Personal Genome Data: to share or not to share

I have been meaning to write this post for a long time, and took the chance over the Christmas break to put pen to paper.

A conversation topic that often comes up when chatting to friends, family and people in general about my work is the concept of 'personal genome sequencing', or as people often now say 'getting your 23andMe1 done'.

When it does come up, I inevitably find myself asking people "would you get your genome sequenced?", "why?" and, of course, "would you share the data online?". In this post I want to share some insights I have found from chatting to different people about getting their genomes sequenced and sharing that data online.


Would you get your genome sequenced?

Seriously, would you?

I know a lot of people who have had their genomes sequenced: within our office Manny and Amanda have, my best friend's brother has, my cousin has, and even my Grandmother has!! And yet, when I am asked if I would get my genome sequenced, I answer no - I'm still not convinced. It's a cost benefit thing for me, and (many people may disagree with me) I don't think we, as a society, understand all of the costs or all of the benefits yet.

Nevertheless, I concede that without people going out and getting their genomes sequenced, and sharing the data for that matter, we will never get any closer to understanding those costs and benefits. So all credit given to those individuals.

What I've found is that the people who get their genomes sequenced generally fall into three broad categories: The Educated, The Uneducated & The Pioneers. Members of these groups have very different reasons for why they 'got sequenced', opinions on the risks & benefits and understandings of what 'sharing your data' actually means.



Group 1 - The Educated

(this includes my colleagues)

  • Those who have done a huge amount of research.
  • Know as many of the costs and benefits as is possible at this point in time.
  • Are passionate about genomics.

1. Why did you choose to get your personal genome sequenced?

"I have wanted to ever since I worked at Sanger and contributed to the human genome first draft. I saw so many bits of sequence at the time and now I can look at my own and I am thrilled!"

2. What was the greatest benefit to you?

"I’ve been able to start to look at genes that I am curious about. And once my family’s genomes arrive I will be able to see how they have inherited from me and my husband – I just think it’s amazing, there are no medical worries underpinning it."

3. Do you / did you perceive any risks with getting your genome sequenced?

"No, not at all. I’m not worried about it, either about finding out something unexpected or about sharing the data."

"In fact I’ve had to be really careful to impose proper ethical controls on how I treat my family’s data and confidentiality and once it arrives to explain to them that there is no going back on what they may find."

4. Have you ever considered sharing your genomic data online in the public domain?

"It is one of my primary aims. But I don’t know where to put it to make it available. This is really a journey of discovery for me. I would appreciate help and advice."



Group 2 - The Uneducated

(this includes my Grandmother)

  • Those who think it's a fun, cool, new thing to do.
  • Have done little to no research around the costs and benefits.
  • Have little to no real knowledge about how genomics or even genetics really works.
  • Have not read the T&Cs from the company that is sequencing their genomes 2.

1. Why did you choose to get your personal genome sequenced?

"Really just curiosity. I had always been told we had American Indian blood in the family, I wanted to find out if it was true".

2. What was the greatest benefit to you?

"I suppose knowing what you are and what you are not. (there was no Indian)"

3. Do you / did you perceive any risks with getting your genome sequenced?

"A friend had used 23&me and he is a clever man so I trusted him. They were very specific about your rights to your genome and always ask if they can use it for so and so research. I have always said no so far."

4. Have you ever considered sharing your genomic data online in the public domain?

"No."



Group 3 - The Pioneers

(this includes my cousin and friend's brother)

  • Those who think this is the future and they will not be left behind.
  • Have done enough reading to have a reasonable understanding about how genomics works.
  • Have researched the costs and benefits, and have decided it's worth any of the risks.

1. Why did you choose to get your personal genome sequenced?

"Two reasons in equal measure. To find out more about my ancestry and also to understand whether there were any genetic health risks for myself and my children."

2. What was the greatest benefit to you?

"Discovering that I did not have any of the higher health risks that genetic testing can screen for - Parkinson's, Alzheimer's etc."

3. Do you / did you perceive any risks with getting your genome sequenced?

"No. I don't subscribe to the ostrich approach. The benefit of finding out if I had a health risk outweighed the risks."

4. Have you ever considered sharing your genomic data online in the public domain?

"Yes both my wife and I did this to find people who shared our DNA."

... When I followed up with

5. Where and how did you share this data?

"Finding people with similar DNA as offered by the 23andMe web interface."


Sharing Personal Data

The reason I asked question 4 was because there is an increasing trend of individuals uploading their personal genomics data publicly online. Highlighting this increasing trend is Genomes Unzipped, which is blog about personal genomics, which aims to "provide genetic testing consumers with independent and informed analysis of developments in the field of genetics and the genetic testing industry".

Interestingly, after asking question 4 to many different people who have had their genomes sequenced, one thing that struck me was how differently they interpreted this question. When I said:

  • Genomic data, I meant raw genotypic data. The 'Educated' understood this, but the 'Oblivious' and 'Pioneers' mostly thought I meant the phenotypic data they had received from the sequencing company.

  • Public domain, I meant openly available for anyone to download and analyse. Again, the 'Educated' understood this, for the 'Oblivious' it was a concept they didn't know existed, and 'Pioneers' interpreted this as sharing on the internal platform of the sequencing company.

Clearly, there is a need for greater education of the general public about what sharing genomic data means, and how it can be done.


Where are people sharing their personal data?

As I mentioned in my blog post about the value of personal data: on Repositive we have a feature which enables users to register data on the platform. We built this feature because we wanted to help the community share and 'advertise' the data they have and find collaborators. However, one unexpected use case of 'Data Registration' is that people have started to register their own personal genome data. Now over five different individuals have registered their personal genome data on the platfrom.

For example, KT Pickard registered his Free Illumina 30x WGS dataset, and Albert Vilella registered his Personal Genome. To see more check out our Registered Data on Repositive.

There are various online resources that enable individuals to upload and share their personal genomes. These include:




Final Thoughts

So, would you get your genome sequenced? And would you share that data?

As I said at the beginning of this post, I don't think I would. That is predominantly because, although I do know a lot about the topic, I don't think I'm one of 'The Educated' and I'm not a 'Pioneer'. I don't know enough to think that I would make the right choices or that my data would be safe.

Remember that our 'Educated' interviewee said "No, not at all", in response to "Do you / did you perceive any risks with getting your genome sequenced?". And yet she also said "In fact I’ve had to be really careful to impose proper ethical controls". I presume she didn't perceive any risks because she was confident she knew which ethical controls she needed to impose. However, I am definitely not confident in my knowledge of ethical controls, and therefore I do perceive risks.

Nevertheless, I also see a huge amount of value in opening up personal genome sequencing to the public. It raises awareness of the topic and hopefully it will force discussion about the ethics surrounding the data. Furthermore, it is becoming more and more common for individuals to want to share their data publicly online - data which is highly valuable to the research community. Hopefully, as more people start to sequence and share their own genomes, we will come to understand more of the costs and benefits.

One of the interviewees added this final line:

"I believe that genomic data should be publicly available. The human genome project was founded on that principle and I have no doubt or question in my mind that the principle was a good and enabling one.

"Perhaps if enough individuals post their genomes, my genome will be bundled up and used in a way that someone finds useful in research or something else."

Here at Repositive I think we can all agree with that principle, and the dream of being one small drop that eventually makes an ocean is indeed a powerful one.

To read more about why Repositive users have chosen to upload their personal genome data, check out these links:


Footnotes

  1. 23andMe is a personal genomics and biotechnology company that provides a saliva-based direct-to-consumer personal genome test. There are many other companies that will sequence your DNA for you, head to DNA testing choice for a comprehensive overview and reviews of the DNA tests you can buy online.

  2. People who have bought 23andMe kits and agreed to donate their data to research (that’s about 600,000 of the company’s 800,000 customers) automatically consent for 23andMe to sequence their genomes, and 23andMe can share anonymous and pooled data about their self-reported health traits without asking. Read More

Read more posts by Charlotte Whicher