目的：通过通用基因检测准确确定泛癌症患者人群中致病性种系变异（PGV）的频率，并评估接受基因检测对医疗成本的经济影响。
方法：在这项前瞻性研究中，使用105个基因组的种系基因检测被用于未选择的泛癌症患者群体,而与当前指南的资格无关.分析受试者的财务记录以评估自测试之日起一年的PGV检测对护理成本的影响。
结果：共有284名患者参加了这项研究，其中44名患者（15％）在14种不同类型的癌症中检测出PGV阳性。在患有PGV的患者中，23名患者（52％）不符合当前指南的测试条件。PGV的鉴定不会增加护理成本。
结论：在临床上对癌症患者实施通用基因检测，超出现行准则规定的范围，对于准确评估和治疗遗传性癌症综合征是必要的，并且不会增加医疗保健成本。
OBJECTIVE: To accurately ascertain the frequency of pathogenic germline variants (PGVs) in a pan-cancer patient population with universal genetic testing and to assess the economic impact of receiving genetic testing on healthcare costs.
METHODS: In this prospective study, germline genetic testing using a 105-gene panel was administered to an unselected pan-cancer patient population irrespective of eligibility by current
guidelines. Financial records of subjects were analyzed to assess the effect of PGV detection on cost of care one year from the date of testing.
RESULTS: A total of 284 patients participated in this study, of which 44 patients (15%) tested positive for a PGV in 14 different cancer types. Of the patients with PGVs, 23 patients (52%) were ineligible for testing by current
guidelines. Identification of a PGV did not increase cost of care.
CONCLUSIONS: Implementation of universal genetic testing for cancer patients in the clinic, beyond that specified by current
guidelines, is necessary to accurately assess and treat hereditary cancer syndromes and does not increase healthcare costs.
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