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
Follow-up to Report
• Discussion with DG Sanco on revision of Diagnostics Directive
• Lay summary prepared for use, with Report, by Academies at
national level
• Communication to the scientific community – Lancet editorial,
European J Human Genetics article
• European Parliament discussion event at end 2012
• Discussion with other IAP regional academy networks on
global implications