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Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
- Source :
- European Journal of Medical Genetics, European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. 〈http://www.sciencedirect.com/science/article/pii/S1769721217301957?via%3Dihub〉. 〈10.1016/j.ejmg.2017.08.011〉, European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. ⟨10.1016/j.ejmg.2017.08.011⟩
- Publication Year :
- 2017
- Publisher :
- HAL CCSD, 2017.
-
Abstract
- IF 2.137; International audience; BACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is essential to reduce the diagnostic turnaround time to make WES a first-line procedure. Since 2011, the automation of laboratory procedures and advances in sequencing chemistry have made it possible to carry out diagnostic whole genome sequencing from the blood sample to molecular diagnosis of suspected genetic disorders within 50 h. Taking advantage of these advances, the main objective of the study was to improve turnaround times for sequencing results.METHODS:WES was proposed to 29 patients with severe undiagnosed disorders with developmental abnormalities and faced with medical situations requiring rapid diagnosis. Each family gave consent. The extracted DNA was sequenced on a NextSeq500 (Illumina) instrument. Data were analyzed following standard procedures. Variants were interpreted using in-house software. Each rare variant affecting protein sequences with clinical relevance was tested for familial segregation.RESULTS:The diagnostic rate was 45% (13/29), with a mean turnaround time of 40 days from reception of the specimen to delivery of results to the referring physician. Besides permitting genetic counseling, the rapid diagnosis for positive families led to two pre-natal diagnoses and two inclusions in clinical trials.CONCLUSIONS:This pilot study demonstrated the feasibility of rapid diagnostic WES in our primary genetics center. It reduced the diagnostic odyssey and helped provide support to families.Copyright © 2017 Elsevier Masson SAS. All rights reserved.
- Subjects :
- 0301 basic medicine
Adult
Male
Exome sequencing
medicine.medical_specialty
Time Factors
Adolescent
Genetic counseling
Bioinformatics
Turnaround time
Sensitivity and Specificity
Undiagnosed genetic conditions
03 medical and health sciences
Genetics
medicine
Humans
Exome
Genetic Testing
Medical diagnosis
Intensive care medicine
Child
Genetics (clinical)
Genetic testing
Whole genome sequencing
[SDV.GEN]Life Sciences [q-bio]/Genetics
medicine.diagnostic_test
business.industry
Infant, Newborn
Infant
General Medicine
Sequence Analysis, DNA
Diagnostic turnaround time
3. Good health
Clinical trial
030104 developmental biology
Early Diagnosis
Child, Preschool
Female
business
[ SDV.GEN ] Life Sciences [q-bio]/Genetics
Subjects
Details
- Language :
- English
- ISSN :
- 17697212
- Database :
- OpenAIRE
- Journal :
- European Journal of Medical Genetics, European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. 〈http://www.sciencedirect.com/science/article/pii/S1769721217301957?via%3Dihub〉. 〈10.1016/j.ejmg.2017.08.011〉, European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. ⟨10.1016/j.ejmg.2017.08.011⟩
- Accession number :
- edsair.doi.dedup.....125f5ad428afc365a62dc4dbfa3b08ee