Transcript Document

A public health perspective on direct to
consumer genetic testing
3rd Slovene
Medical Genetics
Martina Cornel, MD, PhD
Community Genetics, Dept Clinical Genetics
Quality of Care
EMGO Institute for Health and Care Research
2000: 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.
Human genome project 2000
Prevention advice in 2020?
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.
Finding the missing heritability..
Manolio, Nature 2009
Genomics has not revolutionized medicine
• Promises too optimistic
– GWAS, SNPs predict less than expected
• Lack of translational studies
• Complexity of human biological system
Genetics: “bench” or “bedside”?
Science or health care
Left: Watson and Crick
describe the structure of
Above: Breuning explains
the consequences
Translation needed
Libraries cannot be built fast enough to
keep up with modern scientific output.
But moving this knowledge off the shelves
and into practice.. requires translation.
Lenfant NEJM 2005;349:868
Fases in translational research
• The continuum of translation research in human
genetics: types of research
Khoury M et al. Genet Med. 2007;9:665-74.
Framework for translational research
If SNPs don’t predict very good, what does?
• Monogenic conditions
• Monogenic subtypes of complex disorders
• Multifactorial disorders
Contributing factors in causal models
Janssens 2008
ESHG recommendations:
• Utility of test shall be essential criterion
• Laboratories … comply with quality standards
• Information.. purpose & appropriateness
• Counseling, psychosocial evaluation, follow up
• Privacy and confidentiality.. secured
• Claims .. transparent; advertisement unbiased
• Ethics: Respect international treaties
Definition US Commission on Chronic Illness 1951:
The presumptive identification of unrecognized disease or
defect by the application of tests, examinations or other
procedures which can be applied rapidly. Screening tests
sort out apparently well persons who probably have a
disease from those who probably do not. A screening test
is not intended to be diagnostic. Persons with positive or
suspicious findings must be referred to their physicians
for diagnosis and necessary treatment.
Sir Muir Gray (Nat Scr Comm UK)
All screening programmes do harm. Some
do good as well and, of these, some do
more good than harm at reasonable cost.
New technological possibilities
– Attunement between parties
Achterbergh et al. Health Policy 2007; 83: 277-286.
The challenge of balancing pros and cons
• Paradox:
• Few genetic tests with proven clinical utility tend
not (yet) to be implemented in health care
• DTC offers of tests without clinical utility, or, with
clinical utility but without counseling, quality
control, etc
Long QT syndrome
How to recognize monogenic subtype?
• Different pattern
– No hypertension, obesity, smoking, age>60
– NB one-size-fits-all vs. personalized medicine
• Lower age
• Multiple locations cancer
• Multiple members of a family
• NB start asking! DNA test comes in later.
Family history and DNA in public health?
Extend programs aiming to diagnose monogenic
subtypes (cascadescreening FH)?
The role of the government
(Health Council 2008)
• Duty of care: ensure worthwhile screening
– National population screening programme:
provide facility itself
– Available in basic healthcare package
– Reproductive screening: special position:
provide worthwhile options and guarantee both
quality and informed decision making
• Duty of protection against unsound screening
– Guard citizens against health damage from
risky or unsound forms of screening
Protection – Self regulation?
• Quality control
• Accreditation/certification
• Standards
• Recognition of competence
An active approach is needed
(Health Council 2008)
• Responsible screening should be available and
– Strong proactive engagement government
• Protect citizens against risk of unsound screening
– Quality mark: information, education,
exposure, trust
• Positive evaluation->public provision
• No significant benefits, but no major drawbacks
either-> leave to market forces
• Negative evaluation->independent information; public
DTC sustainable?
• Adequate information
• Quality of tests guaranteed
• Medical supervision embedded in regular health
• Privacy and confidentiallity guaranteed
• Clinical utility as central guiding principle