Clinical judgement still counts strongly alongside genetic testing

The study found that locally, nationally and internationally specialists in dysmorphology are recognised by their professional peers as having knowledge and authority in the field.

The field of dysmorphology embraces on the one hand the new medical technologies being employed and interpreted, and on the other the long-standing features of clinical medicine. Interviews with families of dysmorphic children revealed that, for some, identifiying a genetic reason for various problems and delay in development can provide a source of satisfaction. It can remove doubt and uncertainty as to the condition itself.

Some parents have real concerns over the possibility that they are in some way responsible for their children's problems. In particular they worry whether their lifestyle choices, such as smoking in pregnancy, are the cause of their child's troubles.

Identifying a genetic condition, whether inherited or a sudden occurrence, exonerated parents over their child's problems and alleviated their feelings of guilt and responsibility.

In addition, a 'medical label' provides access to support and resources, including educational and other medical services.

For other families, however, identifying a genetic cause for the child's disorder can result in more unclear reactions, or even real distress.

Again, the reasons for this response are complex, including what the study calls the 'death of hope', because a genetic diagnosis can confirm that a child's troubles cannot be reversed or repaired.

And a genetic diagnosis may include a poor prognosis, or be seen to have grave ramifications for other, including future, family members.


Contact: Becky Gammon
Economic & Social Research Council

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