Whole genome sequencing and everyone [with video]

Increasingly people will have the option to learn more about their genetic makeup with new sequencing technologies. These strategies are really moving to the clinic now–and also to the general public in what has been called “recreational genomics”–so more people will be confronted with what to do about the data.

For some families there are huge benefits. In cases where a child has been suffering with some uncharacterized condition, sometimes sequencing can reveal novel mutations. These may (or may not) lead to treatment strategies. But even if they don’t give specific directions, families may be relieved to just know what the issue is, and can look for future options or contribute to discovery research.

Soon a profile of a person’s cancer cells may also reveal helpful information. If it can be determined that a tumor does or doesn’t have certain mutation, a cocktail of chemotherapy could be generated for that patient that could target the tumor with fewer side effects than the current blanket approaches.

There are ethical and legal issues to consider beyond just the basic science, and this struggle is really not resolved at this point. And these issues will vary by location. Some places have better laws for privacy, and better assurance of ongoing health care, than others.

This video gives a decent overview and introduction of the strategy of whole genome sequencing and its implications. It is aimed at the general public, and it’s great to see the outreach to folks beyond the early adopters as this opportunity really does get wider.

Over the weekend a piece was also published in Nature that could be a companion to this: Ethicists debate how to tell patients secrets in their genome . Ricki Lewis also wrote about the ASHG coverage of this topic: Direct-to-Consumer Genetic Testing: A New View. A paper about participant responses provides more of the details referenced in those posts as well, cited below. And a recent report by the Presidential Bioethics Commission also addressed some of the issues facing wider use of genomic information that was really quite well done.

Whole genome sequencing isn’t available for everyone yet, but it’s coming. And it’s time for everyone to start thinking through the details.

Cross-posted (with some new edits) from +ScienceSunday on Google+.

Hat tip to a tweet from @multiscalebio: Our new video “Whole Genome Sequencing and You” for a general audience with overview of the basics, benefits, and risks http://t.co/NbhbFI1N


Bloss, C., Schork, N., & Topol, E. (2011). Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk New England Journal of Medicine, 364 (6), 524-534 DOI: 10.1056/NEJMoa1011893

Presidential Commission for the Study of Bioethical Issues (2012). PRIVACY and PROGRESS in Whole Genome Sequencing Presidential Commission for the Study of Bioethical Issues. Report found here.

One thought on “Whole genome sequencing and everyone [with video]

  1. gsgs

    can’t we better rent a sequencing machine ,
    so others won’t have our data ?
    But then, we can’t keep it secret anyway,
    since relatives will publish theirs

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