Wiedower Julie, Smith Hadley Stevens, Farrell Christopher L, Parker Veronica, Rebek Laura, Davis Stephanie Clark
Clemson University, School of Nursing, Clemson, SC; Guardant Health, Redwood City, CA.
Precision Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA; Center for Bioethics, Harvard Medical School, Boston, MA.
Genet Med. 2025 Feb;27(2):101329. doi: 10.1016/j.gim.2024.101329. Epub 2024 Nov 15.
Health care stakeholders' perspectives on the value of genomic testing vary widely and directly affect the access and practice of genomic medicine. To our knowledge, a review of US health care payers' perspectives on genomic testing has not been performed.
We conducted a systematic literature review of US payers' perspectives on genomic testing in the MEDLINE, PubMed, and Cumulative Index to Nursing and Allied Health Literature (CINAHL) databases. Of the 161 nonduplicate records screened, we summarized findings from 20 included records, and using the framework method, common domains were recorded.
Domains included clinical utility, coverage decision frameworks, potential harms, costs, paying for research, demand/pressure, the flexibility of outcomes considered, and personal utility. There was consensus on the definition of clinical utility as improved health outcomes, and the nuances of genomic testing were reported as challenging to fit within existing coverage decision frameworks. Perspectives varied on accepting broader outcomes or uses of genomic testing and whether costs influence coverage decisions. Study methodologies were heterogeneous.
A deeper understanding of how payers approach genomic testing may allow comparison with other stakeholders' perspectives and may identify challenges, opportunities, and solutions to align a conceptual and evidentiary framework better to demonstrate the value of genomic testing.
医疗保健利益相关者对基因检测价值的看法差异很大，直接影响到基因医学的获取和实践。据我们所知，尚未对美国医疗保健支付方对基因检测的看法进行综述。
我们在MEDLINE、PubMed和护理及相关健康文献累积索引（CINAHL）数据库中对美国支付方对基因检测的看法进行了系统的文献综述。在筛选的161条非重复记录中，我们总结了20条纳入记录的研究结果，并使用框架法记录了共同领域。
这些领域包括临床效用、覆盖范围决策框架、潜在危害、成本、为研究付费、需求/压力、所考虑结果的灵活性以及个人效用。对于临床效用的定义为改善健康结果达成了共识，并且报告称基因检测的细微差别难以纳入现有的覆盖范围决策框架。对于接受基因检测更广泛的结果或用途以及成本是否影响覆盖范围决策，各方观点不一。研究方法各异。
更深入地了解支付方如何看待基因检测，可能有助于与其他利益相关者的观点进行比较，并可能识别出挑战、机遇以及解决方案，以便更好地调整概念和证据框架，以证明基因检测的价值。
