(OECD) in conjunction with the ESRC Genomics Network (EGN

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Directorate for Science, Technology and Industry, www.oecd.org/sti
QUESTIONNAIRE
FOR THE OECD-EGN PROJECT:
PUBLIC HEALTH IN AN AGE OF GENOMICS
The OECD in conjunction with the ESRC Genomics Network (EGN) is undertaking case studies looking at
the impact of genomics on public health in select countries.
Country coordinators have nominated you to complete this questionnaire to aid them in collecting
information which is relevant to this project. Please return this document to your Country Coordinator
within two weeks of receipt.
For additional information, please contact:
Dr. Rachael Ritchie, Policy Analyst at the OECD Tel: + 33 1 45 24 82 69, Email: [email protected]
or
Dr. Steve Sturdy Deputy Director ESCR Genomics Forum Tel +44 (0)131 651 4741, Email:
[email protected]
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Instructions: Please read the accompanying information sheet before completing this
questionnaire. Please be as specific and complete as possible when responding. Where useful,
please provide or make explicit reference to documents or guidance that support your
responses.
SECTION 1:
1.
BACKGROUND INFORMATION
Please identify the country from which you are responding: England
2.
Please identify the service or unit from which you are responding and your field of work
(check all that apply):
□ Government
□ Private Sector
□ Non-governmental
X (other) UK Genetic
Testing Network, National Health Service
□ Laboratory Services □ Public health policy □ Regulatory affairs □ (other)_________
3.
Please acknowledge that by completing this questionnaire you have read the accompanying
information sheet and are consenting to participate in the ‘Public Health in the Age of Genomics’
project (check box):
X I have read the accompanying information sheet and am consenting to participate in the ‘Public
Health in the Age of Genomics’ project.
SECTION 2: NATIONAL PUBLIC HEALTH
3. What are the main priorities for public health in your country?
The White Paper, Equity and Excellence: Liberating the NHS sets out how the improvement of
healthcare outcomes for all will be the primary purpose of the NHS in England. The NHS
outcomes are structured around five domains, which set out the high-level national outcomes that
the NHS should be aiming to improve. They focus on:
Domain 1
Domain 2
Domain 3
Domain 4
Domain 5
Preventing people from dying prematurely;
Enhancing quality of life for people with long-term conditions;
Helping people to recover from episodes of ill health or following
injury;
Ensuring that people have a positive experience of care; and
Treating and caring for people in a safe environment; and
protecting them from avoidable harm.
In addition the Government has outlined the specific public health priorities in Healthy Lives,
Healthy People: Update and way forward. These include the two high-level priorities across the
public health system and beyond. These are:
1. Increased healthy life expectancy.
2. Reduced differences in life expectancy and healthy life expectancy between communities.
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4. How could genomics contribute to meeting those priorities?
Genomics is important to all these priorities;
(a) as a determinant of health and
(b) by virtue of its implications for the organisation and distribution of wider public health
services, including population based prevention programmes and health service provision
5. What policy initiatives and actions have been taken in your country to implement genomics for
public health?
The Human Genomics Strategy Group is an independent cross-government advisory group that
published its report Building on our inheritance, Genomic technology in healthcare, in January
2012. It highlights the UK’s achievements in genetics research to date and proposes a strategic
vision to realise the future benefit of genomics, particularly in the NHS. It also provides specific
recommendations on the steps that need to be taken to realise this vision. The recommendations of
this report are being considered for implementation.
The UKGTN was established in 2002 by the Department of Health. It is a clinical network of NHS
laboratory scientists and clinical geneticists that collaborate with genetics commissioners and
patient representatives. The UKGTN aims to promote the provision of high quality equitable
genetic testing services for NHS patients across the UK. There are 52 member laboratories from
all the regional genetics laboratories and a number of other specialist laboratories.
The UKGTN performs a range of activities
 Strategic: to inform future service and purchasing policy within the NHS in the UK
 Healthcare Purchasing: to advise on medical genetics service developments and undertake
specific projects to promote equity of access to clinical genetic services
 Laboratories: to provide assurance on the quality of testing services and promote services
that are fit for purpose, comparable and efficient
 Evaluation of new genetic tests: evaluate new tests for scientific validity and clinical utility
and make recommendations to NHS healthcare purchasers
In the period 2004-2010, the UKGTN has evaluated 269 new genetic tests, recommended 203 of
these for NHS service provision and developed 216 genetic Testing Criteria to ensure the
appropriate use of these tests.
In addition, the UKGTN has had a major role in supporting the implementation of new laboratory
technologies in the NHS through its evaluation of new tests using microarray and free foetal DNA
technologies. The UKGTN has also been involved in advising on options for implementing
genomics in the wider healthcare setting for example UKGTN report ‘Review of commissioning
arrangements for genetic services and strategic recommendations’
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Other examples of UK initiatives and actions
 Screening programmes for single gene disorders (eg sickle cell and thalassaemia)
 Implementation of free foetal DNA testing for fetal sex determination for X linked genetic
disorders and congenital adrenal hyperplasia
 Development of NICE evidence based healthcare guidelines for example the testing and care
of those with familial hypercholesterolaemia and breast cancer and their families.
 Development of NICE evidence based drug guidelines including companion diagnostics.
 Implementation of microarray testing for learning disability as a first line test.
6. What have been the major successes of these initiatives in terms of improving public health?
National audits have shown an increase in the number and range of genetic tests provided to NHS
patients, screening uptake and provision of novel drugs requiring companion diagnostics.
7. What initiatives would you hope to undertake in future?
Please see HGSG recommendations –Q5.
8. What social and economic factors have limited your country’s ability to implement genomics
for public health – for instance:
Please see HGSG report –Q5.
o
o
o
o
o
o
o
o
perceived relevance to local needs?
availability of research funding?
availability of implementation funding?
market access or incentives for pharmaceutical and medical technology manufacturers?
availability of trained personnel?
public resistance?
national or international regulatory regimes?
other factors?
9. What steps need to be taken in your own country to overcome such constraints?
Please see HGSG recommendations –Q5.
10. What sorts of international strategies would most help you to overcome such constraints?
SECTION 3: GLOBAL PUBLIC HEALTH
11. What do you see as the main priorities for global public health?
The United Nations Millennium Development Goals are eight goals that all 191 UN member states have
agreed to try to achieve by the year 2015. The United Nations Millennium Declaration, signed in September
2000 commits world leaders to combat poverty, hunger, disease, illiteracy, environmental degradation, and
discrimination against women. The MDGs are derived from this Declaration, and all have specific targets
and indicators.
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The Eight Millennium Development Goals are:
•
to eradicate extreme poverty and hunger;
•
to achieve universal primary education;
•
to promote gender equality and empower women;
•
to reduce child mortality;
•
to improve maternal health;
•
to combat HIV/AIDS, malaria, and other diseases;
•
to ensure environmental sustainability; and
•
to develop a global partnership for development.
In addition to these priorities:
The prevention of avoidable birth defects
12. How could genomics contribute to meeting those priorities?
Diagnostics to inform appropriate therapy / treatment
13. What initiatives have been undertaken in your country to address global public health needs
rather than (or as well as) country-specific ones?
Helen Lee’s diagnostic development programme at the University of Cambridge
The PHGF Birth Defects project is developing public health tools to help low income countries to
undertake needs assessments and prevent avoidable birth defects (the implications of which are
much more profound for people in these countries). This work feeds into a WHO initiative in the
area of birth defects.
The PHGF's COGS project (Collaborative Oncological Gene-environment Study) is part of
an EU funded, international study which is looking at the feasibility of stratifying the target
populations for cancer screening programmes (using breast and prostate as examples) using
genetic testing so that screening can be tailored according to individual risk and so maximize
benefit and reduce potential harm from screening
14. What have been the major successes of these initiatives?
15. What initiatives would you hope to undertake in future?
16. What other countries do you look to as examples of good practice in genomics for public
health? Why those countries in particular?
USA led by Bill & Melinda Gates Foundation – search for innovative and technologies and
solutions for optimal use in low resource settings
17. What sorts of international strategies would help your country to implement genomics to meet
global as well as domestic public health needs?
Collaborative working
Data sharing
Disease Classification
Technological developments
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Thank you for completing the questionnaire!
[Please return this document to your Country Coordinator within two weeks of receipt]
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