Does paired genetic testing improve targeted therapy choices and screening recommendations for patients with upper gastrointestinal cancers and their families? A prospective cohort of 42 patients.
Publication Title
BMJ Open
Document Type
Article
Publication Date
5-26-2025
Keywords
Humans; Male; Female; Genetic Testing; Prospective Studies; Middle Aged; Aged; Gastrointestinal Neoplasms; Esophageal Neoplasms; Early Detection of Cancer; Adult; Molecular Targeted Therapy; Stomach Neoplasms; Genetic Predisposition to Disease; CHEMOTHERAPY; Cancer genetics; Gastrointestinal tumours; Health Services; Molecular aspects.; swedish; swedish cancer; washington
Abstract
OBJECTIVES: Our study was designed to assess whether paired normal-tumour testing increased access to targeted therapy, clinical trials and influenced cancer screening recommendations given to patients and their families.
DESIGN: Prospective cohort study.
SETTING: Academic cancer centre in the Pacific Northwest region of the USA.
PARTICIPANTS: Patients newly diagnosed between 01 January 2021 and 31 December 2022 with cancers of the oesophagus, gastro-oesophageal junction and stomach (CEGEJS) were included. All other cancer diagnoses such as head and neck, duodenal and lower gastrointestinal tract cancers were excluded.
INTERVENTION: Paired germline and tumour genetic test within 90 days of new patient visit.
PRIMARY OUTCOME MEASURES: Number of targeted therapies received (or not) when eligible, follow-up treatment data and number of inherited predispositions to cancers identified. No secondary outcome measures.
RESULTS: Of 42 patients, 32 (76.2%) were eligible for at least one targeted therapy. 19 patients received immunotherapy, when 16 had a biomarker predicting immunotherapy benefit, and benefit of immunotherapy was unclear for 3. Another 11 did not have this biomarker, and 6 of them received immunotherapy. Six pathogenic variants were identified in four high-risk genes. By 01 January 2024, 18 patients (42.9%) had died of complications of cancer.
CONCLUSION: More than 75% of patients who received tumour testing were eligible for a targeted therapy regardless of their stage at diagnosis, emphasising the need to expand access to testing with staging workup to improve survival outcomes. Six families received personalised screening recommendations, thanks to this study.
Area of Special Interest
Cancer
Area of Special Interest
Digestive Health
Specialty/Research Institute
Oncology
Specialty/Research Institute
Gastroenterology
DOI
10.1136/bmjopen-2024-091745
