Genomic conversations: direct-to-consumer genetic testing
Have you ever wanted to know more about your genetic make-up? In this conversation page, we’ll explore direct-to-consumer genetic testing – including some of the benefits and limitations of these tests and what the future may hold.
Key terms
Genome
The complete set of genetic instructions required to build and maintain an organism.
Genetic testing
A type of test used to identify changes in DNA, chromosomes or protein production, which might be linked to a medical condition.
Direct-to-consumer genetic testing
Genetic tests look for variations in a person’s DNA – for example to confirm or rule out a genetic condition. It’s usually done in the clinic with a doctor or genetic counsellor, to talk through what to expect and help explain the results.
Direct-to-consumer (DTC) genetic tests can be bought online, away from the clinic. With a simple cheek swab or spit sample, buyers can access the information held within their DNA – potentially learning more about their ancestry and being empowered to take a more active role in their healthcare.
Although buyers may choose to discuss their results with a healthcare professional, they don’t have to – which brings a risk of misinterpreting the results. Other considerations are the variable quality of available tests, and questions around privacy and discrimination.
From a simple cheek swab or spit sample, direct-to-consumer tests can provide information about a person’s genetics.
Different people, different opinions
Over the next few sections, you’ll hear from Jeff, Paola and John – three people with links to different departments on the Wellcome Genome Campus. They’ll share their thoughts and feelings about direct-to-consumer genetic testing.
"I’ve already taken part in direct-to-consumer genetic testing. It was very easy and quite fun. You just send off a saliva sample and wait to receive your results."
Jeff, Operations
"With DTC tests, we’re trusting companies with a significant amount of sensitive information from different individuals. At the same time, we’re failing to support these individuals to understand the nuances of the information they get back – which leaves them vulnerable to exploitation."
Paola, Data scientist
"If you went to a GP, they’d consider lots of information before making a diagnosis or deciding on an appropriate treatment regime. In the same way, the results from DTC testing should be considered and interpreted in conjunction with lots of other information about yourself before making any big decisions."
John, Research group leader
DTC tests look for variations in regions of the genome and link this information to specific characteristics – such as appearance, personality or the likelihood of certain skills and abilities. This can be fun and exciting, promoting an interest in genetics and an awareness of genetic conditions and diseases.
Tests can reveal medical-related information, including a person’s risk of:
- Developing certain genetic conditions, such as Alzheimer’s disease or Parkinson’s disease.
- Passing a genetic condition to their children, for example if they are a carrier of a genetic variation that doesn’t necessarily affect their own health.
- Developing conditions like high blood pressure or type II diabetes, in which case a person might choose to make lifestyle decisions to reduce their risk.
Tests can also reveal information about a person’s ancestry, including:
- Where in the world their ancestors lived.
- What proportion of their ancestors lived where.
- Matching them with genetic relatives and calculating to what extent they are related – such as full or half biological siblings.
Anonymised data is added to a large database that can help further medical research, with some companies’ databases representing several million participants’ data.
Different people, different views
“I’ve spent a lot of time working on my family history – but at some point, unless you’re able to trawl archives around the world, you reach a dead end. DTC testing was a really interesting way to get some answers.” – Jeff
“I think DTC tests could help people make decisions to improve their health, provided it’s in partnership with a healthcare professional and the person is able to act on the information.” – Paola
“I think many people are drawn to DTC tests in the hope that they’ll receive clear cut information about their future health.” – John
Are there benefits to direct-to-consumer genetic tests?
The DTC tests that are currently available vary greatly in their accuracy and reliability. This means they might give false positives or false negatives – where people are told they do or don’t have certain genetic variants that might increase their risk of specific conditions.
Did you know?
One study compared three different tests and their predictions about the risks of six diseases. The tests’ predictions of risk varied significantly, including for type II diabetes, prostate cancer and coeliac disease.
Risk is a complex relationship between genetics, lifestyle and environment. In general, most DTC tests provide health reports about how small lifestyle changes could help to make small changes to a person’s risk.
But without an understanding of what risk means, it can be difficult to comprehend what a 1% or 2% risk increase, for example, could mean for someone’s overall health. In some cases, misinterpretation or poorly explained results have led people to make complex medical decisions.
There are also important questions about data privacy. Our genomes hold valuable data for all kinds of research, and DTC testing companies can benefit from selling genetic data to third parties, such as pharmaceutical companies. Who owns this data? What happens to the data if the DTC testing company goes out of business?
And importantly – what happens when this data is shared with third parties? If used inappropriately, this could lead to discrimination, where the misuse of genetic information could adversely affect someone’s access to employment, healthcare, insurance and other rights.
Different people, different views
“It’s important that the people who are looking at the test outputs understand what they mean. Inaccurate or misunderstood results could lead to unnecessary anxiety or ill-informed medical decisions.” – Jeff
“My main worry is privacy. Genetic information is personal and sensitive and could lead to discrimination if used in the wrong way. If someone is found to have a higher risk of a dominant genetic condition with no route to reduce their risk, they might be vulnerable to scams.” – Paola
“It’s very important that information received from DTC tests isn’t considered in isolation. If not considered in conjunction with other information, the results should be considered incomplete.” – John
Are there limitations or risks associated with direct-to-consumer genetic tests?
Did you know?
In the early 2000s, a US company violated a disabilities law by testing its employees’ genetics to see how susceptible they were to work-related injuries, like carpal tunnel syndrome. Many countries now have laws and regulations to help protect people from genetic discrimination – but they vary significantly.
Several countries have laws and guidelines to help protect people from discrimination after genetic testing, especially when it comes to healthcare, employment and insurance.
Here is a selection of examples to show the breadth of regulations around the world, as of 2023:
- Australia: genetic tests are prevented from being used for insurance purposes.
- China: DTC test providers are required to respect consumers’ privacy and cannot use the genetic data without informed consent.
- EU: DTC tests must be reliable, according to the In-Vitro Diagnostics Medical Devices Regulation. EU member states are still allowed their own legislation on other aspects of the tests.
- France: genetic tests can only be performed for ‘medical or scientific research purposes’.
- Poland: no specific regulation on DTC tests.
- South Africa: no specific regulation on DTC tests.
- South Korea: DTC tests are restricted to the wellness area, and access to disease risk related information is only permitted to medical institutions.
- Thailand: DTC tests should follow regulations for other medical devices.
- UK: DTC test providers have to meet guidelines on quality and performance, as per other medical devices. Consumers are advised to think carefully before performing a DTC test and use the results with caution.
- US: laws are in place to protect individuals from discrimination based on their genetic information, in health insurance and employment. DTC testing companies are required to prove their results are accurate and won’t have a negative effect on the health of their customers.
Since laws vary around the world and people can purchase DTC genetic tests from outside their country of residence, regulation can be a difficult task for policy makers.
Different people, different views
“In all aspects of life, our data is becoming much harder to keep track of. It shouldn’t be up to the individual to fend for themselves, rather each country should follow a minimum set of guidelines so that all users of DTC tests are equally protected from issues that could arise with their data.” – Paola
“Walking through DTC tests with a counsellor could be very sensible, giving people an opportunity to really understand the results and make informed decisions. There are currently no regulations around the need for a counsellor – this might be impractical at the legal level, but I’d welcome genetic counselling becoming part of the overall service.” – John
What are the laws and regulations surrounding direct-to-consumer genetic tests?
The global DTC genetic testing market was valued at $12.1 billion in 2022. As self-curiosity, health and ancestry remain popular trends, it’s likely that DTC testing will remain popular. In fact, some forecasts estimate the market will be valued at $22.3 billion by the end of 2030.
Many people who undergo DTC tests have their data added to anonymous genome databases. These databases can be monetised and used without further participant consent in a huge variety of ways – from research into genetic conditions and drug development, to more controversial criminal investigations.
Did you know?
In 2018, DTC genomic test ancestral data was combined with samples from a cold case to arrest a suspected serial murderer, known as the Golden State Killer.
As these databases grow, it’s likely the tests will be able to provide a greater level of confidence around ancestry and richer information about health conditions for previously underrepresented populations. Additionally, advances in the ability to sequence an entire genome with speed and precision may improve some concerns surrounding the accuracy and reliability of these tests.
It’s clear that regulatory approaches have not kept up with the fast pace of the DTC test field – in terms of data privacy and the potential for harm from inaccurate or misinterpreted results. As a result, different countries have widely different approaches, from outright banning DTC tests to having no specific regulations. Consumer groups and regulatory bodies continue to push for a minimum set of guidelines to protect the users of these tests from harm – although there continues to be some scepticism about the value of regulation in this field.
Different people, different views
“I think DTC tests provide valuable insights that enable people to make more informed decisions about their health and wellness.” – Jeff
“DTC tests could have great potential – but only if regulated in a way that addresses any potential of harm to the customer.” – Paola
“Ultimately, the decision to undergo direct-to-consumer genetic testing should be based on an individual’s unique circumstances and goals. It is important to carefully consider the potential benefits and risks of testing before making a decision and to consult with a healthcare professional if necessary.” – John