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Genomics and Population Health
Challenges for the Public Health Community
Dr Ron Zimmern MA, FRCP, FFPHM
Director, Public Health Genetics Unit, Cambridge
Royal College of Physicians, London
26 January 2006
Contents of Talk
1.
Intellectual challenges of public health genetics
2.
Practical challenges and public health action
3.
Bellagio and the international dimension
Intellectual Challenges of
Public Health Genetics
The Basic Thesis
Public health practice in the twenty first century can no longer
ignore the knowledge derived from genetic and molecular science.
An understanding of the cellular mechanisms of disease will be as
important to the public health community as an understanding of
the social determinants of health.
Intellectual Challenges
1.
Understanding basic genetics, cell and molecular biology and their
complexity
2.
Understanding that genetic factors are important health determinants
and the implications of gene-gene and gene-environment interaction
3.
Understanding that genetic influences do not entail determinism
4.
Understanding the basic principles of genetic epidemiology and their
implications for population health
5.
Understanding the complementary nature of high risk and population
approaches to disease prevention
6.
Understanding the ethical, legal, social and policy implications of
genetics and molecular science
Determinants of Health
Genetic
Biological
Genetic Endowment
Physical
Natural Environment
POPULATIONS
INDIVIDUALS
Political
Social
Behavioural
Structural Environment
Individual Behaviour
Gene-environment Interaction
Heart
disease
PKU
Schizophrenia
Cancer
Cystic
fibrosis
Duchenne
muscular
dystrophy
‘Totally’
Genetic
Fragile X
Multiple
Diabetes sclerosis
Asthma
Motor
vehicle
accident
Alzheimers
TB
Struck
by
Meningococcus
lightning
Autism
Obesity
Rheumatoid
arthritis
‘Totally’
Environmental
Complexity in Genetic Science
1. Gene-gene interaction
2. Control of transcription
3. Alternative splicing
4. Post translational modification
5. Temporal effects
Practical Challenges and Public Health Action
Practical Challenges
1. Leadership in public health genetics
2. Knowledge integration and evidence synthesis
3. Service development and evaluation
4. Education and training
5. Informing public policy
6. Genomics and global health
Leadership in Public Health Genetics
1. Developing awareness
genetic literacy
2. Building capacity
specialist public health geneticists
10 to 12 in UK with detailed understanding of issues
informing intelligent commissioning
3. Establishing networks
national and international
SOGPAPH and GRAPHInt
Professional Competence
Knowledge Base
Technical Skills
Genetics and Molecular Science
Public Health Sciences
Humanities and Social Sciences
THE
SCIENCE
Health Needs Assessment
Programme Planning
Data Analysis
Review and Evaluation
Management
Financial Planning
PROFESSIONAL
COMPETENCE IN
PUBLIC HEALTH
GENETICS
Interpersonal
Skills
THE ART
Political Sensitivity
Ethnicity
Cultural differences
Personal
Development
Genetic and Population Sciences and the Humanities
GENETIC SCIENCE
POPULATION SCIENCES
HUMANITIES
•
•
Epidemiology
•
Sociology
•
Biostatistics
•
Anthropology
•
Environmental health
sciences
•
Law
•
Economics
•
Infectious diseases
•
Ethics
•
Social and behavioural
sciences
•
Metaphysics and
epistemology
•
Health economics
•
Theology
•
Health services
research
•
Political
philosophy
•
Management science
•
Information science
•
•
•
•
•
•
•
Basic concepts of
mendelian genetics
Family histories and
pedigrees
Risk assessment
and communication
Principles of genetic
epidemiology
Principles of
molecular genetics
Genetic testing and
screening
Genetics of common
disorders
Gene-environment
interaction
Service Development and Evaluation
1.
Evaluation and regulation of genetic tests and biomarkers
2.
Integration of genetic science into mainstream clinical specialties
3.
Organisational issues for laboratory genetics in the context of
pathology modernisation
4.
Ensuring intelligent commissioning of genetic services
5.
Genetics in primary care
6.
Genetic screening programmes
7.
Genetic services and the commercial sector
National Strategy for Genetics Education
•
Strategy for increasing the
knowledge and understanding of
genetics across the health care
professions – genetic literacy
•
Commitment of Wellcome Trust to
background report
•
Strategy commissioned jointly by
Wellcome Trust and DH
•
Establishment of the National
Genetics Education and
Development Centre
Six Policy Issues
1.
The regulatory framework
Ensuring a balanced approach
2.
Educational strategies
Health professionals, general public
3.
The science base
Science infrastructure
4.
Commercial considerations
Entrepreneurship, IPR and public private partnerships
5.
Information and confidentiality
Personal data, human tissue, stem cells,gene therapy
6.
Financial framework for health
Cost pressures, impact on NHS, health economics
UK Policy Context
1.
Our Inheritance, Our Future – Realising the potential of genetics in the NHS (Jun 03)
2.
Strengthening Clinical Research (Oct 03)
3.
Lambert Review of Business University Collaborations (Dec 03)
4.
Bioscience 2015: Improving National Wealth, Improving National Health (Nov 03)
5.
Securing Good Health for the Whole Population: Wanless Report (Feb 04)
6.
Science and Innovation: A Ten Year Investment Framework (Mar 04)
7.
Research for Patient Benefit Working Party (Mar 04)
8.
Public Health Sciences: Challenges and Opportunities (Mar 04)
9.
Choosing Health: Making Healthier Choices Easier (Nov 04)
10.
NHS Improvement Plan: Putting People at the Heart of Public Services (Nov 04)
11.
Better Health Through Partnership. HITF (Nov 04)
12.
Creating a Patient Led NHS (Mar 05)
13.
Best Research for Best Health: A New NHS Research Strategy (Jul 05)
14.
Modernising Pathology: Building a Service Responsive to Patients (Sep 05)
Impact of UK Policy Context
1.
Importance of genetics and molecular science research
2.
Need for a vibrant research base and research capacity
3.
Imperative of strong and well developed links between academia, the
NHS and the commercial sector
4.
Importance of the NHS as a unique resource for clinical trials and all
forms of clinical research including epidemiological studies and health
services research
5.
Growing importance of public health and preventive medicine
6.
Need for appropriate and balanced regulatory regimes
Bellagio and the International Dimension
The Bellagio Initiative
Aims
18 experts from UK, France, Germany,
USA and Canada
Funded by Rockefeller Foundation
•
To explore the possibility of
establishing an international
network to promote the goals of
public health genetics/genomics
•
To share knowledge and
resources
•
To ensure equitable access to the
benefits of genome-based
knowledge by all, including those
in developing countries
Questions and Issues
1.
What are the fundamental concepts of public health
genetics/genomics?
2.
Can ‘personalised medicine’ be reconciled with the populationlevel goals of public health?
3.
What are the key ethical, legal and social issues and how can
they be addressed?
4.
How can different disciplines work together to achieve shared
goals?
5.
What genetics competencies do health professionals need?
The Bellagio Statement
The responsible and effective translation of
genome-based knowledge and technologies for
the benefit of population health
The Enterprise
GRAPH Int
GRAPH Int is an international collaboration that facilitates the responsible and
effective translation of genome-based knowledge and technologies into public
policies, programmes and services for the benefit of population health
Aims
To provide an international forum
for dialogue and collaboration
To promote relevant research
To support the development of an
integrated knowledge base
To promote education and training
To encourage communication an
engagement with the public and
other stakeholders
To inform public policy
Official Launch
Genomics and Public Health
Montreal, Canada
4-7 June 2006
www.humgen.umontreal.ca/events/dnasampling/