23andMe

src: www.23andme.com

23andMe is a privately held personal genomics and biotechnology company based in Mountain View, California. The company is named for the 23 pairs of chromosomes in a normal human cell. Its saliva-based direct-to-consumer genetic testing business was named Invention of the Year by Time magazine in 2008.

In 2013 the US Food and Drug Administration (FDA) ordered 23andMe to discontinue marketing its personal genome service (PGS), as the company had not obtained the legally required regulatory approval. That resulted in concerns about the potential consequences of customers receiving inaccurate health results. The company continued to sell a personal genome test without health-related results in the United States until October 21, 2015, when it announced that it would be including a revised health component with FDA approval. 23andMe has been selling a product with both ancestry and health-related components in Canada since October 2014, and in the United Kingdom since December 2014.

Privacy concerns have been raised about the collection and storage of extensive medical information, as well as how this information can be used by researchers, pharmaceutical companies, and for marketing purposes.

Video 23andMe

Company history

The company was founded by Linda Avey, Paul Cusenza and Anne Wojcicki in 2006 to provide genetic testing and interpretation to individual consumers. In 2007, Google invested $3,900,000 in the company, along with Genentech, New Enterprise Associates, and Mohr Davidow Ventures. Wojcicki was married to Google co-founder Sergey Brin at the time.

Cusenza left the company in 2007 and was appointed CEO of Nodal Exchange in 2008. Avey left the company in 2009 and co-founded Curious, Inc. in 2011.

In 2012, 23andMe raised $50 million in a Series D venture round, almost doubling its existing capital of $52.6 million. In 2015, 23andMe raised $115 million in a Series E offering, increasing its total capital to $241 million.

The company sponsored the PBS TV series "9 Months That Made You".

The company had not turned a profit as of October 2015.

Another $250 million of financing was raised in September 2017, led by new investor Sequoia Capital. Sequoia is joined in the financing by new investors Euclidean Capital, Altimeter Capital and the Wallenberg Foundation.

Maps 23andMe

Products and services

Direct to consumer genetic testing

23andMe began offering direct to consumer genetic testing in November 2007. Customers provide a saliva testing sample that is partially SNP genotyped and results are posted online. In 2008, when the company was offering estimates of "predisposition for more than 90 traits and conditions ranging from baldness to blindness", Time magazine named the product Invention of the Year.

Uninterpreted raw genetic data may be downloaded by customers. Customers who bought tests with an ancestry-related component have online access to genealogical DNA test results and tools including a relative-matching database. US customers who bought tests with a health-related component and received health-related results before November 22, 2013 have online access to an assessment of inherited traits and genetic disorder risks. Health-related results for US customers who purchased the test from November 22, 2013 were suspended until late 2015 while undergoing an FDA regulatory review. Customers who bought tests from 23andMe's Canadian and UK locations have access to some health-related results.

As of June 2015, 23andMe has genotyped over 1,000,000 individuals. FDA marketing restrictions reduced customer growth rates but by 2017 they had tested 2,000,000 individuals.

As of April 2017, FDA allowed marketing of 23andMe Personal Genome Service Genetic Health Risk (GHR) tests for 10 diseases or conditions. These are the first direct-to-consumer (DTC) tests authorized by the FDA that provide information on an individual's genetic predisposition to certain medical diseases or conditions, which may help to make decisions about lifestyle choices or to inform discussions with a health care professional.

Product changes

In late 2009, 23andMe split its genotyping service into three products with different prices, an Ancestry Edition, a Health edition, and a Complete Edition. This decision was reversed a year later when the different products were recombined. In late 2010 the company introduced a monthly subscription fee for updates based on new medical research findings. The subscription model proved unpopular with customers and was eliminated in mid-2012.

23andMe sold only raw genetic data and ancestry-related results in the United States due to FDA restrictions from November 22, 2013 until October 21, 2015, when it announced that it would resume providing health information in the form of carrier status and wellness reports with FDA approval. Wojcicki said they still plan to report on disease risk, subject to future FDA approval.

The price of the full direct-to-consumer testing service in the United States reduced from $999 in 2007 to $399 in 2008 and to $99 in 2012, and was effectively being sold as a loss leader in order to build a valuable customer database. In October 2015, the US price was raised to $199. In September 2016, an ancestry-only version was once again offered at a lower price of $99 with an option to upgrade to include the health component for an additional $125 later.

The initial price of the product sold in Canada from October 2014, which includes health-related results, was C$199. The initial price of the product sold in the UK from December 2014, which includes health-related results, was £125.

Instrument and chip versions

Up until 2010 Illumina sold only instruments that were labeled "for research use only"; in early 2010 Illumina obtained FDA approval for its BeadXpress system to be used in clinical tests.

Medical research

Aggregated customer data is studied by scientific researchers employed by 23andMe for research on inherited disorders. The large pool of data in its customer database has also attracted the interest of academics and other partners, including pharmaceutical and biotechnology companies. In July 2012, 23andMe acquired the startup CureTogether, a crowdsourced treatment ratings website with data on over 600 medical conditions.

23andMe provides services related to some specific medical research initiatives, providing confidential customer datasets to and partnering with researchers to establish genetic associations with specific illnesses and disorders. One analysis comparing 23andMe's Parkinson's disease research with a National Institutes of Health initiative suggested that the company's use of large amounts of computational power and datasets might offer comparable results, in much less time. 23andMe has launched research initiatives enrolling patients into study populations for inflammatory bowel disease, myeloproliferative neoplasms, and lupus. Papers on various genetic traits by 23andMe scientists were presented at the 2014 American Society of Human Genetics.

In 2015, 23andMe made a business decision to pursue drug development themselves, under the direction of former Genentech executive Richard Scheller, as opposed to supplying pharmaceutical companies with raw data.

AncestryDNA vs 23andMe vs FamilyTreeDNA vs Living DNA - Nanalyze

src: cdn.nanalyze.com

Relationship with government regulators

The new genetic testing service and ability to map significant portions of the genome has raised controversial questions, including whether the results can be interpreted meaningfully and whether they will lead to genetic discrimination. The regulatory environment for testing companies has been uncertain, and anticipated risk-based regulation catering for different types of genetic tests has not yet materialized.

State regulators

In 2008 the states of New York and California each provided notice to 23andMe and similar companies, that they needed to obtain a CLIA license in order to sell tests in those states. By August 2008, 23andMe had received licenses that allow them to continue to do business in California.

FDA

According to Anne Wojcicki, 23andMe had been in dialogue with the FDA since 2008. In 2010 the FDA notified several genetic testing companies, including 23andMe, that their genetic tests are considered medical devices and federal approval is required to market them; a similar letter was sent to Illumina, which makes the instruments and chips used by 23andMe in providing its service. 23andMe first submitted applications for FDA clearance in July and September 2012.

In November 2013, the FDA published a guidance on how it classified genetic analysis and testing services offered by companies using instruments and chips labelled for "research use only" and instruments and chips that had been approved for clinical use.

At around the same time, after not hearing from 23andMe for six months, the FDA ordered 23andMe to stop marketing its Saliva Collection Kit and Personal Genome Service (PGS), as 23andMe had not demonstrated that they have "analytically or clinically validated the PGS for its intended uses" and the "FDA is concerned about the public health consequences of inaccurate results from the PGS device". As of December 2, 2013, 23andMe had stopped all advertisements for its PGS test but is still selling the product. As of December 5, 2013, 23andMe was selling only raw genetic data and ancestry-related results.

23andMe publicly responded to media reports on November 25, 2013, stating, "We recognize that we have not met the FDA's expectations regarding timeline and communication regarding our submission. Our relationship with the FDA is extremely important to us and we are committed to fully engaging with them to address their concerns." Anne Wojcicki subsequently posted an update on the 23andMe website, stating: "This is new territory for both 23andMe and the FDA. This makes the regulatory process with the FDA important because the work we are doing with the agency will help lay the groundwork for what other companies in this new industry do in the future. It will also provide important reassurance to the public that the process and science behind the service meet the rigorous standards required by those entrusted with the public's safety."

On December 5, 2013, 23andMe announced that it had suspended health-related genetic tests for customers who purchased the test from November 22, 2013 in order to comply with the FDA warning letter while undergoing regulatory review.

In May 2014 it was reported that 23andMe was exploring alternative locations abroad including Canada, Australia and the United Kingdom in which to offer its full genetic testing service. 23andMe had been selling a product with both ancestry and health-related components in Canada since October 2014, and in the United Kingdom since December 2014.

In 2014 23andMe submitted a 510(k) application to the FDA to market a carrier test for Bloom syndrome, which included data showing that 23andme's results were consistent and reliable and that the saliva collection kit and instructions were easy enough for people to use without making mistakes that would affect the tests, and included citations to the scientific literature showing that the associations between the specific tests that 23andMe were relevant to Blooms. The FDA cleared the test in February 2015; in the clearance notice the FDA said that it would not require similar applications for other carrier tests from 23andMe. The FDA sent further clarification about regulation of the test to 23andMe on October 1, 2015.

On October 21, 2015, 23andMe announced that it would begin marketing carrier tests in the US again. CEO Anne Wojcicki said, "There was part of us that didn't understand how the regulatory environment works" in regards to the distributed laboratory regulatory functions of FDA and CMS.

23andMe submitted de novo 510(k) applications to the FDA to market tests that provide people with information about whether they have gene mutations or alleles that put them at risk for getting or having certain diseases; the applications included data showing that 23andme's results were consistent and reliable, and that the saliva collection kit and instructions were easy enough for people to use without making mistakes that would affect the tests, and included with citations to the scientific literature showing that the associations between the specific tests that 23andMe were relevant to the diseases. In April 2017, the FDA approved the applications for ten tests: Late-Onset Alzheimer's Disease, Parkinson's Disease, Celiac disease, Hereditary Thrombophilia, Alpha-1 Antitrypsin Deficiency, Glucose-6-Phosphate Dehydrogenase deficiency, Early onset of Dystonia, Factor XI deficiency and Gaucher's Disease. The FDA also said that it intended to exempt further 23andMe genetic risk tests from the needing 501(k) applications, and it clarified that it was only approving genetic risk tests, not diagnostic tests.