O'Neill Suzanne M, Peters June A, Vogel Victor G, Feingold Eleanor, Rubinstein Wendy S
Center for Medical Genetics, Evanston Northwestern Healthcare, 1000 Central Street, Evanston, IL 60201, USA.
Am J Med Genet C Semin Med Genet. 2006 Nov 15;142C(4):221-31. doi: 10.1002/ajmg.c.30109.
As genetic awareness spreads among healthcare providers and the general public, and evidence mounts to show the efficacy of cancer control methods, referrals to cancer genetic counseling services for risk assessment are becoming more common. However, few studies have examined referral patterns to genetics and even less is known about referral uptake to clinical cancer genetic counseling. We investigated outcome of genetics referral in 43 affected women attending a breast cancer treatment program who were referred based on having BRCA mutation carrier risks > or =10%. Within 6 months, of the 36 women we were able to recontact, 13 (36%) came to an appointment at the cancer genetic counseling clinic (Acceptors), 10 (27%) said they intended to come in the future (Intenders), and 13 (36%) said they would not consider genetic counseling (Decliners). Referral uptake was framed by elements of the Transtheoretical model (TTM) to determine if decisional balance scores (DBSs), a summary of an individual's "Pro" and "Con" opinions related to genetic testing, correlated with their decision to follow through. Mean DBS's were strongly negative for the Decliner group (-7.4), weakly negative for the Intender group (-1.1), and positive for the Acceptor group (5.4). The difference in the DBS along the continuum was due more to the mean "Con" score decreasing, rather than the mean "Pro" score increasing. Theoretical frameworks are needed to study adherence to referral for cancer genetic counseling. Stage-based theories may have a role to play.
随着基因意识在医疗服务提供者和普通公众中传播，且越来越多的证据表明癌症控制方法的有效性，因风险评估而转诊至癌症基因咨询服务机构的情况日益普遍。然而，很少有研究调查过转诊至遗传学领域的模式，对于临床癌症基因咨询的转诊接受情况更是知之甚少。我们调查了43名参加乳腺癌治疗项目的患病女性的基因转诊结果，这些女性因携带BRCA突变的风险≥10%而被转诊。在6个月内，我们能够再次联系到的36名女性中，有13名（36%）前来癌症基因咨询诊所预约（接受者），10名（27%）表示她们打算在未来前来（意向者），13名（36%）表示她们不会考虑基因咨询（拒绝者）。采用跨理论模型（TTM）的要素来构建转诊接受情况框架，以确定决策平衡分数（DBS）（个体对基因检测的“支持”和“反对”意见的总结）是否与她们后续跟进的决定相关。拒绝者组的平均DBS为强负数（-7.4），意向者组为弱负数（-1.1），接受者组为正数（5.4）。连续体上DBS的差异更多是由于平均“反对”分数下降，而非平均“支持”分数上升。需要理论框架来研究对癌症基因咨询转诊的依从性。基于阶段的理论可能会发挥作用。
