Heading into the Festival of Genomics 2017, I had very carefully planned which talks I was going to attend, making sure I would catch all the big names in research and healthcare. As I was scanning the timetable, a talk caught my eye titled ‘A family experience with open-access personal genomics’. As someone interested in how genomics is being increasingly used and not always understood, in both the NHS and private healthcare, I headed over to listen. Manuel Corpas’ talk ended up being one of my conference highlights, as he presented a fascinating story which might demonstrate how we use our genomic data in the future, as well as highlighting some existing issues with using these services.



Corpas is Scientific Lead at Repositive, an online platform with the aim to connect data providers and data users. He has a PhD in Computer Science and previously worked at The Genomic Analysis Centre on Next Generation Sequencing data analysis (more information here).  However, his talk at the Festival of Genomics focused on a much more personal project: how he released his family’s genomes onto the internet and Crowdsourced for scientists to contribute to the analysis. His project has provided some interesting lessons in the use of Direct-To-Consumer (DTC) genetic tests and how collaboration and data-sharing from customers seeking out interpretations of results can allow people to learn more about their genomes without having to contact a healthcare professional.

Corpas has published several papers on the creation of the ‘Corpasome’, which involved collecting genetic samples from himself and 4 family members using 23andMe (Glusman et al, 2012). 23andMe is just one example of Direct-To-Consumer (DTC) genetic testing, where individuals are able to pay for a saliva collection kit, spit into a tube, and receive information about their genes without having to contact a clinician. Other examples can be found, with varying price tags, and many contributed to the analyses of Corpas’ data.

3D-representation-of-DNA--001Manuel Corpas released his family’s genomes onto the internet and Crowdsourced for scientists to contribute to the analysis.

Corpas found that results varied across different sources of analyses. For example, one company reported that all family members shared two traits: a genetic variant associated with increased resistance to the common strain of HIV, and the variant for wet type earwax (I was not aware of how specific these tests could be!). However, using the same data, a separate company reported no shared traits across family members (Corpas 2015).

In other research, comparisons between 3 separate companies found that results from analysis were over 99% similar (Imai et al, 2011). However, there were differences in the relative risk associated with diseases, suggesting that that issues with DTC testing come from variations in interpreting results. This highlights that the consistency between DTC companies may not be high and that depending on which company you choose, your ‘risks’ could vary. Corpas recommends that DTC customers take ‘extreme caution’ in interpreting results and highlights that although DTC companies state that results should not be used for diagnostic purposes, users are still exposed to information suggesting the health benefits of this kind of testing.

I couldn’t help but worry about the process of DTC genetic testing for those without a scientist/genetic counsellor to interpret the wealth of information that can now be generated. Working on the NIHR BRC BioResource project, where we collect DNA samples to create a genetic ‘library’ for research, I regularly speak to members of the public who aren’t familiar with genetics, and who have concerns about how their data will be used and what different results might mean.

Whilst being able to download and view your genetic information from the comfort of your own home might allow more people to access information about their health and ancestry, this information can come with many caveats that need clarification from professionals. Corpas notes these types of issues when including his family members in the analysis. Although he felt comfortable approaching the information from a scientific perspective, he had to communicate information about his family’s genomes in a way that wouldn’t cause any harm or distress (Corpas, 2012). Having some support in the form of genetic counselling, or even just talking to a professional over the phone, may have made it easier for Corpas to deliver these results. Anna Middleton, a genetic counsellor, suggests that as well as debating whether professional support should be available to DTC customers, guidance on how customers should communicate this information to their families is also important (Middleton, 2012).

legoWhile the technology rapidly develops, and as genetic testing becomes more accessible to the general population and more data is generated, we may soon find more consistent results in the interpretation of the data.

So, for now, I think I will wait and see how DTC testing develops before I decide to Crowdsource analysis of my own genetic data. This is because I would worry about the accuracy of the disease risks I might be receiving, and the possible lack of support available for understanding my data. However, the idea that collaborative research across companies could lead to a greater understanding of our genomes is really exciting and something to keep an eye on in the future. While the technology rapidly develops, and as genetic testing becomes more accessible to the general population and more data is generated, we may soon find more consistent results in the interpretation of the data. It is looking like DTC testing might be a common way of finding out more about you, your family and your earwax!

P.S This blog post could have been 10 times longer, there is so much information out there around DTC and customer support. It would be great to hear your thoughts!



Corpas, M. (2012). A Family Experience of Personal Genomics. Journal Of Genetic Counseling, 21(3), 386-391. http://dx.doi.org/10.1007/s10897-011-9473-7

Corpas, M., Valdivia-Granda, W., Torres, N., Greshake, B., Coletta, A., & Knaus, A. et al. (2015). Crowdsourced direct-to-consumer genomic analysis of a family quartet. BMC Genomics, 16(1). http://dx.doi.org/10.1186/s12864-015-1973-7

Glusman, G., Cariaso, M., Jimenez, R., Swan, D., Greshake, B., & Bhak, J. et al. (2012). Low budget analysis of Direct-To-Consumer genomic testing familial data. F1000research. http://dx.doi.org/10.12688/f1000research.1-3.v1

Imai, K., Kricka, L., & Fortina, P. (2010). Concordance Study of 3 Direct-to-Consumer Genetic-Testing Services. Clinical Chemistry, 57(3), 518-521. http://dx.doi.org/10.1373/clinchem.2010.158220

Middleton, A. (2012). Communication about DTC Testing: Commentary on a ‘Family Experience of Personal Genomics’. Journal Of Genetic Counseling, 21(3), 392-398. http://dx.doi.org/10.1007/s10897-011-9472-8

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