Transcript Leopoldina – Corporate Design Relaunch

Direct-to-Consumer Genetic Testing:
Based on the EASAC-FEAM Working Group
Martina Cornel
VU University Medical Center, Amsterdam, The Netherlands
With thanks to prof. Béla Melegh, Pécs, Hungary
Direct-to-Consumer Genetic Testing (DTC GT):
Background
• Advances in genomics are discovering new genes that cause
disease or increase its risk
• Genetic testing traditionally confined to specialist medical
services focusing on relatively rare inherited diseases
• Common, complex disorders are usually the result of variation
in many genes acting together with other factors
• Increasing availability of genetic tests for complex diseases
available via internet – of debatable value
2000: draft of human genome sequence published
• Without a doubt, this is the most important, most wondrous map ever
produced by humankind.
• With this profound new knowledge, humankind is on the verge of gaining
immense, new power to heal. Genome science will have a real impact on
all our lives -- and even more, on the lives of our children.
It will revolutionize
the diagnosis, prevention
and treatment of most,
if not all, human diseases.
10 years after ….
• Results in health care modest
• Genetic variants (SNPs) explain only minority of interindividual
risk differences
• The human molecular system is more complex than
anticipated.
High vs. lower predictive value
•
Janssens 2006
EASAC-FEAM Working Group
• Started in 2011, funded by InterAcademy Panel, the first joint
project between EASAC and FEAM
• Working Group members nominated by Academies, with
expertise in clinical genetics, public health and ethics
• Objectives – to clarify scientific developments, assess
regulatory options, provide information to policy makers and
public
• Report published July 2012
DTC GT is controversial: advantages and
disadvantages from the literature
• Increased personal choice – but lack of preparation for
results or objective information on quality; absence of
individualised medical supervision and counselling
• Rapid diagnosis – but financial and social costs
• More information, may allow earlier intervention – but little
use at present, may induce anxiety or false reassurance
• Claimed privacy of information – but unclear procedures for
data storage and use
EASAC-FEAM: Main messages
• 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
the present time
Especial caution is warranted for DTC GT in
specific respects
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For those with symptoms or at known increased risk
Monogenic, high penetrance, serious disorders
Prenatal screening, carrier testing in children
Nutrigenomic testing
Pharmacogenetic testing
”Racial purity” genetic test abuse
Parliamentary questions
3 July 2012 E-006668/2012
• Question for written answer
to the Commission
Rule 117
• Alda Sousa, Portuguese member of the European Parliament
Subject: Genetic ancestry testing for racist
propaganda purposes
1. Will it draw up legislation and rules on genetic tests so as to
prevent the company concerned in this case and other public
or private companies from continuing to advertise and carry
out ancestry and ‘racial purity’ tests?
Subject: Genetic ancestry testing for racist
propaganda purposes
(2) Subject: Genetic tests — regulation, accreditation, and advertising
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1. What measures will the Commission take to regulate the quality assurance and
accreditation of the laboratories which carry out human genetic tests of the type
concerned here and other types, especially in cases where tests are sold freely to
consumers on a cross-border basis (on the Internet, for instance)?
2. What measures will it take as regards misleading advertising and improper
uses of scientifically worthless genetic tests, health-related or otherwise?
3. What measures will it take to regulate advertising and the free and direct sale
of the above mentioned and other genetic tests, especially health-related and
‘personal identity’ tests (paternity/maternity and ancestry), which frequently
involve children or third parties who have not given their consent?
Answer given by Mrs Reding on behalf of the
Commission (10 September 2012)
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The European Commission has repeatedly rejected and condemned all
manifestations of xenophobia and racism and uses all the instruments at its
disposal, in line with the Treaties, to fight against these phenomena as they are
incompatible with the values and principles the EU is founded on. Article 21 of the
Charter of Fundamental Rights prohibits discrimination on the basis of ethnic
origin as well as genetic features and in line with its Article 8 everyone has the
right to the protection of his/her personal data, including genetic data. According
with its Article 51(1) the Charter applies to the Member states only when they are
implementing Union law and does not extend the EU competencies as defined in
the Treaties.
Council Directive 2000/43/EC (1) prohibits discrimination based on race or ethnic
origin in a number of fields, including access to employment and occupation.
Member States are obliged to give full effect to the provisions of the directive and
put in place procedures and remedies for persons who claim to be victims of such
discrimination. Hungary has transposed that directive.
More generally: Developing broad principles
for management of DTC GT
• Addressing concerns for completeness of information supplied before
consent; data handling; access to advice and counselling
• Demonstrating scientifically valid claim between genetic marker and
disease
• Establishing quality control in laboratory analysis and interpretation of
results
• Enforcing advertising standards
• Proper additional consent seeking for research
• Implications for established health services
Issues for EU strategy – What are the emerging
areas for European Commission?
• In Vitro Diagnostic Medical Devices The EU has published a new IVD
Regulation which will replace the current Directive 98/79/EC on In-Vitro
Diagnostic Medical Devices (IVDD) from around 2016.
Revision to cover all genetic and other test information used to make
medical claims; issues for introducing independent review of evidence,
which must be accessible and verifiable
• Other legislation – implications for reform of other Directives on Medical
Devices and scope of Data Protection Regulation
• Support for research and innovation – on gene-disease associations
EU added value?
Responsibilities of member states?
• Independent review of evidence
• Information, accessible to public
• (Not) allowing products to the market?