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Report on Personalised Medicine initiatives in Iceland

This report provides an overview of personalised medicine initiatives in Iceland, including the background on human genetics, political initiatives, case studies, deCODE Genetics initiatives, research council activities, university initiatives, and legislative changes.

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Report on Personalised Medicine initiatives in Iceland

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  1. Report on Personalised Medicine initiatives in Iceland Magnús Karl Magnússon, professor Faculty of Medicine, School of Health Sciences University of Iceland

  2. Personalized/precision medicine Preventive or therapeutic interventions based on genetic (germline or somatic) background of the individual

  3. Overview • Background on human genetics in Iceland • Political initiatives • Case study: • Will discuss a new initiative on BRCA2 carriers • deCODE Genetics initiatives • Research council activities incl. funding schemes • University initiatives • Legislative changes

  4. Background • Icelandic population the most genotyped population in the world • deCODE Genetics: • 150 thousand adults (55-60% of the adult population) been genotyped • High denisty SNP genotyping • 25 thousand with whole genome sequencing • Genealogy available on the whole population allowing genotype imputing • Linked to extensive phenotype database

  5. Iceland and human genetics Genotypes generated Genealogy and phenotypes Linked to

  6. Iceland and human genetics Over half the adult population been genotyped

  7. Iceland and human genetics Over half the adult population been genotyped 25000 whole genome sequenced

  8. Iceland and human genetics With detailed genealogy data and high number of genotyped/genome sequenced individuals it is possible to predict the genotypes of the whole population to a varying degree of accuracy (e.g. BRCA2, sudden caridiac death associated syndromes) Impute whole genome sequence with high accuracy 25000 whole genome sequenced Impute geneotypes with relatively high accuracy

  9. American College of Medical Genetics and Genomics • American College of Medical Genetics and Genomics – March, 2013 • Birtu “consenseus” ráðleggingaráráðstefnu ACMG Annual Clinical Genetics Meeting • Hvaðáaðgeraviðóvæntarniðurstöður (incidental finding) úrerfðamengisraðgreiningum • Niðurstöðurnarumdeildar en erufyrstaskrefíaðskilgreinaviðbrögð • American College of Medical Genetics and Genomics – March, 2013 • ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing • “We recommend that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here (list of 57 genes; 24 phenotypes/diseases). • Examples: BRCA1/2, hereditary colon cancer (Lynch sy.), familial hypercholesterolemia (LDLR), sudden cardiac death syndromes (HCM, LQT-syndrome, Brugada) • Incidental Findings in Clinical Genomics: A Clarification • The era of genomic medicine has begun, and we expect that it will continue to challenge long held models of medical practice. The ACMG recommendations on return of incidental findings resulting from genome sequencing represent an early step in responding to this challenge

  10. Selected cancer risk genes* * From deCODE genetics data

  11. BRCA2 • 1250 women carry the Icelandic BRCA2 mutation (999del5) • Carriers: • Women: -12 yr reduced life expectancy • 12-14-fold risk of breast cancer • 15-fold risk of ovarian cancer • Proven preventive measures (reduce risk cancer risk) • High-intensity screening • Prophylactic mastectomy • Prophylactic ovarectomy

  12. BRCA2 – a case study • Political initiatives • The Ministry of Health is currently forming a committee to address the “BRCA2 case in Iceland” • Does the health care system need to proactively intervene • Notify carriers (how? when?) • Public campaign to urge women to seek information • Proactively recruit women at risk • informed consent or opt-out system • Are there regulatory/legal issues that need to be addressed? • Can the health care system provide adequate care?

  13. Other examples • Hereditary colon cancer - Lynch syndrome • 900-1000 indiviuals, preventive measures available • Familial hypercholesterolemia (LDLR) • preventive measures available • Sudden cardiac death syndromes • Hypertrophic cardiomyopathies • Long QT-syndrome • Brugada-syndrome • Pharmacogenetics

  14. Other issues • deCODE Genetics initiatives • deCODE continues its vast genome sequencing and phenotyping efforts (in collaboration with Univerisity/University Hospital) • They need to be included in all discussions on genetics/personalised medicine in the Nordic context • Research council • No specific initiatives • University initiatives • Increasing collaboration with deCODE • Legislative changes

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