Jong Chiem Leonardo de, Siesling Sabine, Puts Ghita Carola Wilhelmina Maria, Jager Agnes, Ausems Margreet Geertruda Elia Maria
Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, Netherlands.
Department of Research and Development, Netherlands Comprehensive Cancer Organisation (IKNL), Utrecht, Netherlands.
Breast Cancer Res. 2025 Jul 14;27(1):129. doi: 10.1186/s13058-025-02081-y.
Genetic testing in breast cancer patients is important for the patient's local and systemic treatment choices and follow-up, as well as for their family members. Not all eligible patients currently undergo genetic testing and disparities persist in genetic testing uptake. It is unknown on the large scale whether pre-test counselling by non-genetic healthcare professionals (HCPs)-mainstream genetic testing (MGT) - improves overall genetic testing uptake and reduces disparities. We examined the impact of MGT on germline genetic testing uptake in general and in subgroups of socioeconomic status (SES) in particular.
In this retrospective nationwide cohort study, we selected all breast cancer patients from the Netherlands Cancer Registry who were eligible for genetic testing according to patient and tumour characteristics under the Dutch guidelines and who were diagnosed between 1-Jan-2017 and 31-Dec-2022. The primary outcome was genetic testing uptake. The influence of MGT and SES on overall uptake and uptake across different SES levels was evaluated using chi-squared tests and multivariable logistic regression analyses.
A total of 12,071 breast cancer patients were included. Overall genetic testing uptake was 67%: 78% for MGT versus 63% in referral to a genetics department (RGD) (p < 0.001) with significantly higher odds of receiving genetic testing for MGT versus RGD (OR 2.48, 95% CI 2.14-2.87). Patients with low SES showed significantly lower odds of receiving genetic testing compared to those with a high SES (OR 0.71, 95% CI 0.61-0.83). In MGT, no significant difference was found between low and high SES in the likelihood of receiving genetic testing (OR 0.75, 95% CI 0.50-1.13).
MGT significantly increases genetic testing uptake among all eligible patients and across all SES subgroups, strongly encouraging further implementation of MGT. Educating HCPs about current disparities in genetic testing is essential to improve health equity in breast cancer care.
对乳腺癌患者进行基因检测对于患者的局部和全身治疗选择及随访以及其家庭成员都很重要。目前并非所有符合条件的患者都接受基因检测，基因检测的接受情况仍存在差异。大规模来看，尚不清楚非基因医疗保健专业人员（HCPs）进行的检测前咨询——主流基因检测（MGT）——是否能提高总体基因检测接受率并减少差异。我们研究了MGT对总体以及社会经济地位（SES）亚组中种系基因检测接受情况的影响。
在这项全国性回顾性队列研究中，我们从荷兰癌症登记处选取了所有根据荷兰指南中患者和肿瘤特征符合基因检测条件且在2017年1月1日至2022年12月31日期间被诊断的乳腺癌患者。主要结局是基因检测接受情况。使用卡方检验和多变量逻辑回归分析评估MGT和SES对总体接受情况以及不同SES水平接受情况的影响。
共纳入12,071例乳腺癌患者。总体基因检测接受率为67%：MGT组为78%，而转诊至遗传学部门（RGD）组为63%（p < 0.001），MGT组接受基因检测的几率显著高于RGD组（OR 2.48，95% CI 2.14 - 2.87）。与高SES患者相比，低SES患者接受基因检测的几率显著更低（OR 0.71，95% CI 0.61 - 0.83）。在MGT中，低SES和高SES患者接受基因检测的可能性无显著差异（OR 0.75，95% CI 0.50 - 1.13）。
MGT显著提高了所有符合条件患者以及所有SES亚组中的基因检测接受率，有力地鼓励了MGT的进一步实施。对HCPs进行关于当前基因检测差异的教育对于改善乳腺癌护理中的健康公平性至关重要。
