Genetic testing

DNA testingDNA analysisDNA test
In the United States, most DTC genetic test kits are not reviewed by the Food and Drug Administration (FDA), with the exception of a few tests offered by the company 23andMe. As of 2019, the tests that have received marketing authorization by the FDA include 23andMe's genetic health risk reports for select variants of BRCA1/BRCA2, pharmacogenetic reports that test for selected variants associated with metabolism of certain pharmaceutical compounds, a carrier screening test for Bloom syndrome, and genetic health risk reports for a handful of other medical conditions, such as celiac disease and late-onset Alzheimer's.
Ultimate Family Tree (UFT). 23andMe. Genographic Project. iArchives, Inc.

Genetic genealogy

genetic ancestryGeneticgenetic genealogist
They initially offered eleven marker Y-Chromosome STR tests and HVR1 mitochondrial DNA tests. They originally tested in partnership with the University of Arizona. In 2007, 23andMe was the first company to offer a saliva-based direct-to-consumer genetic testing. It was also the first to implement using autosomal DNA for ancestry testing, which other major companies (e.g. Ancestry, Family Tree DNA and MyHeritage) also later implemented. By August 2019 it was reported that about 30 million people had had their DNA tested for genealogical purposes. GEDmatch said about half of their profiles were American.

Family Tree DNA

FamilyTreeDNAFTDNAFamilyTree DNA
FamilyTreeDNA offers analysis of autosomal DNA, Y-DNA, and mitochondrial DNA to individuals for genealogical purpose. With a database of more than two million records, it is the most popular company worldwide for Y-DNA and mitochondrial DNA, and the fourth most popular for autosomal DNA. In Europe, it is the most common also for autosomal DNA. FamilyTreeDNA was founded based on an idea conceived by Bennett Greenspan, a lifelong entrepreneur and genealogy enthusiast. In 1999, Greenspan had entered semi-retirement and was working on his family history. He began work on his mother's Nitz lineage.

Living DNA

After getting DNA tests results from three different companies to know if his "dad's family came from Russia", David Gewirtz says, "the results I got back from Ancestry and 23andMe were shocking and upsetting would be an understatement." While "the results from Living DNA were substantially different and led to some fascinating insights that were actually really cool, rather than painful." *


Genealogical DNA test. List of genetic genealogy topics. List of haplogroups of notable people. Indian maternal gene pool, Journal of Human Genetics''. Dienekes' Anthropology Blog frequent highlights of new results. Y Chromosome Consortium. ISOGG Y-DNA Haplogroup Tree. PhyloTree's Y-tree A minimal reference phylogeny for the human Y-chromosome. Haplogroup Predictor. The Y Chromosome Consortium (2002), A Nomenclature System for the Tree of Human Y-Chromosomal Binary Haplogroups, Genome Research, Vol. 12(2), 339–48, February 2002. (Detailed hierarchical chart has conversions from previous naming schemes).

Mitochondrial DNA

mtDNAmitochondrialmitochondrial genome
This is usually accomplished on human mitochondrial DNA by sequencing the hypervariable control regions (HVR1 or HVR2), and sometimes the complete molecule of the mitochondrial DNA, as a genealogical DNA test. HVR1, for example, consists of about 440 base pairs. These 440 base pairs are compared to the same regions of other individuals (either specific people or subjects in a database) to determine maternal lineage. Most often, the comparison is made with the revised Cambridge Reference Sequence. Vilà et al. have published studies tracing the matrilineal descent of domestic dogs from wolves.


Family Tree Builder
As of 2019, about 2.5 million MyHeritage DNA kits have been sold, making it the third most popular genealogical DNA testing company In April 2019, MyHeritage began releasing data from a new DNA chip. In May 2019, MyHeritage launched the MyHeritage DNA Health+Ancestry test, a test that provides comprehensive health reports to consumers. The Tribal Quest Expedition project is MyHeritage's pro bono project to record the family histories of tribal peoples. It also has a program to match descendants of Holocaust survivors with property taken from their family. In 2013, MyHeritage was selected by Globes as the most promising Israeli startup for 2013–2014.

Genetic Information Nondiscrimination Act

Genetic Information Nondiscrimination Act of 2008Genetic Information Non-discrimination ActGenetic Information Nondiscrimination Act (GINA)
Genealogical DNA test. Gattaca. Genetic privacy. Full text of GINA in its final form from GovTrack. National Human Genome Research Institute (NIH). Coalition for Genetic Fairness., Genetic Information Nondiscrimination Act of 2007., Genomics and Personalized Medicine Act of 2007. Your GINA resource. Genetic Alliance. Genetic Discrimination Saves Lives - Editorial arguing against the bill.

Genographic Project

The Genographic ProjectGeno 2.0 Next GenerationGenographic
Genealogical DNA test. Genetic diversity. Human genetics. Human genetic variation. Human migration. Human mitochondrial DNA haplogroups. Human Y-chromosome DNA haplogroups. Mitochondrial Eve. Y-chromosomal Adam. Y-chromosome haplogroups in populations of the world. Personal Genomics. Genographic Project official site at National Geographic. Helix. Arizona Research Laboratories (ARL). Waitt Family Foundation. "Indigenous Peoples Oppose National Geographic", Indigenous Peoples Council on Biocolonialism, 13 April 2005. "Tracking the Truth", DB2 Magazine (IBM), information about IBM's role in the project. December 2006. Genographic Success Stories.


deoxyribonucleic aciddouble-stranded DNAdsDNA
Deoxyribonucleic acid (DNA) is a molecule composed of two chains that coil around each other to form a double helix carrying genetic instructions for the development, functioning, growth and reproduction of all known organisms and many viruses. DNA and ribonucleic acid (RNA) are nucleic acids; alongside proteins, lipids and complex carbohydrates (polysaccharides), nucleic acids are one of the four major types of macromolecules that are essential for all known forms of life.


genomesgenetic materialgenomic
In the fields of molecular biology and genetics, a genome is the genetic material of an organism. It consists of DNA (or RNA in RNA viruses). The genome includes both the genes (the coding regions) and the noncoding DNA, as well as mitochondrial DNA and chloroplast DNA. The study of the genome is called genomics.


Saliva is an extracellular fluid produced and secreted by salivary glands in the mouth. In humans, saliva is 99.5% water plus electrolytes, mucus, white blood cells, epithelial cells (from which DNA can be extracted), enzymes (such as amylase and lipase), antimicrobial agents such as secretory IgA, and lysozymes.


autosomalautosomal DNAautosomes
An autosome is a chromosome that is not an allosome (a sex chromosome). The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome pairs which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA.

Illumina, Inc.

IlluminaSolexaIllumina (company)
Illumina, Inc. is an American company. Incorporated in April 1998, Illumina develops, manufactures, and markets integrated systems for the analysis of genetic variation and biological function. The company provides a line of products and services that serves the sequencing, genotyping and gene expression, and proteomics markets. Its headquarters are located in San Diego, California.


chromosomeschromosomalChromosomal number
Genealogical DNA test. Lampbrush chromosome. List of number of chromosomes of various organisms. Locus (explains gene location nomenclature). Maternal influence on sex determination. Non-disjunction. Sex-determination system. XY sex-determination system. X-chromosome. X-inactivation. Y-chromosome. Y-chromosomal Aaron. Y-chromosomal Adam. Polytene chromosome. Neochromosome. Parasitic chromosome. An Introduction to DNA and Chromosomes from HOPES: Huntington's Outreach Project for Education at Stanford. Chromosome Abnormalities at AtlasGeneticsOncology. On-line exhibition on chromosomes and genome (SIB). What Can Our Chromosomes Tell Us?


In May 2008 Cariaso, using Promethease, won an online contest sponsored by 23andMe to determine as much information as possible about an anonymous woman based only on her genome. Cariaso won in all three categories of "accuracy, creativity and cleverness". In 2009, the anonymous woman ("Lilly Mendel") was revealed to be 23andMe co-founder Linda Avey, allowing a direct comparison between her actual traits and those predicted by Promethease a year earlier.

Human genome

genomehuman DNAhuman geneticist
These sequences are highly variable, even among closely related individuals, and so are used for genealogical DNA testing and forensic DNA analysis. Repeated sequences of fewer than ten nucleotides (e.g. the dinucleotide repeat (AC) n ) are termed microsatellite sequences. Among the microsatellite sequences, trinucleotide repeats are of particular importance, as sometimes occur within coding regions of genes for proteins and may lead to genetic disorders. For example, Huntington's disease results from an expansion of the trinucleotide repeat (CAG) n within the Huntingtin gene on human chromosome 4.

CeCe Moore

As a result of discovering that her brother-in-law is a direct descendant of Thomas Jefferson and Sally Hemings after a 23andMe test revealed unexpected African ancestry, Moore founded the Hemings/Jefferson Autosomal DNA Project. In 2018 Moore joined Parabon NanoLabs as head of their genetic genealogy unit and had three genealogists working for her. Parabon investigates cold cases using genetic genealogy. In September 2018 Moore said she was able to solve about half of the cases on which she was working. In February 2019 she was optimistic that most cold cases could be solved using public DNA data in a few years.

Genetic privacy

genetic datagenetic information privacyprivacy of genetic information
As such, one's genetic code can be used to infer many characteristics about an individual, including many potentially sensitive subjects such as: Many types of direct-to-consumer DNA tests have been released that allow individuals to obtain genetic information from tissue obtained from the mouth, such as a cheek scraping (performed with a swab), an individual's saliva, or chewing gum. One of the most popular reasons for at-home genetic testing is to obtain information on an individual's ancestry via genealogical DNA testing and is offered by many companies such as 23andMe, AncestryDNA, Family Tree DNA, or MyHeritage.

DNA database

national DNA databasedatabasesDNA databases
DNA profiles can also be used for genealogical purposes, so that a separate genetic genealogy database needs to be created that stores DNA profiles of genealogical DNA test results. GenBank is a public genetic genealogy database that stores genome sequences submitted by many genetic genealogists. Until now, GenBank has contained large number of DNA sequences gained from more than 140,000 registered organizations, and is updated every day to ensure a uniform and comprehensive collection of sequence information. These databases are mainly obtained from individual laboratories or large-scale sequencing projects.

Gene by Gene

FamilyTreeDNAGene by Gene, Ltd.
Myriad genetics. 23andMe. Pathway Genomics. Mygene. Gene by Gene website. Family Tree DNA Website. DNA Traits website. DNA DTC website. DNA Findings website.


The rise of personal DNA testing, after the turn of the century, by companies such as Gene by Gene, FTDNA, GeneTree, 23andMe, and, has led to public and semipublic databases of DNA testing which uses crowdsourcing techniques. In recent years, citizen science projects have become increasingly focused providing benefits to scientific research. This includes support, organization, and dissemination of personal DNA (genetic) testing. Similar to amateur astronomy, citizen scientists encouraged by volunteer organizations like the International Society of Genetic Genealogy, have provided valuable information and research to the professional scientific community.

Anne Wojcicki

In 2006, she co-founded 23andMe with Linda Avey. 23andMe is a privately held personal genomics and biotechnology company, based in Sunnyvale, California, that provides genetic testing. The company is named for the 23 pairs of chromosomes in a normal human cell. The company's personal genome test kit was named "Invention of the Year" by Time magazine in 2008. From 2015, the FDA started to give approval to 23andMe's health-related tests, including risk from cystic fibrosis, sickle cell anemia, certain cancers, Alzheimer's, Parkinson's, and coeliac disease. In 2018, 23andMe entered into a four-year collaboration with GlaxoSmithKline to develop new medicines.