Department of Internal Medicine, Endocrinology Section, Clinical Centre of Montenegro.
Faculty of Medicine, University of Montenegro, Podgorica, Montenegro.
Curr Opin Cardiol. 2024 May 1;39(3):154-161. doi: 10.1097/HCO.0000000000001133. Epub 2024 Feb 29.
Genetic testing is increasingly becoming a common consideration in the clinical approach of dyslipidemia patients. Advances in research in last decade and increased recognition of genetics in biological pathways modulating blood lipid levels created a gap between theoretical knowledge and its applicability in clinical practice. Therefore, it is very important to define the clinical justification of genetic testing in dyslipidemia patients.
Clinical indications for genetic testing for most dyslipidemias are not precisely defined and there are no clearly established guideline recommendations. In patients with severe low-density lipoprotein cholesterol (LDL-C) levels, the genetic analysis can be used to guide diagnostic and therapeutic approach, while in severe hypertriglyceridemia (HTG), clinicians can rely on triglyceride level rather than a genotype along the treatment pathway. Genetic testing increases diagnostic accuracy and risk stratification, access and adherence to specialty therapies, and cost-effectiveness of cascade testing. A shared decision-making model between the provider and the patient is essential as patient values, preferences and clinical characteristics play a very strong role.
Genetic testing for lipid disorders is currently underutilized in clinical practice. However, it should be selectively used, according to the type of dyslipidemia and when the benefits overcome costs.
基因检测在血脂异常患者的临床处理中越来越受到重视。过去十年中，研究的进展和对调节血脂水平的生物学途径的遗传学认识的提高，使得理论知识与其在临床实践中的应用之间存在差距。因此，明确血脂异常患者基因检测的临床适应证非常重要。
大多数血脂异常的基因检测临床适应证尚未明确界定，也没有明确的指南推荐。在严重低密度脂蛋白胆固醇（LDL-C）水平的患者中，基因分析可用于指导诊断和治疗方法，而在严重高甘油三酯血症（HTG）中，临床医生可以根据治疗途径中的甘油三酯水平而非基因型进行治疗。基因检测可提高诊断准确性和风险分层、获得和坚持专科治疗的机会，以及级联检测的成本效益。提供者和患者之间的共同决策模型至关重要，因为患者的价值观、偏好和临床特征起着非常重要的作用。
目前，基因检测在血脂异常的临床实践中应用不足。然而，它应该根据血脂异常的类型以及获益是否超过成本进行有选择地应用。
