[P]rivate companies now offer genetic testing ‘predictive’ services through the internet directly to consumers (direct-to-consumer genetic testing, DTC GT).
Companies have claimed various putative advantages for their services in allowing increased personal choice and control. However, there are concerns about the accuracy and usefulness of such tests and their interpretation for providing health-related information, in the absence of individualised medical supervision and genetic counselling. DTC GT may create unrealistic expectations because of overstated claims, may induce confusion and anxiety, may harm privacy, and there may be implications for the established health services if inducing unnecessary follow-up assessment.
These issues were examined in a project … which aimed to review the scientiﬁc evidence already available, to assess the regulatory developments underway and to ascertain the principles that should underpin the options for action by public policy-makers. In developing our recommendations in this report, we have attempted to avoid the over-regulation that impedes innovation while not wishing to relinquish strategy- setting to the private sector. Our conclusions are directed primarily to policy-makers at the EU level but we recognise that Member States may also wish to implement their own initiatives as part of the wider management of the opportunities and challenges for health services and consistent with their established national priorities for regulation.
We note ﬁrst that there is controversy about whether using a nucleic-acid-based test is fundamentally different to using other types of biomarker as the predictor of risk, and whether concerns expressed about genetic testing are primarily related to the use of nucleic acids as the analyte or to the more general use of predictive risk information. In our view, efforts to devise recommendations relating speciﬁcally to genetic testing should be regarded as part of longer-term efforts to address all medical testing.
The scientiﬁc literature on potential beneﬁts and harms of DTC GT is still rather limited and, because it is drawn from consumers who can be regarded as ‘early adopters’, it may not be entirely relevant to the broader population. Our ﬁrst conclusion relates to the imperative to collect more evidence for the impact of testing on health outcomes and to share good practice in understanding, handling and communicating information about risk.
Varying views have been expressed by scientists, professional societies and others about what and how to regulate with regard to DTC GT. Procedural options encompass national legislation, adoption of international guidelines and standards, accreditation of tests, laboratories and companies, and voluntary codes of practice based on greater transparency of information provision. In the EU, the regulatory environment for novel tests is governed by Directive 98/79/EC on In Vitro Diagnostic Medical Devices, which is currently being revised. Several Member States have more stringent legislation on DTC GT services.The report asks "What are the particular concerns about the scope of DTC GT?"
Based on our Working Group discussion, it seems to EASAC–FEAM that all kinds of genetic testing require an appropriate and relevant level of professional advice.
On the whole, DTC GT has little clinical value at present and, on occasion, has potential to be harmful. We would not wish to encourage EU citizens to use DTC GT at present. We suggest especial caution about DTC GT in several speciﬁc respects, as follows.
1) Individuals should not seek DTC GT services if they have symptoms or are at known increased risk.
2) Testing for monogenic, high-penetrance, serious disorders should be presently excluded from the services offered by DTC GT companies.
3) Prenatal screening and carrier testing in children should also be excluded.
4) Nutrigenomic testing should be discouraged because of its association with the sale of nutrient products of little or no proven value.
5) Pharmacogenetic testing for prediction of drug response requires further discussion, but should not be offered unless necessary safeguards are in place.
It then proposes 'Principles for the management of DTC GT' -6) Testing of samples from minors and third parties should not be permitted.
Taking into account the particular exclusions and cautions listed above and acknowledging that the boundaries between categories of test may be imprecise, the broader governance of DTC GT should create the strategic coherence that tackles the concerns expressed about the validity and completeness of information supplied before testing, consent, test data management, and access to advice and counselling.
Key points to note in developing the general principles for governance include the following.
• Susceptibility testing for complex disorders should be regulated on the basis that claims about the link between genetic marker and disease are scientiﬁcally valid.
• Test quality assurance must cover not only laboratory analytical quality but also the professional interpretation of results and the provision of counselling that is appropriate to the disease risk and burden.
• Information supplied by the DTC GT company should be controlled by the enforcement of advertising standards (truth in labelling), and must emphasise who is advised not to use DTC GT services.
• Implications for the established health services and others need to be assessed, for example in terms of the potential waste of scarce resources in unnecessary follow-up to test results.
• Companies should include proper, additional, consent-seeking (specifying the handling of samples and information) when desiring to use data for research.
These principles have consequences: for EU policy-makers, for informed consideration of the regulatory alternatives; for the research community in developing an accessible evidence base; and for health professionals in translating research into practice. There will need to be ﬂexibility to enable future innovation, and among the major implications are the following.
• Directive 98/79/EC. The scope of the Directive on In Vitro Diagnostic Medical Devices should be clariﬁed to ensure that it covers all genetic information that is used to make medical claims. The European Commission will need to explore the options for introducing independent review of the claims made for a test, based on some form of risk stratiﬁcation but independent of the nature of the analyte. The evidence base for all information provided must be accessible and veriﬁable.
• Other EU legislation. The wider implications for the reform of the other Directives on Medical Devices (for example, if a clinical efﬁcacy requirement were to be introduced) and the Data Protection Directive (ascertaining its scope to cover genetic information accessed by a consumer within the EU) need to be addressed.
• Professional and technical competences. Whatever can be achieved by reform of the In Vitro Diagnostic Medical Devices Directive to require demonstration of scientiﬁc validity of claims will need to be accompanied by appropriate mechanisms for ensuring professional and clinical good governance according to standard procedures.
• Industry code of practice. While awaiting public policy development, it would be highly desirable for DTC GT companies to work together to develop and implement industry-wide quality standards, including those relating to the labelling of advertising claims and additional consent-taking for research purposes.
• Public databases of information. There is great potential value for an international registry of information on the availability, validity and usefulness of genetic tests so that physicians and consumers can judge for themselves whether to avail themselves of a particular test or service. The European Commission with its international partners should consider what is needed to collect and validate the evidence on gene- disease associations – establishing the relative roles of research funders, academia and industry – particularly in generating data on lower-penetrance genes.
• Professional education. It is vital for Europe to do better in educating medical and other health professionals about genetics, for example to improve the conﬁdence of primary care physicians to interpret and explain risk and beneﬁt based on genetic information.
• Public engagement. It is also critically important to address common public misconceptions about what genetic tests can offer in terms of medically relevant information so as to inform and empower the consumer to decide for themselves when faced with offers of DTC GT.
• Whole-genome sequencing. Very soon, it will be easier and cheaper to sequence an entire genome than to genotype a series of known mutations. Such sequencing and analysis currently represents a very small proportion of the DTC genomics market but it can be expected to grow rapidly. The challenges of consenting, communicating and acting on data will be accentuated by whole-genome sequencing, which has considerable potential to reveal incidental information that was not anticipated or requested by the consumer. Regulatory authorities and other policy-makers need to prepare for the translation of the technology from the research setting to routine testing.
• Global implications. EU reform of Medical Devices legislation must be well integrated with global harmonisation efforts and this requires further work to develop shared understanding of diagnostic/ predictive test clinical performance. The situation is complicated by differences in the relevance of genetic information for different populations. There are major implications for a global DTC GT industry such that there must be a global priority to build global databases containing the clinical information on DNA variants of speciﬁc genes.
In conclusion, although some of these issues are controversial, there are opportunities to improve the regulatory and innovation framework for genetic testing in the EU, which is a collective responsibility for the European Commission, European Parliament and Council of Ministers. However, legislative reform will take time and can only be successful if there is also action to improve clinical governance and professional and public education, to facilitate translation of the available evidence base into practice and to support research to collect new evidence and to ensure the widespread availability of accurate information. Action in the short term will be particularly valuable if it helps to build international standards and validated repositories of test information, and clariﬁes options for mandating good practice by, and accreditation of, DTC GT companies.