Klinefelter's Syndrome
Association UK

Does Understanding Our Difference Make a Difference?

Have your say on the benefits of genetic testing for learning disability.

Why? Why did this happen to us? What caused it and how can we make it better? These are questions that families with learning disabilities often ask. At the Cambridge Genetics Knowledge Park[1] we are undertaking a project that – with your input– we hope will improve the advice and support that can be provided to these families. 

‘Learning Disability’ is a general term that refers to someone who finds it hard to learn, reason, or interact.[2] While learning disability may be caused by a variety of factors, in some groups there seems to be an identifiable genetic difference that can be said to have caused the condition. As science advances we have an increasing number of tests that can help us identify the genes that cause these types of learning disabilities. 

In many cases there is a benefit to be gained from a genetic test. It may for instance: lead to treatment; inform of the possibility that further children might have special needs; or reveal that other family members will not be affected by the condition.  However, in other instances the benefit of a genetic test isn’t so clear and the test will provide no more than the diagnosis.

Is simply knowing something’s root cause enough?  Are there times when it is better not to know? How could we improve the way a test is undertaken, delivered and followed up? We think these are important questions that need to be addressed. 

It’s vital to draw on the experience of people who are affected by a learning disability about how a genetic diagnosis has impacted, or could impact, on their lives.  We plan to undertake discussion groups in Cambridge and London (travel and care costs can be reimbursed) supplemented online forums.  We are also happy to hear the personal stories of those unable to participate in the above events.  We aim to use this feedback to build guidelines on the way genetic testing for learning disability occurs. 

If you, a family member, or someone you care about has a learning disability we would greatly appreciate your expertise and experience.  If you would like to be involved, please contact the Public Involvement Manager (Brendan Gogarty) by email [email protected] , phone 01223 740784 or by post [Cambridge Genetics Knowledge Park, Worts Causeway, Cambridge CB1 8RN].  Your unique contribution is valuable to us, so please help us make a difference.

Note from KSA: The text above has been provided by Brendan Gogarty from CGKP.  If you have concerns regarding the authenticity of any researcher making appeals on this site please contact the KSA.  Go to Cambridge Genetics Knowledge Park homepage

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