Expanding access to genetic testing for pancreatic cancer.

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-05-11 DOI:10.1007/s10689-024-00389-w

Nicolette Juliana Rodriguez, Sapna Syngal

引用次数: 0

Abstract

Among individuals with pancreatic ductal adenocarcinoma (PDAC) 5-10% have a pathogenic germline variant (PGV) in a PDAC susceptibility gene. Guidelines recommend genetic testing among all individuals with PDAC. Additionally, at-risk relatives of PDAC patients benefit from their own genetic education, risk assessment, and testing. Multigene panel testing (MGPT) can identify individuals with inherited cancer risk who can benefit from early cancer surveillance and risk reduction strategies. This manuscript discusses various healthcare delivery models for MGPT including traditional in-person genetic counseling, novel integrated in-person infrastructures, telemedicine genetics care via telephone- or video-visits and direct-to-consumer testing. Barriers and facilitators to care on the individual, provider, and system level are also outlined including specific considerations for historically marginalized communities.

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扩大胰腺癌基因检测的可及性。

在胰腺导管腺癌（PDAC）患者中，有 5-10%的人存在 PDAC 易感基因的致病性种系变异（PGV）。指南建议对所有 PDAC 患者进行基因检测。此外，PDAC 患者的高危亲属也可从自身的基因教育、风险评估和检测中获益。多基因面板检测（MGPT）可识别具有遗传性癌症风险的个体，这些个体可从早期癌症监测和风险降低策略中获益。本手稿讨论了 MGPT 的各种医疗服务模式，包括传统的面对面遗传咨询、新颖的综合面对面基础设施、通过电话或视频访问的远程医疗遗传学护理以及直接面向消费者的检测。此外，还概述了个人、医疗服务提供者和系统层面的障碍和促进因素，包括对历史上被边缘化群体的具体考虑。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Familial Cancer 医学-遗传学

CiteScore

4.10

自引率

4.50%

发文量

审稿时长

6-12 weeks

期刊介绍： In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.