1. HUMAN GENOMICS AND PUBLIC HEALTH
IN A GLOBAL WORLD:
CHALLENGES FOR LOW & MIDDLE INCOME COUNTRIES
Helen M Robinson
HVP/International Co-ordinating Office
HVP5 May 2014
hmro@unimelb.edu.au

2. Human genetics and genomics in a global world…
1. Monitoring activity at the national level already happening
2. Engaging across political borders – research collaborations and data
generation and sharing
3. Setting a global policy agenda
4. Understanding the global burden of genetic and genomic disease –
estimating it, looking for regional patterns
5. Implications for developing health systems that leverage genomic
information
2

5. Monitoring and mapping activity
at the national and international levels
What we did –
1 Surveyed HVP CNs and other National HG Societies
Aim to develop a ‘snap shot’ of efforts – who is doing what and where, using
2012 as a baseline; this will be repeated in 2014 and every 2 years
Questions covered -
• Nature and type of tests performed
• How data was stored, made accessible
• Who paid for tests – public, private
• Was testing predicted to increase/decrease
• Aspects of quality control, accreditation, curation
• Skills base, expertise
2 Telephone interviews with key informants
3 Follow up through literature and national bodies
4 Grand Challenges for Genomics – WHO project (in press)
5

6. Monitoring activity at the national level
What we found –
– Lots of activity in 50 or so countries, and increasing
– Very fragmented within/between countries
– Little systematic data collection or reporting
– One-off reviews, publications rather than systematic monitoring
– More of a research project “mind set”
– Weak links to Ministries of Health, health service delivery, policy makers
– Absence of any global mechanism to harness, track developments
6

7. Genomics and public health –
what should be on a global agenda?
• Improving provision of healthcare services by using genomic and genetic
information
• Who should pay? Who pays now?
• Who gets access to services? Is it fair?
• Planning future services – is it possible to deliver? Do we have enough
skilled people? Diagnosis, counseling, treatment implications
• Understanding the ‘digital divide’
• Ethical, social and legal issues – catering for, and leveraging diversity
7

8. Shaping a global agenda - why collaborate globally?
• Global solidarity
• Pooling of resources – knowledge, data
• Disparities in disease burden
• Disparities in resources
• Social justice
• Efficiency, cost effectiveness
• Facilitating movement of data and information across national borders
• Need for global quality standards
• Leveraging diversity
8

9. Priorities identified for
international genomics and public health
1. How to build an appropriate evidence-base on genomic medicine to
engage and inform decision making by health policy makers
2. Merits of addressing health disparities between various populations by
using genetic and genomic services of various kinds
3. Dealing with patients from diverse ethnic, religious and cultural
backgrounds
4. Implications for the curricula of various medical and health related
education and training programs
5. What mechanism and coordination activities are needed and supported by
the stakeholders to enable this to happen – particularly across disease
types
9

10. 1 How to build an appropriate evidence-base on genomic medicine
to inform decision making by health policymakers
• Implications of the uncertainties, risks and predictions of outcomes that
genomic medicine often entails
• Ensuring fair access to services
• Assessing the effectiveness of services that use genomic medicine
• Implications of genomic knowledge for conceptualizing health, disease
and illness
• Improving cost-effectiveness
• Planning for future needs for service delivery
10

11. 2 Integrating genetic and genomic services of various kinds into
health service delivery
• Disparities in different parts of the world, in different ethnic groups, in
cultural groups
• Need to find solutions for low-income settings
• Issues of integrating genomics into health systems
• Treating the family group in an individually patient-centred world
• Capacity building and knowledge sharing between countries to address
inequities
11

12. 3 Dealing with patients from diverse ethnic, religious and cultural
backgrounds
• Progressing a flexible global approach to regulatory frameworks – one
size does not fit all
• Protecting vulnerable populations, sub-populations
• Improving understanding of issues in high risk individuals, families and
communities and the cultural, social implications
• Leveraging diversity builds better outcomes, can produce better quality
and cheaper outcomes
12

13. 4 Implications for the curricula of various medical and health related
education and training programs and related issues
• Building competencies of health care providers
• Preparing the next generation of researchers and service providers
• Developing new careers – bio-informaticians, database curators
• Addressing capacity differences in different parts of the world
• Improving understanding of issues in media, general public
13

14. 5. Working with the status quo
• Working with established disease groups
• Working across disease types and phenotypes
• Identifying priority areas by disease, morbidity, mortality
14

15. Building capacity cross borders
• Progress so far
– Rapid growth
– Lots of expertise, energy, enthusiasm
– Some limited resources invested
• What we have learnt
– Need to bring people together – co-ordination, need for
“permission”
– Weak links to MOH, weak understanding of implications among
bureaucrats
– Weak emphasis of health system implications
15

16. Moving from research to service delivery
Refer Green, E (2011) Nature (470)
16
Understanding
the structure of
genomes
Understanding
the biology of
genomes
Understanding
the biology of
disease
Advancing the
science of
medicine
Improving the
effectiveness of
healthcare
•Genetic and
non-genetic
basis of disease
•Human
participants in
genomics
research
•Diagnostics
•Therapeutics
•An evidence
base for
genomic
medicine
•Genomic
information and
reduction of
health disparities
•Delivering
genomic
information of
patients
•Electronic
medical/health
records
•Demonstrating
effectiveness
•Education
healthcare
professionals,
patients, public
•Increasing
access to
genomic
medicine

17. Moving from research to service delivery
Refer Green, E (2011) Nature (470)
17
Understanding
the structure of
genomes
Understanding
the biology of
genomes
Understanding
the biology of
disease
Advancing the
science of
medicine
Improving the
effectiveness of
healthcare
•Genetic and
non-genetic
basis of disease
•Human
participants in
genomics
research
•Diagnostics
•Therapeutics
•An evidence
base for
genomic
medicine
•Genomic
information and
reduction of
health disparities
•Delivering
genomic
information of
patients
•Electronic
medical/health
records
•Demonstrating
effectiveness
•Education
healthcare
professionals,
patients, public
•Increasing
access to
genomic
medicine

18. WHO: key components
of a well functioning health system
Responds in balanced way to population’s needs and expectations by –
 Improving health status of individuals, families and communities
 Defending the population against threat to its health
 Protecting people against consequences of ill-health
 Providing equitable access to people-centred care
 Making it possible for people to participate in decisions affecting their
health and health system
18

19. Ref. WHO: Everybody’s business 2007
19

20. GENERIC HEALTH SYSTEM
• PHC backed up by secondary and
tertiary care services
• Package of benefits with integrated
range of clinical and population health
interventions
• Standards, norms, guidance to ensure
access and quality of care, safety,
effectiveness
• Accountability mechanisms to ensure
access and quality
20
1. SERVICE DELIVERY

21. GENERIC HEALTH SYSTEM GENOMICS AND HEALTH SYSTEMS
• PHC backed up by secondary and
tertiary care services
• Services not yet integrated into PHC –
largely ad hoc delivery, often through
private providers
• Package of benefits with integrated
range of clinical and population health
interventions
• Not seen as a public health service by
most MOH
• Standards, norms, guidance to ensure
access and quality of care, safety,
effectiveness
• Sporadic; some early effort on this
largely outside the formal health
system
• Accountability mechanisms to ensure
access and quality
• Largely at research end; little in public
sector – very sporadic
21
1. SERVICE DELIVERY

22. 2. HEALTH WORKFORCE
GENERIC HEALTH SYSTEM
• Mechanisms for determining sufficient
numbers and mix of staff to serve
population needs
• Reward/payment systems
• Regulatory mechanisms to deployment
and distribution is matched to need
• Enabling environment for staff to
deliver quality services
• Co-ordination mechanisms to integrate
needs of stakeholders: workers,
employers, community, professional
assoc., patients
22

23. 2. HEALTH WORKFORCE
GENERIC HEALTH SYSTEM GENOMICS AND HEALTH SYSTEMS
• Mechanisms for determining sufficient
numbers and mix of staff to serve
population needs
• Virtually unknown; requires new skills,
new training and continuing education;
ACMGG says <10% of physicians feel
comfortable with their knowledge;
services restricted by availability of
skills
• Reward/payment systems • ?
• Regulatory mechanisms to deployment
and distribution is matched to need
• No evidence of this so far
• Enabling environment for staff to
deliver quality services
• If it exists, is very local
• Co-ordination mechanisms to integrate
needs of stakeholders: workers,
employers, community, professional
assoc., patients
• No evidence of this so far
23

24. 3. HEALTH INFORMATION
GENERIC HEALTH SYSTEM
• Access to quality and timely
information on delivery, performance
and progress in meeting health
challenges
• Health financing information, nature
of expenditure on delivery, salaries,
consumables, infrastructure;
• Information on trends in supply and
demand, future needs
• Information on quality of care, access
to care
24

25. 3. HEALTH INFORMATION
GENERIC HEALTH SYSTEM GENOMICS AND HEALTH SYSTEMS
• Access to quality and timely
information on delivery,
performance and progress in
meeting health challenges
• Little known; data not kept centrally
• Health financing information, nature
of expenditure on delivery, salaries,
consumables, infrastructure
• Very little evidence found so far;
need to measure being discussed
• Information on trends in supply and
demand, future needs
• Largely anecdotal
• Information on quality of care,
access to care
• ?
25

26. 4. HEALTH FINANCING
GENERIC HEALTH SYSTEM
• System to raise sufficient funds for
health fairly
• System to pool financial resources
across population group to share
financial risks
• System of governance supported by
laws, audit, reviews to ensure
efficient use of funds
26

27. 4. HEALTH FINANCING
GENERIC HEALTH SYSTEM GENOMICS AND HEALTH SYSTEMS
• System to raise sufficient funds for
health fairly
• Where available, limited to those who
can pay OR paid through research
projects; hard to find information
• System to pool financial resources
across population group to share
financial risks
• Some OECD countries do this;
sustainability is questionable
• System of governance supported by
laws, audit, reviews to ensure
efficient use of funds
• Little research in this area
• Focus more on costs of testing, not
service delivery
27

28. 5. MEDICAL TECHNOLOGIES, PRODUCTS
GENERIC HEALTH SYSTEM
• Regulatory system for authorization,
quality and safety supported by
enforcement mechanisms
• List of essential medical products,
diagnostic and treatment protocols
linked to levels of care
• Supply and distribution system to
ensure equitable access
• Price monitoring system
• Programme to promote rational use
28

29. 5. MEDICAL TECHNOLOGIES, PRODUCTS
GENERIC HEALTH SYSTEM GENOMICS AND HEALTH SYSTEMS
• Regulatory system for authorization,
quality and safety supported by
enforcement mechanisms
• Sporadic; local
• List of essential medical products,
diagnostic and treatment protocols
linked to levels of care
• Need for more systematic analysis
• Supply and distribution system to
ensure equitable access
• Does not seem to be mentioned
• Price monitoring system • Market lead in most parts of the world
• Programme to promote rational use • ?
29

30. 6. GOVERNANCE & LEADERSHIP
GENERIC HEALTH SYSTEM
• Ensuring that health authorities are
responsible for steering the entire
health sector – public and private –
for current and future health issues
• Defining health policies, strategies in
a transparent, inclusive manner
• Translate policies into effective
delivery supported by adequate
resources
• Delivery is equitable
• Implementing effective
regulation/oversight
30

31. 6. GOVERNANCE & LEADERSHIP
GENERIC HEALTH SYSTEMS GENETIC/GENOMIC SERVICES
• Ensuring that health authorities are
responsible for steering the entire
health sector – public and private –
for current and future health issues
• Include genomic and genetic services
in responsible manner
• Appropriate balance between public
and private services
• Defining health policies, strategies in
a transparent, inclusive manner
• Translate policies into effective
delivery supported by adequate
resources
• Delivery is accessible and equitable
• Begin discussion on appropriate
services with key stakeholders
• Supply/demand not known, so
planning is difficult
• Equity of access – big problem
• Implementing effective
regulation/oversight
• Big issue
31

32. Implications
• Adequacy, quality and effectiveness of service provision
• Understanding the barriers and incentives needed
• Acting responsibly
• Setting standards
• Building consistency of outcome globally
• Quality assurance
• Equity
• Need for a place to debate and resolve these issues
32

33. Issues arising from this
• The past ten years has told us – fragmented, competitive world
• Diversity of practice in different parts of the world can offer innovative solutions
• Need to develop strategies that are possible in resource poor environments
• Be more realistic in the promise
• Shift research agenda towards health systems responses
• Need for more collaboration – we are coming out of a project-based era into need
for more programmatic one
• Equity does not get much mention
• Developing countries must be considered
• Sustainability
33

34. Next steps
1. Set up national repositories
2. Creating working groups of Council members to prepare short discussion
papers for Council meetings on key aspects of CN activity, for example:
– How to group and describe varies types of testing being done
– How to present changes in the nature of tests being performed
– Ethical and regulatory approaches in different parts of the world
– Analysis of who pays for tests in various parts of the world – public, private households
– Patterns in testing and data collection over time in various regions
– Analysis of national differences in approaches to quality standards
34

35. THANK YOU
Please contact me hmro@unimelb.edu.au
35