LONDON, UK (GlobalData), 11 September 2012 - A recent news story concerning mistakes in diagnosing breast cancer through gene testing comes at an unwelcome time for an industry, which is facing challenges concerning regulation and oversight. Debbie McCarron, of Huntington Beach, California, was incorrectly diagnosed as being free of breast cancer, following a gene test carried out by Myriad Genetics, Inc. The resulting delays to her treatment led to more serious surgery and a greater threat to her health than might otherwise have been the case.
While the exact circumstances of the case are still emerging – whether the patient’s physician misinterpreted the test results, or whether Myriad provided sufficient information in the provided gene test report – this case has potentially far-reaching implications for the industry.
Mistakes can arise through the commissioning of the wrong test or through a failure of the physician to understand the result. In March 2011, evidence was submitted to the FDA’s Medical Devices Advisory Committee expressing concern that such tests, when offered without the benefit of competent interpretation or counseling, may result in harm to the patient, as a result of ill-advised lifestyle changes.
In recent years, there has been a large growth in Direct-to-Consumer Gene Testing (DTC GT) tests commissioned by individuals, often without the intervention or support of a physician, and usually by mail order. In many cases, these types of tests are to support claims of relatedness, or for non-clinical traits such as musical ability or strength, but increasingly these tests are being offered as a means to diagnose the likelihood of diagnosing a future disease, such as cancer or cardiovascular disease.
This trend has caused the DTC GT industry to come increasingly under the scrutiny of the regulatory authorities. Recently, the European Academies Science Advisory Council (EASAC), an influential body representing the collective voice of European science, published a report (Direct-to-consumer genetic testing for health-related purposes in the European Union), as part of an anticipated reform of the European Union ‘Directive 98/79/EC on In Vitro Diagnostic Medical Devices’, which is anticipated to include DTC GT. The EASAC recommended that increased regulation of the DTC GT industry should be undertaken, including pre-market clinical evaluation and post-marketing surveillance, to protect both the safety and the rights of the consumer.
The call for improved EU oversight for the DTC GT industry coincides with efforts by the FDA in the US to enforce existing medical device regulations against providers within the DTC GT industry, such as 23andMe, Inc., which took the first steps towards FDA clearance in July by submitting 510k documentation. 23andMe markets a wide range of tests exclusively through the internet, and is the first DTC GT provider to adopt the standards already embraced by the established molecular diagnostics industry.
Increasing regulation is likely to transform the face of this emerging industry. While this will undoubtedly benefit the consumer, there remains the question of how such increasing regulation will impact the ability of individual citizens to access their own genetic data. After a period that has seen the cost of personal gene sequencing fall, increasing regulation could see these costs rise again, making it more difficult to commission whole genome sequencing.
Direct-to-Consumer Gene Testing Faces Tougher Regulation
Related research: Global Healthcare Policy Analysis 2012 – Regulatory, Pricing, and Reimbursement Assessment
This expert insight was written by Dr. Andrew S. Thompson, GlobalData's Senior Research Analyst covering In Vitro Diagnostics. For more information, or to enquire about an interview, please contact our press team on the details below.
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