This article was originally published in the Cambridge News Business Magazine, June 2017 issue.
Genome sequencing has now become almost ubiquitous in clinical research and soon will be in personal health treatment. Yet translating its research benefits into actionable outcomes remains challenging. Despite hurdles, myself and my family embarked into the quest of understanding our personal genomes to the greatest extent possible. Myself, my Mum, Dad, Sister and Aunt (Mum’s sister) (Figure 1) decided to carry out a number of genetic tests and put our personal genetic data and results in the public domain for anyone to download. This ‘unheard of’ action was our tactic to increase the chances of knowing the most about our own personal genomes. No single genome interpretation service is able to provide a complete picture of what is known, so we figured that if we get as many scientists as possible to analyse our genomes, we will have the most complete understanding possible. At the time when we initiated this process in 2009, there was very little open access genome data and less so from a whole family; having the genomes of a family is more useful for research because we can learn how traits were inherited.
By making our genomes available in the most open way possible, scientists and companies alike were able to use our family genetic data for their studies and not have to worry about permission issues. The data was thus on the web and its users would not be liable for any usage they made of it. We did request, however, that if users did find anything interesting, we would appreciate if they fed us their results. This led to an unexpected response from more than 20 scientists and 7 companies from around the world. The results of the combined analyses were compiled into a publication that came out in the BMC Genomics journal (1). This was one of the most influential articles the journal published in 2015.
What did we find? We were able to learn that there is some cardiovascular risk coming from the maternal line. Also, my Aunt and Mum are red hair carriers, which for people of Spanish origin is rather unusual. This explained why my three kids have been born with red hair even though my hair is black (well, getting a bit greyish these days). We were also able to learn that, genetically, I am equally similar to my Mum as my Dad, whereas my Sister is 0.2% more similar to my Dad than my Mum, a difference we found significant. Other than confirming that my family all seem to be in relatively good ‘genetic’ health, results suggested me having a 30% chance to suffer from prostate cancer during my lifetime, but no clear way of how to deal with this risk. One of our most worrying concerns from the compilation of all the different interpretation services was that they all provided very different results. We were not able to understand whether these differences were happening because the different interpretation services were offering results using different methods or they were just plainly wrong. The hope is that, as the understanding of our genome improves and interpretation services become more accessible to the general public, we will be able to learn a lot more about our personal genomes and likely outcomes that could significantly affect our health.
Genetic risk predictions can influence not only the way doctors diagnose but even how people live their life styles, such as who to marry to have children or what type of job to choose for greater success. In a world such as ours, where use can easily be transformed into abuse, a major challenge will be to strike a fair balance between the individual’s right to privacy and to ensure that the valuable results of patient genetic data are not used to discriminate. There are currently two extreme positions on how to solve this dilemma: on the one hand, there are those who claim that the right to privacy must be maintained at all costs, restricting access to personal genetic data as much as possible. The ethical problem with this decision is that sharing personal clinical data is beneficial for the generation of knowledge, since it allows the identification of the effect of genetic variations on the individual. On the other hand, there are those for whom access to genetic information should be allowed without any obstacles, regardless of the risks that this may entail for the protection of the person’s privacy.
Controlled access to genomic data in the research environment has already provided mechanisms to protect the consent framework for sharing genome data from the individual. These protocols should be applied to personal genetic data, protecting people from disguised discrimination. It is thus imperative that the public now becomes aware of the potential ethical, legal, and social challenges that genomics could bring about to health systems and associated health insurance costs. We are all endowed with our own personal genome; what affects us genetically also affects our health and our lives. How this knowledge affects treatment management should not be guided by the interest of for-profit institutions. Let’s keep it that way in the future.
- Corpas M, Valdivia-Granda W, Torres N, Greshake B, Coletta A, Knaus A, et al. Crowdsourced direct-to-consumer genomic analysis of a family quartet. BMC Genomics. BioMed Central; 2015;16: 910.
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