Human Genomics and Public Health in a Global World: Challenges for Low & Middle Income Countries

HUMAN GENOMICS AND PUBLIC HEALTH IN A GLOBAL WORLD:

CHALLENGES FOR LOW & MIDDLE INCOME COUNTRIES

Helen M RobinsonHVP/International Co-ordinating Office

HVP5 May [email protected]

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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

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Monitoring and mapping activity at the national and international levels

What we did –1 Surveyed HVP CNs and other National HG SocietiesAim 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 yearsQuestions 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 informants3 Follow up through literature and national bodies4 Grand Challenges for Genomics – WHO project (in press)

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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

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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

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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

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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

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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

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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

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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

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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

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5. Working with the status quo

• Working with established disease groups

• Working across disease types and phenotypes

• Identifying priority areas by disease, morbidity, mortality

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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

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Moving from research to service deliveryRefer Green, E (2011) Nature (470)

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

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Moving from research to service deliveryRefer Green, E (2011) Nature (470)

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

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

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Ref. WHO: Everybody’s business 2007

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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

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1. SERVICE DELIVERY

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

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1. SERVICE DELIVERY

2. HEALTH WORKFORCE


• 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

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2. HEALTH WORKFORCE


• 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

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3. HEALTH INFORMATION


• 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

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3. HEALTH INFORMATION


• 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

• ?

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4. HEALTH FINANCING


• 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

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4. HEALTH FINANCING


• 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

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5. MEDICAL TECHNOLOGIES, PRODUCTS


• 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

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5. MEDICAL TECHNOLOGIES, PRODUCTS


• 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 • ?

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6. GOVERNANCE & LEADERSHIP


• 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

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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

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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

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

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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

THANK YOU

Please contact me [email protected]

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Human Genomics and Public Health in a Global World: Challenges for Low & Middle Income Countries

Science

public health

health disparities

health systems

ministries of health

conceptualizing health

genomic disease

global world

health related education