Direct-to-consumer genetic testing is an opportunity for people to get access to the same kind of test
we use to study the genetic basis of diseases, to understand how their own genomes
can tell them something about their ancestry or their own health information.
I haven't yet decided either way whether I would actually do the test myself
I think I would probably will.
I got the test as a present
I was mostly interested in my health risks
but at the same time I was worried about the psychological impact
that the results would have on me, if I found out I was a carrier of some nasty disease genes.
So I'm a bit of a hypochondriac, I'm the sort of person who if I'm feeling a little bit sick
I'll search for those symptoms on the internet, and then immediately diagnose myself with some fatal disease
And I suspect I would do the same thing if I had the genetic information.
I didn't have any particular concerns before taking the test
mainly because I'm quite lucky and my family have
quite a healthy health history so there wasn't any particular disease
that runs down the family tree.
I've spent alot of time in my life working on my family history, my geneology
and at some point, you reach a dead end path
and there would be alot more research to do in archives all over the world
and I think direct-to-consumer testing is a really interesting way to be able to sort of
quickly get an answer and potentially get connected with other people who are doing the same research
So when you sign up for one of these direct-to-consumer tests
you give some information to the company and they post you a box with a little tube inside
and they ask you to send back a saliva sample.
I did it together with some friends and we all got together
to dribble into these tubes and try to fill them to that line
and it doesn't seem like much but it's actually, when you're trying to produce
that amount of saliva on demand, its kind of a disgusting thing to do.
So after you send back your spit sample you have to register the sample online
you have the option of answering some of the questions
regarding your health history and lifestyle which will be further used for research purposes.
A few weeks later you get an email, they tell you that they have received your sample
they've run the genetic test that they do and you can log in to the website
to get access to your information for the first time.
The information was presented in two forms, one is my raw DNA data
and the other one is the service trying to help me to interpret this data
so I guess the ancestry component and also a long list of the different types of disease
and whether I'm more likely to get the disease or I'm less likely
compared to the average population.
So I was surprised actually that I am that healthy
I was expecting the worst from my genetic test
I was reading about all these nasty diseases
and how you can be a carrier of them,
but in the end it turns out I was pretty healthy!
Prior to taking the test I was excited about the possibility of getting this geneological information
and I was interested in the potential to have the health reports
but I didn't really think there was anything that could harm me in the information.
I think having more information about yourself can only be a good thing
After I received my results I was going through the health reports and
looking at my various different slightly changed risks of various diseases and traits
and one of them in particular really had an effect on me
I wasn't expecting this at all
but the particular trait was something that, in my childhood, I had a friend who died from it
and so I was really concerned about it, I just saw it and I was like "woah" that's data about me
and I have a slightly elevated risk of this,
and all kinds of memories came back and basically
it triggered something in me that I wasn't quite expecting at all.
I think people don't realise how powerful some of these results can be.
And often it's not in the areas you think.
It's not necessarily in the medical areas.
But, there are many stories in the press
where people discover stuff about their ancestry
i.e. their paternity or even shared siblings that they didn't know, or half siblings, that they didn't know they have.
And these are the sorts of consequences that can have serious impacts.
There were some things that were totally unsurprising, all of my family's from Ireland
and my genome says that I'm essentially 100% irish
which is, a relief in one sense I guess.
In terms of the health information there's some things it told me that weren't a surprise
so it predicted I had a high risk of the skin disease psoriasis
which is true because I happen to have it, in fact it does run in my family.
And also some totally unsurprising things like I'm at a high risk for male pattern baldness.
It was very easy to interpret your results.
The website helps you alot, give you alot of information.
about what the risks mean and how high the risks are
what's the average health risk on certain diseases
In the health sections I think they tend to show things in terms of relative risk
which means they get to show more interesting graphics I guess
like if you're showing how much you're changing the risk over the general population
you could be showing a graph maybe with this genotype that changes by this much
and this one changes by this much and this one changes by this much
and that's a more interesting shape
you sort of see this big change, it looks like.
But if you look at that in absolute terms
it's actually that your population risk is this much
and the genotype change is this much, that's basically the same thing,
and the other side is slightly elevated
and so, that's a less interesting picture so I think that it's reasonable that they choose to show as relative risk
it's just important that the people who are looking at these interpretations
understand what that means and that even though it looks like a big change in the graph,
it could be representing a very small absolute change in that risk to a particular disease.
I believe that it's very important that information that you get from direct-to-consumer genetic tests
should not be considered in isolation.
It has to be considered in conjunction with other information
related to your age, your lifestyle, your diet
in exactly the same way that when you go to your GP and they're trying to diagnose you
they don't just try and measure one thing
they consider that in conjunction with lots of other information
so that they can make the right choice about the appropriate treatment regime.
And so in exactly the same way, you have to interpret information from direct-to-consumer genetic testing
in conjunction with all of the other information about yourself
and that'll help you make informed decisions
about whether this information really can provide some useful insights
that might alter your lifestyle.
I have shared my testing results with my friends and family
and the reason that I'm sharing is one because my results were quite positive, I have quite healthy genes
I was quite happy to see how healthy I am, genetically.
And also to encourage my family and friends to do their genetic test as well
so we can have more information as a family.
I've shared it with family and friends who also have accounts on the various sites
so that they can just see everything about my data because I don't see the big deal in that.
And I've also gone so far as to share it with basically strangers
who the site has connected me with through my genome,
basically saying that "you share some amount of your data, you might be related"
people are interested to look deeper and see which parts of your genome you share
to maybe help them figure out the geneology
and I've basically said yes to all of those requests as well.
I was quite careful who I shared my results with.
I only shared them with close friends who also did the test
out of curiosity to see how my results are compared to theirs.
I think the most critical challenge in how you present genetic risk information to people
is to reinforce the uncertainty about genetic risk information.
And these companies, I think, take that responsibility very seriously
to present some kind of complicated concepts.
Like the difference between relative risk and absolute risk.
And differentiating between these two concepts
and understanding that your genome isn't your destiny
is a very important part of how you present this information to people.
I think if somebody was thinking about doing a genetic test
if I had a friend who was interested in doing it then I would say
"go for it, you'll probably discover some really fun stuff about your DNA
and you'll understand what information there is that we know today about your DNA
which is not actually an awful lot.
Often your family history tells you far more and you probably already know that.
But do think carefully about it, talk to your nearest and dearest about it
consider the implications that might have for your children, or future children, for your parents
So, go for it. But do think a little bit about it.