Practical issues relating to genetic 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.
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.