Significance of variants of uncertain significance: The human cost of genetic uncertainty Editorial
| Author: | Gonullu-Rotman, D. |
| Title: | Significance of variants of uncertain significance: The human cost of genetic uncertainty |
| 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. © 2024 Wiley Periodicals LLC. |
| Keywords: | genetics; genetic variability; genetic variation; economics; consanguinity; patient care; infant, newborn; newborn; genetic screening; ethnicity; newborn screening; health care access; genetic testing; heterozygote detection; genetic counseling; race; genetic database; health care disparity; parenthood; uncertainty; healthcare disparities; procedures; maternal attitude; variant of uncertain significance; humans; human; female; article; variants of uncertain significance; narrative medicine; genetic carrier screening; long-chain acyl-coa dehydrogenase deficiency |
| Journal Title: | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics |
| Volume: | 196 |
| Issue: | 2-3 |
| ISSN: | 1552-4868 |
| Publisher: | Wiley Blackwell |
| Date Published: | 2024-11-01 |
| Start Page: | e32109 |
| Language: | English |
| DOI: | 10.1002/ajmg.c.32109 |
| PUBMED: | 39215591 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Source: Scopus |
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