TY - JOUR
T1 - ‘Whole exome sequencing’ en ‘whole genome sequencing’ bij ziekte zonder diagnose
AU - Linthorst, Gabor E.
AU - Hollak, Carla E. M.
PY - 2019
Y1 - 2019
N2 - Whole exome sequencing and whole genome sequencing in undiagnosed disease: of value for certain patient populations Whole exome sequencing and whole genome sequencing (WES/WGS) as a diagnostic tool has become more readily available. A recent study on the diagnostic yield in a highly selected patient population with undiagnosed disease has demonstrated the power of a stringent diagnostic process that includes WES/WGS. Up to one third of patients received a diagnosis, following critical clinical review of tests performed previously, additional targeted biochemical or genetic diagnostic tests and/or the application of WES/WGS. In more than 60% of the resolved cases, WES or WGS played a crucial role. The success of the Undiagnosed Disease Network relies strongly on patient selection, review of clinical symptoms and medical records by a team of specialists, and close collaboration with basic scientists and laboratories to study the clinical impact of possible genetic variations and mutations that are discovered through WES/WGS. Although the results are impressive, it remains to be determined whether such a dedicated approach is feasible in a non-research setting.
AB - Whole exome sequencing and whole genome sequencing in undiagnosed disease: of value for certain patient populations Whole exome sequencing and whole genome sequencing (WES/WGS) as a diagnostic tool has become more readily available. A recent study on the diagnostic yield in a highly selected patient population with undiagnosed disease has demonstrated the power of a stringent diagnostic process that includes WES/WGS. Up to one third of patients received a diagnosis, following critical clinical review of tests performed previously, additional targeted biochemical or genetic diagnostic tests and/or the application of WES/WGS. In more than 60% of the resolved cases, WES or WGS played a crucial role. The success of the Undiagnosed Disease Network relies strongly on patient selection, review of clinical symptoms and medical records by a team of specialists, and close collaboration with basic scientists and laboratories to study the clinical impact of possible genetic variations and mutations that are discovered through WES/WGS. Although the results are impressive, it remains to be determined whether such a dedicated approach is feasible in a non-research setting.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066469883&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/31120221
M3 - Article
C2 - 31120221
SN - 0028-2162
VL - 163
JO - Nederlands Tijdschrift voor Geneeskunde
JF - Nederlands Tijdschrift voor Geneeskunde
ER -