I've posted here previously on the positive impact newborn genomic screening will have on rare disease diagnosis rates. There are many pilot programs currently in progress globally, so it is a matter of when, not if, universal newborn genomic screening will be widely implemented.
In many ways, the UK has led the charge driving Whole Genome Sequencing (WGS) into mainstream healthcare through Genomics England, and they now have a newborn screening pilot program (the Generation Study).
These projects are carrying out much of the essential foundational work, such as health economics and addressing the myriad ELSI (Ethical, Legal, & Social Issues), that is necessary to enable funding and implementation.
So how does all this drive the market for rare disease drugs?
Well, many rare diseases are genetic disorders. For example, Rett and Phelan-McDermid Syndromes are caused by alterations to the MECP2 and SHANK3 genes, respectively (with mutations in these genes being inclusion criteria for clinical trials). Currently, many of these diseases are underdiagnosed because of equity of access issues or variable clinical presentation resulting in a years-long diagnostic odyssey which may or may not resolve in an accurate diagnosis.
With the advent of newborn genomic screening, in principle every child born with an alteration in one of these genes will be identified at birth, significantly increasing diagnostic rates and allowing children to be moved on to drug at the therapeutically optimal time.
This is all part of a seismic shift that is occurring healthcare known as precision medicine.
NEU Price at posting:
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