Brussels, 14 Nov 2013, Scientific Support to Public Health
Next generation genomics:
translation into clinically useful
applications in health care
Prof.dr. Martina Cornel
2000: genome sequence published
• Bill Clinton: We are here to celebrate the completion of
the first survey of the entire human genome …
• 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.
Collins FS (Right at photo). Nature 2010 &
Future prevention advice?
Common disorders, common variants?
Genomics research 2000-2010
• Shift in research from rare to common disorders
• Shift from studies on individuals / families to
• Often looking at SNPs (single nucleotide
polymorphisms) in genome wide association studies
• Many statistically significant associations
(OR=1.1, 1.2)
• Hardly any clinical utility
Finding the missing heritability..
Manolio, Nature 2009
Genomics in medicine, 2013:
Clinical genetics
– Huntington and similar automomal dominant conditions
– Monogenic subtypes of common complex disorders
Public health
– Screening programmes (e.g. newborn screening)
Oncology, cardiology, etc
– Tumor profiling/ tailoring chemotherapy
– Recognizing monogenic conditions as cause of sudden
Multifactorial disorders (genes and environmental factors play a
role): not ready for applications in health care
Genetics in medicine - Clinical genetics
• Cancer in the family, young age, often same type
– Diagnosis, prognosis and recurrence risk?
• Counselee has (hereditary) disorder
– Diagnosis, prognosis and recurrence risk?
• Child does not develop adequately
(physical abnormalities/ mental retardation)
– Diagnosis, prognosis and recurrence risk?
Nascimento, AJHG 2006; 79; 549–555
One gene increases risk of….
• Cancer
• Diabetes
– MODY diabetes
• Cardiovascular disorders
– Familiair hypercholesterolemia
– Long QT syndrome
Guidelines in cardiogenetics
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.
Neonatal screening (heelprick)
• Whole genome
• Nijmegen:
in mental retardation
of sofar unknown
etiology many new
• Analyse any gene?
Ethical challenges
• Balance pros and cons (beneficence vs. maleficence)
– So far DTC genetic testing should not be encouraged
(EASAC/FEAM report 2013)
– Interest of child central in extending NBS
(Cornel et al. EJHG 2013)
• Allow healthy citizens/ patients to choose for themselves
– ESHG calls for prudent use of WGS-based testing
(Van El et al. Science 2013)
Some (rare) conditions can be predicted better than a decade ago
At affordable price
But implementation is still ongoing
Knowing these conditions can reduce mortality
• Common disorders often multifactorial – nothing new….
do good, (beneficence)
do not harm, (non maleficence)
allow choice (autonomy)
• European Society of Human Genetics
• European Commission - Tender NBS
• Centre for Society and the Life Sciences, Nijmegen
• Center for Medical Systems Biology, Leiden

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