Abstract
Genetic testing for single gene disorders is becoming available in Sri Lanka. While it offers many benefits, there are concerns about psychological and social problems that can be a consequence of such tests. This article aims to review the potential benefits and disadvantages of genetic testing, and recommends mechanisms that would help minimise problems associated with the inappropriate use of genetic tests.
Highlights
The main clinical outcome of human genetic research has been the ability to offer genetic testing for single gene (Mendelian) disorders
If no treatment is available to prevent or ameliorate a disease, one option for carriers is to undergo prenatal diagnosis and termination of affected pregnancies. As this is not an option currently available in Sri Lanka, should carrier testing be offered? Counselling will help individuals to decide on the issue: some may wish to find out their carrier status and make reproductive choices; others may wish to exercise their right not to know
Genetic testing is available in Sri Lanka but evidence from other countries suggests that genetic tests can have adverse consequences
Summary
The main clinical outcome of human genetic research has been the ability to offer genetic testing for single gene (Mendelian) disorders. This article is intended to make clinicians aware of important ethical and technical issues involved in genetic testing, and to explain the need for a consensus on such issues. Genetic testing can be used in the four following situations
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