empowering the neurogenetic testing services in developing countries: use the basic skills with speed and scale

1 Although genetic and inherited disorders are individually rare, they collectively affect about one in 17 individuals in Western population 1. Genetic abnormalities at conception are more common and many of them become incompatible for embryo survival. In fact, chromosome abnormalities in embryo account for about 50% first trimester pregnancy losses. Most of these genetic abnormalities are numerical chromosome aberrations and recurrence risk of numerical chromosome abnormalities in subsequent pregnancy is low. However, neurological developmental abnormality among survivals with chromosomal aberrations , such as trisomy 21 (Down syndrome), is almost universal. Neurogenetic diseases aren't that rare: informing the lawmakers Despite the fact that genetic disorders are not less frequent in developing countries than the Western population genetic tests continue to be under prescribed for poor patients or referred to private labs. Deeper analysis shows that public hospitals have not taken the initiative in launching these services in developing countries such as India. Those which are running these facilities do not receive patients as these get lost to private labs. While it is true that the spectrum of diseases in developing countries mainly comprise of infectious diseases and malnutrition which is exacerbated with poverty and limited access to health care, it is equally true that the most diseases are the result of variable environment-gene interactions. The fact that other scourges (like poverty, malnutrition, tuberculosis, malaria, and HIV) in developing countries have made genetic diseases appear invisible , data thus far, does not suggest that the health system in developing countries should neglect them. Chromosomal abnormalities and mono-genic diseases occur in over 1% of the population anywhere in the world. Poly-genetic and multifactorial contribution to human diseases is far more common. Chromosomal and Mendelian hereditary disorders affect central and peripheral nervous system disproportionately morein frequency and severity than it affects other organ systems. This is partly because of the large spectrum and complexity of motor, sensory, autonomic and other neuronal systems; over half of the gene pool in human genome is transcribed and expressed in the nervous system. For example, the most common chromosomal abnormality-trisomy 21 (Down syndrome) affects nervous system and causes the most common syndromic mental retardation. Incidence of trisomy 21 progressively increases with maternal age, from approximately 1 in 250 at 35 year-age to 1 in 20 at 45 year-age. For this reason, the anti-natal screening for trisomy 21 is a standard of care for all pregnant women age …