New Genetics And Its Implications For Paediatric Practice

Genetic disorders and birth defects collectively form an important component of the health burden and a main cause of chronic illnesses in childhood. Three percent of newborns have major birth defects and represents a major contributor to under-five mortality in Malaysia. While single gene disorders are important from the family’s perspective, other multifactorial conditions such as neural tube defects and cleft lip and palate involving the interplay between genetic and environmental factors are important from the public health’s perspective. In addition, conditions with strong genetic susceptibility such as cancers, diabetes and asthma have become increasingly prominent and many families are turning to their paediatricians are advice and information. Prevention of genetic diseases may be achieved through empowering individuals with information about their genetic risks and enabling them to make informed choices about their reproductive options. Reducing genetic morbidity and mortality would be a secondary goal of prevention. The paediatrician can assist the clinical geneticist in playing an active role in this respect. This include public education regarding genetic diseases, birth defects and strategies to avoid teratogens, providing basic genetic counselling for at-risk families, promotion of periconceptional folic acid supplementation and advising pre-pregnancy management of maternal illnesses and early antenatal visits once pregnancy is confirmed. These strategies require an understanding of the natural history of the disorders, genetic testing techniques and their limitations, and the basic knowledge of genetic counselling.