Genome-sequencing screening of new born children
About:
- Of the 6,000 or so hereditary ailments that are known to exist, only around 3,500 have been recorded, and a much smaller number of these illnesses have had their molecular and/or genetic faults traced.
- Despite being curable, many diseases are widespread in the community.
- Newborn screening initiatives, which are currently popular in several countries and have been adopted in various Indian states, screen infants in order to apply effective therapies and avert child mortality or impairment.
- But because the types of genetic tests that are often covered by newborn screening programmes are limited, they frequently miss the window of opportunity.
- Genome sequencing is becoming more widely available, affordable, and convenient thanks to recent breakthroughs.
- Additionally, it offers far more coverage for testing for genetic diseases.
- Importantly, sequencing is also a “single” test as opposed to the various procedures carried out as part of conventional newborn screening; this could help medical practitioners make an accurate diagnosis quickly.
Its Importance:
- Due to the rarity of many genetic diseases, the little window of opportunity, the drawn-out diagnostic procedures, and the tragic baby deaths from illness, it is extremely difficult to identify and understand these abnormalities.
- However, population-scale genome-sequencing programmes have offered unbiased insights into the prevalence of many of these illnesses.
- Additionally, thanks to advancements made in the previous three decades, a modest but significant number of illnesses can now be effectively treated or managed.
- In turn, this opened up a new possibility: using genome sequencing to detect and treat genetic problems in neonates, especially sick ones.
Examining young, healthy babies:
- Infants that are healthy may benefit from sequencing as well.
- A recent research study that was finished and published in the American Journal of Human Genetics looked at the sequences of 127 infants who seemed to be in good health and 32 sick youngsters.
- An unanticipated risk of genetic abnormalities was found in slightly more than 10% of neonates.
- After three to five years of follow-up, sequences revealed the diseases’ aetiologies in three of the kids; for the other 14 babies, a deeper understanding of the risk allowed for improved medical surveillance.
- It was also justified to sequence the additional at-risk family members of 13 babies’ genomes. Three of them benefited from the procedures that followed.
Virtues and hope:
- There are several ethical concerns raised by whole neonatal genome sequencing.
- Issues like disclosure and handling of incidental and secondary discoveries generate worries about privacy and the psychological impact on families.
- The equitable distribution of the advantages and disadvantages associated with utilising and gaining access to this technology also raises questions of justice and fairness.
Moving forward:
- The enormous potential of rapid newborn whole-genome sequencing has led us to a crossroads of hope and reflection.
- There is little doubt that this technology will give clinicians the instruments they need to find rare genetic anomalies, forecast illness risk, and give them the information they need to deliver better therapies and shape a healthier future.
- However, due to the delicate balance between benefits and risks, we must continue with caution.
