Ever wondered where your ancestors descended from? Ever thought that you may possibly have a mix of races in you? Would you like to know which diseases you have a high risk contracting? How about discovering which conditions you are a carrier (but not necessarily a sufferer) of?
I suspect everyone will show some level of interest in their ancestry but the answer to the latter two questions held within our DNA may not be for everyone just yet. Not that this information has always been easy to obtain as the human genome was only sequenced in 2003 so an impossibility pre 2003 and a very expensive proposition immediately after then.
Biology is like technology and prices lower as economies of scale take hold and while Whole Genome Sequencing, where the entire genome is sequenced, is still expensive to the average person (although costs are dramatically falling) SNP Genotyping, where one million of the three billion strings of DNA are analysed, is relatively inexpensive and becoming less so.
23andMe. Genetic testing for health, disease and ancestry
23andMe offer the cheaper SNP Genotyping and I first heard of its service around a year or so ago when the price for it was around $500. Since then it has dropped dramatically and you can now expect to pay $99 + P&P for international shipping. Shipping to the UK is expensive at $80 and I asked 23andMe about it on Twitter and was assured that they made no mark-up fee on the delivery.
The company was founded eight years ago and has received funding from Google Ventures, Russian billionaire Yuri Milner and Google co-founder, Sergi Brin (the co-founder of 23andMe is Brin’s wife, Anne Wojcicki). Since then 180,000 people have sent their saliva for sampling and with the continuing price reductions the number of people using the service is predicted to increase tenfold.
Signing up to 23andMe is simple and once you’ve paid the fee you will be sent a saliva kit (see above) in the post. Simply spit in to the plastic tube provided until it’s at the appropriate level then seal up and return. Each kit has a unique barcode which you use when signing up to your 23andMe account to ensure they can match the correct user with the correct saliva.
Because this was an international shipping requirement there is a standard batch of forms you have to fill out and give to the DHL operative when sending back. Everything worked out fine and 23andMe sent me a confirmation email once they had received my sample.
It’s Still Early Days
One thing to keep in mind is that genetic testing is all very new and the wonders of science continue to make new discoveries when it comes to research of this kind. The personal genotyping that 23andMe does is not the full mapping of the gene but one million (or arguably the most important strands) among three billion and thus the findings should not be taken as absolute.
Around two weeks after sending my sample I received an email from 23andMe telling me my results where ready.
Down the left hand side of the homepage are the two most exciting sections of the site. The My Health and My Ancestry sections and their accompanying subsections.
In the ancestry section you can look at both your maternal line and paternal line individually (unfortunately if you’re female you can’t access your paternal lineage from your DNA. You need either your brother or father to take the test). For each line you’re given your haplogroup along with other insights about your lineage. 23andMe provides lots of information throughout the site for particular scientific terms and defines a halpogroup as:
“The term scientists use to describe individual branches, or closely related groups of branches, on genetic family trees. Haplogroups are defined by particular genetic mutations that are shared by all the people who belong to them. All members of a haplogroup trace their ancestry back to the single individual in which that defining mutation arose.”
According to the above my mother’s Halpogroup H39 came from Scandinavia and Basque origins.
My father’s Halpogroup I1* comes from Finland, Norway and Sweden which could explain my blonde hair (as a child) and blue eyes. To this day this Halpogroup is mostly found in Scandinavia and Finland. It’s my Viking gene.
Above is my ancestry composition taken from around 500 years ago. Again, it’s predominantly Northern European and according to it I’m over a quarter British and Irish which, when clicked, gives the following additional information:
“When people first arrived in the regions now known as Great Britain and Ireland tens of thousands of years ago, these two regions were physically joined to one another. Today the people of the islands of Great Britain and Ireland descend from Celtic, Saxon, and Viking ancestors.”
I don’t completely understand the Ancestry Composition section as it says 0.4% of me is Scandinavian and 61% is Northern European yet Northern Europe contains the Scandinavian countries. It’s still interesting of course and I particularly like that 0.1% comes from Sub-Saharan Africa perhaps proving the theory that all humans came ‘Out of Africa‘.
The Relative Finder section is interesting as it pairs you with other people in 23andMe’s database in terms of how closely related you are. Those that opt in can be contacted by these members and you too can contact them if you so wish. My closest potential relative shares 0.45% of my DNA and could be somewhere between my 3rd to 5th cousin. Initially I didn’t know what a 5th cousin is but 23andMe has an excellent explanatory video that you can see below and which basically means we share the same great great great great grandparents:
The Relative Finder can also show via a Google Maps plugin the geographical location of your distant cousins.
I don’t intend to contact anyone on 23andMe as it stands but perhaps if my DNA matched someone as a third cousin then maybe I would. Until then though I’ll hold out but wouldn’t refrain from sharing my DNA data if a distant cousin requests it.
The health section is an interesting yet controversial one. In this section there are five subsections:
- Disease risk
- Carrier status
- Drug response
- Health labs
This section is broken down in to three other sections: Elevated Risk, Decreased Risk and Typical Risk. Using genetic research 23andMe predicts the likelihood of you catching a specific disease and the stars alongside each disease represent the confidence in the prediction. I assume that the greater number of stars equals the more robust research has been carried out.
I have to point out that some of disease risk data such as Alzheimer’s Disease and Parkinson’s Disease have to be ‘unlocked’ before the user can access it regardless of whether they are a low or high risk. Unlocking these results are completely at the user’s discretion and I personally wanted to see mine. Other people may not however.
This section is not without controversy however and people have warned against the validity of the results as this area is still new and discoveries are still being made constantly.
The carrier status is another interesting one. 23andMe describe this section as:
“This list displays your status with regard to genetic variations that have been strongly linked to particular diseases.”
I particularly liked this one because my dad has Hemochromatosis (too much iron in the blood) and it says I’m a carrier of it. Note: Being a carrier does not necessarily mean that I will be diagnosed with the condition although it is possible and likewise I could pass it on to my children.
To dig down further I simply click on the Hemochromatosis link at it tells me at a more specific level how likely I am to get it and pass it on to my children. I assume by the above that I’m fairly low risk.
The Drug Response section displays your status with regard to genetic variations that have been linked to differences in how people respond to drugs. People can react differently to certain drugs and this section looks at your own personal reaction to certain kinds. According to this I have increased sensitivity to Warfarin which is a blood thinner for people with high risk of blood clots.
Interestingly in the Disease Risk section it says I’m at a decreased risk of Venous Thromboembolism which is the forming of blood clots so, despite my apparent sensitivity to Warfarin, I shouldn’t be needing it.
The Traits section is where 23andMe group physical attributes completely determined by genetics. Some traits that 23andMe confirmed such as predicting my eye colour were not exactly mind blowing but others were more enlightening such as muscle performance.
23andMe confirmed that I have the TT genotype (found in many endurance athletes) and I lack the alpha-actinin-3 in fast-twitch muscle fiber (found in many world class sprinters) stating that I’m likely to be better at endurance that flat-out sprints which probably holds true for me. Good to know that I’m at low risk of going bald too although I assumed this as no males in my family ever have.
Both the Ancestry and Health section have a dedicated labs section where you can experiment with different tools. For example in the Ancestry Labs you can see how much of your DNA is from Neanderthal (for the record mine is 2.8%. The average is 2.6%). You can also listen to your DNA as a melodic tune (you can hear mine here) which I’ve downloaded and intend to use as my phone’s ringtone.
The Health Labs is a little less interesting where you can find your ABO blood type, Genetic Weight Calculator and Reynolds Risk Score (the likelihood of having a future heart attack, stroke or major heart disease). Regardless I think the labs section is a very nice touch and shows 23andMe’s commitment to experimenting, trialling and introducing fun (the DNA melody not the Reynolds Risk Score) elements to a new but exciting area.
Personal genetics is a relatively new and upcoming trend and increasingly people will become interested to know their own DNA from an ancestry point of view but perhaps more so from a health point of view. This is not an assumption either as a recent Forbes survey recently found that almost 51 percent of Americans would be interested in having their spit tested to find certain diseases.
Of course some people will choose to remain blissfully ignorant with regard to what their DNA can tell them (much like some people hate exercise and choose not to do it despite understanding the benefits) but others will want to know this information so they can take action on it. I certainly will and I have heard of others doing the same also.
This trend will continue too as 23AndMe’s service and services like it become cheaper and more accurate. Not to mention the dramatically reducing price of Whole Genome Sequencing which is expected to be around $1,000 in 2014 which is still too expensive to most people of course but, remember, 1GB of data cost $1,000 in 1994 and by 1997 it had dropped to $100.
For anyone wishing to understand their genetic make-up I have no reservations in recommending 23andMe. I found the service fantastic, I have learned so much from it and continue to login to my account to look at specific sections of the data. 23andMe’s database is constantly being updated after new research is published (some of it their own) so it’s good to know that in a year or two’s time I may be able to gain new insights in to my health and ancestry.
As well as this 23andMe is quite clearly a company that is looking at the Big Data picture of genetics and understands that by collecting as many people’s individual DNA as possible and asking users to fill out their numerous health related surveys they can begin to make correlations between the data and disease. As an individual it feels like I’m contributing something to this and it’s a pretty good feeling.