As stated at the start of this guide, each one of the main tests will provide you with easy-to-use reports and cousin matching that you can use in your genealogy research. You will need to carefully review the information provided in this guide to make a decision about which test is best for your particular needs. You may also choose to test with (or upload your results to) multiple companies.
The 100,000 Genomes Project is an NHS initiative, run by Genomics England, and is the largest national genome sequencing project in the world. On entering, patients have their entire genome, of more than 3bn base pairs, sequenced. This is different from commercially available genetic testing kits, such as those from 23andMe, which only look at very small stretches of DNA in a process called genotyping. The hope of the NHS is that having so much genetic information, from so many different people, will allow “groundbreaking discoveries about how diseases work, who could be susceptible to them, how we can treat them, and what treatments might work”.
There are many places you can upload your raw DNA, and several of them are free. Popular third-party DNA analysis tools include GEDmatch and Promethese. GEDmatch is a free, open database and genealogy site that gives additional DNA relative matching and trait results. This tool has information from users of multiple different testing companies. Promethease compares your raw DNA information against scientific reports that link certain markers to health conditions, though you should take these results with a grain of salt as genetic links do not equal a diagnosis.
When I found out about AncestryDNA, I thought this could be the perfect tool to pinpoint where my family emigrated over the past few hundred years (AncestryDNA can actually go back 1000 years) and give me a focus where to take my search next. When I got the email that my results were ready I felt like a kid on Christmas day. They revealed that I was only 40% British, 25% German and 35% Greek. I’ve now focused my search on these three countries and already discovered ancestors I never knew existed.
AncestryDNA recently updated their service, adding new regions and adjusting their algorithm to make their ethnicity estimates more accurate. You're not alone in being a bit bewildered, since plenty of people have had their results change unexpectedly. As genetic ancestry analysis is a relatively recent science and is improving all the time, your results will become more accurate as more people enter the Ancestry database, allowing them to hone their algorithm accordingly.
Some ethnicity DNA tests will report on the percentage of your autosomal DNA that can be linked to Neanderthals and/or Denisovans – these are non-human ‘hominin’ species that inter-mixed with humans before dying out tens of thousands of years ago. The percentage of our DNA that originates from hominins is 1-5% and it varies greatly between individuals. Only a few genetic ancestry companies include this analysis in their tests (e.g. 23andMe and National Geographic’s ‘Geno 2.0’) and it can be fun to see how much of these ancient species still live on in your genetic code.
If you have the Health + Ancestry Service you have access to the full 23andMe experience. If you only have the Ancestry Service, you can easily upgrade to the Health + Ancestry Service for £90 which gives you access to all 125+ reports on ancestry, traits and health. You are eligible to upgrade once you have received your Ancestry reports. To upgrade, log in to your 23andMe account and navigate to the Settings page. You will receive immediate access to your new health reports.
Prices range from £100 to £200 for a basic DNA profile, but it’s worth mentioning that the cost largely depends on what you intend to do with it. One of the major factors that you need to consider, and which significantly impacts the cost, is whether you want your DNA profile to be legally admissible or not. Legal DNA profiles cost more than peace of mind versions, but if there’s a chance that your profile will be used in legal proceedings, it’s worth paying extra for.
It’s worth bearing in mind that when you’re presented with the population groups that have contributed to your DNA, some of the groups revealed may be very general (e.g. Western European) and the report may not tell you when or for how long each group was located in the region that it’s named after. The specificity of the population groups depends on the reference populations used by the company you test with (discussed later). Therefore, if a detailed ethnic breakdown is important to you, look for example reports from the company you’re considering, or get in touch with them to ask for a list of the reference populations that they use.
When it comes to proving a biological relationship between a British citizen and a family member living abroad so that they may immigrate, DNA testing can greatly strengthen the case. However, DNA evidence alone does not guarantee a successful immigration application. If you’re considering taking a DNA test for immigration purposes, we recommend you take legal advice to ensure it’s used in the best possible way.
Companies differ in terms of which reference populations they use. Some companies will create their own reference populations, while others will use populations identified in published studies. For example, 23andMe produce their own reference populations by sampling their customers (as long as the grandparents of those customers were all born in the same country). They then combine this data with public population data, produced by projects such as the Human Genome Diversity Project.
Because it is a genetic condition, hereditary hemochromatosis is present at birth. Many people with this condition never develop iron overload. Of those who do develop iron overload, only a small number develop symptoms. If men develop symptoms, they typically appear between 40 and 60 years of age. Women rarely develop symptoms, and when they do it tends to be after menopause.
FTDNA has, by far, the most advanced tools built-in for easily analyzing cousin matches and it does have a family tree feature that has been recently improved, but most people have not taken advantage of this feature and the family trees found on FTDNA are, when present, generally underdeveloped. However, because FTDNA also provides a host of advanced featured that can provide invaluable data to dedicated researchers their cousin matching system still stands apart from the crowd, drawing in those who are interested in more deeply analyzing their results.
Having given these questions much thought, I thought a good starting point would be to look back and start researching my own family history. When I was young I always thought I was 100% British. My Dad was born in Edgware and my mum in Hampshire. Of course, none of us are truly 100% British and as I got older I learnt that my Dad had Russian great-grandparents on one side and German on the other, and that my great grand-parents on my mother’s side were Greek. So I suppose this is when I started considering how much of my identity was defined by my family history.
Which is all very well, but do these kits work and deliver the service they promise and what about the wider ethics and implications of home genetic testing? Is it always wise for generally under-informed, under-prepared consumers to meddle in the highly complex, nuanced arena of genetics, risking confusion, complacency or even outright panic and anxiety when confronted with ostensible “bad news” (which may not even be true)?
The little changes are where “mutations” occur over generations – these aren’t necessarily bad, it just means that the gene has been copied slightly differently as it passed from father to son. Because its possible to predict how often mutations are likely to occur, comparing the Y-DNA from distant male cousins with a common ancestor (and seeing how many differences there are in a standardised set of markers tested) allows a rough estimate of when that common ancestor might have lived. A very close match between two men who share a common surname (only one or two differences) makes it very likely they are related, and a bigger number of differences makes it either less likely they are related, or that the most recent common ancestor is very many generations back.