Implementation of Universal Pan-Cancer Germline Genetic Testing in an Arab Population: The Jordanian Exploratory Cancer Genetics Study

JCO Glob Oncol. 2024 Jun:10:e2400068. doi: 10.1200/GO.24.00068.

Abstract

Purpose: Germline genetic testing (GGT) significantly affects cancer care. While universal testing has been studied in Western societies, less is known about adoption elsewhere.

Materials and methods: In this study, 3,319 unselected, pan-cancer Jordanian patients diagnosed between April 2021 and September 2022 received GGT. Pathogenic germline variant (PGV) frequency among patients who were in-criteria (IC) or out-of-criteria (OOC; 2020 National Comprehensive Cancer Network criteria) and changes in clinical management in response to GGT results were evaluated. Statistical analysis was performed using two-tailed Fisher's exact test with significance level P < .05.

Results: The cohort was predominantly female (69.9%), with a mean age of 53.7 years at testing, and 53.1% were IC. While patients who were IC were more likely than patients who were OOC to have a PGV (15.8% v 9.6%; P < .0001), 149 (34.8%) patients with PGVs were OOC. Clinical management recommendations in response to GGT, including changes to treatment and/or follow-up, were made for 57.3% (161 of 281) of patients with high- or moderate-risk PGVs, including 26.1% (42 of 161) of patients who were OOC.

Conclusion: Universal GGT of patients with newly diagnosed cancer was successfully implemented in Jordan and led to identification of actionable PGVs that would have been missed with guidelines-based testing.

MeSH terms

  • Adult
  • Aged
  • Arabs* / genetics
  • Arabs* / statistics & numerical data
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing* / methods
  • Germ-Line Mutation*
  • Humans
  • Jordan / epidemiology
  • Male
  • Middle Aged
  • Neoplasms* / diagnosis
  • Neoplasms* / genetics
  • Young Adult