Jacqueline Turner, Genetic Counsellor outlines the work of the National Centre for Medical Genetics


The National Centre for Medical Genetics was set up in Our Lady’s Hospital for Sick Children in 1994; the service is available to both adults and children and their families affected by or at risk of a genetic disorder.

The centre comprises three integrated units: a clinical service, a cytogenetic laboratory and a molecular laboratory. This article will focus on the clinical aspect of the service, which began in 1997–three years after the laboratories had been set up, because clinical services depend on a strong laboratory backup. There are now two clinical consultants, a medical registrar (training in genetics) and two genetic counsellors providing genetic counselling to the population of the Republic of Ireland.

What is genetic counselling?

Genetic counselling is a term used to describe the consultation(s) between a consultant clinical geneticist or genetic counsellor and the person or family affected by/at risk of a genetic disorder.


Genetic counselling seeks to determine whether a particular physical or intellectual problem is being caused by a genetic element. This involves a non-intrusive physical examination of the person by a consultant clinical geneticist. Consultant clinical geneticists can sometimes see subtle changes in physical characteristics that might give a clue as to whether the person has a genetic condition. The consultant looks at the person as a whole, examining the medical records in order to determine whether the person has a genetic condition. The consultant may feel that further tests are necessary to determine why a person has certain intellectual or physical features.

When the diagnosis is known:

Genetic counselling helps affected and/or at-risk individuals to understand the nature of the genetic disorder, its transmission and the options open to them in management and family planning.

When the diagnosis is unknown:

Even in the absence of a diagnosis it may still be possible to estimate the chances of a particular condition reoccurring in a future child. Once families are referred to our service, information and support are available on an ongoing basis, according to family and individual need.

In what circumstances should someone be referred for genetic counselling?
  • The birth of a child with developmental and/or physical problems for which satisfactory explanation has been given
  • The diagnosis of a hereditary disease in the family, e.g. cystic fibrosis, Fragile X, Prader Willi Syndrome, Angelman Syndrome, familial cancer, Huntington’s disease
  • A woman who has had three or more miscarriages
Frequently asked questions that we attempt to answer:

Why do I/does my child have these problems?

Is there a genetic diagnosis for these problems?

What are the chances of my children/grandchildren having similar problems?

Will this condition affect other members of my family?

How can one access the genetic counselling service?

In order to be seen by a genetic counsellor or consultant clinical geneticist, you need a letter from your GP or other medical professional referring you to the service. The letter should outline briefly why you are being referred.

Do I have to travel to Dublin?

No. We provide a genetic counselling service for the whole of the Republic of Ireland and run genetic counselling clinics in Cork, Galway and Limerick as well as in Dublin.

How long will I have to wait for an appointment?

We have been working hard to reduce the waiting times for those wishing to see us. At present people wait on average 3–4 months for an appointment.

What happens when I am referred?

Before you attend the genetic counselling session you will be asked details about your family history. Such details are important in determining whether a condition is likely to be inherited and the way in which it is being inherited. The sorts of questions asked about family members are their names, ages, and whether or not they have any illnesses. If a family member has died, you will be asked what they died from. It is important for you to remember that this information is family information and will be kept strictly confidential within your family.

Do I have to pay for this service?

This service is funded by the Department of Health; patients wishing to avail of the service do not have to pay for it. The genetic consultants also provide a private (fee-paying) service for those patients who wish to be seen privately.

For more information on the genetic counselling service please telephone:
Secretary: 01-4096739; one of the genetic counsellors: 01-455 0811/409 6812


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