Analiza trenda napotovanja na onkološko genetsko obravnavo pri bolnicah z rakom jajčnikov, ki potrebujejo genetski izvid za načrtovanje zdravljenja in predstavitev novih kliničnih poti obravnave
Analysis of the referral trend in ovarian cancer patients who need genetic assessment for treatment planning and presentation of new clinical pathways

Authors

  • Svetlana Novak Institute of Oncology Ljubljana
  • Simona Hotujec Institute of Oncology Ljubljana
  • Ksenija Strojnik Institute of Oncology Ljubljana
  • Ana Blatnik Institute of Oncology Ljubljana
  • Erik Škof Institute of Oncology Ljubljana
  • Maja Ravnik University Medical Centre Maribor
  • Srdjan Novaković Institute of Oncology Ljubljana
  • Mateja Krajc Institute of Oncology Ljubljana

DOI:

https://doi.org/10.25670/oi2021-012on

Keywords:

epithelial non-mucinous ovarian cancer, primary peritoneal serous carcinoma / PPSC, priority referral, genetic testing, BRCA1/2, epithelial non-mucinous fallopian tube cancer

Abstract

Izhodišče: Zadnjih nekaj let se v genetskih ambulantah soočamo s pogostejšimi napotitvami bolnikov z rakom na genetsko obravnavo. Izvid genetskega testiranja je namreč pri bolnicah z epitelijskim nemucinoznim rakom jajčnikov/jajcevodov/primarnim peritonealnim seroznim karcinomom (PPSC) in bolnikih z metastatskim rakom prostate/pankreasa/dojk lahko zelo pomemben za načrtovanje zdravljenja z zaviralci poli(ADP-riboza)-polimeraze (PARP). Ker se z obravnavo običajno mudi, smo izdelali dve klinični poti, ki omogočita tem bolnikom prednostno obravnavo.
Namen: Namen raziskave je bil ugotoviti, ali se število prednostnih napotitev pri bolnikih z rakom, ki potrebujejo genetski izvid za načrtovanje zdravljenja, s časom spreminja. Na primeru raka jajčnikov smo želeli oceniti stopnjo odkrivanja patogenih različic/verjetno patogenih različic (PR/VPR) v pregledovanih genih in raziskati razlike med nosilkami genetskih okvar in tistimi, ki zarodnih PR/VPR nimajo.
Metode: Na Oddelku za onkološko klinično genetiko na Onkološkem inštitutu Ljubljana (OIL) smo opravili analizo podatkov o številu vseh prednostnih napotitev na genetsko svetovanje in testiranje od leta 2016 do leta 2020. Analizirali smo tudi podatke vseh napotenih bolnic z epitelijskim nemucinoznim rakom jajčnikov/jajcevodov/PPSC, ki so bile testirane med letoma 2016 in 2020. Za analizo podatkov smo uporabili program MS Excel, Joinpoint Regression in IBM SPSS.
Rezultati: Raziskava je pokazala, da število prednostnih napotitev bolnikov, ki potrebujejo genetski izvid za načrtovanje zdravljenja, z leti narašča. Napotitve bolnic z epitelijskim nemucinoznim rakom jajčnikov/jajcevodov/PPSC so začele naraščati marca 2019 s trendom 7,7-odstotnega letnega prirastka. Od vseh 772 bolnic z epitelijskim nemucinoznim rakom jajčnikov/jajcevodov/PPSC, napotenih med letoma 2016 in 2020, smo testirali 735 žensk in pri 206 (28 %) odkrili PR/VPR v panelu pregledovanih genov. Stopnja detekcije PR/VPR, gledano le za gena BRCA1/2, je 23-odstotna. Med vsemi diagnosticiranimi PR/VPR predstavljajo okvare na genih BRCA1/2 83 % vseh najdb. Ženske, ki so nosilke PR/VPR, v povprečju zbolijo v starosti 56,4 leta in zbolijo povprečno 4,4 leta prej kot nenosilke (p < 0,001). V preteklosti, torej pred uvedbo testiranja za zdravljenje, 26,5 % nosilk z negativno družinsko anamnezo ne bi zaznali, saj so smernice testiranje priporočale le pri bolnicah s pozitivno družinsko anamnezo.
Zaključek: Pričujoča analiza potrjuje pomen prednostnega genetskega presejanja bolnikov, ki potrebujejo izvid za načrtovanje zdravljenja. Nove klinične poti, ki jih opisujemo v članku, omogočajo hitro in kakovostno obravnavo ter pravočasno in strokovno predajo rezultatov. Prav tako pri bolnikih z rakom omogočajo informirano odločanje o genetskem testiranju in soodločanje o preventivnih ukrepih pri njihovih krvnih sorodnikih.


Abstract (Eng)

Introduction: In the last few years, genetic services have faced increased referral rates of cancer patients for genetic counselling. The results of genetic testing in patients with epithelial non-mucinous ovarian / fallopian tube cancer / primary peritoneal serous carcinoma (PPSC) and in patients with metastatic prostate / pancreatic / breast cancer can be very important for planning treatment with poly adenosine diphosphate-ribose polymerase (PARP) inhibitors. Because time is of the essence in such cases, we have developed two clinical pathways that allow these patients to receive priority treatment.
Aim of study: The aim of the study was to determine whether the number of priority referrals for cancer patients who need a genetic test for treatment purposes has changed over time. For ovarian cancer patients, we wanted to assess the detection rate of pathogenic variants / likely pathogenic variants (PV/LPV) in genes, that were analysed and to investigate the differences between carriers of genetic defects and those who do not have germline PV/LPVs.
Methods: At the Department of Oncological Clinical Genetics at the Institute of Oncology Ljubljana (OIL), we analysed data on the number of all priority referrals for genetic counselling and testing from 2016 to 2020. We also analysed medical data of all referred patients with epithelial non-mucinous ovarian / fallopian tube / PPSC cancer, who were tested between 2016 and 2020. We used MS Excel, Joinpoint Regression and IBM SPSS programmes.
Results: Our study showed that the number of priority referrals of patients, who need genetic testing for treatment planning is increasing over the years. The number of priority referrals of patients with epithelial non-mucinous ovarian / fallopian tube / PPSC cancer began to increase in March 2019 with a trend of 7.7% annual growth. Of all 772 patients with epithelial non-mucinous ovarian / fallopian tube / PPSC cancer referred between 2016 and 2020, 735 women were tested and a PV/LPV was detected using a gene panel in 206 (28%). The PV/LPV detection rate for BRCA1/2 genes was 23%. Of all diagnosed PV/LPV, those in BRCA1/2 genes account for 83%. Women, who are carriers of PV/LPV developed cancer at the average age of 56. 4, which is 4.4 years earlier than non-carriers (p < 0.001). 26.5% of patients with a negative family history would not have been detected in the past, before the introduction of testing for treatment purposes, as the guidelines recommended testing only in patients with a positive family history.
Conclusion: The present analysis confirms the importance of priority genetic screening of patients who need a genetic test result for treatment planning. The new clinical pathways described in the article enable fast and high-quality assessment and timely and professional delivery of results. They also enable informed decision-making on genetic testing in cancer patients and co-decision-making on preventive measures in their blood relatives.

Published

2021-11-30

How to Cite

Novak, S., Hotujec, S., Strojnik, K., Blatnik, A., Škof, E., Ravnik, M., Novaković, S., & Krajc, M. (2021). Analysis of the referral trend in ovarian cancer patients who need genetic assessment for treatment planning and presentation of new clinical pathways. Onkologija : A Medical-Scientific Journal, 25(2), 6–14. https://doi.org/10.25670/oi2021-012on

Issue

Section

Original Scientific Article