乳腺癌易感基因（BRCA）1/2与乳腺癌和卵巢癌的发生发展密切相关。
2016年6月20日，美国临床肿瘤学会《临床肿瘤学杂志》在线发表新墨西哥大学、犹他大学、新泽西州立大学、北卡罗来纳大学、乔治城大学的随机非劣效性研究，比较了生活在不同地区有遗传性乳腺癌和/或卵巢癌风险女性电话咨询与当面咨询BRCA1/2的1年结局。
结果发现，经过1年随访，电话咨询（493例）与当面咨询（495例）相比，心理社会和明智决策的结局并于逊色：焦虑（差值：0.08，97.5%置信区间上界：0.45）、癌症特异性窘迫感（差值：0.66，97.5%置信区间上界：2.28）、个人控制感（差值：-0.01，97.5%置信区间下界：-0.06）、决策冲突（差值：-0.12，97.5%置信区间上界：2.03）。电话咨询的BRCA1/2检测接受率（27.9%）低于当面咨询（37.3%），相差9.4%（95%置信区间：2.2%～16.8%），农村居民高于城市居民。
因此，虽然电话咨询的BRCA1/2检测接受率较低，但是电话咨询可以有效扩大覆盖范围，而且不伴长期不良心理社会后果。需要进一步工作以确定风险管理指南长期依从性和提高初级和次级预防策略利用率的有效策略。
J Clin Oncol. 2016 Jun 20. [Epub ahead of print]
Randomized Noninferiority Trial of Telephone Delivery of BRCA1/2 Genetic Counseling Compared With In-Person Counseling: 1-Year Follow-Up.
Kinney AY, Steffen LE, Brumbach BH, Kohlmann W, Du R, Lee JH, Gammon A, Butler K, Buys SS, Stroup AM, Campo RA, Flores KG, Mandelblatt JS, Schwartz MD.
University of New Mexico, Albuquerque, NM; University of Utah, Salt Lake City, UT; Rutgers, The State University of New Jersey, New Brunswick, NJ; University of North Carolina at Chapel Hill, Chapel Hill, NC; Georgetown University, Washington, DC.
PURPOSE: The ongoing integration of cancer genomic testing into routine clinical care has led to increased demand for cancer genetic services. To meet this demand, there is an urgent need to enhance the accessibility and reach of such services, while ensuring comparable care delivery outcomes. This randomized trial compared 1-year outcomes for telephone genetic counseling with in-person counseling among women at risk of hereditary breast and/or ovarian cancer living in geographically diverse areas.
PATIENTS AND METHODS: Using population-based sampling, women at increased risk of hereditary breast and/or ovarian cancer were randomly assigned to in-person (n = 495) or telephone genetic counseling (n = 493). One-sided 97.5% CIs were used to estimate the noninferiority effects of telephone counseling on 1-year psychosocial, decision-making, and quality-of-life outcomes. Differences in test-uptake proportions for determining equivalency of a 10% prespecified margin were evaluated by 95% CIs.
RESULTS: At the 1-year follow-up, telephone counseling was noninferior to in-person counseling for all psychosocial and informed decision-making outcomes: anxiety (difference [d], 0.08; upper bound 97.5% CI, 0.45), cancer-specific distress (d, 0.66; upper bound 97.5% CI, 2.28), perceived personal control (d, -0.01; lower bound 97.5% CI, -0.06), and decisional conflict (d, -0.12; upper bound 97.5% CI, 2.03). Test uptake was lower for telephone counseling (27.9%) than in-person counseling (37.3%), with the difference of 9.4% (95% CI, 2.2% to 16.8%). Uptake was appreciably higher for rural compared with urban dwellers in both counseling arms.
CONCLUSION: Although telephone counseling led to lower testing uptake, our findings suggest that telephone counseling can be effectively used to increase reach and access without long-term adverse psychosocial consequences. Further work is needed to determine long-term adherence to risk management guidelines and effective strategies to boost utilization of primary and secondary preventive strategies.
PMID: 27325848
PII: JCO659557
DOI: 10.1200/JCO.2015.65.9557
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