TY - JOUR
T1 - Nationwide implementation and evaluation of the Tumor-First workflow for genetic testing in ovarian carcinoma
AU - Witjes, Vera M.
AU - de Hullu, Joanne A.
AU - Hermkens, Dorien M. A.
AU - Smolders, Yvonne H. C. M.
AU - Swillens, Julie E. M.
AU - Slob, Sarah-Lotte
AU - Bosse, Tjalling
AU - Mourits, Marian J. E.
AU - Ausems, Margreet G. E. M.
AU - Ligtenberg, Marjolijn J. L.
AU - Hoogerbrugge, Nicoline
AU - Tumor-First Implementation Group
AU - Cillessen, Saskia A. G. M.
AU - Gille, Johan J. P.
AU - Komdeur, Fenne L.
AU - Mom, Constantijne H.
AU - Snijders, Malou L. H.
AU - Collée, J. Margriet
AU - Dubbink, Hendrikus J.
AU - Groenendijk, Floris H.
AU - Korpershoek, Esther
AU - Roes, Eva Maria
AU - van Asperen, Christi J.
AU - Gaarenstroom, Katja N.
AU - van der Luijt, Rob B.
AU - van der Stoep, Nienke
AU - Steeghs, Elisabeth M. P.
AU - Blok, Marinus J.
AU - Kooreman, Loes F. S.
AU - Leter, Edward M.
AU - Slangen, Brigitte F. M.
AU - Speel, Ernst Jan M.
AU - van Boven, Hester
AU - van Driel, Willemien J.
AU - Hogervorst, Frans B. L.
AU - van der Kolk, Lizet E.
AU - Rosenberg, Efraim H.
AU - Bart, Joost
AU - Berger, Lieke P. V.
AU - ter Elst, Arja
AU - van der Hout, Annemarie H.
AU - Yigit, Refika
AU - Jansen, Anne M. L.
AU - Koole, Wouter
AU - Krol-Veraar, Johanna
AU - de Leng, Wendy W. J.
AU - Zweemer, Ronald P.
AU - Ligtenberg, Marjolijn J. L.
AU - Mensenkamp, Arjen R.
AU - Schuurs-Hoeijmakers, Janneke H. M.
AU - Simons, Michiel
N1 - Publisher Copyright:
© 2025 The Author(s). International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.
PY - 2025
Y1 - 2025
N2 - Despite international agreement on the importance of tumor DNA testing and germline testing for determining PARP inhibitor treatment eligibility in patients with ovarian carcinoma (OC) and for cancer prevention in their relatives, the optimal strategy remains under debate. In the Netherlands, the “Tumor-First workflow” was initiated and implemented nationwide: a well-validated tumor DNA test is the primary test for detecting tumor pathogenic variants (PVs) in OC risk genes (BRCA1/2, RAD51C/D, BRIP1, PALB2). The detection of tumor PVs is subsequently used to stratify germline testing and determine treatment eligibility. The Tumor-First workflow is efficient and saves costs. The aim of this study was to evaluate the nationwide implementation of the Tumor-First workflow. We analyzed real-time genetic testing practices, including tumor DNA and germline testing, in patients diagnosed with OC from 2019 to 2023, as identified through the Dutch Pathology Registry (Palga). Testing data were collected from diagnostic pathology and genetic reports. Out of the 3926 OC patients, 2778 (71%) received OC tumor DNA testing as the primary test. Between 2019 and 2023, this percentage increased from 50% to 85%. Of these tumor DNA tests, 2703 (97%) were successful, with 398 (15%) resulting in the identification of a PV in an OC risk gene. Most of these patients (291; 73%) underwent germline testing, and 147 (51%) were found to have a germline PV. We conclude that the nationwide implementation of the Tumor-First workflow for OC was effective. Multidisciplinary efforts contributed to a more efficient detection of germline and somatic PVs in OC risk genes.
AB - Despite international agreement on the importance of tumor DNA testing and germline testing for determining PARP inhibitor treatment eligibility in patients with ovarian carcinoma (OC) and for cancer prevention in their relatives, the optimal strategy remains under debate. In the Netherlands, the “Tumor-First workflow” was initiated and implemented nationwide: a well-validated tumor DNA test is the primary test for detecting tumor pathogenic variants (PVs) in OC risk genes (BRCA1/2, RAD51C/D, BRIP1, PALB2). The detection of tumor PVs is subsequently used to stratify germline testing and determine treatment eligibility. The Tumor-First workflow is efficient and saves costs. The aim of this study was to evaluate the nationwide implementation of the Tumor-First workflow. We analyzed real-time genetic testing practices, including tumor DNA and germline testing, in patients diagnosed with OC from 2019 to 2023, as identified through the Dutch Pathology Registry (Palga). Testing data were collected from diagnostic pathology and genetic reports. Out of the 3926 OC patients, 2778 (71%) received OC tumor DNA testing as the primary test. Between 2019 and 2023, this percentage increased from 50% to 85%. Of these tumor DNA tests, 2703 (97%) were successful, with 398 (15%) resulting in the identification of a PV in an OC risk gene. Most of these patients (291; 73%) underwent germline testing, and 147 (51%) were found to have a germline PV. We conclude that the nationwide implementation of the Tumor-First workflow for OC was effective. Multidisciplinary efforts contributed to a more efficient detection of germline and somatic PVs in OC risk genes.
KW - BRCA
KW - epithelial ovarian cancer
KW - implementation
KW - neoplasm DNA
KW - workflow
UR - http://www.scopus.com/inward/record.url?scp=105005414426&partnerID=8YFLogxK
U2 - 10.1002/ijc.35440
DO - 10.1002/ijc.35440
M3 - Article
C2 - 40240123
SN - 0020-7136
VL - 157
SP - 504
EP - 512
JO - International Journal of Cancer
JF - International Journal of Cancer
IS - 3
ER -
