Hereditary Cancer Unit, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Genetics Department, Universidad Autònoma de Barcelona, Barcelona, Spain.
Psychooncology. 2018 Jun;27(6):1530-1537. doi: 10.1002/pon.4686. Epub 2018 Mar 26.
Patients' psychological reactions to multigene cancer panel testing might differ compared with the single-gene testing reactions because of the complexity and uncertainty associated with the different possible results. Understanding patients' preferences and psychological impact of multigene panel testing is important to adapt the genetic counselling model.
One hundred eighty-seven unrelated patients with clinical suspicion of hereditary cancer undergoing a 25-gene panel test completed questionnaires after pretest genetic counselling and at 1 week, 3 months, and 12 months after results to elicit their preferences regarding results disclosure and to measure their cancer worry and testing-specific distress and uncertainty.
A pathogenic variant was identified in 38 patients (34 high penetrance and 4 moderate penetrance variants), and 54 patients had at least one variant of uncertain significance. Overall, cancer panel testing was not associated with an increase in cancer worry after results disclosure (P value = .87). Twelve months after results, carriers of a moderate penetrance variant had higher distress and uncertainty scores compared with carriers of high penetrance variants. Cancer worry prior to genetic testing predicted genetic testing specific distress after results, especially at long term (P value <.001). Most of the patients reported the wish to know all genetic results.
Our results suggest that patients can psychologically cope with cancer panel testing, but distress and uncertainty observed in carriers of moderate penetrance cancer variants in this cohort warrant further research.
与单基因检测反应相比,患者对多基因癌症panel 检测的心理反应可能不同,因为与不同可能结果相关的复杂性和不确定性。了解患者对多基因panel 检测的偏好和心理影响对于适应遗传咨询模式很重要。
187 名临床怀疑遗传性癌症的无亲属关系患者在接受 25 基因panel 检测前接受了遗传咨询,并在检测结果后 1 周、3 个月和 12 个月完成了问卷,以了解他们对结果披露的偏好,并测量他们的癌症担忧以及检测特异性焦虑和不确定性。
38 名患者(34 名高外显率和 4 名中外显率变异)中确定了致病性变异,54 名患者至少有一个意义不明的变异。总体而言,结果披露后癌症panel 检测并未增加癌症担忧(P 值 =.87)。结果后 12 个月,中度外显率变异携带者的焦虑和不确定性评分高于高外显率变异携带者。遗传检测前的癌症担忧预测了遗传检测后的特定焦虑,尤其是长期(P 值 <.001)。大多数患者报告希望了解所有遗传结果。
我们的研究结果表明,患者可以在心理上应对癌症panel 检测,但在该队列中观察到的中度外显率癌症变异携带者的焦虑和不确定性需要进一步研究。