The Implementation of Clinical Genomics: Ethical, Societal and Regulatory Considerations.

Lyon, Gholson J., Robison, Reid J., Wang, Kai (2013) The Implementation of Clinical Genomics: Ethical, Societal and Regulatory Considerations. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (Unpublished)

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Abstract

As the cost of next-generation sequencing continues to decrease exponentially, it is becoming both affordable and relatively easy for laboratories outside of large-scale sequencing centers to perform exon capture and eventually whole genome sequencing in selected individuals. However, the current genomics system lacks a systematic way to deliver results to participants, even in matters of life and death, as we have discovered in some of our recent research1,2. There is substantial debate in the medical genetics and ethics communities concerning whether genomic data originating from research can or should be returned to participants or not, and, if so, under what conditions. The exponential increase in human genetic information is shining a spotlight on the problems with how researchers handle and process human genomic information. Specifically, researchers are largely unable to share the information that arises from their sequencing efforts with participants – without whom, the research wouldn’t be possible. At the moment, human genetics researchers operate in a totally unregulated environment, following their own protocols to obtain, store, track, and analyze DNA – creating many opportunities for samples to be mixed up, or other errors. Researchers take shortcuts to save time and money, given that most never expect (as did I) that their results might actually directly impact the unique life of another human being. Here, I present two real-world scenarios from our own research highlighting the issues involved (1,2). I am suggesting that we change the way we collect and process samples for human genetics research. I argue that we should create a formalized protocol akin to the rigorous process doctors and other healthcare workers go through during any clinical lab test, practically eliminating the chances of mistakes and mix-ups. An added benefit is that sharing the genomic data with research participants will allow them the opportunity to share their own data with other researchers and citizen scientists, thus allowing for potentially faster and easier replication of published results. We cannot forget the wise words of the late Charles Epstein, from his 2001 William Allan award lecture: “the operative word in ‘human genetics’ is ‘human.’ Human genetics is about human beings—about humanity and humaneness.” (3)

Item Type: Conference or Workshop Item (Poster)
Subjects: bioinformatics
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes
bioinformatics > genomics and proteomics > personal genomes
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes > personal genomes
CSHL Authors:
Communities: CSHL labs > Lyon lab
Depositing User: Matt Covey
Date Deposited: 11 Apr 2013 15:57
Last Modified: 11 Apr 2013 15:57
URI: http://repository.cshl.edu/id/eprint/28124

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