Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, China; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, China.
Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, China.
Diabetes Res Clin Pract. 2022 Jul;189:109969. doi: 10.1016/j.diabres.2022.109969. Epub 2022 Jun 18.
We evaluated the effect of personalized risk counseling incorporating clinical and genetic risk factors on patient empowerment and risk factor control in diabetes.
Patients with type 2 diabetes (T2D) with suboptimal glycaemic control (HbA1c ≥ 7.5%) were randomized to a genetic counselling (GC) or control group. All patients underwent genetic testing for alleles at three loci associated with diabetic complications. The GC group received additional explanation of the joint associations of genetic and modifiable risk factors on risk of complications. All patients were reassessed at 12 months including validated questionnaires for patient reported outcomes. The primary outcome was proportion of patients reaching ≥ 3 of 5 predefined treatment targets (HbA1c < 7%, BP < 130/80 mmHg, LDL-C < 2.6 mmol/L, Triglyceride < 2.0 mmol/L, use of renin-angiotensin system inhibitors). Secondary outcomes included new-onset chronic kidney disease or microalbuminuria and patient reported outcome measures.
A total of 435 patients were randomized and 420 patients were included in the modified intention-to-treat analysis. At 12 months, the proportion of patients who attained ≥ 3 targets increased from 41.6% to 52.3% in the GC group (p = 0.007) versus 49.5% to 62.6% in the control group (p = 0.003), without between-group difference. Both groups had similar reduction in HbA1c, LDL-C and increased use of medications. In per protocol analysis, the GC group had higher diabetes empowerment, with reduced diabetes distress. In the GC group, the greatest improvement in positive attitude and self-care activities was observed in the intermediate to high genetic risk score (GRS) groups.
In patients with T2D receiving integrated care, additional counselling on genetic risk of complications did not further improve risk factor control, although the improvement in self-efficacy warrants long-term evaluation.
我们评估了将临床和遗传风险因素纳入个体化风险咨询对糖尿病患者赋权和危险因素控制的影响。
将血糖控制不佳（HbA1c≥7.5%）的 2 型糖尿病（T2D）患者随机分为基因咨询（GC）组或对照组。所有患者均接受与糖尿病并发症相关的三个基因座等位基因的基因检测。GC 组接受了关于遗传和可改变危险因素对并发症风险的联合关联的额外解释。所有患者在 12 个月时进行了重新评估，包括验证过的患者报告结果问卷。主要结局是达到≥5 个预先设定的治疗目标中的 3 个的患者比例（HbA1c<7%、BP<130/80mmHg、LDL-C<2.6mmol/L、甘油三酯<2.0mmol/L、使用肾素-血管紧张素系统抑制剂）。次要结局包括新发慢性肾脏病或微量白蛋白尿和患者报告的结果测量。
共有 435 名患者被随机分配，420 名患者被纳入意向治疗的改良分析。在 12 个月时，GC 组达到≥3 个目标的患者比例从 41.6%增加到 52.3%（p=0.007），而对照组从 49.5%增加到 62.6%（p=0.003），两组之间无差异。两组的 HbA1c、LDL-C 均有相似程度的降低，且药物使用量增加。在符合方案分析中，GC 组的糖尿病赋权更高，糖尿病困扰减少。在 GC 组中，在中到高遗传风险评分（GRS）组中观察到积极态度和自我护理活动的最大改善。
在接受综合护理的 T2D 患者中，额外的并发症遗传风险咨询并未进一步改善危险因素控制，尽管自我效能的提高需要长期评估。
