Enter Note Done


M. L. Thompson1, K. M. Bowling1, D. R. Latner1, C. R. Finnila1, S. Hiatt2, M. Amaral3, K. M. East1, W. V. Kelley1, M. E. Cochran1, V. Greve1, J. M. J. Lawlor1, H. Meddaugh4, A. Luedecke5, K. Jackson6, L. G. Hendon7, H. M. Janani8, M. Johnston4, L. Merin5, S. L. Deans6, H. Williams7, K. Laborde8, M. B. Neu9, J. Patrick-Esteve4, K. B. Brothers6, R. D. Savich7, S. Spedale8, G. S. Barsh1, B. R. Korf10, G. M. Cooper1; 1Hudson Alpha Inst. for Biotechnology, Huntsville, AL, 2601 Genome Way, Huntsville, AL, 3HudsonAlpha Inst. for Biotechnology, Huntsville, AL, 4Children's Hosp. New Orleans, New Orleans, LA, 5Univ. of Alabama at Birmingham, Birmingham, AL, 6Univ. of Louisville, Louisville, KY, 7Univ. of Mississippi Med. Ctr., Jackson, MS, 8Woman's Hosp., Baton Rouge, LA, 9Huntsville, FL, 10Univ Alabama at Birmingham, Birmingham, AL

In SouthSeq, we conducted genome sequencing (GS) as a first-line test for infants with symptoms suggestive of a genetic disorder being cared for in a neonatal intensive care unit (NICU) and other pediatric units. Study recruitment targeted diverse populations representing racial/ethnic minorities and rural medically underserved areas that are historically under-represented in genomic medicine research. Genome sequencing and analysis were performed concurrent with standard clinical care for 367 affected newborns to detect disease-causal genetic variation. Definitive diagnostic (DD) and likely diagnostic (LD) findings were identified in 109 newborns (30%) with an additional 51 (14%) found to harbor an uncertain result. Thirty-nine percent of GS-detected DD/LD findings were identified via standard, concurrent clinical genetic testing, whereas 53.2% were not (7.3% of GS-detected DD/LD findings did not receive any clinical genetic testing), suggesting that GS testing is better for obtaining early genetic diagnosis in newborns. In most cases, GS detected a SNV/indel when only clinical CNV testing was ordered. We also identify phenotypes that correlate with the chances of receiving a DD/LD finding, such as an enrichment for craniofacial, ophthalmologic and auditory abnormalities. We did not observe any differences in diagnostic rates between racial/ethnic minority groups. SouthSeq has provided an early genetic diagnosis and has demonstrated the utility of using GS as a comprehensive first-line genetic test.
Session Type
Molecular and Cytogenetic Diagnostics