This web page was produced as an assignment for an undergraduate course at Davidson College.

Assignment #1

Relating Icelanders' Population Diversity to Genomic Variation

Image courtesy of Wikimedia Commons.

A recent article by the BBC highlights the work of researchers conducting a discovery research project where they sequenced the full genomes of over 2,000 Icelanders. This article details how the data were used to to date the last common ancestor of man, but the original article (Gudbjartsson et al.,2015) does not mention this purpose of the study.  While it was an interesting article, it did not do the science justice because instead of explaining the significance of the original study, it used the study as a starting point to talk about the popular topics within genomics. The research in the original article, which was linked within the text of the BBC article, was conducted to understand how genomic variation relates to diversity. This purpose was not effectively communicated to general audiences in the BBC article.

Though the BBC article did not specify which sequencing technologies were used in Gudbjartsson et al.'s research, the original journal article notes that the team used Illumina technology, which is the current standard sequencing technology. An interesting commercial effort the news article did describe, however, was deCODE Genetics' work to combine the genome sequence of 10,000 people with nation-wide family trees in hopes of creating a better method for disease prediction. BBC news mentions that the information gathered from the original research by Gudbjartsson et al. and from deCODE Genetics could be analyzed to find common mutations, like BRCA2, and help decrease the risk associated with such genes through preventive mastectomies and ovariectomies. Later in the BBC article, a physician is quoted warning of the potential overuse of genomic data to perform these serious procedures, since certain mutations to BRCA increase risk of cancer much more than others. The original research, however, does not mention anything about the data's potential use for prescribing surgeries to prevent cancer. This shows how original science can be reported in popular sources with conclusions beyond the scope of the original paper's scope. 

Sanger Sequencing Chromatogram. The top panel is sequence that contains a wild type allele, the middle panel contains the heterozygous allele, and the bottom panel contains the homozygous recessive allele.
Image courtesy of Wikimedia Commons.

Another difference between the original journal article and the BBC news article was their take home messages. The BBC news article skimmed over the research done by Gudbjartsson et al. and quickly mentioned other efforts to use genomic data to diagnose, treat, and prevent disease, but it did not mention that these efforts were never outlined in the journal article. Instead, it pulled in popular stories like Angelina Jolie's news that she has a BRCA mutation and quotes from researchers and physicians. On the other hand, the journal article focuses on how the results of the study will help future research evaluate how sequence variations give rise to phenotypic differences.

It is evident that the BBC news article detailing the work of Gudbjartsson et al. means to attract readers rather than effectively communicate the purpose of the study. Though they touch on the implications that this study could have, they mention more of what their readers might want to hear (how this technology might be able to identify dangerous mutations) than what the study was specifically looking at: how variation in the genome relates to diversity of a population. While the BBC does provide a link to the original article, it could do a much better job at highlighting the true purpose of the Gudbjartsson et al. study.

Gallagher, J. (2015). DNA of “an entire nation” assessed. BBC News.

Gudbjartsson, D.F., Sulem, P., Helgason, H., Gylfason, A., Gudjonsson, S.A., Zink, F., Oddson, A., Magnusson, G., Halldorsson, B.V., Hjartarson, E., et al. (2015). Sequence variants from whole genome sequencing a large group of Icelanders. Sci Data 2, 150011.

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