Perkins Adrienne T, Haslem Derrick, Goldsberry Jessica, Shortt Katherine, Sittig Laura, Raghunath Sharanya, Giauque Christopher, Snow Shawnee, Fulde Gail, Moulton Bryce, Jones David, Nadauld Lincoln
Intermountain Healthcare, Precision Genomics, Saint George, UT 84790, USA.
Cancers (Basel). 2021 Nov 10;13(22):5612. doi: 10.3390/cancers13225612.
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.
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.
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.
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.
通过全面的基因检测准确确定泛癌患者群体中致病种系变异（PGV）的频率，并评估接受基因检测对医疗成本的经济影响。
在这项前瞻性研究中，使用包含105个基因的检测板对未经筛选的泛癌患者群体进行种系基因检测，无论其是否符合当前指南的标准。分析受试者的财务记录，以评估检测到PGV对检测日期后一年护理成本的影响。
共有284名患者参与了本研究，其中44名患者（15%）在14种不同癌症类型中检测出PGV呈阳性。在携带PGV的患者中，23名患者（52%）不符合当前指南的检测标准。检测到PGV并未增加护理成本。
在临床中对癌症患者进行超出当前指南规定范围的全面基因检测，对于准确评估和治疗遗传性癌症综合征是必要的，且不会增加医疗成本。
