对生殖系多基因小组测试的心理结果知之甚少,特别是在不同的患者和具有中等风险致病变异体(PVs)的患者中.
研究参与者(N=1264)接受了25或28个基因小组的咨询和测试,并完成了3个月的结果调查,包括癌症风险评估的多维影响(MICRA)。
平均年龄是52岁,80%是女性,70%患有癌症;45%是非西班牙裔白人,37%是西班牙裔,10%是亚洲人,3%是黑色的,5%有另一个种族/民族。大约28%的人受过高中教育或以下,23%的人不讲英语。基因检测结果如下:7%的人患有高风险PV,6%的人有中等风险的PV,35%有不确定显著性(VUS)变异,52%为阴性。大多数参与者(92%)的MICRA总分≤38,这相当于“从不”的平均反应,“”很少,\"或仅\"有时\"对结果做出负面反应。多变量分析发现,与VUS或阴性结果(分别为17.4和16.1)相比,高风险和中等风险光伏运营商的平均MICRA总分(不确定性/困扰更大)明显更高(分别为29.7和24.8)。患有癌症或受教育程度较低与MICRA总分明显较高相关;种族/民族与MICRA总分无关。高风险和中等风险的光伏运营商在MICRA总分中彼此之间没有显着差异,不确定性,苦恼,或积极的经验。
在接受遗传咨询和多基因小组检测遗传性癌症风险的不同人群中,心理反应与测试结果一致,表现出较低的痛苦和不确定性。需要进一步的研究来评估来自不同背景的患者对患者的理解和随后的癌症筛查。
遗传性癌症的多基因小组测试已经变得普遍,尽管人们担心中等风险致病性变异(突变)携带者和不确定意义的变异携带者之间的不良心理反应。这项对种族和经济上不同的患者进行小组测试的大型研究发现,92%的人“从来没有,“”很少,\"或仅\"有时\"对结果做出负面反应。在高风险和中等风险致病变异的携带者中发现了更高的不确定性和痛苦,在具有不确定意义或阴性结果的变体中,确定了较低的水平。尽管心理反应与风险相对应,对测试的反应是有利的,不管结果。
Little is known about the psychological outcomes of germline multigene panel testing, particularly among diverse patients and those with moderate-risk pathogenic variants (PVs).
Study participants (N = 1264) were counseled and tested with a 25- or 28-gene panel and completed a 3-month postresult survey including the Multidimensional Impact of Cancer Risk Assessment (MICRA).
The mean age was 52 years, 80% were female, and 70% had cancer; 45% were non-Hispanic White, 37% were Hispanic, 10% were Asian, 3% were Black, and 5% had another race/ethnicity. Approximately 28% had a high school education or less, and 23% were non-English-speaking. The genetic test results were as follows: 7% had a high-risk PV, 6% had a moderate-risk PV, 35% had a variant of uncertain significance (VUS), and 52% were negative. Most participants (92%) had a total MICRA score ≤ 38, which corresponded to a mean response of \"never,\" \"rarely,\" or only \"sometimes\" reacting negatively to results. A multivariate analysis found that mean total MICRA scores were significantly higher (more uncertainty/distress) among high- and moderate-risk PV carriers (29.7 and 24.8, respectively) than those with a VUS or negative results (17.4 and 16.1, respectively). Having cancer or less education was associated with a significantly higher total MICRA score; race/ethnicity was not associated with the total MICRA score. High- and moderate-risk PV carriers did not differ significantly from one another in the total MICRA score, uncertainty, distress, or positive experiences.
In a diverse population undergoing genetic counseling and multigene panel testing for hereditary cancer risk, the psychological response corresponded to test results and showed low distress and uncertainty. Further studies are needed to assess patient understanding and subsequent cancer screening among patients from diverse backgrounds.
Multigene panel tests for hereditary cancer have become widespread despite concerns about adverse psychological reactions among carriers of moderate-risk pathogenic variants (mutations) and among carriers of variants of uncertain significance. This large study of an ethnically and economically diverse cohort of patients undergoing panel testing found that 92% \"never,\" \"rarely,\" or only \"sometimes\" reacted negatively to results. Somewhat higher uncertainty and distress were identified among carriers of high- and moderate-risk pathogenic variants, and lower levels were identified among those with a variant of uncertain significance or a negative result. Although the psychological response corresponded to risk, reactions to testing were favorable, regardless of results.