Verma I C, Bijarnia S
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
Community Genet. 2002;5(3):192-6. doi: 10.1159/000066335.
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 beta-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.
印度人口众多、出生率高，且许多社区盛行近亲结婚，因此遗传疾病的患病率很高。据估计，印度每年有49.5万名先天性畸形婴儿、39万名葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症患者、2.14万名唐氏综合征患者、9000名β地中海贫血患者、5200名镰状细胞病患者以及9760名氨基酸代谢紊乱患者出生。迟发性多因素疾病（包括冠状动脉疾病、高血压和精神疾病）的患病率也很高。由于诊断、治疗和康复设施不足，这些疾病给印度带来的负担比西方国家更重。尽管遗传疾病在卫生服务中很少受到关注，但政府提供的研究资金却很充裕。对地中海贫血、唐氏综合征、神经管缺陷和肌肉萎缩症等常见疾病进行社区防控应成为重中之重，而且遗传服务应融入现有的初级卫生保健和医疗服务体系。大多数遗传咨询工作将不得不通过培训在地区医院和医学院附属医院工作的医生来开展。为确保未来取得进展，有必要在医学院增设医学遗传学系。
