Grody W W
Department of Pathology and Laboratory Medicine, UCLA School of Medicine 90024-1732.
Arch Pathol Lab Med. 1993 May;117(5):470-2.
While sharing the same techniques as the field at large, diagnostic molecular genetics is unique among the subdisciplines of molecular pathology in many of its aspects, from sample collection to ethical implications of the test results obtained. Yet, despite its many challenges, this branch of DNA diagnostics has already pervaded the practice of medical genetics to an extent unmatched in any other clinical specialty. Genetic disease also presents the most immediately obvious opportunities for extension from DNA-based diagnosis to DNA-based therapy.
虽然诊断分子遗传学与整个领域采用相同的技术,但在分子病理学的各个子学科中,从样本采集到所获检测结果的伦理影响等诸多方面,它都独具特色。然而,尽管面临诸多挑战,DNA诊断的这一分支已经渗透到医学遗传学实践中,其程度是其他任何临床专科都无法比拟的。遗传疾病也为从基于DNA的诊断扩展到基于DNA的治疗提供了最直接明显的机会。