A joint report by two European advisory groups has recommended that direct-to-consumer genetic tests should be regulated at the European Union level and regulatory policies overseeing this burgeoning industry should be incorporated into the EU's in vitro diagnostic medical devices directive, slated for revisions later this year.
Compiled over the past year in consultation with a working group of field experts, the advisory bodies' recommendation also advise generally against use of DTC tests by EU citizens and state that genomics firms should not market certain types of testing services directly to consumers, including diagnostic or pre-symptomatic testing for mongenic diseases, prenatal testing, or carrier testing in children, and potential pharmacogenomic tests.
According to the report, the first joint effort of the European Academies Science Advisory Council and the Federation of European Academies of Medicine, the groups' recommendations are directed at policy-makers at the EU level, as well as in member states.
Specifically, the drafters of the report aim to inform policy by reforming the EU's IVD directive, called Directive 98/79/EC, which took effect in 2000.
Stuart Hogarth, a bioethicist and medical sociology researcher at King's College London, told PGx Reporter this week that the report is timely, as the European Commission is anticipated to publish its proposals to replace Europe's medical device directives with new regulations this September.
Hogarth said the academies' recommendations for revising the IVD directive to improve EU oversight of DTC genomic testing reflect what he and colleagues have advocated over recent years—a risk-based, proportionate approach and requirements facilitating premarket evaluation for DTC genomic tests, among other forms of genetic testing.
The current EU IVD directive requires only that a test provider demonstrate performance based on analytical validity, not on clinical validity or utility, according to the academies' report.
Most diagnostics tests are classified as low risk, making them exempt from independent pre-market review under the current directive, which has also been interpreted to cover only tests with a medical purpose, excluding some putative predictive tests and lifestyle or nutritional assessments, the groups wrote.
Hogarth said that the ECs proposals for regulations will likely be stricter than the current regime. Furthermore, the recommendations, if adopted, would likely allow less variation among member nations than does the IVD directive, under which member states have freedom to pass laws under their own interpretation..
But he added that while it is clear that reformation of the IVD directive will influence regulation of DTC tests at the EU level, decisions about what types of testing should and should not fall under DTC services will most likely remain under the purview of individual member states.
"If you look at the regulations for pharmaceuticals, which are much more centralized [in Europe] than devices, you see that the issue of what is classified as prescription only and over-the-counter is something dealt with at member state level," Hogarth noted. "So, given that that system is far more centralized, I think it highly unlikely, even under the new regulatory proposal we'll see in September that the issue of DTC — in terms of classifying what should and shouldn’t be available — would be dealt with at EU level."
However, the EASAC/FEAM report does make clear recommendations on what should be excluded from the DTC scope, potentially in a bid to influence these more regional decisions, which, the report cedes, will also be an important part of the overall regulation of DTC testing throughout Europe.
In the report, the EASAC and FEAM conclude that their working group found that for the most part DTC genetic testing has "little clinical use at present." The academies further assert that they "would not wish to encourage EU citizens to use DTC [genetic testing] at present."
However, recognizing that individual member states are likely to adopt varying regulations in this matter, the report provides some insights into why certain types of genetic tests are not appropriate for DTC marketing.
For example, the groups advise that DTC testing services should currently completely exclude providing diagnostic information on monogenic diseases, prenatal testing, carrier testing in children, and nutrigenomic tests. Diagnosing monogenic diseases or other serious disorders requires greater individualized medical supervision and counseling, the group wrote, leading them to conclude that this type of testing should not be offered DTC.
Similarly, prenatal testing, because of significant potential consequences for mother and fetus, also requires genetic counseling and close medical supervision that DTC services cannot provide. Additionally "it would be difficult for DTC services to meet the requirements for pre-and post-test information and counseling that should be part of preconception carrier testing," so this type of testing should also not be offered directly to consumers, and DTC firms should refer potential customers to clinical genetic services, the groups wrote.
Nutrigenomic tests, meanwhile, raise concerns about associated sales of nutrient products or of having "little or no proven value," according to the report, and thus should be excluded from the DTC promotional sphere unless "extensive validation" of a test and any associated nutrients products can be documented.
On the subject of pharamcogenomic testing, the groups made a case for restricting DTC sales of such diagnostics since concerns have been raised over the potential for patients to self-adjust doses of their medications with the aid of PGx information available through DTC channels. However, the groups wrote that further discussion and analysis is needed considering the potential benefit of PGx guidance.
With these sectors removed, the academies' report groups the remaining possible varieties of DTC testing under a broad category of "susceptibility" testing for complex disorders, for which the report offers several points of advice for better regulation.
In the report, the academies advised that the EU IVD-MD directive should cover "all tests for the purpose of collecting health-related information," and all genetic diagnostics should fall under pre-market evaluation and post-market surveillance requirements according to a "risk-based, proportionate approach."
Susceptibility testing, the groups' wrote, should be regulated so that claims made concerning the link between genetic markers and diseases are required to be scientifically valid and backed up by evidence meeting the Standards for the Reporting of Diagnostic Accuracy Studies.
Information on who should and should not use DTC services should be transparent, the groups suggested, and governed by enforcement of advertising standards for evidence-based claims.
Quality assurance should cover not only laboratory analysis, but also interpretation of results and provision of counseling. Furthermore, cost implications need to be assessed, the academies concluded.
Specifically toward revising the IVD-MA Directive, the EASAC/FEAM report authors wrote that it should be codified that DTC testing fall under the purview of the IVD directive or future regulations, along with other genetic testing services. They argued that the EC should consider options to introduce a process of independent review of test claims based on "some form of risk stratification," which would determine whether a test requires independent review or not.
Additionally, the groups recommended the EU launch an initiative to expand or mirror the US national Institutes of Health's Genetic Testing Registry — released in beta form this February (PGx Reporter 2/29/2012) — to provide information on the availability and usefulness of genetic tests, adding that it is "questionable" whether the voluntary nature of data submission in the NIH effort "will be effective."
Hogarth said that in his opinion, the report takes too much of a blanket approach in its recommendations for oversight of DTC genetic testing in how it categorizes tests for complex disease and susceptibility assessments. "There are two problems there," he said. "One is that a common disease could be something relatively minor like asthma or something fatal like lung cancer. There's a very broad spectrum."
The second issue, he said, is that lumping common disease tests under the category of "susceptibility" is inaccurate, when some common complex disease tests may in fact be diagnostics. "We pay little attention to the small but perhaps growing number of companies commercializing tests in a more diagnostic paradigm," he said, for example an autism test offered by French company IntegraGen.
IntegraGen markets its autism test as a risk-assessment tool, not as a diagnostic, but Hogarth suggested that the test results could still inform serious treatment decisions for early childhood autism, as well as be used by parents to make reproductive decisions. When genetic test results are used in this way, "we come back into the sphere of clinical genetics," he said.