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.

Genome-Scope: What LifeCell Is Doing Differently

LifeCell has introduced Genome-Scope, a comprehensive genetic diagnostic test for newborns which uses advanced Next-Generation DNA Sequencing Technology to analyse over 4000 genes related to childhood-onset disorders with >95% accuracy. In healthy newborns, it provides information for changes in 1200 genes related to childhood-onset diseases which have >80% chances of manifestation. In sick children, it provides information on an additional 3000 genes with 20-80% chances of developing the disease. While not all conditions detected with this advanced diagnostic test may have treatment, the parents may seek such information as it may help prepare for the care of the baby and also in future family planning. Thus, it has the potential to not only expedite the diagnostic journey but also to save lives and improve the quality of life.

We also provide free pre- & post-genetic counselling support to address all your doubts, record your family history and interpret the results. It serves as a particularly important tool for those parents with a family history of a genetic disease or those who have previously lost a child to one. However, as stated earlier, 80% of babies with genetic diseases are born to parents with no family history or symptoms underlying the importance of this test to all families. Genome-Scope also offers raw data storage in the cloud for future use, as well as re-analysis within the first two years of the baby’s life if the symptoms become apparent or some new genomic information becomes available.

Know more how Genome-Scope has made a difference in lives of families (link to case studies page).

To know more about Genome-Scope or book a test, call 18002665533 today.

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.