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What to screen for and when?
18th January 2014
PACITA Lisbon
Prof.dr. Martina Cornel
www.vumc.com/researchcommunitygenetics
Screening
• Offer of health care
– Often systematic offer
• To healthy people
The goal of screening
• Avoiding irreparable health damage
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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
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
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?
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
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
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