How Important is Newborn Genetic Screening?

Embrace a health ecosystem that offers universally available routine newborn genomic screening to ensure that the benefits reach the broadest range of people, minimizing disparities and bringing greater health to all.

Screening for genetic diseases in newborn babies saves lives, and it can also be cost-effective, according to a scientific report in the journal BMJ today.

Genomics England, a government-owned company, recently announced a pilot program of whole-genome sequencing to screen for genetic diseases in 200,000 healthy seeming newborns.

Disorders Included in Newborn Screening
Disorders included in newborn screening in US and India are discussed. Most disorders are either inherited disorders or developmental defects in vital organs such as heart. Early diagnosis and prompt treatment of these are key to overall improved outcome.

‘Genomic sequencing in newborns’ can provide opportunities to make genetic disorder diagnoses more quickly and bring therapies with minimal delay.’

Researchers advise rather than screening newborns for all diseases, a phased rollout can be used. In a phased rollout, the genetic sequence is generated at birth, and over time, variants are disclosed sequentially at appropriate ages to help reduce the burden of genetic disorders.

Such a rollout of genetic information should be guided by oversight bodies, with informed consent and appropriate opt-outs.

It should also reside in a repository linked to his or her medical record, readily accessible to healthcare providers, and available for reanalysis to keep pace with growing knowledge.

Genetic Counselling - Steps GeneticInheritance Risks Conclusion
Encyclopedia section of medindia gives general info about Genetic counseling

To realize the anticipated benefits of routine newborn genome sequencing, progress is needed in several areas including data quality, appropriate information management, and clinical decision support systems.

The call for all healthcare professionals to be extensively trained in genetics is impractical and unnecessary.

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A person’s genetic information is a vast quantity of personal data, and no grounds justify routinely acquiring this from all citizens before they are old enough to have the capacity to provide informed consent.

An only tiny number of genetic conditions require action before an individual can consent to screen, and processes already exist to test newborns for these rare but serious conditions.

Genetic Disorders can be Treated Using Umbilical Cord Blood
Umbilical cord blood is successfully used to treat non-cancerous, genetic disorders. Children with non-cancerous genetic disorders, including sickle cell, thalassemia, metachromatic leukodystrophy (MLD) and an array of immune deficiencies, were safely and effectively treated using this therapy.

At the same time, the most personal data might be misused, noting that some governments are reportedly carrying out a mass collection of DNA, with the potential to use it for repressive practices up to and including forced organ harvesting.

Source-Medindia