Genetics and Health Care Public Health and Policy Considerations

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Genetics and Health CarePublic Health and
Policy Considerations

• Genomics and Public Policy
• Toronto, Saturday 8 June 2002

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Determinants of Health
Genetic
Genetic Endowment
Biological
Physical
Natural Environment
POPULATIONS
INDIVIDUALS
Political
Social
Structural Environment
Behavioural
Individual Behaviour
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Gene-Environment Interrelationship
GENES
ENVIRONMENT
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Penetrance
Gene (Genotype)
Other Genes
Environment
Genetic Risk
Gene-gene interaction Epigenetics
Gene-environment interaction
Disease Risk
Disease (Phenotype)
PENETRANCE IS THE PROBABILITY OF DEVELOPING THE
DISEASE GIVEN THE POSSESSION OF THE GENE
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Gene-environment Interaction
Heart disease
PKU
Schizophrenia
Cancer
Motor vehicle accident
Cystic fibrosis
Multiple sclerosis
Alzheimers
Diabetes
Fragile X
Asthma
TB
Duchenne muscular dystrophy
Struck by lightning
Obesity
Rheumatoid arthritis
Meningococcus
Autism
Totally Genetic
Totally Environmental
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Nuffield Trust Genetics Scenario Project
To assess the impact of advances in genetics and
molecular biology on the organisation, funding
and provision of clinical services, on changes in
clinical practice, and on the potential for
disease prevention and public health action.
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The Eight Stakeholder Groups

• 1. Pharmaceutical industry
• 2. Physicians, public health physicians
• 3. Social scientists and ethicists
• 4. Policy commentators
• 5. Policy makers within government and the NHS
• 6. Medical geneticists
• 7. Physicians with expertise and experience in
  genetics
• 8. Patient representatives (GIG)

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General Drivers

• IT
• Telecommunications
• Changing role of the professional
• Globalisation
• Europe
• Environmental sustainability
• Human rights
• Demographic change

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Specific Drivers

• 1. Science and its capacity to improve human
  health
• 2. Public attitudes towards genetics

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Science and Its Capacity to Improve Human Health
Pace at which genetic science will impact on
health and health services uncertain

• Is the science too complex? Will it be too
  expensive?
• Can it deliver?
• economic constraints
• scientific constraints

Pace - optimists and realists
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Public Attitudes Towards Genetics

• Widespread misunderstanding about genetics
• genetic determinism
• genetic risk

Role of media and of scientists Legacy of
eugenics Public disquiet about genetic
discrimination
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YES
DESIRED SCENARIO
OPTIMUM SITUATION
PUBLIC ACCEPT
NO
-
YES
SCIENCE DELIVERS
NO
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YES
SCENARIO 1 Science does not deliver
Basic science progresses No proven clinical
benefit
Public eager and accept but science cannot deliver
PUBLIC ACCEPTS
NO
YES
NO
SCIENCE DELIVERS
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YES
SCENARIO 1 Science does not deliver
Stage II Public acceptance declines due to
failure of science to provide benefits
PUBLIC ACCEPTS
NO
YES
SCIENCE DELIVERS
NO
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YES
SCENARIO 2 Public do not accept
PUBLIC ACCEPTS
Science delivers but public do not accept
Luddite views Stop advances in knowledge
NO
YES
SCIENCE DELIVERS
NO
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YES
SCENARIO 2 Public do not accept
PUBLIC ACCEPTS
Stage II Continued demonization of science
destroys science base
NO
NO
SCIENCE DELIVERS
YES
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Six Policy Areas

• 1. Educational strategies
• 2. The regulatory framework
• 3. Financial framework for health
• 4. Information and confidentiality
• 5. Commercial considerations
• 6. The science base

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Educational Strategies
Notion of GENETIC LITERACY Politicians have
responsibility to lead public debate
Education is an interactive process requiring
dialogue and discussion Understanding risk is
crucial New biology is a necessary component of
general education All health professionals will
require education and training Medical
geneticists and genetic counsellors will have a
crucial role
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Genetic Sciences

• 1. Basic concepts of mendelian genetics
• 2. Taking family histories
• 3. Risk assessment and communication
• 4. Principles of genetic epidemiology
• 5. Principles of molecular genetics
• 6. Genetic testing and screening
• 7. Genetics of common disorders
• 8. Gene-environment interaction

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Public Health Sciences

• 1. Epidemiology
• 2. Biostatistics
• 3. Environmental health sciences
• 4. Infectious diseases
• 5. Social and behavioural sciences
• 6. Health economics
• 7. Health services research
• 8. Management science
• 9. Information science

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Social and Political Sciences and the Humanities

• 1. Sociology
• 2. Anthropology
• 3. Law
• 4. Economics
• 5. Ethics
• 6. Epistemology
• 7. Theology
• 8. Political philosophy

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Professonal Competence
THE SCIENCE
PROFESSIONAL COMPETENCE IN GENETICS HEALTH
POLICY
THE ART
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Health Service Provision

• 1. Regional genetic services for patients with
  rare genetic disorders
• 2. Impact of genetic testing and screening in
  common disorders
• 3. The impact of pharmacogenetics and new
  therapeutic interventions
• 4. Opportunities for prediction and prevention
• 5. ELSI issues - consent, confidentiality,
  insurance, employment, mental illness,
  international trends
• 6. Managerial implications

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Diagnostic Potential of Genetic Testing

• 1. Use of genetic tests
• Diagnostic testing
• Predictive (pre-symptomatic) testing
• Susceptibility (pre-disposition) testing
• 2. Validation of genetic tests
• 3. Screening programmes
• 4. Pre-implantation genetic diagnosis

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Novel Therapeutic Implications

• 1. Novel drugs
• 2. Individualised drug therapies
• - pharmacogenetics
• 3. Gene therapy
• 4. Stem cell technologies
• 5. Nuclear transfer technologies
• 6. Xenotransplantation
• 7. Novel vaccines

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Managerial Implications

• 1. Commissioning genetic services
• for regional or national implementation
• mechanisms for validation and prioritisation of
  tests and services
• 2. Service organisation
• clinical
• laboratory
• 3. Cost pressures
• 4. Human resource and training issues
• medical geneticists, genetic counsellors, public
  health professionals, GPs and the primary care
  team

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Key Messages (1)

• 1. The new genetics represents the most
  significant scientific revolution in the history
  of medicine to be faced by government and the NHS
• 2. Policy must encourage investment in science
  and be supportive of enterprise in the
  biotechnology and pharmaceutical industries
• 3. We must immediately establish appropriate
  educational, training and manpower strategies
• 4. Regulatory frameworks must be light enough to
  encourage promising scientific developments but
  rigorous enough to protect the public

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Key Messages (2)

• 5. Specific issues in relation to the
  confidentiality of genetic and personal health
  data must be addressed
• 6. Policies must be directed at people with
  inherited disorders as a first priority in
  addition to preparing the service for the impact
  of genetic science across all hospital
  specialties and within primary care