Department of Health Services Research, Management and Policy, College of Public Health and Health Professions, University of Florida, Gainesville, Florida, USA.
Department of Health Outcomes and Bioinformatics, College of Medicine, University of Florida, Gainesville, Florida, USA.
Public Health Genomics. 2024;27(1):124-135. doi: 10.1159/000540341. Epub 2024 Aug 5.
Genetic tests, including germline and tumor (somatic) testing, can optimize the clinical care and outcomes for cancer patients and their family members. However, evidence on cancer patients' use of genetic testing and discussions about it with healthcare providers is limited.
Study participants included cancer survivors aged 18 or older, drawn from the 2021 Health Information and National Trends Survey (HINTS)-Surveillance, Epidemiology, and End Results (SEER) linked database, which comprises three US cancer registries: Iowa, New Mexico, and the Greater Bay Area. Sociodemographic factors (e.g., age, sex, income, education) at the time of the survey and clinical characteristics (e.g., cancer site, stage) at the time of diagnosis were compared based on self-reported genetic testing status and provider discussions, using survey design-adjusted analysis.
The weighted study sample comprised 415,978 cancer survivors with a mean age of 70.5 years at the time of the survey. Overall, 17.0% reported having germline testing, 8.5% having tumor testing, and 8.6% discussing tumor testing with their healthcare providers. Higher proportions of germline genetic testing were observed among survivors under age 65 at the time of the survey, females, holding college degrees, and with private insurance coverage compared to their respective counterparts - males, aged 65 or above when surveyed, with lower educational attainment, and with public insurance or uninsured. The proportion of those who reported tumor testing was greater for those diagnosed in recent years (2015-2017 vs. before 2002). Regarding clinical characteristics, survivors with ovarian and breast cancers had a 7.0-36.4% higher prevalence of both testing compared to those with other cancer types lacking germline indication. More cancer survivors diagnosed at distant stages (vs. regional) or between 2015 and 2017 (vs. 2003-2010) reported having provider discussions about tumor testing.
Findings showed that the highest reports of germline testing were among young female cancer survivors and those with higher education and private insurance. Survivors diagnosed in recent years or with advanced-stage disease were more likely to report discussing tumor testing with providers. Further research is warranted to better understand the barriers and educational needs of cancer patients, caregivers, and providers to optimize genetic testing strategies.
遗传检测，包括胚系和肿瘤（体细胞）检测，可以优化癌症患者及其家属的临床护理和结果。然而，关于癌症患者使用遗传检测及其与医疗保健提供者讨论的证据有限。
研究参与者包括年龄在 18 岁或以上的癌症幸存者，他们来自 2021 年健康信息和国家趋势调查（HINTS）-监测、流行病学和最终结果（SEER）链接数据库，该数据库由美国三个癌症登记处组成：爱荷华州、新墨西哥州和大湾地区。根据调查时的社会人口因素（如年龄、性别、收入、教育）和诊断时的临床特征（如癌症部位、分期），基于自我报告的遗传检测状态和提供者讨论，使用调查设计调整分析进行比较。
加权研究样本包括 415978 名癌症幸存者，他们在调查时的平均年龄为 70.5 岁。总体而言，17.0%的人报告进行了胚系检测，8.5%的人进行了肿瘤检测，8.6%的人与医疗保健提供者讨论了肿瘤检测。与各自的对照组相比，在调查时年龄在 65 岁以下、女性、具有大学学历和私人保险的幸存者中，胚系遗传检测的比例更高-男性，在调查时年龄在 65 岁或以上，教育程度较低，以及有公共保险或没有保险。报告进行肿瘤检测的比例在最近几年（2015-2017 年）诊断的患者中更高。关于临床特征，与没有胚系指征的其他癌症类型相比，卵巢癌和乳腺癌的幸存者进行这两种检测的比例均高出 7.0-36.4%。更多在远处阶段（与局部阶段相比）或在 2015 年至 2017 年（与 2003-2010 年相比）诊断的癌症幸存者报告了与提供者讨论肿瘤检测。
研究结果表明，胚系检测报告率最高的是年轻的女性癌症幸存者和那些具有较高教育程度和私人保险的幸存者。最近几年诊断的或处于晚期疾病的幸存者更有可能与提供者讨论肿瘤检测。需要进一步研究，以更好地了解癌症患者、护理人员和提供者的障碍和教育需求，以优化遗传检测策略。
