Schwartz Alan L
The Harriet B. Spoehrer Professor and Chairman, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.
Rambam Maimonides Med J. 2011 Jul 31;2(3):e0053. doi: 10.5041/RMMJ.10053. Print 2011 Jul.
The effects of genomic medicine on child health promise to be profound. Medical applications will eventually include characterizing patients' genomes to detect predictive mutations for pre-symptomatic counseling where treatment exists; to search for causes of diseases of unknown etiology, and to detect carriers for prenatal counseling; to define cancer and other disease-based genomes to design individualized therapy; and to understand our microbiomes to modify these in health and disease. Rapid advances in technology and bioinformatics have reduced the cost and the time and increased the accuracy necessary to sequence whole genomes or whole exomes. However, complete understanding of disease will also require correlation of genomic information with high-quality phenotypic data. In addition, several critical ethical, psycho-social, and public policy issues will require clarity in the coming years. Ultimately these advances will improve the effectiveness of health care for children and for society.
基因组医学对儿童健康的影响有望是深远的。医学应用最终将包括对患者基因组进行特征分析,以检测存在治疗方法时用于症状前咨询的预测性突变;寻找病因不明疾病的病因,并检测用于产前咨询的携带者;定义基于癌症和其他疾病的基因组以设计个性化治疗;以及了解我们的微生物群,以便在健康和疾病状态下对其进行调节。技术和生物信息学的快速发展降低了全基因组或全外显子组测序的成本和时间,并提高了所需的准确性。然而,对疾病的全面理解还需要将基因组信息与高质量的表型数据相关联。此外,未来几年还需要明确几个关键的伦理、心理社会和公共政策问题。最终,这些进展将提高儿童和社会的医疗保健效果。