Management of Genetic Disorders

As there are so many different genetic conditions, the individual management will vary from one condition to the next. In our Clinical Genetics service, the focus is firmly on diagnosis with a view to optimizing management i.e.

1- Identification of the Optimal Management Required Going Forward

Once a diagnosis has been established, the discussion with the patient is about what future needs for optimal management arise. Sometimes the care and expertise of those already involved in the case is adequate, often the patient will benefit from more specialized ongoing monitoring, such as regular echocardiography, or ECG evaluation with therapeutic intervention. 

2 -Identification of the Appropriate Expertise Required

Each case has its own requirements and the most appropriate Consultant expertise is sought for further ongoing oversight of the newly diagnosed patient.