Genetic Carrier Screening—Call for a Global Mission

(N Engl J Med. 391;20. doi:10.1056/NEJMe2410086) The unexpected diagnosis of a severe genetic condition in a child often reveals to parents their risk of passing the condition on to future children. This was the experience of Rachael and Jonathan Casella, whose daughter Mackenzie was diagnosed with spinal muscular atrophy and died at 7 months. This tragic event motivated the couple to advocate for widespread carrier screening, which could help parents make informed reproductive choices before or during pregnancy. In response to their efforts, the Australian Government launched Mackenzie’s Mission, a nationwide genetic carrier screening project, with a funding of $20 million AUD.