Sequencing the entire nation of the Faroe Islands - from sequencing to societal implementation, FarGen, Bogi Eliasen Copenhagenomics 2012
FarGenDemocratizing and Implementing the PersonalGenome Sequence in an entire population.
Proposal• To implement routine whole genome sequencing in healthcare for a whole society of 50,000 people• To provide a cornerstone for optimal individualised health care with emphasis on prevention as well as treatment, cost effectiveness and democratic implementation• To provide a foundation and resource for national and international research• To develop a genomic healthcare model that has national and global compatibility• To perform a pilot study that explores the critical scientific, technical, ethical, legal and social aspects• To create an infrastructure for long-term management, maintenance and evolution of the system
Motivation• Better Health Care• Participating in solving global challenges• Optimizing isolation, trust, smallness and transparency• Utilizing data richness• Faroese genetic disorders: CTD and others• Develope research competences and knowledge in the Faroes• Biotechnology cluster and job creation• Being first
Initiation• 1998: Initiative with Decode developed but stopped• 1998-2006: Internal discussions and development of ethical framework• 2005: Biobank Act passed in parliament• 2006: Ílegusavnið/Genetic Biobank started• 2007: First research project started• 2008: Feasibility study of larger genomic projects in the Faroes• 2009-2012 Development of the FarGen concept and initiation of the project• Is a part of the Department of Research & Development, Ministry of Health
The Biobank Act§ 1. The purpose of this Act is:1. to protect the rights of individuals in connection with Human GeneticsResearch.2. to establish the parameters for and to encourage research in the FaroeIslands into human genetics so that such research may in the end: a. advance competencies in the cure and prevention of disease; b. advance competencies within the Faroese National Health Care System; c. develop the research environment in the Faroe Islands.• Diagnostics, therapy and treatment
Ílegusavnið/Genetic Biobank (GB)• A coordinating Biobank and research unit in the Faroese Health Sector• Mandated to develop and process applications for all research projects toensure they meet requirements of the Biobank Act• Has custody of• The Genealogy Registry• Diagnosis Registries (various clinical sources)• Collection of all clinical samples• The GB is open for proposals for cooperation from any competent entity.
Healthcare databases with individual data IHIS Pat-reg Pharmacy Uniq_ID Uniq_ID In- and aoupatient In- patient data data 2009 - Uniq_ID 1994-2009- Diagnoses(ICD10) Prescriptions 1994- Diagnoses(ICD10) Surgical ATC-kodes Surgical procedures(NCSP) procedures(NCSP) CPR Uniq_ID Date of Birth Date of Death CPR-number Gender Address Name Mortality- Cancer- Lab. tests reg. reg. Uniq_ID Uniq_ID Uniq_ID In- and aoupatient data 1984- From 1984 (1961) data 2004 – ICD10 ICD03 Analysis Results
Proposed Workflow 3. Store in Biobank for - comparing to genealogy, diagnosis and tissue 1.Blood sample or blood from 2. Whole genome sequence registries biobank - attach to the individual‘s personal health record via the Digital Health System (THS) 4. An individual has a medical 5. The clinician responsible for the consultation. There is suspicion of Genetic Biobank at the medical 6. The laboratory runs the test a genetically identifiable center in the Main Hospital condition. The GP/MD requests a decides on the request. test on the specific suspicion. 7. The GP/MD is informed of test 8. The patient receives the result. 9.Continued counseling from the result, a decision on the level of And where necessary, follow up genetic counseling team and/or the genetic counseling needed from GP/MD, genetic counselor relevant institution if needed as and possible medical treatment of and/or relevant institution well as possible treatment. the patient (Nærverk, Gigni)
Implementation• Public Health System • Genetic Biobank • Hospital • THS infrastructure (Digital Health Record system, EPR) • Other entities • ELSI• Political system• Administrative system The Faroese Prime Minister strongly supports the• Relevant agencies and institutions initiative. • Education – curricula and school material• Buy-in from health care• Buy-in from the people
FarGen Pilot Study• Test sample of 100 individuals• Implement prototype workflow• Monitor scientific, technical, ethical and societal impact• Education and public awareness• Options to focus: • Ongoing genetic studies including rare Mendelian conditions, cancers, specific Faroese diseases • Healthy population: individual, family, familial disease association, imputation of genetic information• Impute 1000-5000 sequenced individuals to make a public health tool as agoal.• 1-2 year time frame for initial reporting
Ethical Issues• Need for a democratic process• Equality of genomics opportunity and uptake for all people• Individual right to opt in or out – register of “non participants”• The personal right to have your own genome interpreted privately• Personal sequence should follow principle of “human right for best possible health care” (Treaty of Human Rights)• How to make a model with both local and global compatibility (maximise value)• Responsible process empowering the individual – in a health and societal context i.e. in cooperation with school system• Informed consent• Return of result - Feed back of actionable/non actionable information?• The right to have your genome sequenced and combined with your health records – making it usable• Education of the people (population and professionals) and relevant institutions
Some aspects to consider in pilot study• Should the pilot include minors?• How will the individual right to data release be handled in the context of family, population, pilot study?• How will data be linked/integrated with THS(EPR)?• Making the data usable• Where will we store the data?• Should individuals be told about actionable variations found in research made in the FarGen database?
Ongoing Genetic Research Projects• Four Eye diseases (Retinitis special focus on arrhythmias. pigmentosa, Nanoftalmus, Albinismus oculi and • Parkinson Bardet-Biedl syndrome) • Screening of 9th grade (14-15 year) for type 2• Panic Anxiety (November 2007) diabetes risk• Schizophrenia – (August 2008) ALSO: a range of epidemiological studies• Psoriasis – is planned to start in Q2 2011 including: Crohn’s, ulcerative• Autism (April 2008) colitis, indeterminate colitis, multiple• Multiple Sclerosis (August 2008) sclerosis, thyroid disease, malignant• Lethal Familial Syndrome (October 2008) haematological disorders, ovarian cancer • GSD III• Anosmia (March 2009) • Psoreasis• Idiopathic Generalised Epilepsy• Carnitine transporter deficiency (CTD): health status of heterozygous cases (population frequency 1/400) in the Faroe Islands with
So......• Practice today• Ethical considerations• Political and public engagement• Cooperation
Acknowledgement• Pál Weihe • David Bentley• Sigurð Vang • James Lupski• Tummas í Garði • Paul Flicek• Guðrið Andorsdóttir • Gilean McVean• Ulrike Steuerwald • Richard Gibbs• Bjarni á Steig • John Belmont• Hans Atli Dahl • Morris Foster• Hannes Gislason • Stephen Turner• Poul Gert Hansen • Lisa Brooks• Oyvindur av Skarði • James Watson• Ólavur Gregersen• Jan Rasmussen• Maria Skaalum Petersen• Jónrit Halling• Ann Østerø• Jonhard Eysturskarð• Fróði Joensen
William Heinesen”Far away in the mercury shimmering ocean there isa lonely lead-coloured land. This tiny little rockyland relates to the wide ocean as a grain of sand toa ballroom floor, but viewed through a magnifyingglass this grain of sand is yet a complete world withmountains, valleys, sounds and fjords, and houseswith little people.”