Genetic Counselling


Gauchers News Contents


Genetic counselling means the communication of information and advice about inherited conditions in order to help an individual or family comprehend medical facts, including diagnosis, the probable cause of the disorder and the available management, explained Sian Goodwin, Clinical Nurse Specialist for Gaucher Services at the Royal Free Hospital, during her talk at the UK Conference on 30 November 2004.


It is important for genetic counsellors to impart accurate, up-to-date information so that individuals can be empowered to make informed decisions. Individuals and their families should also be provided with support, advice and reassurance.

People can feel anger, blame or uncertainty. They can also experience relief if a more serious illness was originally suspected. New referrals can come from several sources; these include having a known family member already with the disease, a new diagnosis or as a result of investigating another disorder.

Establish Relevant Factors

When meeting individuals for the first time, it is important to establish a number of relevant factors:

Further advice includes:

We also describe what investigations and blood tests are involved, the relevance to the rest of the family and what will happen to the patient. We provide information, ensure understanding, organise scans and blood tests, which include the level of enzyme activity and DNA sampling.

Review Results and Initiate Treatment

We then review all results, discuss with individuals what treatment and management options are available, and organise treatment where indicated by Dr Mehta.

If required, we request funding for enzyme replacement therapy, initiate infusions and organise home therapy. We also plan follow-up appointments and reviews to ensure that the patient is correctly monitored.

Our team aims to provide a week day service with telephone support, prompt appointments, an open door policy where necessary and remain informal.

This includes a screening service for anyone concerned about Gaucher disease. We aim to fulfil our role as a centre of excellence and expertise so that patients can learn to live life to the full with their condition.

See also the Gauchers Association's position paper on Genetic Screening and Counselling.


Gauchers News Contents

Source: Gauchers News March 2004.
© Copyright Gauchers Association 2004.