Newborn screening: should whole genome sequencing be introduced?

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Whole genome sequencing is becoming more popular in medical research. With its falling cost and increasing reliability, some scientists hail the process as being the future of genetic research. But should whole genome sequencing be used as a part of newborn screening programs? This is a question that researchers from McGill University in Canada say should be addressed.

The human genome is made up of over 3 billion genetic letters - A, C, G, and T. These are known as DNA nucleotides and represent pieces of DNA called adenine, cytosine, guanine and thymine. Whole genome sequencing (WGS) involves using advanced technology to determine the order of these nucleotides within the genome.

As well as enabling quicker and simpler gene discovery, scientists say that WGS may reveal previously unknown genes that contribute to diseases and that the process could lead to personalized treatment methods. Furthermore, WGS could lead to identification of lifestyle and environmental factors that affect genetic predisposition.

As a result of these potential benefits, some scientists say WGS should be offered as part of newborn screening programs.

At present, more than 60 countries have newborn screening programs. These include a blood spot test, which involves taking a few drops of blood from a newborn's heel and testing the blood for genetic, endocrine and metabolic disorders, including sickle cell disease and cystic fibrosis.

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Newborn screening: should whole genome sequencing be introduced?