Whole-Genome Sequencing in Healthy People

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• 作者：Noralane M. Lindor ; MD^a ; ^{nlindor@mayo.edu} ; Stephen N. Thibodeau ; PhD^b ; Wylie Burke ; MD ; PhD^c
• 关键词：ACMGG ; American College of Medical Genetics and Genomics ; EMR ; electronic medical record ; GWAS ; genome-wide association study ; HGP ; Human Genome Project ; SNP ; single-nucleotide polymorphism ; WES ; whole-exome sequencing ; WGS ; whole-genome sequencing ; VUS ; variant of unknown significance
• 刊名：Mayo Clinic Proceedings
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：92
• 期：1
• 页码：159-172
• 全文大小：466 K
• 卷排序：92

文摘

Recent technological advances have radically changed genetic testing from an expensive and burdensome undertaking to a rapid and less costly option for many purposes. The utility of “next-generation” sequencing has been found to establish the diagnosis for hundreds of genetic disorders, to assess pharmacogenomic variants, and to identify treatable targets within malignant neoplasms. The ready availability of genomic information has led to the question of whether there would be clinical benefit of sequencing the genome of individuals who are not seeking a diagnosis, that is, genomic screening in generally healthy people, to provide anticipatory insights for their health care. Little research has been conducted in this area. We examine the considerable unresolved scientific and ethical issues encountered when considering whole-genome sequencing of healthy people.