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Access to molecular diagnostics for CNS tumors through international outsourcing: experience from Jordan
Ruba Al Abweh1, Sarah Al Sharie2, Nabil Hasasna1
1Department of Cell Therapy and Applied Genomics. King Hussein Cancer Center, Amman, Jordan.
Background:
Molecular profiling is now integral to the diagnosis, risk stratification, and treatment of central nervous system (CNS) tumors following the 2021 WHO Classification (WHO CNS5). However, access to molecular diagnostics remains severely limited in settings with limited resources. International outsourcing to accredited reference laboratories represents a potential bridging strategy, yet systematic data on its feasibility and clinical impact in the LMICs are lacking.
Methods:
We conducted a retrospective review of CNS tumor cases at King Hussein Cancer Center (KHCC), Amman, Jordan, that underwent outsourced molecular testing at the Hospital for Sick Children in Toronto, Canada, between 2021 and 2023. Four test types were ordered: medulloblastoma subgrouping by NanoString nCounter-based gene expression profiling, TruSight pan-cancer RNA sequencing, low-grade fusion gene analysis, and C19MC fluorescence in situ hybridization (FISH). For each case, we recorded turnaround time (TAT), cost, conclusive result rate, impact on diagnosis, and identification of actionable therapeutic targets.
Results:
A total of 105 patients underwent outsourced molecular tumor testing (87% pediatric; median age 10 years; 54% male). Tumor types included medulloblastoma (52%), low-grade glioma (LGG, 30%), high-grade glioma (HGG, 12%), and others (6%). Of the 119 samples that reached the reference laboratory, 109 (92%) yielded a conclusive molecular result, with the highest rate in medulloblastoma (94%) and the lowest in ependymoma (33%). The median overall TAT was 26 days (range 13-140 days), and the total expenditure was 153,506 US Dollars. Molecular testing led to a change in diagnosis in 4 cases (4%): 3 major changes (reclassification of BCOR sarcoma to solitary fibrous tumor, ependymoma to pilocytic astrocytoma, and pediatric-type diffuse low-grade glioma with COL1A1::PDGFB fusion) and 1 minor change. In one additional case, a discordant molecular result (NRAS-mutant low-grade glioma) did not alter the final morphological diagnosis of high-grade glioma. Actionable targets (predominantly BRAF alterations) were identified in 28 tumors (27%), including 65% of LGGs and 54% of HGGs.
Conclusion:
International outsourcing of molecular diagnostics is a feasible and clinically impactful strategy for CNS tumor management at limited-resource settings, enabling WHO CNS5-integrated diagnoses and access to precision therapy. The TAT and cost per tumor sample are relatively acceptable given the benefits of a more accurate diagnosis and the possibility of finding a targetable alteration. Permanent solutions would require investment in regional molecular diagnostic infrastructure through in-house capacity building, laboratory networks, and international twinning programs.
Insights
International outsourcing of molecular diagnostics offers a feasible and impactful strategy for central nervous system (CNS) tumor management in resource-limited settings. This approach aids in WHO CNS5-integrated diagnoses and precision therapy access, despite challenges in turnaround time and cost.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genomics
Background:
- Molecular profiling is crucial for diagnosing, stratifying risk, and treating central nervous system (CNS) tumors per the 2021 WHO Classification (WHO CNS5).
- Access to molecular diagnostics is severely limited in low- and middle-income countries (LMICs).
- International outsourcing is a potential strategy to bridge this diagnostic gap in LMICs, but data on its feasibility and impact are lacking.
Purpose of the Study:
- To evaluate the feasibility and clinical impact of international outsourcing for molecular testing of CNS tumors in a limited-resource setting.
- To assess turnaround time (TAT), cost, conclusive result rates, and the impact on diagnosis and treatment of outsourced molecular tests for CNS tumors.
Main Methods:
- Retrospective review of 105 CNS tumor cases from King Hussein Cancer Center (KHCC), Jordan, undergoing outsourced molecular testing in Toronto, Canada (2021-2023).
- Four types of molecular tests were performed: medulloblastoma subgrouping, pan-cancer RNA sequencing, low-grade glioma fusion gene analysis, and C19MC FISH.
- Data collected included TAT, cost, conclusive result rate, diagnostic impact, and identification of actionable therapeutic targets.
Main Results:
- Of 119 samples tested, 109 (92%) yielded conclusive molecular results, with high rates for medulloblastoma (94%) and lower rates for ependymoma (33%).
- The median overall TAT was 26 days, with a total expenditure of $153,506 USD.
- Molecular testing led to diagnostic changes in 4% of cases and identified actionable targets (e.g., BRAF alterations) in 27% of tumors, including 65% of low-grade gliomas.
Conclusions:
- International outsourcing of molecular diagnostics is a feasible and clinically valuable strategy for CNS tumor management in resource-limited settings.
- The TAT and cost are acceptable given the benefits of improved diagnostic accuracy and identification of potential therapeutic targets.
- Long-term solutions require investment in regional molecular diagnostic infrastructure, capacity building, and international collaborations.
