INTRODUCTION TO CLINICAL GENETICS

Clinical genetics involves the assessment of an infant, child or adult with malformations or dysmorphic features, with a view to diagnosing the condition, managing it, providing treatment where appropriate and the provision of recurrence risks where relevant.

It involves the taking of a detailed history, the performance of a thorough physical examination with relevant investigations and the making of an accurate diagnosis. Information is gathered, pedigrees drawn and past records reviewed. Counseling is carried out, genetic risks calculated and records maintained for future follow - up visits.

Genetic screening and prenatal diagnosis form an integral part of counseling and where appropriate options of treatment in the form of surgery, medications, symptomatic treatment, physical therapy, special education or advice on avoidance of environmental exposure are offered. Replacement of deficient substances and organ transplantations or a sophisticated form of therapy such as gene therapy is also available in a few selected conditions.

The provision of a proper genetic service involves the coordinated efforts of many consultants in a number of disciplines and the exchange of information. In Sri Lanka, the emphasis has to be placed more on the preventive aspects rather than the curative, which compels us to rely on not only genetic counseling to a great degree but also on the more important service Preconception Counseling. Here, advice is made available to individuals or couples before they embark on a pregnancy or even marriage.