What to screen for and when? 18th January 2014 PACITA Lisbon

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Presentation transcript:

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 www.vumc.com/researchcommunitygenetics

Screening Offer of health care Often systematic offer To healthy people

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

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