From the June 2012
Direct to consumer genetic testing for health-related purposes in the European Union: The view from EASAC and FEAM study [
PDF] by the Federation of European Academies of Medicine and European Academies Science Council.
[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.
6) Testing of samples from minors and third parties
should not be permitted.
It then proposes 'Principles for the management of DTC GT' -
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.
