Newborn screening programmes
Newborn screening programmes now in vogue in different countries, and which have been deployed in some states in India as well.
They are based on the fact that an early diagnosis could allow us to use effective treatments and save an infant from death or disability.
Genomic-sequencing – offers a much better coverage of genetic diseases to screen for.
This could help healthcare workers make a fast and effective diagnosis.
Helped by the fact that sequencing is also a ‘single’ test, versus the multitude of tests performed as part of routine newborn-screening.
Why is it important?
There are 6,000 or so genetic diseases, of which around 3,500 diseases have been documented, and a much smaller number have had their molecular and/or genetic defects mapped.
A significant number of diseases in the population are also treatable but are nevertheless prevalent.
The rarity of many genetic diseases, the narrow window of opportunity, the long diagnostic paths, and the unfortunate deaths of ill babies makes it very difficult to document and understand these diseases.
However, population-scale genome-sequencing efforts have provided insights into the prevalence of many of these diseases in an unbiased manner.
Discoveries in the past three decades have also allowed a small but significant number of diseases to be treated or managed effectively.
This in turn opened up a newer opportunity: to diagnose and treat genetic diseases through genomic-sequencing in newborn babies, especially sick ones.
With technological advances, including better AI-based tools to assist clinical decisions, rapid sequencing is likely to become a diagnostic mainstay for unwell infants in clinics.
Ethical challenges
Issue of disclosing and managing incidental and secondary findings raises concerns about privacy and the psychological impact on families.
The equitable distribution of benefits and burdens associated with accessing and utilising this technology also invoke issues of justice and fairness.
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