Germline genetic testing among patients with pancreatic adenocarcinoma: A Pancreatic Cancer Action Network patient survey.
Gene / mechanism
Under-utilization of recommended universal germline testing, with racial and geographic inequities
Summary
A national US survey of 1,046 pancreatic adenocarcinoma patients evaluates implementation of recommended universal germline testing. Among patients, 66.2% were offered testing and 69.2% completed it. Among those tested, 23.2% carried a pathogenic germline variant, mainly BRCA2, ATM, and BRCA1. Significant inequities persist: Black race, lack of insurance, and community practice setting were associated with lower testing access. Cascade testing was performed in only 61.7% of first-degree relatives of carriers.
Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.
Analysis
The carrier rate (23.2%) in PDAC confirms the value of universal testing. However, persistent inequities by race, insurance status, and treatment setting are concerning. The low cascade testing rate (62%) represents a major missed opportunity for secondary prevention in high-risk relatives.
Why this score?
Clinical impact: 2/3 · Evidence quality: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Journal quality: 1/1 → Total: 7/10
Keywords
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