Drawing on her experience as rare disease patient advocacy group SYNGAP1 Foundation’s founder and former president, Monica Weldon argues for the need to standardize genomic testing practices, warns against the possible ethical implications of individualized medicine, and makes a cause for a more holistic approach within rare disease communities.

The Promising Pathways Act 2.0 is a newly proposed bill that aims to expedite and streamline approval pathways for rare disease therapies in the US. The Act is, however, facing a number of challenges in terms of implementation. The sponsors of these niche therapies tend to be small and medium-sized biotech firms which are unable to compete with the financial might of Big Pharma and also struggle to deal with the myriad regulatory hurdles they need to jump over. Monica Weldon, a frequent PharmaBoardroom contributor and rare disease patient advocate, who helped craft the bill, explains more.