Personal genomics is the branch of genomics concerned with the sequencing and analysis of the genome of an individual. By studying single-nucleotide polymorphisms (SNPs) – which are essentially typos in the DNA sequence – geneticists can determine if a person has a predisposition to a wide range of human diseases, including cystic fibrosis, cancer, sickle cell anaemia, Parkinson's and Alzheimer's.
Many members of the scientific community envisage these tests playing an important role in the future as medical professionals seek to implement more preventive protocols and technological advancements increase the speed and decrease the cost of such testing, making it infinitely more accessible.
In 2008, 23andMe's $99 at-home genetic testing kit was named Time Magazine's Invention of the Year. By offering the service directly to consumers the company seeks to encourage and empower individuals to be more proactive about their health. A few hideous inheritable conditions run in my family and with the prospect of having babies looming I was intrigued to learn more about my own genetic risk factors and see if such an elaborate process could be presented in a way that could be understood by someone without a PhD.
When your kit arrives, the first thing to do is register it on the 23andMe website. The site will prompt you to create an account using your email address. When you've entered the barcode printed on the side of the collection tube you are invited to allow your data to be used for research purposes (I consented because it felt like the right thing to do) and asked to answer a series of questions about your health, history and lifestyle.
The DNA collection is quick and painless. No blood, no needles, no swabs. Just a bit of spit in a tube. Once you have spit in the tube (don't eat, drink, brush your teeth, chew gum or smoke for half an hour beforehand), you press the lid shut which releases a preservative solution, screw on the cap, seal it into the biohazard bag and post it back to 23andMe in the pre-paid box in which it came.
Once the sample has been received by the lab you can track it throughout each of the six stages – initial inspection, DNA extraction, amplification, DNA analysis (genotyping), quality review and computation of results. Lead times vary but the process usually takes from six to ten weeks.
When I saw that my sample had entered the final stage, I started to feel more than a little apprehensive. I was anxious about what might have been found, the implications for my parents, brother and children if it turned out I had genetic variants that had been (or could be) passed on. There were a couple of times when I thought it might be best if I just didn't know ... but when the email arrived to say my results were ready I couldn't get to the computer fast enough.
For privacy and security, the only way to view your results is through the 23andMe website. The complex raw data is laid out in a way that easy to navigate and interpret. Drop down menus guide you through the different categories – Genetic Risk Factors, Drug Response, Inherited Conditions, Traits, Health Tools, Ancestry Composition, Maternal Line, Paternal Line, Neanderthal Ancestry and Ancestry Tools. [You can read the full list of the things they test for here.]
I was very relieved to discover that I haven't inherited any of the genetic variants that would indicate a predisposition towards the conditions listed. The next best thing was learning about my inherited traits. Some of them were a surprise – there's a whole world of smell and taste that I apparently don't experience – while others were less so – my father has bright red hair so the odds were that I would have inherited the ginger genes. Sharing the information with my relatives was fun, too – my grandmothers both tried to claim all the traits as having originated with their respective sides of the family...
The kits are sold as information tools and are not intended to replace traditional diagnostic techniques or procedures, but if you wish to get to know your body a little better and/or make more informed decisions about your lifestyle this is the perfect place to start.
£125 | 23andme.com
Genotyping services kindly provided by 23andMe.