Bird T D, Bennett R L
Neurology Service, VA Medical Center, Seattle, WA 98108, USA.
Ann Neurol. 1995 Aug;38(2):141-6. doi: 10.1002/ana.410380204.
Direct DNA tests for mutations in neurogenetic disorders are establishing a new era in diagnostic neurology. These highly accurate and specific tests will greatly improve diagnosis and genetic counseling, lead to more accurate assessment of prognosis, and reduce the cost of diagnostic evaluations. However, the use and interpretation of the tests can be complicated, and there are numerous social, psychological, and ethical implications of the testing that need to be recognized and anticipated. To provide the best care for our patients, neurologists need to understand the benefits and risks of this testing and properly apply it in the context of each individual clinical situation.
针对神经遗传性疾病突变的直接DNA检测正在开创诊断神经病学的新时代。这些高度准确和特异的检测将极大地改善诊断和遗传咨询,实现对预后更准确的评估,并降低诊断评估的成本。然而,这些检测的使用和解读可能很复杂,并且检测存在众多社会、心理和伦理方面的影响,需要加以认识和预见。为了给我们的患者提供最佳治疗,神经科医生需要了解这种检测的益处和风险,并在每个具体临床情况下正确应用。