Current patterns of next-generation sequencing testing in biliary tract cancer patients in Spain

Biliary tract cancer (BTC), which includes cholangiocarcinoma (CCA) and gallbladder cancer (GBC), presents high levels of molecular heterogeneity and a poor prognosis. Next-generation sequencing (NGS) is crucial for identifying genomic alterations and adequate targeted therapies, but its integration into clinical practice varies by region. This study assesses how NGS is implemented in Spain, focusing on its use, barriers, and clinical impact on managing BTC.

This study was based on a national survey of healthcare professionals involved in the diagnosis and treatment of BTC.

Seventy-six experts participated in the general analysis, and 58 participated in the BTC-specific analysis. Among the respondents, 95% reported access to NGS in oncology practice, and 93% reported its use in BTC. FGFR2 and IDH1/2 were the most frequently requested biomarkers (both 91%), whereas TMB (22%) and expanded panels were less commonly used. Thirty-two of 50 respondents requested NGS in advanced disease (64%), as per the responses to this specific question, which is consistent with current therapeutic indications. Thirty-four of 48 respondents performing NGS (71%) reported access to specialized genetic counseling. The perceived therapeutic impact varied: many estimated that NGS influenced treatment decisions in 20-40% of cases, whereas a subset reported that it influenced treatment decisions in more than 60% of cases.

The adoption of NGS in BTC management in Spain has increased alongside the availability of targeted therapies. The respondents reported broad access to NGS and frequent use of key biomarkers, mainly in advanced disease. Variability in biomarker selection, timing, and access to counseling reflects differences in local practice. Initiatives that support harmonized diagnostic pathways may further strengthen precision oncology in BTC.