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”.
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In fairness to 23andME, it leaves it up to the customer to unlock the more serious results – or not. When I unlock mine, I discover that, while I’m not genetically predisposed to such things as the BRAC1 or BRAC2 variant, Parkinson’s or MS, I have one of the variants for late-onset (mid-80s) Alzheimer’s. However, I don’t have any other markers for Alzheimer’s or family history or conditions associated with it or anything else listed in the rather lengthy disclaimer, which also stresses that it’s not a diagnostic result and to seek further advice from your GP if you are concerned.
The only patients having their genome sequenced are those with certain cancers or rare diseases. In some cases, family members may also be asked to participate. To take part, a patient must first be referred by a consultant, before being taken through an extensive consent process to ensure they know what participation in the project means. As well as the genome sequence, Genomics England asks for access to a patient’s lifetime medical records so that links can be made between their genetics and their individual disease. The NHS has made it very clear that, for many participants, taking part in this project won’t help them treat their disease. But it is hoped that the information they provide will go on to help treat others in the future.
We provide sample collection kits for all our tests. Paternity testing, relationship tests and most of our other tests entail the easiest and most painless method of sample collection using oral swab samples. Visit our collection guide for information about how to collect your own samples from home using our DNA test kit. Thanks to state-of-the-art genetic identification systems we are able to perform testing with many other samples such as hair, garments and toothbrushes. The discreet DNA samples section has more information on the types of totally non-invasive samples that can be tested.
When I took my first DNA test in 2016 I was disappointed, in part because I didn’t do my research, so my goal in this review is help others avoid that scenario. Beyond ancestry tests, there are companies that recommend wines or exercise regimens based on your DNA. With all the available options, it’s easy to default to a recognizable name, which isn’t necessarily bad. But certain tests do specific things better. Our goal is to match your expectations with the test that fits best.
Bill Newman, professor of translational genomic medicine in the Manchester centre for genomic medicine at the University of Manchester, and chair of the British Society of Genetic Medicine, says that such tests in this context simply don’t make sense and that, usually, telomere testing would only be used in in-depth studies of ageing and diseases associated with ageing. “There’s some really brilliant work going on, by some of the best biologists in the world,” says Newman, citing Elizabeth Blackburn, who won the 2009 Nobel prize for medicine for her work on telomeres. “But there’s no evidence whatsoever that measuring a person’s telomeres gives any indication about their health – or beauty, intelligence, or anything else that might be listed on these sites.”
Health & Wellness tests: There are a ton of health and wellness DNA tests. We found several specifically oriented to dieting and weight loss, including embodyDNA, Vitagene, DNAFit and the several options available through the Helix marketplace. While there definitely are some links between DNA and factors that contribute to weight, we advise taking these diet plans with a grain of salt, as DNA science is still a relatively young field. We similarly advise caution for the multitude of non-diet health and wellness DNA tests, which offer insights into your sleep, food sensitivities, and vitamin and mineral levels. And double that for medical information found in consumer DNA kit test results. While medical insights learned from taking an at-home DNA test may be interesting, it’s best not to take them too seriously. If you have a concern about a genetic predisposition to a disease, it’s best to talk to your doctor instead of relying on a direct-to-consumer kit.
My own results are eagerly awaited: the whole process takes about 6 weeks. I am somewhat more sceptical having Polish heritage and therefore my contact with relatives might be less likely, however I am waiting eagerly to see whether I have any trace of the Mongol hoards who invaded deep into Europe. I have posted a screenshot of how long the process takes from activation.
My daughter had her DNA tested recently with Ancestry.com and at first it tied in very well with my research. But then they changed it. Now she has just 6% “Germanic European” (whereas before it was 12% North European). I had mine done. My mother’s family were Northern Italian (Tuscany) for as many generations as I have been able to trace, but mine resulted with 41% France!!! Consequently the rest of my family think it’s all rubbish and I’m thinking it hasn’t helped me at all.
Most of the services we tested use genotyping to read your DNA. Genotyping looks for specific markers in your genetic code. For something like ancestry testing, genotyping is effective because it identifies known variants in your DNA. Scientifically speaking, genotyping’s weakness is that it can only recognize previously identified markers. This is one reason DNA tests’ accuracy relies so heavily on the DNA database size; there must be enough information available and identified genetic variants in the database to recognize new customers’ markers.
The first kit I try is Thriva’s baseline test (£49), which, like all its products, checks your blood. The box arrives promptly enough (containing spring-loaded needles, a little collection tube, antiseptic wipes, plasters, etc), but there’s a problem. The idea is to prick your finger and massage blood into the tube, but I just end up making my fingers sore and what I get out barely smears the top of the phial. Maybe it’s just me, but it turns into a right faff. In the end, I take advantage of Thriva’s service to send someone out to take a sample of blood from my arm.