This would be planned to coincide with the point when our report times for routine samples start to significantly reduce.
We are in communication on a number of fronts to resolve the current situation and to allow us to provide a full national service, but as you may appreciate it is unlikely that there is going to be any rapid change.
If you have any questions or comments regarding the situation please do not hesitate to contact me.
Dr David Betts
Chief Clinical Scientist (Cytogenetics)
Partial suspension of NCMG diagnostic services
We regret to inform our service users and patients that we have been forced to temporarily suspend or reduce some services in the Genetics Laboratories, as from Friday July 4th, 2008.
From this date:
- Testing for hereditary haemochromatosis will be discontinued
- Testing for Fragile X syndrome will be suspended
- Cytogenetic testing (karyotyping) will be severely restricted
Please see the following PDF document for details of services that we will still be offering.
This decision has been forced upon us by a deterioration in our staffing levels, due to chronic underfunding and the acute financial situation at Our Lady’s Children’s Hospital, Crumlin.
The staffing situation is likely to deteriorate still further during the summer months.
It is vital that we are in a position to guarantee that samples we do receive are processed in a manner that is safe, timely and which ensures the quality of the subsequent result. Within the Cytogenetic section there is already a significant backlog of cases. It is hoped that we can start to reduce this backlog, although the reporting times may still initially increase before starting to fall.
While these services remain suspended, we recommend that you send samples with a referral reason outside our reduced service panel to a laboratory accredited for such testing. Unfortunately, due the nature of the work involved in preparing samples, we cannot simply store them for later processing. Please see the U.K. Molecular Genetics Laboratory Directory or the European Lab Directory for a list of accredited laboratories.
Given the uncertainties as to future developments, it is currently not possible to define a time-frame for the duration of these service reductions. It is envisaged that when the situation improves, the service will again be gradually expanded.
We are very aware of the inconvenience and the reduction of patient care that may result from these service reductions. We share your frustration at these cuts, as our goal is to provide a full national service for both molecular and cytogenetic analysis. We are seeking support from the Health Service Executive to pursue this goal. Your support in this would be much appreciated.
We will keep you informed of any developments and welcome any comments or questions that you may have. Our contact details are available on the “contact the Centre” page.21st June 2008
Reporting times for Genetic tests
The Genetics Laboratories are operating with reduced staff due to recruitment restrictions. At the same time, sample numbers have increased dramatically. As a consequence, our reporting times exceed international guidelines. We apologise for this regrettable situation, which is beyond our control. We will of course continue to prioritise samples we have identified as urgent.23rd May 2008
New sample ID policy
As part of a continuing process of quality improvement, the NCMG is formalizing its sample identification policy, to ensure that all samples accepted for testing are identifiable to a unique individual. A summary of the policy is available in PDF format. Please note that from October 2nd, 2006 samples not complying with this policy will not be accepted for testing.
Any questions you may have about the policy may be addressed to the Chief Scientist, Dr David Barton.17th July 2006
NCMG partner in development of novel diagnostic device
The National Centre for Medical Genetics is a full partner in a newly-launched European project “SNiP2CHIP”, aimed at developing an integrated, hand-held DNA testing device.
The requirement to screen for known SNPs (single nucleotide polymorphisms) has become one of the key challenges to be addressed to enable the exploitation of the human genome sequence, where approximately 3 million SNPs are responsible for all of the variation within the human population.
Several methods and technologies are currently available for detection of SNPs, but no single platform exists which can deliver 100% accuracy in a low cost, versatile, and easy-to-use integrated system. The proposed research will focus on the development of integrated SNP detection platforms to include modules for DNA extraction and purification from biological samples, DNA amplification, DNA characterisation (including SNP detection), signal transduction, interpretation and data analysis.
Integration of the modules on a single platform will include a transport mechanism based on electrowetting actuation (EWOD). Two alternative SNP detection platforms will be developed based on optical and magnetic sensing respectively. The whole system will be packaged as a single automated functional system with a simplified GUI interface, based on specifications recommended by potential end-users within the consortium. This systems development will focus on delivering a product customised for low to medium throughput, low cost, point-of-care applications, with emphasis on providing very rapid and accurate results. Within the project, the systems will be benchmarked for screening of SNPs in the CFTR gene that are associated with cystic fibrosis. CF patient samples will be used to verify the accuracy and reproducibility of the system in a clinical diagnostics laboratory.
David Barton, Chief Scientist in the Molecular Genetics Division at NCMG, will keep the SNiP2CHIP consortium briefed on the state-of-the-art in molecular diagnostics and will advise on end user requirements and quality issues for the device.
The SNiP2CHIP project, coordinated by Dr Paul Galvin of the Tyndall National Institute at University College Cork, brings together seven research groups from Ireland, the Czech Republic, Estonia, France and Portugal.
SNiP2CHIP is funded by the European Union FP6 program Biosensors for Diagnosis in Healthcare, contract NMP4-CT-2005-0168338th March 2006
NCMG partner in EU Network of Excellence.
The National Centre for Medical Genetics is a full partner in a newly-launched European Network of Excellence, to be called Eurogentest.
Eurogentest is funded by the European Commission to the tune of €10 million over five years to promote and harmonize efforts to improve the quality of genetic testing across the EU.
David Barton, Chief Scientist in the Molecular Genetics Division at NCMG, will lead the Eurogentest activities directed at the development of new reference measurement systems for genetic testing, a direct tie-in to his work in coordinating the EU CRMGEN project.
Dr Barton will also be involved in the external quality assurance and guidelines development activities of the European Molecular Genetics Quality Network EMQN, which will receive renewed EU support through Eurogentest.
The Centre as a whole will benefit from opportunities offered by the network to evaluate new technologies, attend seminars and training courses and to move towards accreditation to international standards.2nd February 2006
N.C.M.G major partners in international autism project
The US National Alliance for Autism Research has invited Dr Sean Ennis and Professor Andrew Green of the National Centre for Medical Genetics to become major partners in an international project to identify genes involved in autism. The Irish Department of Health and Children has pledged €5 million to the project.
Two announcements by the The Minister for Health and Children, Mr. Micheal Martin are presented below:
- Irish Participation in the NAAR Autism Genome Project
The Minister for Health and Children Mr. Micheal Martin, T.D. today (24 September 2004,) announced that €5m is being made available for research in Ireland in the area of autism over the next five years.
The National Alliance for Autism Research (NAAR) Autism Genome Project is a large-scale, international collaborative genetics research project designed to map the human genome in the search for autism susceptibility genes - the genes responsible for the inherited risk of autism. This unprecedented endeavour is the largest research collaboration ever to focus on the genetics of autism.
The project is a research initiative developed and supported by the National Alliance for Autism Research (NAAR) and the US National Institutes of Health (NIH). Over the past three years, NAAR has brought together over 170 investigators from in excess of 50 leading academic institutions in Europe and North America working in the field of autism genetics. This has developed into an unprecedented autism research consortium facilitating the pooling of resources and sharing of expertise.
The Minister has asked the Health Research Board to work with the NIH and NAAR on the mechanism required to award this funding for high quality collaborative research in this field.
The Minister said:
“the fact that researchers in Ireland have been asked to join in this collaborative project is a source of great satisfaction to my Department and to me personally. I am aware that were it not for the groundwork that has already been laid by our researchers we would not have been invited to get involved. In order to ensure that we develop the most appropriate and effective therapeutic interventions, there is a need for more clarity in relation to the factors behind autism. This is particularly important in relation to this area given the ongoing debate concerning both the causative factors and the many approaches to intervention which can lead to conflict between families of persons with autism and those seeking to support them. This is particularly pertinent where there is no sound research basis for a particular intervention.”
- Speech by Mr Micheál Martin T.D., Minister for Health on the occasion of the launch of the Irish involvement in the NAAR Autism Genome Project in the National Centre for Medical Genetics at Our Lady’s Hospital for Sick Children, Crumlin, 14 June 2004.
“I am very pleased to be involved today in the launch of this international project. My interest in autism is well known and whenever possible I try to support sound research.
The National Alliance for Autism Research (NAAR) is the first organisation in the U.S. dedicated to funding and accelerating biomedical research focusing on autism spectrum disorders. It was established in 1994 by parents of children with autism concerned about the limited amount of funding available for autism research. The research initially funded by NAAR has made a dramatic impact on the autism research landscape in the United States, Canada and Europe and has attracted more than $37 million in autism research awards by the National Institutes of Health (NIH) and other funding sources.
NAAR Autism Genome Project
The NAAR Autism Genome Project is a large-scale, collaborative genetics research project designed to map the human genome in the search for autism susceptibility genes - the genes responsible for the inherited risk of autism. This unprecedented endeavour is the largest research collaboration ever to focus on the genetics of autism. It includes more than 170 of the world´s leading genetic researchers from over 50 academic and research institutions focusing on autism and approximately 1,200 multiplex families (two children with autistic spectrum disorders and their parents) from all over the world who are directly affected by autism spectrum disorders.
The project is a partnership between the National for Autism Research (NAAR) and four US Institutes; the National Institute of Mental Health (NIMH), National Institue of Child Health and Human Development (NICHD), National Institute of Neurological Disorders & Stroke (NINDS) and the National Institute of Deafness and Other Communication disorders (NIDCD). Initially, the institutes have collectively committed $2.5 million towards this project and NAAR has committed $2 million.
The importance of collaborative research when it comes to rare disorders is well recognized. In order to satisfy statistical requirements, sample size must be sufficiently large. Whilst autism spectrum disorders are not, relatively speaking , that rare, it is difficult to locate enough persons for genetic studies. For this purpose one needs families with affected parents, siblings or twinships.
As already stated, the NAAR Autism Genome Project aims to tackle this problem by focussing on 1200 multiplex families i.e. two affected children and their families.
Here in Ireland, there is a significant and very successful collaboration between Prof. Andrew Green and Dr. Sean Ennis of the National Centre for Medical Genetics and Department of Medical Genetics, UCD and Prof. Michael Gill, Prof. Michael Fitzgerald and Dr. Louise Gallagher of Trinity College. They are studying the genetic aspects of autism and have been invited to join the project. They are studying the genetic aspects of autism and have been invited to join the project.
The fact that researchers here in the National Centre for Medical Genetics at Our Lady’s Hospital, Crumlin and their associates in UCD and TCD have been asked to join in this collaborative project is a source of great satisfaction to my Department and to me personally.
I am aware that were it not for the groundwork that has already been laid by our own researchers we would not have been invited to get involved. I would like to congratulate those whose efforts will now be built upon.
I recently met with Mr Adrian Jones and Dr Andy Shih, Director of Research and Programmes with NAAR. I informed them that my Department is very interested in supporting Irish participation in this project. I am awaiting more detailed information from them concerning the support which they would envisage receiving from us.
While a very significant investment has been made in recent years in services to support persons with autism and their families, the Government does accept that there is a need for ongoing investment in these services over the coming years.
In order to ensure however that we develop the most appropriate and effective therapeutic interventions, there is also a need for more clarity in relation to the factors behind autism. This is particularly important in relation to this area given the ongoing debate concerning both the causative factors and the many approaches to intervention which can lead to conflict between families of persons with autism and those seeking to support them. This is particularly pertinent where there is no sound research basis for a particular intervention.
I look forward therefore to the day when the fruits of this genetic research will lead to more definitive answers and therapeutic interventions for those affected by pervasive developmental disorders.”