Hong Young-Rock, Wang Ruixuan, Carrier Allison, Ricks-Santi Luisel, Kea Turner, Patel Krupal, Virnig Beth A, Sahin Ilyas, Braithwaite Dejana
Department of Family and Preventive Medicine, Emory University School of Medicine, 1516 Clifton Rd, R532, Atlanta, GA, 30322, USA.
Department of Health Services Research, Management and Policy, College of Public Health and Health Professions, University of Florida, Gainesville, FL, USA.
J Community Genet. 2025 Apr 30. doi: 10.1007/s12687-025-00797-0.
Genetic testing for cancer risk is a vital tool for preventive care, yet its association with the uptake of evidence-based cancer screening remains unclear. This study examined the association between cancer-risk genetic testing and cancer screening uptake using data from the Health Information National Trends Survey (2017 and 2020), a nationally representative sample of US adults. We focused on the United States Preventive Services Task Force (USPSTF)-recommended screening tests for colorectal (CRC), breast, and cervical cancers. Multivariable logistic regression models, adjusted for sociodemographic and clinical factors, were used to assess the relationship between cancer screening uptake and cancer-risk genetic testing. The analysis included 6,629 respondents (mean age 48.5 years; 50.7% female; 61.1% non-Hispanic White). Of the respondents, 3.3% had undergone genetic testing for cancer risk. Among eligible populations, screening uptake was 85.2% for Pap tests, 80.8% for mammograms, and 81.3% for CRC. Unadjusted analysis showed a significant association between breast cancer screening and genetic testing (p = 0.005), which lost significance after covariate adjustment. Most respondents who underwent genetic testing received result interpretation assistance from healthcare providers and genetic counselors. Among those who received genetic testing, all respondents who received assistance from genetic counselors were adherent to cancer screening recommendations. Our results suggest that while genetic testing was associated with breast cancer screening in unadjusted analyses, this association was not maintained after adjusting for covariates. No significant associations were found between genetic testing and cervical cancer or CRC screening. Further research using prospective designs is needed to examine the effectiveness of genetic testing in enhancing cancer prevention and screening efforts.
癌症风险基因检测是预防性医疗的重要工具，但其与循证癌症筛查的接受情况之间的关联仍不明确。本研究利用健康信息全国趋势调查（2017年和2020年）的数据，对美国成年人的全国代表性样本进行了分析，以研究癌症风险基因检测与癌症筛查接受情况之间的关联。我们重点关注美国预防服务工作组（USPSTF）推荐的结直肠癌（CRC）、乳腺癌和宫颈癌筛查测试。使用经过社会人口统计学和临床因素调整的多变量逻辑回归模型来评估癌症筛查接受情况与癌症风险基因检测之间的关系。分析纳入了6629名受访者（平均年龄48.5岁；50.7%为女性；61.1%为非西班牙裔白人）。在受访者中，3.3%的人接受了癌症风险基因检测。在符合条件的人群中，巴氏试验的筛查接受率为85.2%，乳房X光检查为80.8%，CRC为81.3%。未调整分析显示乳腺癌筛查与基因检测之间存在显著关联（p = 0.005），但在协变量调整后这种关联失去了显著性。大多数接受基因检测的受访者从医疗保健提供者和基因咨询师那里获得了结果解读帮助。在接受基因检测的人中，所有从基因咨询师那里获得帮助的受访者都遵守了癌症筛查建议。我们的结果表明，虽然在未调整分析中基因检测与乳腺癌筛查相关，但在调整协变量后这种关联并未持续。未发现基因检测与宫颈癌或CRC筛查之间存在显著关联。需要使用前瞻性设计进行进一步研究，以检验基因检测在加强癌症预防和筛查工作方面的有效性。
