Warning about online genetic testing: a legal framework is urgently needed
Online testing offers vary widely, with highly disparate quality, and they frequently produce “false-positive” results. The lack of regulatory systems governing these tests, and the lack of informed consent and support can have serious consequences for the individuals using them.
“Hereditary” cancers linked to transmission of an altered gene within a family account for 5 to 10% of cases. Technological progress - in particular high-throughput sequencing - combined with improved knowledge of these predisposing genes, has led to an extraordinary increase in genetic testing capacities in recent years. Today, certain commercial companies are offering affordable genetic testing, offering each individual “the opportunity to increase their capacities to be in charge of their own healthcare managements.”
These companies, though they provide data based on the sequencing of certain genetic variants, of a panel of genes or of the entire genome, deny that these tests are being performed for medical purposes. These contradictions allow these companies to escape the requirements of regulated medical practices that guarantee the quality of these tests, as well as the information and support to the individuals tested.
A team from Institut Curie’s genetics department was consulted by a young man who had used this type of online genetic test, for which the two predisposition factors reported proved to be false-positives (results received by email without any supporting advice). This case illustrates the reality and consequences of current practices and informs on the need to establish a medical and legal framework for these tests. It is therefore vital to prevent these companies with commercial purposes from reporting results of genetic tests carried out within a framework that is in reality a medical one. Or these companies must be subject to the same regulatory framework as that of academic laboratories.
According to Antoine de Pauw, genetic counsellor at Institut Curie, and author of this study with Dr. Mathias Schwartz and Prof. Dominique Stoppa-Lyonnet: “The lack of information prior to testing, the lack of informed consent and the lack of support to explain the test results can have dramatic consequences for the individuals concerned. It is urgent that we establish a regulatory, legal and medical framework for these commercial companies in order to guarantee the quality of the testing, the information, support and follow-up to the individuals using them.”
Direct-to-consumer misleading information on cancer risks calls for an urgent clarification of health genetic testing performed by commercial companies. Antoine de Pauw, Mathias Schwartz, Chrystelle Colas, Lisa Golmard, Dominique Stoppa-Lyonnet. European Journal of Cancer. June 2020;132:100-103. doi: 10.1016/j.ejca.2020.03.007