Some commercial companies sell genetic tests directly to the public, usually online. These tests claim to tell you about your health risks, your ancestry, who you are related to, and sometimes about your personality or who is a good genetic match for you. Some of these claims are more reliable than others. Your genetic information is stored by the company and you may want to know how else it can be used.
Information in this section will help to answer questions about commercial genetic tests, such as:
How are genetic tests regulated?
Genetic tests are regulated differently depending on where you are and what the test is for. For example, the European Union recently created new laws to regulate genetic tests that are designed to give information on health related issues, such as genetic links to diseases, or harmful reactions to pharmaceutical drugs. The new laws will come into force in 2022, with a transition period until 2025, and will require companies to show clinical evidence to back up any health claims that are made. Currently, there are no EU regulations in place to ensure that any of the health claims being made are clinically proven.
In the US, some commercial tests require marketing authorisation from the Food and Drug Administration. Tests for ancestry, or those deemed as assessing wellness, such as those predicting athletic ability or impacts of lifestyle and dietary choices are not regulated. Some oversight is given to tests designed to predict genetic risk of diseases such as cancers and Parkinson’s disease. Such regulations have forced companies to withdraw tests until they obtained market approval. For example, 23andMe withdrew some of its early genetic tests after the Food and Drug Administration requested they obtain authorisation, due to concerns that unapproved tests could prompt people to take unnecessary measures such as surgery as a result of inaccurate test results.
How reliable are genetic test results?
Because genetic testing is generally underregulated, there is little requirement for companies to validate claims of ancestry, health or other characteristics such as personality and intelligence. Often, companies do not need to share their data, or information on the methods they use, making it impossible to assess the validity of their claims. Additionally, there are no agreed-upon standards of accuracy.
As long as there is the misconception that genes are good predictors of most diseases or adverse drug reactions in most people, many such tests will remain inaccurate and suffer scientific as well as commercial pitfalls. Huge scientific efforts and money have gone into sequencing entire human genomes to find genetic links to disease, including the famous Human Genome Project. However, the hype that this would define a future of genetics-based health solutions for common diseases, has not been delivered in reality. Multiple genetic differences between individuals have only small effects on the risk of common diseases. Further, gene tests cannot account for healthy or unhealthy lifestyles. A specific example is tests for type 2 diabetes. Companies offer genetic tests despite the fact that normal body weight is crucial for the prevention of type 2 diabetes, while genetic risk has been shown to be a limited predictor of disease risk beyond the known risks mediated by body mass index, age and sex. Advice by companies to people to shop for foods based on their DNA test results, instead of paying attention to their weight, may thus be harmful instead of protective.
Companies have often made misleading and even contradictory interpretations of people’s genetic risk for disease, highlighting the flimsiness of their claims. For health tests, attempts to make genetic risk prediction scores for diseases have not been commercially successful. Companies in the past have had to withdraw tests due to their lack of accuracy. In 2019, UK doctors were advised by the Royal College of General Practitioners to ignore genetic tests from consumer tests due to the “very high chance of false positive or false negative results” from direct-to-consumer (DTC) genetic tests and “significant NHS costs in confirming (or more often refuting)” the results.
Because genetic testing is generally underregulated, there is little requirement for companies to validate claims of ancestry, health or other characteristics such as personality and intelligence. In most cases, companies do not need to share their data, or information on the methods they use, making it impossible to assess the validity of their claims. Additionally, there are no agreed-upon standards of accuracy.
People who send their DNA to several ancestry test companies have found that they have different ethnicities depending on the test they use. Inaccuracy will always plague the ancestry testing industry due to fundamental flaws in the underlying scientific logic of these tests and how they are interpreted (see ‘DNA Basics’).
If I buy a DNA test online, is my information private?
The privacy policies of genetic testing companies vary widely, and the small print often goes unread. Some companies allow for sharing with third parties. Information may also be stored in data services such as cloud providers based across national borders.
There are already examples of genetic ancestry test data being used by law enforcement in the United States. While some companies have policies that restrict law enforcement access, this may still occur with a court order, or perhaps without the company’s knowledge. Generally, there are fewer protections for your data with consumer testing kits than there would be if you were taking a medical test, which would be regulated differently.
Identifying people based on a DNA sample raises state surveillance concerns. What if the state wants to track down political dissidents rather than criminals? What if criminal gangs get hold of DNA information to track down victims such as witnesses, or someone fleeing domestic violence?
One example of police use of genetic databases involved GEDMatch, a company where members can upload their DNA results from commercial companies. Police set up a fake account and uploaded a crime scene DNA profile to look for partial matches, identifying distant relatives, such as third cousins based on the family trees constructed by Ancestry.com’s graphics tool. Combining this with public information such as location of the crime scene, they identified two suspects, ruling out one, and identifying the other based on testing the DNA of both of them. GEDmatch was also hacked in 2020, accessing and exposing more than a million users’ profiles. Since then, a technical glitch in the database also resulted in previously deleted data being restored for two days. Privacy settings chosen by users, such as opting out of their data being accessible to police, were also reportedly overridden at one stage.
Although most companies, including GEDmatch, now allow customers to request removal of their data, this example shows how this might sometimes fail in practice. In addition, people may not always be aware of how to do this (see HOW TO: delete your data from commercial company databases ). This raises a serious question about whether some such databases will retain peoples’ data indefinitely, without the consent of users who wish to be removed.
The monetisation of data is increasing the sharing and transfer of information between companies and borders. A recent case is the sharing of DNA from a man, Michael Ursy, who had donated his DNA to a scientific organisation for research. His DNA information was passed on to police after the science organisation had been bought by Ancestry.com. The police obtained a warrant to have their databases searched for a crime case, finding a partial match, resulting in the arrest of his son who fitted the description of the suspect in terms of age and location. He was under suspicion for about a month until his DNA was found not to match the samples taken at the crime scene. Such examples show that your privacy is also dependent on whether or not your relatives give their DNA. Indeed, to deploy DNA surveillance across a group of people, it is estimated that only 2-5 % of a population’s profiles are needed, because biological relationships to the wider unprofiled population can be mapped from a small proportion of profiles.
Unforeseen circumstances such as the bankruptcy of a company that has collected DNA, can add uncertainty as to where samples may end up.
Will having a genetic test affect my insurance?
The rise of consumer genetic (in addition to health and research) testing raises concerns regarding how it may affect your ability to get insurance cover, such as health, life, critical illness or income protection insurance. Including genetic tests in insurance policies opens the door to companies refusing coverage, or asking for certain criteria to be met in order to maintain coverage, such as requiring people to take certain medications, surgery or adopt lifestyle changes. It also may put people off getting a test for a genetic condition due to fear of being refused insurance coverage, possibly increasing risks of illness.
Countries have differing levels of regulations to protect against genetic discrimination for insurance purposes. In the UK, there is currently a voluntary agreement between insurance companies and the government. This is called the ‘Code on Genetic Testing and Insurance’, agreed between the government and the Association of British Insurers. All members of the association automatically sign up to the code. Insurance providers should not ask anyone to provide test results, or to declare test results. There is one exception for clinical (not consumer test) diagnoses with regard to Huntington’s, a rare brain disease that is caused by a single mutation. Such results have to be declared to cover life insurance cover of over £500,000. You are however, allowed to submit negative tests results that may help with an application. Such a clause opens up the opportunity for preferential treatment for those deemed to have “good genetic profiles”. Companies however, have not given up the principle that such policies could be introduced in the future, preferring self-regulation over legislation.
The current voluntary agreement may become increasingly inadequate in protecting against genetic discrimination in the future, with the rise in consumer testing, on top of a currently renewed focus on genomics research in the country. On the other hand, the fact that this is an open-ended agreement may offer opportunities to amend it as genetic technologies continue to evolve.
A recommendation was adopted in 2016 by the Council of Europe that calls upon member countries to ensure that no genetic discrimination takes place, and prohibits genetic testing from being required for insurance cover. It also prohibits the use of existing genetic data from family members being processed for insurance purposes. In the EU, laws relating to general data protection, also restrict the use of genetic data without the explicit consent of the person involved.
Mexico has some of the stronger legislation to protect against genetic discrimination in general, taking a more human rights approach based on genetic characteristics in both their federal and healthcare laws. Across other Latin American countries, there are few laws to directly protect against genetic discrimination, except for in Argentina and Chile.
Australia prohibits genetic discrimination in its Disability Discrimination Act, but exempts insurance companies from this. Provided reliable risk calculations are used, insurance companies are allowed to use genetic test results even if you do not have symptoms of a disease, in order to deny coverage for products such as life, house, disability and travel insurance, but not private health insurance. However, insurers must also consider risk-reducing measures such as surgery or health surveillance. Reports however show that even with the legal use of genetic discrimination by insurers, breaches are still common with regard to people still having difficulties in getting insurance despite having undergone risk reduction measures such as surgery. Some public health and genetic researchers have called for a ban on this form of legal and illegal genetic discrimination in the country.
In the US, where healthcare is privatised and insurance usually covered by the employer, a law was passed in 2008 (Genetic Information Nondiscrimination Act (‘GINA’)) to prevent health insurers from using genetic data to discriminate against you when it comes to health insurance. However, these protections do not apply to places of work with less than 15 employers. Further exemptions apply for instance, once you become symptomatic for a disease. Insurers are thus not allowed to refuse cover to someone who has tested positive for an at risk gene, but this legal protection is then lost of cancer does develop. Such laws favour the insurers who are hesitant to accept applicants with pre-existing health conditions. The law also does not apply to life, disability or long-term care insurance, leaving significant gaps in protection. In such cases, life insurers for example, can request genetic information and retract a person’s contract if they hide test results. Someone who has tested positive for a gene that pre-disposes them to Alzheimer’s disease for example, will be uninsurable. However, some individual states have also added laws, and even where those do not apply, life insurers do not currently explicitly ask for such information. A complementary regulation designed to protect healthcare data privacy (Health Insurance Portability and Accountability Act of 1996) HIPAA, does not cover direct-to-consumer testing and health apps, being restricted to healthcare providers and related entities.
Will having a genetic test lose me a job?
The use of genetic tests have brought concerns that people may be denied hiring or promotion opportunities, or lose their job as a result of an unfavourable genetic test result. Further, if you wish to file a work-related injury claim, it is possible that employers may want to request genetic testing to minimise compensation claims, by attempting to associate the injury with a genetic predisposition of the person involved.
In the US, a 2008 law was passed to protect against genetic discrimination, called the Genetic Information Nondiscrimination Act (GINA), designed to prevent discrimination for employment or insurance. Before this law was enacted, there were cases where employers used genetic test results to inform hiring, firing, reassigning as well as determining compensation for injuries.
This law however, still does not block all forms of genetic discrimination. It does not apply to employers with less than 15 employees, though some individual state laws extend the protections to small employers. Some employers are also engaging with direct-to-consumer testing companies to offer ‘personalised wellness’ programs sold as a means to improve healthy behaviour, and reduce the employers costs in health expenses. In such cases, they may request the information that is gained from the program. Though if the employee does not give consent for genetic testing as part of any such program, then they employer cannot then request access to such information.
Over two-thirds of states also have laws to prevent genetic discrimination in employment, although the scope and approach varies. For example, in Idaho, it is illegal for employers to discriminate when seeking, obtaining or holding on to jobs. However, in New York and Nevada, protections only apply to interns and apprenticeships, respectively. Some cases have occurred where employers have demanded genetic information, but on the whole, this has not occurred too often, largely due to employers not knowing when and why they would need to ask for such tests to be conducted in the absence of symptoms being present in an employee.
Will a genetic test affect my ability to get housing?
Discrimination in housing has a long history, especially for racialised groups and those with disabilities, for example. Genetic discrimination is a risk when property developers or lenders are motivated to select those perceived to have lower risk of disease and thus more able to pay back a mortgage as a result of low medical or care expenses, especially in countries like the US with private healthcare.
However, genetic discrimination laws in the US do not cover housing, lending, land use. California is the only state to prohibit genetic discrimination in the context of housing, such as refusing to rent or sell an apartment to someone who is predisposed to a genetic form of Alzheimer’s disease. Massachusetts also has wider anti genetic discrimination laws that cover housing. Examples of genetic discrimination appear rare, though with examples of illegal discrimination by mortgage lenders who have used health information to assess peoples’ financial stability.
In the UK, many mortgages are tied directly to life insurance. Currently, there is a voluntary agreement between insurers and the government not to require DNA testing (see Will having a genetic test affect my insurance?).
Find resources in this category here.