Points to Consider in the Transition Toward Whole-Genome Sequencing in Human Subjects Research
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چکیده
When the field of genomics was in its infancy, the cost to sequence a single human genome was approximately $1 billion. Sequencing technology has become progressively more efficient and less expensive in recent years, and the vision of a $1,000 whole genome sequence soon will be a reality. An increasing number of research protocols are proposing to utilize whole-exome and whole-genome sequencing (WES/WGS), which are powerful new research tools to help identify the genetic variants/mutations responsible for a broad range of Mendelian disorders and complex genetic phenotypes. Traditional genetic research (i.e., candidate gene approaches) began with the study of single, relatively short segments of DNA and a single associated disease, giving rise to a range of ethical concerns. Research involving WES/WGS, while not necessarily raising novel ethical concerns, has amplified existing ones: theoretical concerns now are real, and previously uncommon situations are much more likely to occur. In large part, this is because WES/WGS represents a significant increase in the amount of data being gathered; WES/WGS research generates an extremely large volume of sequence data from at least all of the coding regions of genes, up to the majority of the genome. Accordingly, researchers are faced with an expanded set of ethical challenges related to the use of WES/WGS.
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