Whole-Genomic Sequencing Increases Molecular Diagnostic Yield

Genomic sequencing has higher yield than targeted gene sequencing for infants suspected of having genetic disorders
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Medically Reviewed By:
Mark Arredondo, M.D.

FRIDAY, July 14, 2023 (HealthDay News) -- Genomic sequencing has a higher molecular diagnostic yield than targeted neonatal gene sequencing for infants suspected of having a genetic disorder, according to a study published in the July 11 issue of the Journal of the American Medical Association.

Jill L. Maron, M.D., M.P.H., from the Women and Infants Hospital of Rhode Island in Providence, and colleagues compared outcomes of genomic sequencing to those of a targeted neonatal gene-sequencing test among 400 hospitalized infants younger than 1 year of age (and their parents) suspected of having a genetic disorder.

Overall, 51 percent of the participants had a molecular diagnostic variant (297 variants were identified, including 134 novel variants). The researchers found that the molecular diagnostic yield of genomic sequencing was 49 percent compared with 27 percent with the targeted gene-sequencing test. Nineteen variants found by the targeted neonatal gene-sequencing test were not reported in genomic sequencing; 164 variants identified by genomic sequencing as diagnostic were not reported by the targeted gene-sequencing test. The median time to return of results was 6.1 and 4.2 days for genomic sequencing and targeted genomic sequencing, respectively; for urgent cases, the time was 3.3 and 4.0 days, respectively. Overall, 19 percent of participants had changes in clinical care, and 76 percent of clinicians viewed genomic testing as useful or very useful for clinical decision-making.

"Genome sequencing can be costly, but in this targeted, at-risk population, it proves to be highly informative," Maron said in a statement. "We are supportive of ongoing efforts to see these tests covered by insurance."

Several authors disclosed ties to the biopharmaceutical industry.

Abstract/Full Text (subscription or payment may be required)

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