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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 – – – – 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
