Swink Alicia, Nair Anju, Hoof Pamela, Matthews Antoinette, Burden Chelsey, Johnson Kelly, Blum Joanne L
Division of Hematology and Oncology, Department of Internal Medicine, Baylor Charles A. Sammons Cancer Center, Baylor University Medical CenterDallasTexas.
Department of Cancer Genetics, Baylor Charles A. Sammons Cancer Center, Baylor University Medical CenterDallasTexas.
Proc (Bayl Univ Med Cent). 2019 Jun 11;32(3):340-344. doi: 10.1080/08998280.2019.1612702. eCollection 2019 Jul.
A heritable condition is the identified cause of cancer in 5% to 10% of women with breast cancer and in 25% of women with ovarian cancer. It is critical to identify patients at risk for inherited genetic mutations to implement risk-reducing screening and interventions; however, reports in the medical literature indicate that an alarming number of patients with inherited genetic mutations do not receive recommended genetic counseling, testing, or interventions. In order to improve outcomes for these high-risk patients, barriers to genetic testing and counseling must be identified. We analyzed approximately 200 patients seen at our institution with breast or ovarian cancer who met criteria of the National Comprehensive Cancer Network for genetic counseling and testing. Of these patients, almost 70% had appropriate genetic testing and counseling. Review of the remaining 30% revealed that the largest obstacle to receiving genetic testing and/or counseling was lack of referral from the treating oncologist. Of the patients diagnosed with a pathogenic heritable mutation, most underwent appropriate risk-reducing procedures and surveillance. Thus, the initial referral to genetic counseling is the most significant barrier for at-risk patients at our institution and likely in this population at large. Additional study is needed to identify ways to improve appropriate use of genetic testing and counseling.
遗传性疾病是5%至10%的乳腺癌女性患者以及25%的卵巢癌女性患者确诊患癌的病因。识别有遗传基因突变风险的患者,以实施降低风险的筛查和干预措施至关重要;然而,医学文献中的报告表明,数量惊人的遗传基因突变患者未接受推荐的遗传咨询、检测或干预。为改善这些高危患者的治疗效果,必须找出基因检测和咨询的障碍。我们分析了在我们机构就诊的约200例符合美国国立综合癌症网络基因咨询和检测标准的乳腺癌或卵巢癌患者。在这些患者中,近70%接受了适当的基因检测和咨询。对其余30%患者的审查显示,接受基因检测和/或咨询的最大障碍是缺乏主治肿瘤学家的转诊。在被诊断出致病性遗传突变的患者中,大多数人接受了适当的降低风险程序和监测。因此,对于我们机构以及可能总体上在这一人群中的高危患者而言,最初转介至遗传咨询是最显著的障碍。需要进一步研究以确定改善基因检测和咨询合理使用的方法。