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

Sep 23, 2026

Paired normal-tumour genetic testing was evaluated for its effect on access to targeted therapies, clinical trials, and on cancer screening recommendations for patients with upper gastrointestinal cancers and their families. A prospective cohort included patients newly diagnosed between 01 January 2021 and 31 December 2022 with oesophageal, gastro-oesophageal junction, and stomach cancers, excluding other cancer types. Paired germline and tumour testing occurred within 90 days. Among 42 patients, 76.2% were eligible for at least one targeted therapy, and six families received personalised screening recommendations.

LanguageEnglish

CategoryHealthcare

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Abstract

Strengths and limitations of this study

Introduction

Open access Original research 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 Kevin Tatunay,1 Stacey Cohen ,1,2 Lorraine V Naylor,1 Cynthia L Handford,1 Angela Jacobson,2 Veena Shankaran,1,2 Brant Oelschlager,2 William M Grady,1,2 Britta Sjoding,1 Everett Lally,1 Lauren Facchini,1 Qin Sun,1 Mercy Y Laurino,1 Colin Pritchard,2 Eric Q Konnick,2 Marianne E Dubard-Gault 1,3 To cite: Tatunay K, Cohen S, Naylor LV, et al. 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. BMJ Open 2025;15:e091745 . doi:10 . 1136/ bmjopen-2024-091745 ► Prepublication history and additional supplemental material for this paper are available online. To view these files, please visit the journal online ([https://doi.org/10.1136/](https://doi.org/10.1136/)[ ](https://doi.org/10.1136/)[bmjopen-2024-091745](bmjopen-2024-091745)) . Received 15 February 2025 Accepted 02 May 2025 © Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ Group. 1Fred Hutchinson Cancer Center, Seattle, Washington, USA 2University of Washington, Seattle, Washington, USA 3Oncology, Providence Swedish Caner Institute, Seattle, Washington, USA Correspondence to Dr Marianne E Dubard-Gault; Marianne. Dubard-Gault@ [Swedish.org](Swedish.org) 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. STRENGTHS AND LIMITATIONS OF THIS STUDY ⇒ This is a prospective cohort characterising 42 patients newly diagnosed with upper gastrointestinal cancers between 01 January 2021 and 31 December 2022. ⇒ Retrospective review of claims from major payors was performed to assess characteristics of prior patients with upper gastrointestinal cancers and frequency of genetics referral in our region. ⇒ We offered paired germline and tumour genetic testing and assessed its impact on choice of targeted therapy, access to clinical trials and cancer screening recommendations. ⇒ Our study is limited to one large academic cancer centre and to genetic testing that was clinical

FAQs

What question does the study address about paired genetic testing?

It assesses whether paired normal-tumour testing increases access to targeted therapy and clinical trials, and whether it influences cancer screening recommendations for patients and their families.

Who were the participants and what cancers were included?

Patients newly diagnosed between 01 January 2021 and 31 December 2022 with oesophagus, gastro-oesophageal junction and stomach cancers were included, while other cancer diagnoses were excluded.

What were the main findings on eligibility for targeted therapies and screening recommendations?

Of 42 patients, 76.2% were eligible for at least one targeted therapy, and six families received personalised screening recommendations due to the study.

Sep 23, 2026

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