23andMe/ Health Data

23andMe is a biotechnology company that provides consumer genetic testing and analysis services. The company was founded by Linda Avey, Paul Cusenza, and Anne Wojcicki in April 2006 based in San Francisco, California. The company is publicly traded with the NASDAQ ticker symbol ME. The name 23andMe is derived from the 23 pairs of chromosomes in a human cell.

Their main offering is a genetic testing service that gives individuals the chance to learn more about their ancestry, health-related genetic traits, and genetic predispositions to certain health conditions. The process is simple, customers just provide a saliva sample, which is then analyzed in a laboratory to produce a personalized genetic report. The company is notable for this simplistic form of sampling DNA from the consumer. The consumer provides a saliva sample in a vial that is mailed back to the lab for analysis. This was named Times Invention of the Year in 2008.

These reports can be incredibly informative, providing details on a person's ancestry, including ancestry composition, haplogroups, and even potential connections to relatives who have taken the test. The reports also cover important health information, such as genetic health risks and carrier status for certain genetic conditions. 23andMe's genetic testing has the potential to greatly impact the field of personalized medicine, but it has also faced its fair share of criticism and controversy, particularly surrounding privacy and ethical concerns.

History

In 2007, the company received its first funding from Google Ventures, and by 2013, the company had raised over $160 million in venture capital. The company offers a variety of genetic testing services, including Ancestry Reports, Health Reports, and Traits Reports. The Ancestry Reports provided by 23andMe offer a detailed analysis of an individual's genetic makeup, including information about their ancestry and potential relatives. The Health Reports provide information about an individual's potential genetic health risks, as well as personalized recommendations for maintaining good health. The Traits Report provides information about an individual's unique physical and behavioral characteristics, such as eye color, bald spot areas, hair texture, and taste preferences. 23andMe offers these reports as packages that contain a subset of the total report.

Products and Services

23andMe offers consumers reports on their genetic information such as ancestry report, health report, and traits report. 23andMe offers these reports as packages that contain a subset of the total report. Consumers can choose between three packages: “Ancestry + Traits Service” ($99), “Health + Ancestry Service” ($199), and “23andMe Membership”($199 + $29/year). The Ancestry + Traits Service package includes information about an individual's ancestry and physical characteristics, while the Health + Ancestry Service package includes information about an individual's ancestry, physical characteristics, and potential health risks.

Ancestry + Traits Service

The Ancestry + Traits Service is 23andMe’s base option for genetic testing that includes an ancestry report detailing the consumers’ ancestry composition out of 2000+ regions worldwide, Neanderthal ancestry showing how many Neanderthal variants the consumer has compared to other people, DNA Relative finder that finds and connect relatives in the 23andMe database who share DNA, and building a family tree based on the users’ DNA in the database. The Traits package contains reports on genes that contribute to peoples’ physical appearance and senses.

Health + Ancestry Service

The Health+Ancestry Service includes the same ancestry test as the Ancestry+Traits Service but does not include the traits report. This package includes additional health reports that include Health Predisposition Reports, Carrier Status Reports, Wellness Reports and Family History Tree. The Health Predisposition Reports details the genetic likelihood of health issues such as asthma, glaucoma, skin cancer, etc. The Carrier Status Reports shows variants in specific genes for diseases such as cystic fibrosis, tay-sachs disease, etc.

23andMe+ Membership

The 23andMe+ Membership package includes all of the information provided in the other two packages, as well as access to additional features such as personalized health recommendations and the ability to connect with potential relatives.

Research Teams

Data Collection Team

In addition to its genetic testing services, 23andMe also collects phenotypic data from its customers through self-report surveys. This data covers a wide range of topics, from wellness and behavior to diseases and chronic conditions. The company's Data Collection Team has expertise in fields such as public health, epidemiology, biostatistics, social sciences, and psychology, ensuring the quality of the phenotypic data collected. The phenotypic data collected by 23andMe includes over 100 million data points specifically related to serious illnesses, allowing the company to develop reports about disease risk and work towards discovering new medicines through its Therapeutics division. To further innovate and collect data, 23andMe also conducts online assessments, such as cognitive evaluations and the first-ever online cold pressor test.

Genomics R&D Team

23andMe's Research Team is comprised of computational biologists, statistical geneticists, and bioinformaticians. This group is responsible for developing and improving the core methods used to make genetic discoveries and support scientific efforts across the company. With access to one of the largest genomic datasets in the world, 23andMe's expertise in statistics has made the company a leader in the study of human traits and diseases. The team uses genome-wide association studies (GWAS) with sample sizes that can exceed one million participants to identify genetic associations with various conditions such as Parkinson's, spontaneous preterm birth, susceptibility to common infections, and schizophrenia. The company has also contributed to one of the largest phenome-wide association studies (PheWAS) to date. In an effort to continue advancing genomics research, the Research Team is constantly innovating and applying new methods to their work. They are developing better methods for detecting shared identity-by-descent (IBD) segments, building trait prediction models, and applying machine learning techniques to impute markers in complex regions of the genome. The team is also investigating the action of negative selection within linkage disequilibrium-dependent architecture and developing methods for identifying causal relationships between pairs of traits. The Research Team also leverages external data sources and performs whole-genome sequencing in populations of interest to further diversity in genomics research. Additionally, the team works to convert answers from survey questions into phenotypes and develop phasing methods and imputation panels to aid their fine-mapping efforts.

Ethics & Policy Team

The Research Ethics and Policy Team at 23andMe places a high value on respecting research participants. The team addresses various issues related to the company's groundbreaking research program, including informed consent, recruitment, privacy, and data sharing and management. With over 80% of customers providing consent to participate in research, the team evaluates new forms of research recruitment based on genetic and phenotype data to minimize harm and maximize benefits to participants. To ensure privacy, the team implements policies around data handling and sharing to maximize the impact of the massive research database. The company's Ethical, Legal, and Social Implications (ELSI) work is of great relevance to the research ethics and genomics communities, as it contributes to the national discussion of genomics data management. The Research Ethics and Policy Team also ensures that 23andMe's research complies with laws and regulations in each country where research is conducted, including the Common Rule in the United States and the EU's General Data Protection Regulation. In the US, research protocols are reviewed by Salus IRB, an independent AAHRPP-accredited Institutional Review Board. The regulatory scientists at 23andMe maintain Certified IRB Professional credentials and have previous experience working with IRBs.

Program Management and Operations Team

The Program Management and Operations Team is responsible for the success of these massive and complex studies. The project managers serve as the main point of contact for stakeholders and guide the studies to successful completion. The research assistants work directly with participants, answering their questions and addressing any concerns they may have about participating in the studies. To further advance scientific knowledge, 23andMe makes sure that its published research is made available to the wider scientific community by overseeing the review process and striving to make the papers available for open access. The company's Projects page provides a glimpse into the diverse range of collaborations facilitated by the team, and its How to Collaborate page provides information on how researchers and partners can work with the company.

FDA controversy

In 2013, 23andMe received a warning letter from the US Food and Drug Administration (FDA) to discontinue marketing its health-related genetic tests in the United States until it completed the agency’s regulatory review process. As a result, the company only provided Ancestry Reports and raw data to customers until October 2015.

In October 2015, 23andMe launched a new service that reflected almost two years of work with regulators, scientists, medical experts, and product designers. This resulted in the first direct-to-consumer test available directly to individuals in the United States that includes reports that meet FDA requirements for being scientifically and clinically valid. The company continues to seek FDA authorization to offer new reports.

On April 6, 2017, the FDA granted 23andMe authorization to market Late-Onset Alzheimer's Disease, Parkinson's Disease, and Hereditary Thrombophilia genetic health risk reports, along with other reports.

On March 6, 2018, the company received the first-ever FDA authorization for a direct-to-consumer genetic test for cancer risk. In January 2019, 23andMe received FDA clearance to report on the two most common genetic variants influencing MUTYH-associated polyposis (MAP), a hereditary colorectal cancer syndrome. Customers who were genotyped on the company’s most recent platforms now have access to these reports.

Ethical Issues

Privacy Conecerns

The company went public in June 2021 and was acquired by Spac, a company founded by Richard Branson. This acquisition raised concerns about the privacy of consumer genetic information. However, 23andMe has emphasized that it will continue to adhere to its previous privacy policy and will only share anonymized information when explicitly consented to by customers. These concerns about disclosing consumer data include the potential for family secrets to be revealed or for government agencies to gain access to DNA information. Additionally, there is a concern about the consequences of hackers obtaining this sensitive information and potentially causing harm with the data. In order to address these concerns, 23andMe has implemented strict security measures to protect consumer data. These measures include encryption of all data stored on their servers, regular security audits, and strict access controls for employees and third-party partners. The company also offers customers the option to delete their data from the company's servers at any time.

Discriminatory Concerns

23andMe has received significant attention for its genetic testing services and has been praised for its ability to provide consumers with valuable information about their genetic makeup and potential health risks. However, the company has also faced criticism from some who believe that the information provided by the company could be misinterpreted or used to discriminate against individuals with certain genetic markers. For example, it has been reported that some members of the alt-right have used 23andMe's testing services to assert their racial identity and perpetuate racist beliefs on subreddits and 4chan.

This raises important ethical questions about the responsible use of genetic information and the potential consequences of genetic testing. It is essential for companies like 23andMe to have robust data privacy policies in place to ensure that participant information is kept confidential and secure and to prevent the misuse of genetic information for discriminatory purposes.

Discrimination in Employment and Health Insurance

Genetic information is highly sensitive and personal, making privacy a critical concern for individuals who participate in 23andMe research studies. Many people are worried that their genetic information could be used against them by third parties, such as insurance companies or employers. This could result in employment or health insurance discrimination based on an individual's genetic markers.

For example, in 2008, the Genetic Information Nondiscrimination Act (GINA) was passed in the United States to prevent genetic discrimination in the workplace and in health insurance. However, the scope of this legislation is limited, and there are still concerns about the potential misuse of genetic information.

To date, 23andMe has implemented various privacy measures, such as secure data storage and encrypted transmission of genetic information. The company also provides participants with the option to control how their data is used, such as opting out of research studies or declining to share their information with third parties. However, it is still a major concern for the participants who are enrolled in the research program if data unexpectedly gets leaked.

Pyschological Effects

One of the biggest debates surrounding 23andMe has to do with the psychological impact that genetic information can have on individuals. Critics worry that receiving genetic information, such as a higher risk for a certain disease or unexpected results about one's traits, could lead to feelings of fear, worry, or disappointment.

The company offers a wealth of educational resources to help users better understand and interpret their results and has set guidelines and protocols to minimize potential harm. Additionally, 23andMe has teamed up with mental health organizations to provide support and resources for users who may be experiencing emotional distress after receiving their genetic test results.

Despite these efforts, the ethical concerns about the psychological impact of 23andMe's services remain a hotly debated topic among experts in genetics and ethics. Some believe that the company's services can have a deep and lasting effect on a person's well-being and that more needs to be done to make sure users are fully prepared and informed about the potential consequences of their results.

Designer Babies

The topic of designer babies raises a lot of ethical questions and controversies. Some believe that the desire to create genetically "perfect" babies could lead to a world in which people are judged and separated based on their genes, leading to increased discrimination. Others worry that the technology could be used to design babies with certain characteristics, such as intelligence or physical ability, leading to a revival of eugenics.

In the case of 23andMe, the company's genetic testing services have sparked concerns over the possibility of individuals selecting partners based on their genetic profiles, with the intention of creating "designer babies." This notion of creating a "checklist" when choosing a partner has been criticized as an "instrumentalization" of both babies and reproductive partners.

The use of genetic information for the purpose of selecting traits in offspring continues to be a controversial and highly debated topic. The ethical dilemma of whether the pursuit of genetic perfection is worth the potential consequences still remains a critical question in the ongoing discussion surrounding designer babies and the influence of companies like 23andMe on the future of reproductive technology.

People can select different options that 23andMe offers, such as Ancestry and Traits and Health and Ancestry. The company also provides a membership called 23andMe+. Customers provide a sample of their spit, and it takes 1 to 2 business days for the sample to return to 23andMe for analysis. After 3 or 4 weeks, the report is ready for the customer to see.