Guest blog – The consumer perspective on commercial DNA testing: crucial concerns
Our blogs highlight a range of consumer issues from different perspectives. Unless otherwise stated they do not represent the position of Consumers International.
Have you ever wondered whether you have a hidden talent, an unknown family member, or even a heightened risk of disease? Direct to Consumer genetic tests (DTC tests) are becoming increasingly popular worldwide. Millions of consumers have purchased a wide array of tests searching for the answers to these questions. Unfortunately, there is a lot of uncertainty around DTC testing and whether consumers ought to trust their results or the companies that offer them.
More than 26 million people globally have shared saliva in a tube or taken a swab test and sent it to one of the four biggest DTC testing companies globally. After their DNA is analysed, they may be told that they have a genetic predisposition for sprinting or an increased risk for Alzheimer’s disease.
Depending on the test one takes, reactions to the results can vary widely - from joy and excitement to fear and anxiety. Nevertheless, DTC companies are free to send life-changing results with varying levels of accuracy to consumers who – to a large extent – will have trouble interpreting them precisely. In addition, DTC companies often sell their genetic databases, which are made up of consumers’ genetic data, to third parties – a significant example being GlaxoSmithKline’s $300 million-dollar investment in 23andMe in 2018. In the years before the above deal was agreed, the Silicon Valley-based company had already sold access to its genetic database to thirteen other pharmaceutical companies. DTC companies are profiting from sensitive consumer data, while consumers are left empty-handed. What third parties do with the genetic data, or who they share it with, is unknown. This is a cause for concern.
Consumer welfare at risk
A genetic health test can tell if an individual is genetically predisposed to develop cancer. Seeing as the tests are far from accurate, however, results can be misleading. If an individual takes a test to find out whether they are predisposed to certain cancers, and the results come back as negative, it ought to be good news. What the person may not know, however, is that the test only looks at genetic mutations that are common in certain ethnic groups. In the case of breast cancer, there are plenty of other genetic mutations that can increase a woman’s risk of developing cancer that the test in question does not analyse - the ensuing scenario is one in which the person is left with a false sense of security.
Other women may be told they are at greater risk of developing both breast and ovarian cancer, and may decide to surgically remove high-risk organs and other body parts, to pre-empt potential issues. Although drastic, these measures can save lives. But what if the results were wrong? A British woman planned to undergo breast removal surgery after taking a DTC genetic test. It was only at the last moment that the surgery was called off, after an NHS laboratory re-analysed the DNA, exposing that the first test was in fact a false positive. This is but one example amongst a multitude of cases where tests have been wrong and have led to consumers wanting to undergo – or effectively undergoing – surgery based on inaccurate results from genetic tests.
Misleading interpretations
When undergoing a genetic examination at a qualified health service, the patient is surrounded by medical professionals. If a genetic test shows an increased risk of disease, the patient will be guided by staff specialised in genetics and will receive genetic counselling. They will make sure that the patient understands the result and the severity of the situation, or lack thereof. This situation is completely different from having to log into your 23andMe account and interpreting the results by yourself. Without guidance or expertise, reading words such as heightened risk and cancer can cause distress. A layperson reading results of a negative nature at home will most likely be incapable of interpreting the test results accurately. This can lead to anxiety and irrational actions, and it shows how vulnerable consumers can become when faced with what can be life-changing test results.
A global issue
DTC testing companies have access to an enormous market. According to 23andMe’s homepage, they sell their tests in over 50 countries worldwide. As such, DTC testing is not a national challenge – it is a global one. Aggressive marketing strategies are nudging consumers to purchase tests that are uncertain and often clinically invalid, which allows companies to share and monetise consumer data. As such, DTC testing can be a deceiving cycle in which consumers stand to lose a lot more than just money.
A few European countries, such as Portugal and France, have enacted regulation severely limiting consumer access to health tests purchased from private providers. Genetic health testing is limited to the public health sector, where standardized high-quality testing can be performed. In Norway, DTC testing is yet to be regulated, and while recent legislation has addressed the issue, the conclusion is that regulation is unnecessary. Although legislation in the above-mentioned countries has been implemented, there appears to be a lack of enforcement. The EU General Data Protection Regulation (GDPR) and IVD Medical Devices Directive (which has yet to come into force) should theoretically make it a lot more difficult for the DTC industry to sell certain types of tests on the European market. For now, several of these companies claim to comply with data protection laws, however, it seems they may not adhere to the regulations in practice.
Whether it be through international organisations, or through inter-state cooperation, regulation will be more robust and hold more sway if developed and realised at the international level. Regulation encompassing several countries and requiring cooperation between those countries may be complicated, but would create a barrier to companies trying to infringe upon consumer rights by selling subpar products that put consumers' health and personal data at risk.