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.
Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss among older adults. The disease results in damage to the central part of the retina (the macula), impairing vision needed for reading, driving, or even recognizing faces. This test includes the two most common variants associated with an increased risk of developing the condition.
Costs vary depending on the company you buy from. For example, the three most popular DNA ethnicity tests are undertaken by 23andMe, Family Tree DNA (FTDNA) and Ancestry.com. They all analyse autosomal DNA to report on your ethnic mix: 23andMe’s costs £149, FTDNA’s (named the ‘Family Finder’ test) costs £60 and Ancestry.com’s (named ‘AncestryDNA’) costs £79. However, it’s worth bearing in mind that 23andMe’s test also includes a Y DNA analysis and a mitochondrial DNA analysis, so if you’re interested in your paternal and maternal lineage (discussed below), this may be the more cost-effective choice!
A DNA profile can also be adapted to produce artwork. Several companies will use the profiling technique discussed above, but they’ll combine florescent colours with your genetic markers to produce bands that look a bit like a barcode. These bands can be mounted on canvas, wood, metal or other materials to create a piece of art that can be displayed in your home. They can also be digitised and customised with different colours or background themes to make a range of ‘DNA portraits’. One company, Dot One, even makes scarves and rugs inspired by these patterns!
Although reference populations are the primary method by which companies calculate your ethnic mix, they don’t represent actual living populations. Instead, they’re a theoretical group who share a unique set of genetic variants, believed to belong to a distinct ethnic group in the past. This is why an ethnicity DNA test will show you that you’re a mix of different ethnicities, instead of placing you in a single ethnic group.
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.
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.
In order to truly understand what a DNA estimate is, we have to get a little bit scientific. The DNA testing companies use something called “sample populations” in order to give you your ethnicity estimate. Their laboratories compare your DNA with that of thousands of people from all over the world. In order to become a part of the same population, the participants would have needed to prove that they and their ancestors have lived in the same geographic area for several generations. Their DNA is then grouped by geographic area.