Genetic Counselling

Debby Lambert, MSc, European registered genetic counsellor

Genetic counselling is a communication process that aims to help patients understand, adapt and adjust to the consequences of a genetic diagnosis.  The genetic counsellor’s role is to help people understand and make choices regarding the management of a genetic diagnosis, in line with their beliefs and goals. Genetic conditions frequently have a ‘ripple effect’ that spreads to the wider family.  What a genetic diagnosis means for the whole family is always part of the discussion.

Debby Lambert is part of the Fetal Medicine multidisciplinary care team. She meets with women and couples where a genetic diagnosis or chromosome change is found with CVS or amniocentesis testing.  When ultrasound scans have findings that could be linked to a genetic diagnosis, Debby will meet with you to explain the specialized genetic testing and discuss the possible outcomes of the test.

There is also a genetic counselling clinic for Rotunda patients and their partners who do not attend Fetal Medicine. Women are referred from all other Rotunda clinics such as Maternity Outpatients, Neonatology, Recurrent Miscarriage, and Gynecology clinics. Your GP can also refer you directly.  Reasons for a genetic counselling appointment include:

• You or your partner have been diagnosed with a genetic condition
• You or your partner carry a chromosomal rearrangement
• Your baby has been diagnosed with a genetic condition or a chromosomal condition by the Rotunda neonatologists
• You and your partner carry a genetic condition where there is the risk of a baby having a severe medical condition
• You or your partner have a family history of a genetic condition and you would like to find out if you are a carrier for this condition.

Before Debby meets with you we may need to receive reports about the genetic diagnosis in your family in order to give you the most accurate information possible.

A genetic counselling appointment includes discussion of:

• your family history details
• the genetic or chromosome condition
• the chance that the condition will happen in your children
• options available for testing a pregnancy or a baby
• whether other members of your family might be affected by the same condition

We will discuss all the options available open to you, and it is up to you to choose the best path for you and your family.  If you are pregnant, we will arrange an appointment as early in pregnancy so you have time to consider all options.  

Referrals for genetic counselling should be made through the Fetal Medicine department at [email protected] .

Genetic counsellors do not make the clinical diagnoses of genetic syndromes.  If you or your child is waiting for an examination to see if you have a genetic diagnosis, you will need to see a Consultant Geneticist or other Specialist Consultant.  Your doctor can refer you to a consultant geneticist at CHI Crumlin if necessary.  If you are not a patient of the Rotunda hospital, you can access genetic counselling services from CHI Crumlin, please ask your GP for a referral.