The clinical service is staffed by four medical consultants and six full-time genetic counsellors. We have a further three genetic counsellors who are funded through charitable organisations who provide services to families with specific genetic disorders.
Children and adults with:
Clinical Genetic consultants see families (adults and children) with either complex or unknown disorders which are thought to have a genetic basis. Our role is to make a diagnosis if we can, discuss recurrence risks and advise on preventative options if available. We also advise on any new clinical trials that we are notified of.
Genetic counsellors are graduates with either a scientific or nursing background who train in genetic counselling. Genetic counsellors advise families on the risk of recurrence of the genetic disorder within the family where there is a known genetic diagnosis (mostly confirmed by a genetic blood test). They discuss preventative options including reproductive options and the importance of folic acid for those families who have a child with a genetic problem.
The cancer Genetic counsellors discuss cancer screening including mammography and prophylactic surgery options. The cardiac Genetic counsellor, who is funded by the Children’s Health Foundation Crumlin, Cardiac Risk in the Young (CRY) and Heart House, discusses genetic testing for disorders causing sudden adult death syndrome. Both of the latter two counsellors will arrange cascade genetic testing for at-risk relatives and any screening options. With increasing availability of new genetic tests, we are finding an increasing number of referrals to help with interpretation of genetic test reports.
There is a genetic counsellor employed by the neurofibromatosis (NF) society who provides clinics to patients affected by NF1 and NF2. Shire pharmaceuticals have recently funded a Genetic counsellor to help with the volume of metabolic referrals from the National Centre of Inherited Metabolic Disorders (NCIMD) to the Department of Clinical Genetics.
The service is free and is mainly out-patient based. Most clinics are held for adults and children at CHI at Crumlin but we do hold regular clinics in CHI at Temple Street as well as Cork University Hospital, Limerick Regional Hospital and Galway University Hospital.
In the last twenty years, huge advances have been made in the field of Clinical Genetics. Isolation of many new disease genes has allowed us to confirm diagnoses, offer cascade screening to at-risk relatives and offer preventative options to couples at high risk. Unfortunately, our service is not as comprehensive as we would wish and waiting lists far exceed European norms.
We process referrals through our triage process. Following triage, referrals are dealt with in a number of ways:
We request steps (3) and (4) to help expediate appointments. In some cases the information provided means that we can reassure the family without the need for an appointment, thereby freeing up appointment times for those at risk and maximising efficiency of waiting lists.
For any predictive genetic tests, patients must be seen first prior to a blood test being taken. Any referrals that are awaiting blood tests or further information are put on hold pending the results of the tests or the receipt of the information.
We introduced restrictions on our service in February 2012 as our waiting times were unsustainable and our staffing levels are inadequate. We no longer offer genetic counselling to parents of children with the following conditions: isolated cleft lip/palate, non-disjunction trisomy 21, isolated deafness and neural tube defects. Whilst we regret this restriction, we had no option. None of these disorders are rare diseases and there is some support for these families within the health care providers which can partly compensate. Rare disorders were prioritised as there is minimal to no support for many of the rare diseases. These restrictions will be reviewed on an ongoing basis. Should our staffing crisis improve in the future we will reconsider this decision.
The EU Council Recommendation on rare diseases came into force in October 2013. As 70-80% of rare diseases are genetic, this directly affects our service. Essentially, any patient with a rare disorder has a right to up-to-date information about their condition, regardless of the rarity of their disorder. They also have a right to travel within Europe to access advice, treatment and/or ongoing clinical trials if they cannot access a centre of expertise within their own country. We have had to prioritise these families as, often, we are the only centre that can provide the service required.
The diseases are rare, patients with rare diseases are many
The paradox of rare diseases is that, whilst each disease is individually rare, collectively there are thousands of rare diseases which mean that overall they are common. In fact, there are approximately 160,000-200,000 people living with a rare disease in the Republic of Ireland. It is therefore not unusual to have a rare disease.
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