Am J Med Genet C Semin Med Genet. 2024 Aug 31:e32109. doi: 10.1002/ajmg.c.32109. Online ahead of print.
ABSTRACT
This piece narrates the journey of Maria (name of the mother has been altered to protect the family’s privacy), a new mother confronting her newborn’s unexpected diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, despite undergoing proactive genetic carrier screening within a consanguineous marriage. It highlights the emotional and systemic challenges arising from the lack of diversity in genetic databases, which, in this case, failed to detect pathogenic variants in Maria and her husband. Maria’s story sheds light on situations where a masked variant of uncertain significance (VUS) necessitates consultation with a trained genetics specialist and underscores the urgent need for a more equitable healthcare system.
PMID:39215591 | DOI:10.1002/ajmg.c.32109
