TY - JOUR
T1 - Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
AU - Monroe, Glen R.
AU - Frederix, Gerardus W.
AU - Savelberg, Sanne M C
AU - De Vries, Tamar I.
AU - Duran, Karen J.
AU - Van Der Smagt, Jasper J.
AU - Terhal, Paulien A.
AU - Van Hasselt, Peter M.
AU - Kroes, Hester Y.
AU - Verhoeven-Duif, Nanda M.
AU - Nijman, Isaäc J.
AU - Carbo, Ellen C.
AU - Van Gassen, Koen L.
AU - Knoers, Nine V.
AU - Hövels, Anke M.
AU - Van Haelst, Mieke M.
AU - Visser, Gepke
AU - Van Haaften, Gijs
PY - 2016/9/1
Y1 - 2016/9/1
N2 - PURPOSE: This study investigated whole-exome sequencing (WES) yield in a subset of intellectually disabled patients referred to our clinical diagnostic center and calculated the total costs of these patients' diagnostic trajectory in order to evaluate early WES implementation.METHODS: We compared 17 patients' trio-WES yield with the retrospective costs of diagnostic procedures by comprehensively examining patient records and collecting resource use information for each patient, beginning with patient admittance and concluding with WES initiation. We calculated cost savings using scenario analyses to evaluate the costs replaced by WES when used as a first diagnostic tool.RESULTS: WES resulted in diagnostically useful outcomes in 29.4% of patients. The entire traditional diagnostic trajectory average cost was $16,409 per patient, substantially higher than the $3,972 trio-WES cost. WES resulted in average cost savings of $3,547 for genetic and metabolic investigations in diagnosed patients and $1,727 for genetic investigations in undiagnosed patients.CONCLUSION: The increased causal variant detection yield by WES and the relatively high costs of the entire traditional diagnostic trajectory suggest that early implementation of WES is a relevant and cost-efficient option in patient diagnostics. This information is crucial for centers considering implementation of WES and serves as input for future value-based research into diagnostics.
AB - PURPOSE: This study investigated whole-exome sequencing (WES) yield in a subset of intellectually disabled patients referred to our clinical diagnostic center and calculated the total costs of these patients' diagnostic trajectory in order to evaluate early WES implementation.METHODS: We compared 17 patients' trio-WES yield with the retrospective costs of diagnostic procedures by comprehensively examining patient records and collecting resource use information for each patient, beginning with patient admittance and concluding with WES initiation. We calculated cost savings using scenario analyses to evaluate the costs replaced by WES when used as a first diagnostic tool.RESULTS: WES resulted in diagnostically useful outcomes in 29.4% of patients. The entire traditional diagnostic trajectory average cost was $16,409 per patient, substantially higher than the $3,972 trio-WES cost. WES resulted in average cost savings of $3,547 for genetic and metabolic investigations in diagnosed patients and $1,727 for genetic investigations in undiagnosed patients.CONCLUSION: The increased causal variant detection yield by WES and the relatively high costs of the entire traditional diagnostic trajectory suggest that early implementation of WES is a relevant and cost-efficient option in patient diagnostics. This information is crucial for centers considering implementation of WES and serves as input for future value-based research into diagnostics.
KW - clinical management
KW - cost analysis
KW - intellectual disability
KW - whole-exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=84985041034&partnerID=8YFLogxK
U2 - 10.1038/gim.2015.200
DO - 10.1038/gim.2015.200
M3 - Article
C2 - 26845106
SN - 1098-3600
VL - 18
SP - 949
EP - 956
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 9
ER -