Department of General Internal Medicine and Nephrology, Robert-Bosch-Hospital, Auerbachstraße 110, 70376, Stuttgart, Germany.
Department of Mathematics, University of Stuttgart, Pfaffenwaldring 57, 70569, Stuttgart, Germany.
Sci Rep. 2021 Apr 19;11(1):8494. doi: 10.1038/s41598-021-87821-8.
Genetic risk analysis is increasingly in demand by participants. Hybrid genetic testing has the advantage over direct to consumer testing by involving a physician who guides the process and offers counseling after receiving the results. The objective of this study was to determine whether a structured physician moderated primary preventive, hybrid genetic risk assessment enhanced counseling program leads to improvement in lifestyle and does not impair quality of life. Risk genes for malignant, cardiovascular, coagulation, storage diseases and pharmacogenetics (> 100 genes) were tested. Screening, consultation and genetic counseling embedded in a primary/secondary prevention check-up program for executives of surrounding companies took place in a single center in Germany. Follow-up included established questionnaires for quality of life, nutrition and physical activity. Analysis included n = 244 participants. Median age at baseline was 49 years (interquartile range: 44-55), 93% were male, 3% (n = 7 of 136 responses) were smoker. Mean body mass index was 25.2 kg/m. Follow-up response rate was 74% (n = 180), mean follow-up time was 6.8 months (standard deviation = 2.1). In 91 participants (37.8%, 91/241) at least one pathogenic variant was found, 60 thereof were clinically relevant (24.9%, 60/241). 238 participants (98%, 238/241) had > 1 pharmacogenetic variant, only 2 (0.8%, 2/241) took a correspondingly affected drug (56 participants took ≥ 1 drug/day). The energy expenditure significantly increased by ≈ 35% [median multiple of energy expenditure of 1.34 (confidence interval = 1.15-1.57, p < 0.001)] metabolic equivalents of task (MET)-min/week; participants spent on average 41 min (p < 0.001) less in sedentary activities per day and spent more time for lunch (≈ 2 additional minutes/day; p = 0.031). Indicators of the consumption of red meat and sweet pastries significantly decreased (both adjusted p = 0.049). Neither quality of life in general nor subgroup analysis of participants with at least one conspicuous genetic risk differed significantly over follow-up. Hybrid genetic testing and counseling exerted positive effects on health-related behavior and was not associated with major psychological adverse effects in the short-term follow-up. The approach seems to be feasible for use in preventive health care.
遗传风险分析越来越受到参与者的需求。与直接面向消费者的测试相比，混合基因测试具有优势，因为它涉及到一位医生，医生可以指导整个过程，并在收到结果后提供咨询。本研究的目的是确定结构化的医生主导的原发性预防、混合遗传风险评估增强咨询方案是否能改善生活方式，同时不会降低生活质量。检测了恶性疾病、心血管疾病、凝血、储存疾病和药物遗传学的风险基因（>100 个基因）。德国的一家单中心为周边公司的高管提供筛查、咨询和遗传咨询，纳入了初级/二级预防检查计划。随访包括生活质量、营养和体育活动的既定问卷。分析包括 244 名参与者。基线时的中位年龄为 49 岁（四分位间距：44-55），93%为男性，3%（n=136 个回复中的 7 个）为吸烟者。平均体重指数为 25.2kg/m。随访应答率为 74%（n=180），平均随访时间为 6.8 个月（标准差=2.1）。在 241 名参与者（91 名，37.8%，91/241）中发现了至少一个致病性变异，其中 60 个为临床相关变异（24.9%，60/241）。241 名参与者（98%，241/241）有>1 个药物遗传学变异，只有 2 名（0.8%，2/241）服用了受影响的药物（56 名参与者每天服用>1 种药物）。能量消耗显著增加了 ≈35%[中位数多重能量消耗 1.34（置信区间 1.15-1.57，p<0.001）]代谢当量/min/周；参与者每天平均减少 41 分钟（p<0.001）的久坐活动时间，每天多花 2 分钟吃午餐（p=0.031）。红肉类和甜糕点的摄入量明显减少（两者均调整 p=0.049）。在随访过程中，一般生活质量或至少有一个明显遗传风险的参与者亚组分析均未出现显著差异。混合基因测试和咨询在短期内对健康相关行为产生了积极影响，且与主要心理不良事件无关。这种方法似乎适用于预防保健。
