Role of a Clinical Geneticist

Thanks given to 'Supporting Aussie Kids with Kabuki Syndrome' (SAKKS) for making article available.

What role does a clinical geneticist play in the lives of children and adults with Kabuki syndrome?

Children and adults with Kabuki syndrome often see many health professionals. These may include, but are not limited to, their GP, paediatrician, physiotherapist, heart specialist, speech pathologist, dentist, orthotist, immunologist, and eye specialist. Once every couple of years, they might see a geneticist. What does a geneticist do? And what can a clinical geneticist contribute to the lives of families affected by Kabuki syndrome?

A clinical geneticist is a medical specialist who cares for people with conditions that have a genetic component. A large part of clinical genetics practice is the management of children who are born with multiple birth defects, some of whom are diagnosed with a condition such as Kabuki syndrome. Clinical geneticists usually become involved in the lives of such children when they are asked to make a diagnosis to explain the pattern of medical problems experienced by the child. Kabuki syndrome is a rare condition that is distinctive. Its recognition allows advice and management to be tailored specifically for the affected individual. We base this advice on what we know from our collective medical experience of looking after other individuals with Kabuki syndrome.

Making the diagnosis of Kabuki syndrome does not give us the power of a crystal ball. It does not predict what problems will happen, or when they will happen. But it does allow us to draw up a plan to anticipate some of the problems that might happen, and to avoid them, or at least reduce their impact. It is somewhat like drawing up a road map for the future, to help keep the child on the healthiest route. The clinical geneticist is aware of the possible complications of Kabuki syndrome, and is able to guide the whole care team about how to keep the affected child in the best possible health.

Often a diagnosis of a condition like Kabuki syndrome means that the child will have special needs in the future. The clinical geneticist is in the position to advocate for additional help in school to maximise the learning potential of a child with Kabuki syndrome. The clinical geneticist is also in a position to offer support and care to the entire family, not just the affected child. Often parents have questions about whether they might have another affected child, or whether their other children might have an affected child. These are questions that a clinical geneticist can address. We are also aware of any new research findings, and can provide this information or facilitate involvement in an ongoing research project.

By following a child and his or her family over many years, we learn a great deal about some of the difficulties that have to be overcome, and hopefully contribute in a positive and meaningful way in the management of the family’s medical and genetic health.