By Dr Katja Rybakova, Research Assistant, Applied Research for Connected Health

The first human genome ever sequenced cost around US$100 million and took almost a year to complete [1]. By 2016 the cost had fallen to below US$1500 and the time taken to complete it cut to about a day [2] – this trajectory is expected to continue in the future. As sequencing becomes more affordable, more and more people will choose to have their genome sequenced by medical and research institutions as well as private companies, be it for medical purposes, out of curiosity about their ancestors or to help medical research. According to the president of Illumina, the maker of DNA sequencing machines, more than around 1.6 million genomes are projected to be sequenced by the end of 2017 [3].

Genomic Data Blog

“As sequencing becomes more affordable, more and more people will choose to have their genome sequenced by medical and research institutions as well as private companies, be it for medical purposes, out of curiosity about their ancestors or to help medical research.”

The genomics revolution promises great advancements both in science and medicine. Having one’s own genome sequenced is the first step towards personalised medicine, which could allow the prediction of individual disease risk profiles, responses to drugs and testing the genetic compatibility of couples [4]. Examining large genomic datasets will allow scientists to improve the understanding of links between the genes and diseases, and accelerate the search for new cures.

That’s the good news. The bad news is that the widespread use of sequencing raises serious concerns about genomic ownership and privacy. After all, one’s genome contains a huge amount of information about the person and as scientific discoveries progress, more and more of this information will become accessible. While so far the evidence of genetic discrimination remains anecdotal, it is not hard to imagine a world in which someone’s genetic make-up may profoundly affect one’s job prospects, insurance rates and even chances of procreation. The problem is complicated by the fact that a persons genome also contains information about their relatives’ genetic make-up. Unlike other personal data, the genome itself contains information that is potentially sufficient to identify the individual (Human Longevity Inc., for example, claims it can reconstruct the facial features from genomic data [5]), so the traditional privacy protection measures such as anonymisation and aggregation are likely to become insufficient.

“..it is not hard to imagine a world in which someone’s genetic make-up may profoundly affect one’s job prospects, insurance rates and even chances of procreation.”

These are all good reasons for a person to be able to claim ownership of their genetic data. But how much control do you realistically have over how your genetic data is used or shared at the moment? Not a whole lot, it would appear, either in research or commercial settings. For instance, the current standard practice for genetics research is not to provide the genomic data to individual donors, even though such data will be freely available to a large number of people through genomic databases [6]. In a recent controversy a team of researchers from the European Molecular Biology Laboratory publicly shared the genome of a cell line derived from cancer patient Henrietta Lacks in the 1950s without obtaining consent from the surviving family [7]. Myriad, a US-based company performing cancer susceptibility genetic testing has refused to share the primary data with two customers who wanted to donate it for research purposes [8]. While personal genomic companies like 23andMe and Ancestry.com provide customers an option to access their data, they also sell the data to third parties such as pharmaceutical companies [9], which may not have been the customers original intent.

While things do not look promising for genetic privacy at the moment, solutions to the problem – both legal and technological – are being developed. A legislation that prohibits discrimination by employers and insurance companies on the basis of genetic data has been passed in the USA [10] and in many European countries. While genome ownership is not established by law, new personal genomic companies such as Sure Genomics try to address it by promising its customers full control of their genomic data [11]. A start-up company Guardiome goes as far as providing an offline device for the storage of genomic data [12]. A group of scientists from California have developed cryptographic protocols that will allow for privacy-preserving testing of whole human genome sequences which could be used by researchers in the future [13].

Developments in the area of genetic privacy will depend to a large extent on how people perceive the issue. A study conducted by PeopleSeq project amongst the participants of several sequencing programs found that approximately 60% of respondents were very comfortable with the idea of sharing their genetic data [14]. So it is not inconceivable that in the future some people will be happy to post their genome on the web while others may prefer to keep it safe on an offline device.

Only the future will tell.

References:

  1. https://www.technologyreview.com/s/601842/inside-genomics-pioneer-craig-venters-latest-production/
  2. http://www.nature.com/news/is-the-1-000-genome-for-real-1.14530
  3. https://www.technologyreview.com/s/531091/emtech-illumina-says-228000-human-genomes-will-be-sequenced-this-year/
  4. https://arxiv.org/pdf/1210.4820v5.pdf
  5. https://www.ted.com/talks/riccardo_sabatini_how_to_read_the_genome_and_build_a_human_being
  6. http://www.nature.com/news/geneticists-should-offer-data-to-participants-1.20915
  7. http://www.nature.com/news/hela-publication-brews-bioethical-storm-1.12689
  8. http://www.nature.com/news/myriad-genetics-embroiled-in-breast-cancer-data-fight-again-1.19953
  9. https://dna-explained.com/2015/12/30/23andme-ancestry-and-selling-your-dna-information/
  10. https://www.genome.gov/10002328/
  11. http://www.theverge.com/2016/2/9/10948940/sure-genomics-disease-risk-full-genome-sequencing-privacy-fda
  12. http://www.guardiome.com/home
  13. https://arxiv.org/pdf/1110.2478.pdf
  14. https://www.wsj.com/articles/why-knowing-your-genetic-data-can-be-a-tricky-proposition-1466993160

 

You can contact Katja on ekaterina.rybakova@ucd.ie. Check out our website for more information about Katja’s research interests.

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