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Newborn genome-sequencing

 

Source: TH

Context: Newborn screening programmes are now in vogue in different countries, and have been deployed in India as well.

 

What is Newborn genome sequencing?

It is the process of analyzing the complete genetic information of a newborn baby. It involves sequencing the entire genome to identify any genetic variations or mutations that may be associated with specific diseases or conditions e.g., Sickle cell anemia, Down syndrome, Fragile X syndrome etc.

Genome sequencing is figuring out the order of DNA nucleotides, or bases, in a genome—the order of Adenine, Cytosine, Guanines, and Thymine that make up an organism’s DNA.

 

Why is it important to sequence newborn genomes?

There are 6,000 or so genetic diseases, of which around 3,500 diseases have been documented. Sequencing newborn genomes is important because it allows for early detection and diagnosis of genetic diseases, enabling timely interventions and treatments.

  • It provides valuable insights into the prevalence of genetic disorders and can help identify potential risks for future health issues.
  • Sequencing healthy newborn genomes can uncover unexpected genetic risks and enable better medical surveillance for personalized healthcare.

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Programmes:

  • Human Genome Project (1990): an international research effort to determine the sequence of the human genome and identify the genes that it contains.
  • Genome India Project

 

Conclusion: 

Ethical challenges related to incidental findings, privacy, psychological impact, and equitable access need to be addressed. With careful consideration, rapid whole-genome sequencing could become a standard procedure for detecting genetic disorders and shaping a healthier future for every child.