Transcript Leopoldina – Corporate Design Relaunch

Direct-to-Consumer Genetic Testing:
Outputs from the EASAC-FEAM Working Group
Martina Cornel
VU University Medical Center, Amsterdam
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
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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
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?
• Directive 98/79/EC (In Vitro Diagnostic Medical Devices) –
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
Issues for EU strategy – What are emerging
areas for public and private sector scientists?
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Governance of professional and technical competences
Industry code of practice
Public databases of validated evidence for claims
Professional genetics education
Public engagement and awareness
Advent of Whole Genome Sequencing
EU added value?
• Independent review of evidence
– As in EUnetHTA and EMA
• Information, accessible to public
– As in Council of Europe information on genetic testing
– As in Clinical Utility Gene Cards (EUROGENTEST)
– As in Genetic Test Registry USA
• (Not) allowing products to the market?
– As EMA (for medicines) and FDA (for medicines and tests)