Genetic disease is any of the diseases and disorder caused by mutation in one or more genes. With the increasing ability to control infectious and nutritional diseases, there has come the realization that genetic diseases are a major cause of disability, death, and human tragedy.

In developed nations it is rare to find a family that is entirely free from any known genetic disorder. Furthermore, genetic defects are the major known cause of pregnancy loss in developed nations, and almost half of all spontaneous abortions (miscarriages) involve a chromosomally abnormal foetus. About 30 percent of all postnatal infant mortality in developed countries is due to genetic disease.

Moreover, even in developing countries genetic disease are becoming more visible and significant. For example, In India’s urban areas, congenital malformations and genetic disorders are the third most common cause of mortality in new-borns.

With a very large population and high birth rate, and consanguineous marriage favoured in many communities, prevalence of genetic disorders is high in India.

India’s response: the UMMID initiative: -

Taking into account that it is becoming a significant health burden, India has started the UMMID Initiative which is designed on the concept of ‘Prevention is better than Cure’.

UMMID initiative aims to

• Establish NIDAN Kendras to provide counselling, prenatal testing and diagnosis, management, and multidisciplinary care in Government Hospitals wherein the influx of patients is more.
  
  
• Produce skilled clinicians in Human Genetics.
  
  
• Undertake screening of pregnant women and new born babies for inherited genetic diseases in hospitals at aspirational districts.
  
  

For most of the time, genetic diseases were considered as rare disease and thus not more attention was given to them. But now scientists and nations have started to take it more seriously.  For example, India has launched the National Health Policy, 2017 aiming to shift focus from “sick-care” to “wellness” and UMMID initiative will help in achieving wellness by promoting prevention of genetic diseases.