Genomescope & Relevance of Newborn Genetic Screening in India

Do you know that it takes more than 7 physicians and 4 years for accurate diagnoses⁽¹⁾? Hidden symptoms, misdiagnosis, and lack of awareness are the core reasons for the long diagnostic journey of children with genetic disorders. There is data suggesting that 80% of babies⁽²⁾ with genetic diseases are born to parents with no family history or symptoms.

With the recent emergence of low-cost genome sequencing, it is now possible to detect relevant causative changes in the DNA of almost all of these conditions with a single test. This far exceeds the routine newborn screening tests currently being offered that cover at most 50 conditions.

Newborn Genetic Testing Status in India

The Unique Methods of Management and Treatment of Inherited Disorders (UMMID) is an initiative by the Department of Biotechnology (DBT) under the Ministry of Science and Technology⁽³⁾. The UMMID initiative was introduced to establish molecular diagnostics in hospitals for the benefit of patients and create awareness about genetic disorders amongst clinicians in India. The UMMID scheme was launched on 23 September 2019 by The Union Minister for Science & Technology, Earth Sciences and Health & Family Welfare, Dr Harsh Vardhan.

Highlights of the UMMID Initiative

The Government of India has launched the UMMID initiative to tackle inherited genetic diseases of newborn babies⁽³⁾.

• The programme will be implemented through government hospitals to regularise the use of cutting edge scientific technology and molecular medicine to achieve Universal Health Coverage for all.
• The initiative is designed on the concept of ‘Prevention is better than Cure’.
• In India’s urban areas, congenital malformations and genetic disorders are the third most common cause of mortality after prematurity & low birth weight issues and infections in newborns.
• A very large population and high birth rate, and consanguineous marriage favoured in many communities are some of the important reasons for the high prevalence of genetic disorders in India.
• The UMMID initiative aims (i) 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, (ii) to produce skilled clinicians in Human Genetics, and (iii) to undertake screening of pregnant women and newborn babies for inherited genetic diseases in hospitals at aspirational districts.

References:

1. Rare Disease Impact Report: insights from patients and the medical community [Internet]. Lexington (MA): Shire; 2013. [cited 2021 Nov 29]
2. National Policy for Treatment of Rare Diseases [Internet]. Misintry of health & family Welfare. [cited 2021 Nov 29].
3. Government launches ‘UMMID’ initiative to tackle inherited genetic diseases of new born babies [Internet]. Gov.in. [cited 2021 Nov 29].
4. Blythe SA, Farrell PM. Advances in the diagnosis and management of cystic fibrosis. Clinical biochemistry. 1984 Oct 1;17(5):277-83.