In 2013 Angelina Jolie announced that she had undergone genetic testing for the BRCA1 gene, a gene known to dramatically increase the risk of developing breast or ovarian cancers. As a result of this testing, she chose to have a double mastectomy in order to prevent the development of breast cancer. She publicised this decision and many women seemed to respond to her call; there was a 64% increase in the rates of genetic testing for breast cancer in the two weeks following her announcement.
Much of genetic testing in situations such as Jolie’s is direct-to-consumer testing (DTC testing) meaning that no medical recommendation is required in order to be tested — one can simply order the testing themselves through a DTC testing company of their choice. These tests can be helpful in determining one’s risk factors for certain diseases and thus helping to inform lifestyle choices. However, these tests are not 100% accurate and can provide misleading information without proper education surrounding their usage. For example, someone might feel falsely comforted after receiving a 23andMe test claiming that they do not have the BRCA1 gene — in reality, 23andMe only tests for three variants of the BRCA1 and BRCA2 gene, while there are over a thousand variants of these genes that are known to affect the risk for breast and ovarian cancers.
Many countries have passed legislation regarding DTC testing and other forms of genetic testing. In both France and Germany, DTC testing is essentially banned and in France is punishable by a €3,750 fine. In Hungary, genetic testing must be carried out by a qualified medical provider and used for healthcare or research purposes. Current European legislation on genetic testing includes the Genetic Diagnosis Act in Germany, the Decree on In Vitro Diagnostic Devices in the Netherlands, and the Italian General Authorisation for the Processing of Genetic Data in Italy.
Genetic testing in the United States (US) is vastly different to that of European countries with commercial DTC testing being extremely common, albeit with some regulations. DTC testing in the US is regulated by the Clinical Laboratory Improvements Act (CLIA), which details the quality standards that laboratories performing genetic and other testing must adhere to. DTC testing in the US is also regulated by the Genetic Information Nondiscrimination Act; the Food, Drug, and Cosmetics Act; and the Medical Devices Amendment.
In the United Kingdom (UK), there is no specific legal or regulatory structure governing DTC testing or DTC testing companies and in recent years concerns have been raised over this. Despite this lack of DTC testing legislation, there remain a number of laws, authorities, and advisory bodies that are concerned with genetic testing, such as the Medicines and Healthcare Products Regulatory Agency. However, the lack of regulation targeting DTC testing in the UK has the potential to harm consumers of DTC testing.
In June 2021 the Science and Technology Committee of Parliament published the Direct-to-Consumer Genomic Testing Report, which urged policymakers to address the risks associated with DTC testing. It recommended several proposals for increasing the safety of DTC testing and to better protect consumers of DTC testing: that DTC tests be subject to greater pre-market assessment by an external body; that the government work with the NHS and Genomics England to more clearly define the technical standards surrounding DTC testing; and that the government consider amending and clarifying any current regulation of DTC testing to better the information and support provided to consumers.
Trends in the legal system are shifting towards greater legislation on DTC testing, both in the UK and beyond, as it becomes clear that developing these policies is necessary to protect the health and wellbeing of citizens. These consumers deserve to be well informed about the information they receive when undergoing DTC testing and to make lifestyle choices based upon accurate information.
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