Paediatrics: Practical issues relating to genetic testing

Practical issues relating to genetic testing

Counselling the family before testing

Diagnostic testing

Think carefully about the potential impact of the diagnosis you may make with a genetic test. Some genetic conditions are relentlessly progressive and life-limiting, e.g. DMD. Others imply lifelong impairment of a child’s ability to learn and communicate, e.g. Angelman syndrome, fragile X syn-drome. If you make a genetic diagnosis, it is likely to remain a permanent aspect of that child’s life. There may be some treatable elements to the condition, but it is unlikely to be transient or curable. The diagnosis may have implications for other family members. The family should preferably be counselled by a clinical geneticist, before a genetic test is performed. Ensure that the parents understand what you are testing for and why. Explain how long it may take to obtain a result and make careful arrange-ments for communicating the result.

Predictive testing

The circumstances in which this may be appropriate can be complex and can vary for different disorders. This should be arranged through a clinical geneticist.