1. Genetics in Medicine in 2013: is a genetic passport reality?
VUmc Basispresentatie
Almere, 7 nov 2013, Verzekerings Geneeskunde dagen
Genetics in Medicine in 2013: is a genetic passport reality?
Prof.dr. Martina Cornel

2. Is a genetic passport reality?
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….

3. 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 &
© AP PHOTO/RON EDMONDS

4. Analyse van genetisch materiaal wordt steeds goedkoper

5. Future prevention advice?

6. Common disorders, common variants? Genomics research 2000-2010
Shift in research from rare to common disorders
Shift from studies on individuals / families to populations
Often looking at SNPs (single nucleotide polymorphisms) in genome wide association studies (GWAS)
Many statistically significant associations (OR=1.1, 1.2)

7. Finding the missing heritability..
Manolio, Nature 2009
EMGO Instituut - Care and Prevention 7

8. Genetics: “bench” or “bedside”?
Science and/or health care?
On the left: Watson and Crick describe the structure of DNA
Above: clinical geneticist explains the consequences to patients
EMGO Instituut - Care and Prevention 8

9. 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

10. Genetics in healthcare?
EMGO Instituut - Care and Prevention 10

11. 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 death
Multifactorial disorders (genes and environmental factors play a role): not ready for applications in health care

12. Clinical genetics Medical specialty
(physicians 4 yrs. additional training)

13. Genetics in medicine - Clinical genetics
Cancer in the family, young age, often same type
Diagnosis, prognosis and recurrence risk?
Counselee has (hereditary) disorder
Child does not develop adequately (physical abnormalities/ mental retardation)
Nascimento, AJHG 2006; 79; 549–555

14. Colon cancer FAP, HNPCC Colonoscopie
Aspirin decreases cancer incidence in HNPCC

15. One gene increases risk of….
Cancer
Diabetes
MODY diabetes
Cardiovascular disorders
Familiair hypercholesterolemia
Long QT syndrome
HCM

16. Long QT syndrome
Naast Familiaire hypercholesterolemie verschillende “acute hartdood” ziekten die door een mutatie in één gen worden veroorzaakt, en waar vaak wel iets aan te doen valt: medicatie, ICD die ritme herstelt.
Hoge voorspellende waarde (autosomaal dominant patroon in stambomen rechts boven), dus

17. Guidelines in cardiogenetics

18. Overview Clinical genetics
Huntington and similar automomal dominant conditions
Monogenic subtypes of common complex disorders
Possibilities to predict risk and avoid (some of) the consequences
Consequences for insurance? Reduced mortality

19. Sir Muir Gray (Nat Scr Comm UK)
VUmc Basispresentatie
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.

20. Genetic screening for Tay Sachs in USA

22. Neonatal screening (heelprick)

23. Overview Clinical genetics
Huntington and similar automomal dominant conditions
Monogenic subtypes of common complex disorders
Public health
Screening programmes (e.g. newborn screening)
Consequences for insurance: reduced mortality

24. New! Whole genome sequencing Nijmegen:
in mental retardation of sofar unknown etiology many new diagnoses
Analyse any gene?

25. Analyse van genetisch materiaal wordt steeds goedkoper

26. Privacy, confidentiality, insurance?
Next talk: Nick Kirwan!

27. Is a genetic passport reality?
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
Relevance to insurance limited? Reduce premium?
Common disorders often multifactorial – nothing new….