Schematic of DNA double helix
Biotechnology, Genetics

When it comes to the rarest of diseases, the diagnosis isn’t the answer – it’s just the starting point

Major advances in the precision and speed of gene sequencing technology followed by dramatic reductions in the costs of testing – have radically changed how medical genetics clinics function. But while sequencing can provide confirmation of a suspected, well-understood condition, it frequently results in a situation like that faced by the Smiths, where the testing result shows an incredibly rare disorder with little known about it.