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Almere, 7 nov 2013, Verzekerings Geneeskunde dagen Genetics in Medicine in 2013: is a genetic passport reality? Prof.dr. Martina Cornel www.vumc.com/researchcommunitygenetics 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…. 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 Future prevention advice? http://qnphc.org/personalized-health-care/ 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) Finding the missing heritability.. Manolio, Nature 2009 Genetics: “bench” or “bedside”? Science and/or health care? On the left: Watson and Crick describe the structure of DNA http://education-portal.com/academy/lesson/james-watsoncontributions-double-helix-quiz.html#lesson http://www.umcutrecht.nl/subsite/erfelijkheid/erfelijkheidsvoor lichting/Wanneer_erfelijkheidsonderzoek.htm Above: clinical geneticist explains the consequences to patients Translation needed www.st-hughs.ox.ac.uk/library 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 Genetics in healthcare? www.infectionlandscapes.org/2012/03/guinea-worm.html 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 Clinical genetics • Medical specialty – (physicians 4 yrs. additional training) http://www.umcutrecht.nl/subsite/erfelijkheid/erfeli jkheidsvoorlichting/Wanneer_erfelijkheidsonderzoek .htm Genetics in medicine - Clinical genetics • Cancer in the family, young age, often same type – Diagnosis, prognosis and recurrence risk? • Counselee has (hereditary) disorder – Diagnosis, prognosis and recurrence risk? • Child does not develop adequately (physical abnormalities/ mental retardation) – Diagnosis, prognosis and recurrence risk? http://www.icr.ac.uk/research/research_divisions/Genetics_and_Epidemiology/index.shtml Nascimento, AJHG 2006; 79; 549–555 Colon cancer • FAP, HNPCC • Colonoscopie • Aspirin decreases cancer incidence in HNPCC One gene increases risk of…. • Cancer • Diabetes – MODY diabetes • Cardiovascular disorders – Familiair hypercholesterolemia – Long QT syndrome – HCM Long QT syndrome Guidelines in cardiogenetics www.youtube.com/watch?v=52RJWyjogY0&feature=related www.youtube.com/watch?v=DU_i0ZzIV5U&feature=related 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 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. 19 Genetic screening for Tay Sachs in USA 20 21 Neonatal screening (heelprick) 22 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 New! • Whole genome sequencing • Nijmegen: in mental retardation of sofar unknown etiology many new diagnoses • Analyse any gene? Privacy, confidentiality, insurance? • Next talk: Nick Kirwan! 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….