Tuesday, 4 July 2017

A Day Out at UCL

It was with some slight trepidation that I set out last Tuesday morning for the Workshop on “Personal Genetic Testing: Challenges and Benefits in and Beyond the Clinic” at the University College London (UCL). PGT covers more than just the ‘direct-to-customer’ DNA tests that we genetic genealogists use and this was clearly going to be an “academic” day. Was it all going to be “over my head”?

But, considering my interest in DNA testing, and with people such as Debbie Kennett involved in the event, I had decided it was worth taking the risk. In the end, whilst I imagine the day might not have appealed to the ‘average’ genetic genealogist, I did find it interesting and useful, even if some of the topics were not directly relevant to me.

Following a non-eventful train journey to Euston (would you believe that first class on London Midland was actually the cheapest ticket!), I arrived with plenty of time to spare, so took a few minutes to sit in the garden at the Friends meeting house, which was between Euston and UCL, to enjoy the experience of being in London.

The first talk of the day was by Adam Rutherford.  Although he is well known as an author and presenter, it was actually the first time I’ve heard him speak. I may not fully grasp the issues of “identity politics” but his talk was interesting and informative, and gave me a better understanding of how genetics-related topics I’d previously learnt about, such as Mendelian inheritance from biology lessons at school, and the “Nature vs Nurture” debate from when I was studying psychology, fit into the wider picture of genetics.  I also learnt a new term (‘Genetic isopoint’ – “the time at which everyone alive is the ancestor of everyone alive today, or no-one”*, which is said to be approximately the tenth century.)  It was enlightening (and slightly shocking) to hear how some topics, which Dr Rutherford described as “non-controversial” to geneticists, can be extremely controversial amongst some members of the general public.  Unfortunately, it would seem that the simplistic understanding many of us possibly have about genetics can lead to undesirable consequences, such as when a concept like the “warrior gene” becomes an accepted excuse for criminal behaviour.

Coffee break was followed by a focus group on the Science of Ancestry Testing, dealing with the tests we take for genealogy.  Rather than the panel members doing presentations, as in the later sessions, this was initiated by the moderator, Mark Thomas, posing some questions about what we actually mean when we use terms such as “ethnicity” and “ancestry”, and whether genetic testing is helping to debunk myths, or whether it is reinforcing them.  The representatives of two testing companies (Dave Nicholson, from LivingDNA, and Mike Mulligan, from Ancestry) made good points about their companies’ activities in education, and about the need to be trusted by their customers (and therefore having a solid scientific basis to their claims).  But there’s clearly some differences of opinion with the scientists as to how scientific the simple ‘one-liners’ that often appear in adverts actually are.  And of course, it is often similar, simple one-liners that make the news headlines about DNA testing. There was a good comment from someone to the effect that phrases such as ‘the seven daughters of Eve’ may provide a “clear narrative” but are “scientifically problematic”.

So one “take home point” for me, from this session, was that I should try to be more critical and analytical about the things I read (and write) about genetic genealogy – people place their own interpretations on what they read, based on their own understanding and biases, and even terms such as “ancient ancestry” and “recent ancestry” often have different meanings, for example, when used by a genetic genealogist, as opposed to a population geneticist.  There is a need for clarity about how terms are being used in any particular context, as well as more awareness of the details underlying the headlines.

After the lunch break (when I joined most of the other genetic genealogists for an enjoyable lunch in the nearby Wellcome Institute Cafe), the first afternoon session concerned ethical issues in PGT.  This involved three presentations which were all thought-provoking, for different reasons.  Concepts such as “genomic sovereignty”, and the “forensic microbiome”, have certainly given me a few things to look up since I returned home*.  Whilst I cannot even imagine what it is like to live in a country such as Mexico, where thousands have been killed, or have disappeared, the second presentation, involving the question of the “personal or social” nature of genetic testing was one I could relate to more easily, having considered some of the issues myself when deciding to test at 23andMe (and in asking relatives to also test).  To know, or not to know, that is the question.  I was glad that one conclusion of the study was that people can make ethical decisions, if they have the relevant information.  The third presentation, concerning the ethical issues that arise in the use of DNA when dealing with disaster settings, is one I hope I never need to consider from a personal viewpoint.  Sadly very timely in the light of recent events, this was an insight into the very real challenges, and difficult decisions, faced by those who work in this field and raised many questions about the “Pandora’s box” that the ability to carry out DNA testing has opened.

The next session was a panel presenting social scientific perspectives on PGT and Identity. Unfortunately, I’ve always struggled with the “wordiness” of the social sciences so, for me, this was the least interesting session and reminded me of why I didn’t go into research following my psychology degree.

After another coffee break, there was a useful tutorial on the challenges of security and privacy in genomics.  It’s an important point to remember that, unlike passwords or bank details, there’s no “reset button” for our genomic data, which is why, even at the level of data we genealogists deal with, we should consider carefully what we share about it, and about those we connect to.

The final panel concerned medical and research aspects of PGT.  Again, these were interesting, even though not directly relevant to me.  The first, concerning personalised medicine and whole genome sequencing for genetic diagnosis, again illustrated some of the difficult decisions organisations such as the NHS face, when considering issues such as population screening, where the benefit of potentially discovering a curable disease at an early stage, needs to be weighed against the possibility of discovering other, untreatable, diseases at the same time. The second talk in this panel, and the final one of the day, was an enthusiastic presentation about open-access medical genomics, with particular concentration on the Personal Genome Project UK (PGP-UK). This introduced me to a few more “omics” terms (epigenomics and transcriptomics) to go with ‘genomics’, as well as describing how different types of data access affected ease of research. The PGP has a very intense application procedure, including an exam that even someone with a genetics PhD can fail, if they don’t read the information properly. So participants are very clear about what the project involves, and what open access of their data will mean, before they take part in the project.  I doubt there’ll be any concerns regarding a lack of informed consent in that project!

The day ended with an informal reception, which was another opportunity to catch up with the other genetic genealogists, and to hear their views of the day.

So, to sum up, I enjoyed the day and it opened my eyes to some of the wider issues concerning PGT and it wasn’t (entirely) over my head. I do feel that there is a gap between what the academics are focusing on and the priorities for many genetic genealogists. I imagine that the time some scientists have had to spend ‘debunking’ the more ridiculous claims that have been made regarding genetic identities of groups (such as of the Vikings), has influenced this. There clearly is scope for research into the relationship between DNA testing and identity, or ‘belonging’ – but I suspect that the majority of those testing initially do so from a sense of curiosity, rather than as a way of finding their place in the world or, as one participant put it, an “identity grab”, finding “distinctiveness in a complex world, with fractured identities”.  However, at the moment, there seems to be an overemphasis on the ancestry/ethnicity side of the tests and the claims relating to that aspect, rather than on the other aspects, such as “cousin matching” (in order to confirm researched family history, or to discover unknown parentage), which is a very important aspect for many genealogists who test.  Although I admit to having had a variety of reasons for the specific tests I have taken, or arranged to be taken, over the years, including curiosity and health issues, as well as using it as a tool for my one-name study, it is confirming my family history and finding new relatives that are the priority for me.  

Why does any of this matter?

There’s probably several reasons, but here’s a couple: I have visited societies that have had a talk by a scientist about DNA testing, who have been left with the impression that direct-to-customer DNA tests are overly expensive and not worth doing.  This concerns me, given that I am trying to encourage the use of such tests for genealogy.  I don’t mind people deciding against testing - I have several relatives who have done that and it is entirely their choice – but I’d like people to be making the decision based on accurate information.   Also, during the day I spoke to at least one person who supported the idea of regulation of the direct-to-customer DNA tests.  This wasn’t the first time that I’d found myself involved in such a conversation, having previously experienced it at WDYTYA. It’s no surprise that the topic of regulation comes up, not just because of the concerns about unscientific “ancestry” claims, but when one considers that there are now companies claiming they can use your DNA to help you with your diet, your exercise, even your wine choice*, it can seem as if the general public might need protecting.

So I think it is important that we continue to engage with the scientists and academic community to ensure that how we are using DNA testing is based on sound scientific principles, and that the way we are using it is then properly understood and represented by those who may, one day, be involved in any potential regulation.  I am very grateful to the other genetic genealogists who attended last week, as I know most of them have a better understanding of these issues than I do.  I’m also grateful to the scientists and staff at UCL, who are enabling ongoing debate about the issues surrounding PGT.  Long may it continue.

And, hopefully, we will all end up better for it.

* Sources, references or other relevant links
Personal Genetic Testing: Challenges and Benefits in and Beyond the Clinic

Genetic Sovereignty - 
Genomic Sovereignty and "The Mexican Genome" - https://ore.exeter.ac.uk/repository/handle/10036/3500
Genomic sovereignty and the African promise: mining the African genome for the benefit of Africa

The increasing use of DNA in other aspects of life:
Diet and fitness – examples of scientific literature I found:
http://www.bmj.com/content/324/7351/1438 (Summary free, main article behind a paywall)
(And a search on google for “DNA diet” will give results from companies aiming to sell you such a test.  Caveat emptor!)
Wine choice

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