Superheroes headlines; not entirely a media hype

Recent headlines have been dominated by superheroes. The articles refer to a new scientific breakthrough that has identified “13 genetic superheroes” walking among us who can do nothing less than save the world as suggested by The Guardian. The Daily Mail also mentions in the title the “superhero” but allude to the main issue of the study adding a question “Are YOU a genetic ‘superhero’? Doctors discover 13 people who are resistant to severe inherited diseases – and there may be more”. Similarly The Independent talks about the Superheroes and further reveal we actually do not know who they are: “Genetic superheroes’ are real and could lead to life-saving treatments – but nobody can talk to them”.

These articles cover a study led by Stephen Friend based at Icahn School of Medicine at Mount Sinai, New York that describes the results of the Resilience project published in Nature Biotechnology, a prestigious scientific journal but also an unusual place in which to report human genetics findings. You can hear about this project at this TED talk in Friend’s own words.

The study has screened the genome of almost 590,000 people. While most genetic studies are aimed at identifying mutations that cause diseases, this particular project was looking for the unexpected. After several layers of filtering and quality checks, Friend and colleagues found 13 individuals who carry mutations expected to cause severe diseases, but who were inexplicably healthy. Similar mutations, which are rare, have been known to cause diseases such as cystic fibrosis or atelosteogenesis, a severe bone and cartilage disorder leading to stillborn babies. The most probable explanation is that these individuals have somehow been protected from the deleterious effects of these mutations by other factors, most likely by “buffer genes”, to use the expression of an opinion piece in Science, a prestigious scientific journal, that also covered this story in their News section.

The main hypothesis is that other genetic variants might protect against these deleterious mutations. This is potentially very exciting because by studying these individuals we could develop novel strategies to tackle severe and lethal diseases. So what are the caveats? Well, first of all we do not know and have no way to track down who these individuals are, which would be essential to follow up the results. Daniel MacArthur, Assistant Professor at Harvard Medical School, and leader of a large-scale effort to map genetic variants that contribute to human diseases provides a very insightful interpretation of the results and explains how they could potentially take us forward. MacArthur explains that super-healthy people rarely enter in-depth genome screenings so we might not have enough data to reach strong conclusions. Moreover, most of the individuals analysed by Friend had only a fraction of their genome analysed using a technology that assesses common genetic variants (as opposed to rare and damaging mutations) and therefore is missing lots of important information and potentially missing out on other superheroes.

This technology is used also by the direct-to-consumer genetic testing offered by 23andMe, which we have discussed before in a Research the Headlines blog post. In fact, a proportion of study participants were derived from the 23andMe database (could one of the superheroes be me? Probably not, from what I could see browsing my data). MacArthur further explains that lack of consent prevents contacting individuals again and to be able to conduct further clinical assessments. The question whether any disease status was not disclosed cannot be ruled out either. On the other hand, the Resilience study, the first of this kind, demonstrates how such large-scale genomic projects might lead to very important paradigm-shift findings. If we had consent and if these individuals were indeed healthy the analysis of their genome could than reveal ground-breaking mechanisms which could turn into life-saving factors. The study shows that to be fully successful  two important factors are required: 1) global international commitment in data sharing among researchers and 2) cultural changes encouraging participants to provide consent for their data to be used in research. As discussed before in my piece about 23andMe: we should not be scared about our own genomic data.

Most articles did a good job in describing these caveats in their reporting, so while the headlines were, as we often see, quite sensational and focused on the superheroes concept, the article contents were quite good and included quotes from MacArthur to explain some of the limitations of the study.

Also, it has to be said that the superhero meme was not initiated by the media but it is terminology directly taken from the Resilience project’s invitation to contribute to their effort “Join the Search.  Be a Hero”. The headlines were obviously catchy but I think had the effect to force the reader to actually go through the entire article to understand what the story was about. One of our golden rules is “don’t stop at the headline”. This obviously applies to the cases where the headlines give a definitive message which quite often doesn’t reflect the actual article content as we saw for “C-sections cause autism” or “red meat causes cancer”. The latter are the headlines that we regularly criticise as they can easily be misinterpreted and do not reflect the actual results that usually report very small risk increases, far from justifying alarmism or life-style changes. In the case of the genetic superheroes it was not possible to stop at the headlines to understand what the story is about. I think the sensational effect was actually quite good in getting people to read and learn about large and complex genetic studies.

Who knows, maybe more people will be more willing to take part in genetic research after reading these stories? As MacArthur says this is the kind of heroism we need to progress in this field.

Chen R. et al. (2016). Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nature Biotechnology. DOI: 110.1038/nbt.3514