About a month ago, I wrote about ordering a DNA testing kit from California-based personal genetics company 23andme.com.
The results arrived this week and, after spending 3-4 hours delving into the information, I’m really pleased I bought the service.
First things first; no DNA test is entirely reliable. The information provided by 23andme is only a starting point for further investigation and consideration.
As I wrote back in December, one of the things which prompted me to order a personal genome service was interviewing Jennifer Rusted, Professor of Experimental Psychology at University of Sussex, about dementia research. I interviewed Jenny for the documentary I made about the Baby Boomer generation reaching retirement.
Jenny talked about the “apolipoprotein E” gene, also known as APOE. This gene provides instructions for making a protein which combines with fats (lipids) in the body to form molecules called lipoproteins.
As soon as I finished the interview, I immediately wanted to know whether I carried this hereditary risk factor for late-onset Alzheimer’s, in particular the ?4 variant of the APOE gene. When the 23andme service became available in the UK, I had the option to find out.
When the results arrived on Monday evening, the first section I clicked on was the health overview, specifically genetic risk factors.
23andme ‘locks’ the results for some of the more sensitive genetic risk factors, which means you have to read various warnings and disclaimers before viewing your results. The variants for late-onset Alzheimer’s and also for Parkinson’s Disease were both initially locked.
Agreeing to unlock my results and view the findings, I was presented with the news that I carry not one but two copies of the APOE ?4 variant. Lucky me!
What this means, based on current research, is that I have a 51-52% chance of developing Alzheimer’s disease by 85 years old. To put this in context, those with the ?2/?2 or ?2/?3 variant have a 4-5% chance and women with the same variant as me have a 60-68% chance.
Of course other factors can also influence my risk for late-onset Alzheimer’s. Advancing age, family history of the disease, and head trauma with concussion all are factors to consider.
Reading the results, I wasn’t particularly surprised to see I carried the variant. It’s positive in the sense that I can monitor my health as I get older (I’m only 35 years old now) and potentially take lifestyle steps to reduce my risk of the disease.
Once I had digested the information about the APOE ?4 variant and confirmed there were no other genetic risk variants flagged up in my results, I moved onto the other parts of the reporting.
Within the health overview, there is also personalised information about inherited conditions (none), drug response (three which could be useful to know about in later life) and ‘traits’, which is the area which probably has the most entertainment value.
The traits section of the 23andme.com reporting includes confirmation that I’m likely to have blue eyes and curly hair.
It tells me I have one working copy of alpha-actinin-3 in my fast-twitch muscle fiber, which makes me more likely to be a sprinter than an endurance athlete. This was not the best news ahead of the 30 mile ultra marathon I’m running this weekend!
The other side of the 23andme service is ancestry.
My ancestry results show that an estimated 2.6% of my DNA is from Neanderthals. This is only slightly lower than the average European person!
According to the reporting, on my father’s side I’m part of the haplogroup I1, which can be traced back to a single genetic mutation at a specific place and time, in this case Northern Europe with highest frequencies in Scandinavia 28,000 years ago. This makes me distantly related to Leo Tolstoy and Warren Buffett.
On my mother’s side, I’m in the haplogroup H1a, traced back to Europe, Near East, Central Asia and Northwestern Africa some 13,000 years ago. H1, of which this is a sub-group, appears to have been common in Doggerland, an ancient land now flooded by the North Sea.
My ancestry composition is 47.4% British & Irish, with additional ancestry from the Netherlands, Russia, Greece and Sweden (the only country I knew about from previous family tree research).
Where 23andme has the potential to get really interesting is exporting the raw data to other analysis services.
I’ve already done this with the third-party application DNAFit, to create a personalised diet report based on my raw data from 23andme.
This explained that I have a high sensitivity to carbohydrates, raised salt sensitivity and medium-low saturated fat sensitivity. Based on these findings, I’m able to tailor my diet for optimum performance.
I’m confident that services like 23andme will become more widespread as genetic research continues and more people take an active interest in their health and ancestry.
There are of course privacy concerns around using these services and, potentially, issues around disclosure and cover for insurance purposes once you know more about your DNA, but for me at least the positive attributes of understanding personal genetics outweighs these minor issues.
