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Advancements in Genomics: UNESCO Documents on Genetics
and Human Rights
Advancements in Genomics: UNESCO Documents on Genetics
and Human Rights
Meral Özgüç
Hacettepe University Center for Biobanking and Genomics&
Turkish National Commission for UNESCO
Valencia 2016
Vision of UNESCO’s Bioethics Program
Vision of UNESCO’s Bioethics Program
To address the most pressing ethical challenges stemming from the unprecedented pace of innovation in medical and life sciences as well as from the rapid convergence in the applications of related technologies
UNESCO 2013
UNESCOUNESCOScience, Technology and Innovation for
SustainabilityUse of knowledge to address social, economic
and environmental challenges(post 2015 agenda)
To ensure lasting peaceTo reduce povertyTo facilitate sustainable development
UNESCO 2013 (Role of STI for global sustainability)
Science and Policy InterphaseScience and Policy Interphase
Society
Scientists
Policy makers
Politician
Ethics as soft law or regulatory / legislative frameworks
Gaps between countries create inequalities for individualsTransparency,
Inclusiveness, Accuracy / reliability of information
AwarenessAwareness
Public Public Debate → Solutions → Public Policy
Media Reliable information dissemination
Academia IRB’s, ethical review
Policy makers Global level to minimize the gap between countries
Advances in Biological Sciences and its Applications
Advances in Biological Sciences and its Applications
Great Potential → For whom?How to distribute → Between and within benefits? countriesSolidarity, equality, → Do advancements justice and equity in technology
encompass these core ethical principles?
Advances in Genomic ScienceAdvances in Genomic Science
Chromosomal abnormalities
Detection of mutations in single gene disorders
Identification of “risk” for chronic diseases
Pharmacogenomics - prediction of effectiveness of drugs
Diagnostic information Predictive information
From Genetics to GenomicsFrom Genetics to Genomics
Genetics - (1960’s) Genomics (2000’s)
1 gene genome wide data sets - ‘Big Data’(data, stored samples, electronic medical records)
DiagnosticsTarget for drug developmentTreatment
Genomic Research - Social and Ethical Issues
Genomic Research - Social and Ethical Issues
Privacy/confidentialityFairness in the use of genetic informationGenetic discriminationCommercializationCounselingEducation (general public and health professionals)
These issues are reflected differently in different societies and countries, harmonization maybe lacking, there are gaps in both education/information and technological capabilities.
variety in regulatory frameworks
Human Genome ProjectHuman Genome Project1985 Initiation1990 NIH, DoE, NSF2002 Finalization
To determine the sequence of entire human DNAIdentify the genes in human genome– Create data bases to store the information– Create tools for data analysis– ELSI (ethical and legal and social issues) 5% of the annual
NIH genome research budget
UNESCO’s Normative Instruments Related to Genomic Research
UNESCO’s Normative Instruments Related to Genomic Research
Universal Declaration on Human Genome and Human Rights (1997)International Declaration on Human Genetic Data (2003)Universal Declaration on Bioethics and Human Rights (2005)– Need to update the debate → New technological challenges
Lack of ethical awareness and national/international regulatory frameworks– Sequencing of human genome → Personalized (precision)
Medicine– Genome editing– Mitochondria replacement– Gamete formation from somatic cells
Human dignity and the human genome
The human genome underlies the fundamental unity ofall members of the human family, as well as the recognition of their inherent dignity and diversity. In a symbolic sense, it is the heritage of humanity.
Universal Declaration on the Human Genome and Human Rights
Universal Declaration on the Human Genome and Human Rights
Human Dignity and Human RightsHuman Dignity and Human RightsInformed consent - autonomyHarm / RiskPrivacyStigmatization /discriminationSharing of benefitsRight to Access to information CommercializationTransnational practices harmonizationProtection of future generations
Science Technology Innovation
Freedom of research Economic progress
Technology gets cheaper and wider access, who benefits?
Individuals/societyInequalityHuman Dignity → how to overcome inequalities globallyHuman rights
Workflow for Genomics Bioethical Challenges
Workflow for Genomics Bioethical Challenges
Sample Collection
Sample Processing
Data Storage
Emerging Therapies
Research purposes
Biobanking
Clinical Trials
Genetic testing
Patient registries
Gene Therapy
Mitochondria replacement
Stem cells
Genome editing
Types of Genetic Testing and Ethical Considerations
Types of Genetic Testing and Ethical Considerations
Diagnostic Tests - Confirmation of diagnosis– Social and psychological risks for the individual and also for the family
Predictive testing - Presymptomatic (life style planning) need counseling
– Asymptomatic children - Risk of testing if no medical intervention is available
Carrier Screening (population screening) - Social stigmatization -individuals and ethnic groups, need counseling for reproductive choices Prenatal/ preimplantation testing - Only for medical purposes, risk for gender selection
Each type of test has different level of risk and need to be evaluated separately for informed consent, privacy, discrimination etc.
Types of Genetic Testing and Ethical Considerations
Types of Genetic Testing and Ethical Considerations
Newborn screening - Only if treatment for the disease is available. Inclusiveness for the whole population, ‘no child should be left behind’Newborn Whole Genome Screening - Secondary findings, information access, consent (how informed is the consent), social/psychological riskResearch Genetic Testing - Not directly linked to a medical decision, informed consent ??DTC testing - carries risk of inaccurate information, maybe no clinical validity, need for correct labeling for counseling (harm rather than benefit??) risk for commercialization
Each type of test has different level of risk and need to be evaluated separately for informed consent, privacy, discrimination etc.
Aartsma-Rus A, et al. J Med Genet 2016
Cost of Genetic Testing is not equal with regards to income
Genetic DiscriminationGenetic DiscriminationEthical principle or Regulation - USA
GINA (Genetic Information Non Discrimination Act -2009)Insurers can not request genetic information and are prohibited to ask for genetic testing from families/individualsUnlawful for employers to make decisions on the basis of genetic information
BiobankingBiobankingIssue of CONSENT:– Narrow consent (specific project)– Broad consent - future studies that will use data
or/and samples– Tiered conset - choices for opt out or recontact
Anonymity of Data (protection of privacy)Proper storage of samples – security and reliability
Stakeholders: Donors of biological materials, clinicians providing patient data/samples, collecting labs, health care industry, general population etc.
Governance for BiobanksGovernance for BiobanksA complex system of governance is required and if not properly installed it creates inequalities between technology rich and poor countries
A special emerging case: A problem is the type of consent used for clinical trials and if the protocols state future banking of samples (for especially biomarker identification) from participants, duration of storage and future use of same samples without consent.
Lack of education and awareness about biobankingLack of regulatory frameworksLack of proper ethical review for collection and access to samplesLack of harmonization for transnational sharing of samplesIPR issues/patenting
Personalized MedicinePersonalized Medicine(precision medicine stratified patients targeted therapies)
PatientsBiomarker screening as indicator of riskStratification into subgroupsSelection of subgroups that will benefit from the treatment
Emerging technologies of whole genome sequencingAnalysis of “Omics-Big Data” Bioinformatics tools– Cost of analysis - affordability of treatment– Privacy issues - need to collect environmental information (behavioral /
lifestyle data)– Access to technology - disparity between countries and vulnerable
groups with countries
Data SharingData SharingSharing Respect for Privacy
Broad use of data for scientific advancementResearch:Ex. Broad Institute open access sequence of Ebola virusClinic:Benefit - EMR sharing for medical decisionsRisk - unauthorized use
Stigmatization / Discriminationethnically identifiable populations-vulnerabilityMisuse of genetic information - insurance, employment
balance
Data sharing: Make outbreak research open access.Yozwiak NL, Schaffner SF, Sabeti PC.Nature. 2015 Feb 26;518(7540):477-9.
Return of ResultsReturn of Results
Clinical Setting Research settingIndividual ?Family members?(Psychological and social burden)
Actionable health significanceIncidental (secondary) findingsRight NOT to knowFalse positive results → potential
harm
Gene EditingGene EditingHuman use - Germ line modification for medical or enhancement purposes
Risk: “Next Generation”
Non human use - Engineered flies – risk of mutation spread to wild population
Risk: “Ecosystems and environmental cost”
Moratorium?? Global ethical consensus?? regulatory framework is different in countries
NATURE - NEWSUK scientists apply for licence to edit genes in human embryosTeam from London's Francis Crick Institute wants permit to use CRISPR/Cas9 technology in basic research.
Inequalities for the Developing WorldInequalities for the Developing World
Lack of technologyLack of education in the health sectorLack of public awareness to have access to the available technologiesEducation gaps - barriers to participation in decision making in health care deliveryGaps in ethical review systems – “Imported” regulations/guidelines Children: Consenting parent’s education level, mother’s role, Community acceptance of the technology transferPriorities of the governments for investing in health careTraditions/ Customs of a community - Attitutes for genetic diseasesGender inbalance for access to health care (priority for boys)
Solidarity between scientistsOpen accessScientists’ role and responsibility in public policy formulations for health careSolidarity between social and basic sciences to help formulate public policyEDUCATION (gender balance)
UNESCO Universal Declaration on Bioethics and Human RightsArticle 21: Transnational PractisesArticle 24: International Cooperation
How to overcome??
Inequalities for the Developing WorldInequalities for the Developing World
Open ended list!!Open ended list!!
UNESCO and BIOETHICSUNESCO and BIOETHICSUNESCO- New Humanism for the 21th Century
Irina Bokova- Director General
“The greatest challenge is to lead the world into a new era of peace and humanism to create more inclusive, just and equitable societies through sustainable economic and social development based on science, innovation and new technologies that will serve mankind and will preserve the environment’’
Protection of Future Generations? Protection of Future Generations?
19.781 minors have arrived in Europe as refugees in 2015
Woman and children makeup most of the migrants(vulnerable groups)
At least 10.000 unaccompanied minors are unaccountedfor!
(UNICEF)
Thank [email protected]
