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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DNA test companies that use genotyping technology, including 23andMe and Ancestry, allow you to download your raw DNA file. A raw DNA file is usually a text file that contains all the information about your genetic code gleaned from the company’s examination of your DNA. This is comprised of several hundred thousand markers known as SNPs (Single Nucleotide Polymorphisms). Most raw files are organized into five columns: the SNP coded into an rsID number, the chromosome the SNP is located on, the location of the SNP on the chromosome and the two alleles for each SNP.
“My concern is that more and more of these tests are being put out, and people are being persuaded to have these tests done, and they get results back that are very often of very low value and dubious helpfulness,” she says. “And often people are told to go to see their GP and that then places a direct stress on the NHS, at no cost to the company. The companies make their profits and walk away, letting the NHS sort out all the fallout, the push-back, from the test results, in a way I find absurd. Why should the NHS have to prop up the problems that these companies create?”
If this individual used several different companies for DNA testing, they might get an idea as to their past origins based on the moderate or high similarities of the people currently living in different regions throughout Africa. This is only possible if the companies have established the correct reference populations. This person must understand their DNA is being matched to the current population as opposed to the people who occupied the region hundreds of years in the past. It is just as possible the results would state this African-American individual is 75 percent European. This is because the ancestry markers chosen are only for a small percentage of this individual’s DNA. The African population has a more genetic diversity in itself than a European population and an African population.
I recommend one of two options. It may cost a little more, but I would highly recommend saving the extra and using DNA Tribes® rather than spending over half the cost for minimal tribal/biogeographical pinpointed information. The primary benefit of STR rather than SNP testing is the availability of rich reference data. DNA Tribes® tests industry standard autosomal STR systems, which allow the identification of a person’s DNA profile not shared with any other person. Because these STR markers have been tested and used in the court systems around the world, they allow DNA Tribes® to perform the most thorough comparison of a person’s own DNA profile to over 1,200 ethnic groups (populations) around the world. At present, SNP testing from these other autosomnal DNA testing kits does not yet match the geographical detail of DNA Tribes® autosomal STR analysis.
Another key customer type could be people like myself, hurtling through middle age, perhaps just starting to feel the cold bony hand of mortality clamp down on their shoulder. People, who, in the past, may not have exactly prioritised their health, who are starting to wonder what may be in store for them and who are in the (“Hypochondriacs R Us”) market for some hard-core insight and advice.