Children, Год журнала: 2025, Номер 12(4), С. 429 - 429
Опубликована: Март 28, 2025
The completion of the Human Genome Project in 2003 has led to significant advances patient care medicine, particularly diagnosing and managing genetic diseases cancer. In realm diseases, approximately 15% critically ill infants born U.S.A. are diagnosed with disorders, which comprise a cause mortality neonatal pediatric intensive units. introduction rapid whole-genome sequencing (rWGS) as first-tier test children suspected, undiagnosed is breakthrough diagnosis subsequent clinical management such older Rapid genome currently being used clinically USA, UK, Netherlands, Sweden, Australia, among other countries. This review intended for students practitioners, including non-experts genetics, whom it provides historical background chronological relevant published literature progression diagnostic genomic leading development rWGS suspected but diseases. Factors that will help develop limitations briefly discussed, an evaluation utility accessibility testing, education parents providers, cost-effectiveness, ethical challenges, consent issues, secondary findings, data privacy concerns, false-positive false-negative results, challenges variant interpretation, costs reimbursement, limited availability counselors, evidence-based guidelines, would all need be addressed facilitate implementation effective widespread manner era precision medicine.
Язык: Английский