ARSACS Agenesis of the Corpus Callosum with Peripheral Neuropathy Autosomal Recessive Polycystic Kidney Disease Beta Thalassemia and Related Hemoglobinopathies Bloom Syndrome Canavan Disease Congenital Disorder of Glycosylation Type 1a (PMM2-CDG) Cystic Fibrosis D-Bifunctional Protein Deficiency Dihydrolipoamide Dehydrogenase Deficiency Familial Dysautonomia Familial Hyperinsulinism (ABCC8-Related) Familial Mediterranean Fever Fanconi Anemia Group C GRACILE Syndrome Gaucher Disease Type 1 Glycogen Storage Disease Type Ia Glycogen Storage Disease Type Ib Hereditary Fructose Intolerance Herlitz Junctional Epidermolysis Bullosa (LAMB3-Related) Leigh Syndrome, French Canadian Type Limb-Girdle Muscular Dystrophy Type 2D Limb-Girdle Muscular Dystrophy Type 2E Limb-Girdle Muscular Dystrophy Type 2I MCAD Deficiency Maple Syrup Urine Disease Type 1B Mucolipidosis Type IV Neuronal Ceroid Lipofuscinosis (CLN5-Related) Neuronal Ceroid Lipofuscinosis (PPT1-Related) Niemann-Pick Disease Type A Nijmegen Breakage Syndrome Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related) Pendred Syndrome and DFNB4 Hearing Loss (SLC26A4-Related) Phenylketonuria and Related Disorders Primary Hyperoxaluria Type 2 Rhizomelic Chondrodysplasia Punctata Type 1 Salla Disease Sickle Cell Anemia Sjögren-Larsson Syndrome Tay-Sachs Disease Tyrosinemia Type I Usher Syndrome Type 1F Usher Syndrome Type 3A Zellweger Syndrome Spectrum (PEX1-Related)
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.
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.
23andMe is one of the most recognizable names in the consumer DNA testing industry. It boasts over five million users and offers five distinct ancestry reports, as well as optional relative matching. 23andMe’s ancestry testing service is our pick for the best overall DNA test because it’s easy-to-use and understand, gives you a variety of information based on your DNA sample alone, and offers an FDA approved health screening upgrade.
If you want to obtain your DNA profile for either of these reasons, we recommend that you purchase a ‘legal’ version instead of a ‘peace of mind’ version. Legal DNA profiles cost more and the samples need be taken in the presence of a health professional so that your identity can be verified. This means that legal profiles are admissible in court, as opposed to profiles produced for peace of mind which are not. You can read more about the differences between legal and peace of mind tests in our article: What is legal DNA testing?
Autosomal DNA Tests: These type of tests have become extremely popular over the last couple of years as prices have dropped and the amount and accuracy of the results has increased. Autosomal testing looks at information across the genome to provide clues to our personal ancestral history on a much broader scale than either mtDNA or Y-DNA testing can. While this type of genetic testing is an ever evolving science, you can expect to get a general breakdown of your ancestors’ geographical origins (your admixture) as well as connections with people who share your ancestry. This can be a unique and exciting way to tear down those brick walls and uncover branches of your family tree you never knew you had. For some, the results can be surprising and enlightening–for others, there can be a simple verification of already known information and even some disappointment in discovering nothing new.