1. What to screen for and when? 18th January 2014 PACITA Lisbon
VUmc Basispresentatie
What to screen for and when? 18th January 2014 PACITA Lisbon
Prof.dr. Martina Cornel

2. Screening Offer of health care Often systematic offer
To healthy people

3. The goal of screening Avoiding irreparable health damage
Screening for breastcancer, cervical cancer, colon cancer
Newborn screening for PKU, hypothyroidism, etc
Prenatal screening for resus negative women
Family members for familial hypercholesterolaemia
Offering reproductive choice
Prenatal screening for Down syndrome, spina bifida
Preconceptional screening for carrier status of thalassemia, sickle cell disease, cystic fibrosis, Tay Sachs, etc

4. When to screen?
Preconceptional: (18-30 years?) carrier of autosomal recessive conditions
Carriers have no symptoms
Infant may develop serious disorder if mutation from both parents
During pregnancy: prenatal
Rhesus negative?
Down (combined test, NIPT), spina bifida (ultrasound)
After birth: neonatal screening
1-30 diseases in Europe (hypothyroidism, PKU, MCADD, etc)
Later in life (>20)
Cholesterol for cardiovascular risk profile
DNA test for familial hypercholesterolaemia in first degree relatives

5. When to screen?
If a good test is available, for a treatable condition, where early diagnosis helps to prevent some of the symptoms.
If parents & society find this test acceptable to avoid the birth of children with severe handicaps
If technology makes it possible?

6. Responsibilities of public health authorities
Protect children (access in all EU to NBS)
Promote health of citizens (all ages)
Monogenic subtypes of common disorders: offer tests to 1st degree family members (cardiogenetics, oncogenetics)
Reproductive choice
Informed autonomous choice, no coercion in ethically sensitive issues (abortion)
Guarantee optimal quality of information and tests

7. Responsibilities related to research
Discern hypes from reality
Stimulate implementation of clinically useful tests (dedicated translational studies needed)
Protect privacy AND protect the possibilities for innovation and research (data, biobanks, broad consent, exception for health research)
Interpretation of (WGS) sequencing data

8. Right (not) to know? If High predictive value,
More possibilities to intervene and
Live longer & healthier
Then
Citizens have an increasing right to know
Physicians increasingly feel a duty to inform