Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing.

IF 2 4区医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2024-11-08 DOI:10.1186/s13053-024-00298-0

Callan D Russell, Ashley V Daley, Durand R Van Arnem, Andi V Hila, Kiley J Johnson, Jill N Davies, Hanah S Cytron, Kaylene J Ready, Cary M Armstrong, Mark E Sylvester, Colleen A Caleshu

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Abstract

Background: Efficient and scalable solutions are needed to identify patients who qualify for germline cancer genetic testing. We evaluated the clinical validity of a brief, patient-administered hereditary cancer risk assessment digital tool programmed to assess if patients meet criteria for germline genetic testing, based on personal and family history, and in line with national guidelines.

Methods: We applied the tool to cases seen in a nationwide telehealth genetic counseling practice. Validity of the tool was evaluated by comparing the tool's assessment to that of the genetic counselor who saw the patient. Patients' histories were extracted from genetic counselor-collected pedigrees and input into the tool by the research team to model how a patient would complete the tool. We also validated the tool's assessment of which specific aspects of the personal and family history met criteria for genetic testing. Descriptive statistics were used.

Results: Of the 152 cases (80% female, mean age 52.3), 56% had a personal history of cancer and 66% met genetic testing criteria. The tool and genetic counselor agreed in 96% of cases. Most disagreements (4/6; 67%) occurred because the genetic counselor's assessment relied on details the tool was not programmed to collect since patients typically don't have access to the relevant information (pathology details, risk models). We also found complete agreement between the tool and research team on which specific aspects of the patient's history met criteria for genetic testing.

Conclusion: We observed a high level of agreement with genetic counselor assessments, affirming the tool's clinical validity in identifying individuals for hereditary cancer predisposition testing and its potential for increasing access to hereditary cancer risk assessment.

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验证基于指南的数字工具，以评估是否需要进行种系癌症基因检测。

背景：我们需要高效且可扩展的解决方案来确定哪些患者有资格进行种系癌症基因检测。我们评估了一个简短的、由患者管理的遗传性癌症风险评估数字工具的临床有效性，该工具是根据个人和家族病史以及国家指导方针设计的，用于评估患者是否符合种系遗传检测的标准：我们将该工具应用于全国范围内远程医疗遗传咨询实践中的病例。方法：我们将该工具应用于全国范围内的远程医疗遗传咨询实践中的病例，通过将该工具的评估结果与为患者看病的遗传咨询师的评估结果进行比较，来评估该工具的有效性。研究小组从遗传咨询师收集的血统中提取了患者的病史，并将其输入该工具，以模拟患者如何完成该工具。我们还验证了该工具对个人和家族病史中哪些具体方面符合基因检测标准的评估。我们使用了描述性统计方法：在 152 个病例中（80% 为女性，平均年龄 52.3 岁），56% 有个人癌症病史，66% 符合基因检测标准。在 96% 的病例中，工具和遗传咨询师意见一致。大多数分歧（4/6；67%）发生的原因是遗传咨询师的评估依赖于工具程序无法收集的细节，因为患者通常无法获得相关信息（病理细节、风险模型）。我们还发现，在患者病史的哪些具体方面符合基因检测标准的问题上，该工具与研究团队的意见完全一致：我们观察到该工具与遗传咨询师的评估结果高度一致，这肯定了该工具在识别遗传性癌症易感性检测个体方面的临床有效性，以及它在增加遗传性癌症风险评估机会方面的潜力。

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来源期刊

Hereditary Cancer in Clinical Practice 医学-肿瘤学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

>12 weeks

期刊介绍： Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.