Genome sequencing as a first-line diagnostic test for hospitalized infants.
Genet Med
; 24(4): 851-861, 2022 04.
Article
in En
| MEDLINE
| ID: mdl-34930662
ABSTRACT
PURPOSE:
SouthSeq is a translational research study that undertook genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas in the Southeastern United States, which are historically underrepresented in genomic medicine research.METHODS:
GS and analysis were performed for 367 infants to detect disease-causal variation concurrent with standard of care evaluation and testing.RESULTS:
Definitive diagnostic (DD) or likely diagnostic (LD) genetic findings were identified in 30% of infants, and 14% of infants harbored an uncertain result. Only 43% of DD/LD findings were identified via concurrent clinical genetic testing, suggesting that GS testing is better for obtaining early genetic diagnosis. We also identified phenotypes that correlate with the likelihood of receiving a DD/LD finding, such as craniofacial, ophthalmologic, auditory, skin, and hair abnormalities. We did not observe any differences in diagnostic rates between racial/ethnic groups.CONCLUSION:
We describe one of the largest-to-date GS cohorts of ill infants, enriched for African American and rural patients. Our results show the utility of GS because it provides early-in-life detection of clinically relevant genetic variations not detected by current clinical genetic testing, particularly for infants exhibiting certain phenotypic features.Key words
Full text:
1
Database:
MEDLINE
Main subject:
Genetic Testing
/
Diagnostic Tests, Routine
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
Genet Med
Journal subject:
GENETICA MEDICA
Year:
2022
Type:
Article
Affiliation country:
Albania