Newborn Screening: Is the Technology Advancing Ahead of the Science and Ethics?????

In 1963, Guthrie and Susi introduced a bacterial inhibition assay to detect phenylalanine, marking a significant step in the diagnosis of phenylketonuria in newborns.

It soon became the go-to method for screening other inborn errors of metabolism like maple syrup urine disease and homocystinuria.

Over the following years, other methods were employed, including enzyme activity assay to screen for galactosemia, biotinidase deficiency, and radioimmunoassay to screen for congenital hypothyroidism and congenital adrenal hyperplasia.

The bacterial inhibition assay was abandoned in the 1980s with the development of the fluorimetric assay.??

Then, in the 1990s, a game-changer emerged – tandem mass spectroscopy. This technology rocked the world of newborn screening.??

Why?

Because it lets us measure multiple analytes all at once in a single bloodspot.??

The result?

Lower costs, quicker results, and an expansion of newborn screening programs as we know them today in many countries.??

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The Impact of Genomic Sequencing in NBS

Genomic sequencing technologies have opened up exciting possibilities for expanding screening programs. They can diagnose most of the 6,000+ disorders listed in the Online Mendelian Inheritance in Man database, which is a long-standing catalog of Mendelian principles, traits, and disorders.

In the US, the inpatient costs for healthcare services related to these rare diseases reached a staggering estimated total of $768 billion in 2016.??

Why then do we not screen the whole genome of all newborns, given the wealth of information and potential benefits it could provide???

A step into the unknown?

Many genetic diseases are untreatable, and the health consequences of a lot of mutations are unknown, caution ought to be exercised before widely implementing genomic screening, noting evidence to date “does not support genome-wide sequencing of all babies at birth.”

Concerns have risen in part because although a patient may have a certain gene or gene mutation, this doesn’t guarantee they will develop the disease.

Because genome sequencing can test for thousands of conditions, some members of the public worry having access to all potential health risks (even if they don’t occur) would be detrimental.

Next steps

The UK is set to begin sequencing the genomes of 100,000 newborn babies later this year. It will be the largest study of its kind, mapping the babies’ complete set of genetic instructions, with potentially profound implications for child medicine.

The?￡105 million?($126 million) Newborn Genomes Programme will screen for around 200 rare but treatable genetic conditions, with the aim of curtailing untold pain and anxiety for babies and their families, who sometimes struggle to receive a diagnosis through conventional testing. By accelerating the diagnostic process, earlier treatment of infants could prevent many severe conditions from ever developing.

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