Making human genetics great again by being strongly together

nichollsStuart Nicholls is a Clinical Investigator and Methodologist at the Children’s Hospital of Eastern Ontario Research Institute and Methodologist at the Ontario Child Health Support Unit (OCHSU). He recently attended the 66th Annual meeting of the American Society of Human Genetics (ASHG) in Vancouver


The ASHG annual meeting takes place every fall towards the end of October or in early November, as the leaves are changing from green to reds and golds. Every four years the meeting also takes place against the backdrop of the US presidential elections. In 2012, in San Francisco, when the meeting ran from the 6th to the 10th of November, I recall standing in the main hall as part of the opening ‘mixer’ event, where several thousand scientists watched a big screen projection as President Obama was re-elected to office.

This year's meeting, which ran from the 18th to the 22nd of October, took place against the backdrop of a very different election, and it coincided with the third and final debate between the Democratic and Republican presidential candidates. Indeed, my take-away thoughts of the conference reflect many of the themes of this election: diversity, integration and transparency, for example. Thankfully the conference reflected a much more positive note on these topics.

Hal Dietz, in his presidential address, pulled no punches, playing on the campaign slogans with his title: “Let's Make Human Genetics Great (Again): The Importance of Beauty in Science.” He noted the fact that participants came from 66 different countries across the world (although it should be noted that there still remain regions from which there is no representation).

Issues of diversity have dominated the US presidential election campaign, and it was also a theme of the ASHG conference. Much discussion related to diversity of data types from phenotypic data, biomarker data, and genomic data, and how these data can be integrated to improve our understanding of health and disease. Gaurav Kaushik talked about the NCI Cancer Genomics Cloud and their work to bring over 1 petabyte of data into the cloud (for those who are unsure, 1 petabyte (PB) = 1000000000000000 bytes = 1015bytes = 1000 terabytes), along with tools to analyze the data. Yet it was acknowledged that for all the studies that are conducted, there remains an under-representation of some populations – a topic that received recent press coverage.

Transparency and openness have also been front-of-mind during the current election campaign – be it with respect to taxes or emails. So, too, an understated - yet widely supported - theme of the ASHG conference was transparency and openness with data and research results. An aspect that was completely unanticipated on my part was the prominence of the pre-print server bioRxiv. Many presenters indicated that their work was available through bioRxiv, and it seemed that the use of pre-prints and sharing of data has been largely embraced by this research community. An exemplar of this attitude was Daniel MacArthur of the Broad Institute, who announced the public release of the Genome Aggregation Database (gnomAD) at the ASHG conference. This dataset aggregates genome and exome data from international teams and brings together a whopping 126,216 exome sequences and 15,136 whole-genome sequences from unrelated individuals sequenced as part of various disease-specific and population genetic studies. This includes support from projects such as the Génome Québec - Genizon Biobank, Quebec IBD Genetics Consortium, and the Ottawa Genomics Heart Study.   Importantly, the data “are released for the benefit of the wider biomedical community, without restriction on use.”

However, and again perhaps somewhat reflecting the current election campaign, some of the bigger ethical and policy issues received little coverage at this year's conference. Given recent media coverage, a topic of discussion was CRISPR (the technology that provides the ability to edit the human genome) [side note – Hollywood already has got hold of the idea with Jennifer Lopez apparently due to produce a bio-terror show called C.R.I.S.P.R.]. Yet sessions on CRISPR were focused on its technology and application, with little discussion of ethical or policy implications. Equally, given the ongoing legislative moves in Canada regarding the development of a genetic non-discrimination Act (itself supported by the ASHG, as well as an advocacy award for Senator Cowan who championed the Bill), there was little discussion of legislation governing genomics.

One area that received some discussion, but could have used further exploration, was forthcoming changes to the ‘common rule’ – the American federal policy that provides for human subjects protections in research. Michelle Meyer, Associate Director, Research Ethics, in the Center for Translational Bioethics and Health Care Policy at Geisinger Health System, provided an excellent overview of proposed changes that will bring biological samples, even those that are de-identified, within the purview of human subjects’ research. This has potential implications for many aspects of genetics research, including stipulations for obtaining consent, and this topic alone would have benefitted from a range of discussants including researchers and policy-makers.

Despite this, the poster presentations did include a number of ethics topics. The ASHG annual meeting was open and inspiring. Moreover, the organization, setting, and – importantly - WiFi, were great. On leaving the meeting, my overwhelming feeling was that the (academic) genetics community is one that is collegial, open, and 'strongly together'.

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