Newborn genome-sequencing unlocks the blueprint of health

This article is part of a fortnightly column exploring contemporary concepts and issues in genetics.

Imagine a situation where a severely ill newborn is in the ICU and a fast, effective diagnosis could enable effective treatment – a scenario that plays out practically in every neonatal ICU on a regular basis. The situation is complicated when the disease affecting the baby is not common and known to many clinicians, and could be buried in medical textbooks or databases.

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.