The Burden of Genetic Disorders in India and a Framework for Community Control

Abstract

With a very large population and high birth rate, and consanguineous marriage favoured in many communities, there is a high prevalence of genetic disorders in India. An estimated 495,000 infants with congenital malformations, 390,000 with G6PD deficiency, 21,400 with Down syndrome, 9,000 with β-thalassaemia, 5,200 with sickle cell disease, and 9,760 with amino acid disorders are born each year. The prevalence of late-onset multi-factorial disorders (including coronary artery disease, hypertension and psychiatric disorders) is also large. Due to inadequate diagnostic, management and rehabilitation facilities, the burden of these disorders is greater than in Western countries. Although genetic diseases receive little attention from the health services, research funding by the government has been liberal. Community control of common disorders like thalassaemia, Down syndrome, neural tube defects, and muscular dystrophies deserves high priority, and genetic services should be integrated into the existing primary health care and medical services. Most genetic counselling would have to be provided through training physicians who staff the district and medical school hospitals. To ensure future progress, there is a need to establish additional departments of medical genetics in medical schools.

Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?

“…CAH incidence rates have been reported to vary between 1:10,000 and 1:20,000 live births, in most parts of the world. In India, it is thought to be higher although the published reports have been sketchy, and many reports were published from a single center [19][20][21][22].…”

Frameworks of Choice: Predictive and Genetic Testing in Asia

“…Geneticists argue, however, that India is undergoing an epidemiological transition: many neonatal infections are better controlled today, which means that over time, the proportion of perinatal mortality attributable to birth defects has increased. If the incidence of birth defects is assumed to be 2 per cent, then 500,000 babies are born with some form of birth defect every year in India (Verma & Bijarnia 2002). Paediatricians argue that prevention is the best strategy, given that cure after birth is difficult and costly.…”

“…An estimated 9,760 infants are born with amino acid disorders each year (Verma & Bijarnia 2002); UNICEF (2004) estimates are even higher -12,500 children annually. If this is not detected early enough, in most cases this leads to irreversible brain damage as time progresses.…”

“…Even though India shoulders one-third of the global burden of genetic diseases (Balgir 2001;Verma & Bijarnia 2002), there are no specialised institutes to train genetic counsellors who can work in diverse field situations where there is a need for them. In the real situation, the people who end up doing jobs as genetic counsellors are drawn from various academic backgrounds with minimal exposure to the issues that they are expected to deal with.…”

Noninvasive Prenatal Testing: The Indian Perspective

“…Counting methods suffer more at low FF, as there is less distinction between the euploid and aneuploid distributions [27]. Karyotype can only detect deletions/duplications of size [7][8][9][10] Mb. The common microdeletions tested are 22q11.2 deletion/DiGeorge syndrome (may have cardiac defects detected on ultrasound), 1p36 deletion, Angelman syndrome, Prader-Willi syndrome, and Cri-du-chat syndrome.…”