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“Capacity Building for the Transfer of Genetic/Genomi c Knowledge into Practice and Prevention: The
CAPABILITY International Collaborative Network“
I. NippertUniversitätsklinikum, Westfälische Wilhelms - Univer sität
Münster, Germany
Capacity Building for the Transfer of Genetic Knowledge into
Practice and Prevention
CAPABILITY: a 3 year model project(2007-2009)
Funded by FP6 - 037275
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The Challenge…
• Genetic tests are increasing in number and complexity
• Increasing knowledge about gene-disease associations will lead to new opportunities to apply genetic/genomic knowledge in practice and prevention
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The Challenge…
• A growing number of tests have broader population based applications
• Testing will move into primary care and prevention services
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• Genetic testing is currently highly fragmental
• Diverse and heterogeneous quality schemes
• Lack of adequate counselling
The Challenge…
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• Widening gap between the technology led supply of testing and services to meet patient needs
• Rising demands for genetic services
The Challenge…
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• Lack of health professionals educated in genetics
• Lack of an informed public (genetic illiteracy)
The Challenge…
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• Before genetic tests are introduced into general practice the benefits of their use must be evaluated
The Challenge…
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Worldwide, health care systems are facing the same challenges:
• The need to develop an evidence-based evaluation process for genetic tests or other applications of genomic knowledge in transition from research into practice.
• The need for capacity building to enable health care systems to make effective use of genetic/genomic applications with proven clinical utility.
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• Reports and recommendations
Evolution to CAPABILITY
� Secretary’s Advisory Committee on GeneticTesting (Bethesda 2000)
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Suggested enhancements in oversight by pre-market review and approval of new tests in the US
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• Reports and recommendations
Evolution to CAPABILITY
� Institute for Prospective Technological Studies(Seville 2003)
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Genetic testing in Europe, while based upon high quality scientific know-how, suffers from disorganisation and fragmentation of services, caused by a lack of structuring and complementarity at the European level and the absence of a common European objective to provide quality services to all its consumers:
“A European, or even higher international level, approach is required.”(Towards quality assurance and harmonisation of gen etic testing services in the EU, Report EUR 20977 EN, Executive Summary, Page 4.)
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• Reports and recommendations
Evolution to CAPABILITY
� Organisation for Economic Co-operation and Development (Paris 2005)
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The “internationalisation” of genetic testing for medical and research purposes and the establishment of genetic testing networks has become inevitable and necessary.
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US Funded Projects
AA nalytic validity
CC linical validity
CC linical utility
EE thical, Legal & Social implications
Analytic framework 40 + targeted questions
Funded by CDC (2000-2004), Office of Genomics and Disease Prevention
The ACCE evaluation process for genetic testing
Source: http://www.cdc.gov/genomics/gtesting/ACCE.htm
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Establish and evaluate a systematic and sustainable mechanism for pre- and post-market evaluation of genomic applications in the US(2004-2007)
Funded by CDC, Office of Genomics and Disease Prevention
US Funded Projects
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http://www.egappreviews.org/workingrp/topics_diagram.htm
EGAPP – Topics Chart
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Criteria and Considerations for Prioritization and Sele ction of Evidence Review Topics
• Availability – What is the availability of the test in clinical practice?
• Inappropriate use – What is the likelihood that the test could or will be used
inappropriately?
• Impact – What is the potential impact of an evidence review or
recommendations on clinical practice? On consumers?
Criteria Related to
Practice Issues
• Prevalence - What is the potential public health impact based on the
prevalence/incidence of the disorder, the prevalence of gene variants, or the
number of individuals likely to be tested?
• Severity – What is the burden of disease?
• Association – How strong is the reported relationship between a test result
and a disease/drug response?
• Intervention – Is there an effective intervention for those with a positive test or
their family members?
• Relevance – Who will use the information in clinical practice (e.g., healthcare
providers, payers) and how relevant might this review be to their decision-
making?
Criteria Related to
Health Burden
http://www.egappreviews.org/workingrp/topics.htm
EGAPP – Topics
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• Project objectives – How does the test add to the portfolio of EGAPP
evidence based reviews? As a pilot project, EGAPP aims to develop a portfolio
of evidence reviews that adequately test the process and methodologies.
• Availability of evidence - What is the body of data availability and is a
recommendation likely to be possible? EGAPP is attempting to balance
selection of somewhat established tests versus emerging tests for which
insufficient evidence or unpublished data are more likely.
• Practical issues – Are there other considerations? For example, avoiding
duplication of evidence reviews already underway by other groups.
• Ensuring diversity in reviews – In what category is this test? (As a pilot
project, EGAPP aims to consider different categories of tests (e.g.,
pharmacogenomics or cancer), mutation types (e.g., inherited or somatic) or
test types (e.g., predictive or diagnostic)
Other Considerations
http://www.egappreviews.org/workingrp/topics.htm
EGAPP – Topics
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Criteria and Considerations for Prioritization and Sele ction of Evidence Review Topics
A European Network of Excellence aiming at harmonizing genetic testing services (2005-2009)
www.eurogentest.org
EU Funded Projects
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• Establish a network of quality across Europe
• Promote research, proper utilization, quality control and assurance and adequate management of genetic services
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• Establish procedures and guidelines for the validation of methods and technologies
• Provide genetic healthcare workers, the end-users and healthcare authorities with a portfolio of quality-assured information sources and informatic tools that are subject to validation and quality procedures
In addition, EuroGentest aims at becoming a model for similar initiatives in developing countries and will provide appropriate support for their development.
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It may be beneficial in the longer term for other jurisdictions, such as the Latin American countries, the Middle East, South Africa, to participate in similar harmonization activities, as they may benefit more from this model than from one developed for a single country (e.g. the United States).
Case Study: European Union
Source: http://www.who.int/genomics/policy/eu/en/in dex.html, accessed: 03/06/2006
WHO recommendations
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Capacity Building for the Transfer of Genetic Knowledge into Practice and Prevention:The CAPABILITY Project
International Partners
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CAPABILITY: a 3 year model project(2007-2009)
CAPABILITY is a S pecific S upport A ction (SSA) for EuroGentest units 3 (Public Health)
and 6 (Education)
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CAPABILITY International Partners
• National Health Laboratory Services, The Department of Human Genetics, University of Witwatersrand, Johannesburg, South Africa
• Project Leader: Arnold Christianson
Proposed Greater Sekhukhune Outreach Programme: an evidence based approach for developing medical genetic services in
South Africa
CAPABILITY Demonstration Project 1
Source: CAPABILITY Website - http://www.capabilityne t.eu/EU
• Children with Special Needs Department, Ministry of Health and Population, Egypt
Source: CAPABILITY Website - http://www.capabilityne t.eu/
Capacity Building Project (Community Education in Health Aspects of Genetics)
Capacity Building Project (Community Education in Health Aspects of Genetics)
Goal:� To develop and implement a module for community edu cation
on the prevention and care of genetic disorders.
Phases of the Project:
I. Preparatory Phase:
1) Selection of:a) setting b) target population
� Criteria for selection of the setting:• Rural area
• Closed Community
• Inaccessible tertiary care
• High prevalence of genetic disorders
• Project Leader: Randa Kamal Abdel-Raouf
CAPABILITY International Partners
Source: CAPABILITY Website - http://www.capabilityne t.eu/
� Criterion for selection of target population:
• Persons who have an influence on the community:
a) Community Leaders:
• Mayor of the village
• Emam, Priest
• Members of popular assembly
b) Traditional birth attendants (Daya)
c) Influential persons in the family:
• Mothers, mothers in law, grand-mothers
2) Situation analysis: Study of the sociodemographiccharacteristics of the selected community
* Education * occupation * resources
* Family size and family planning * Consanguinity
* M/F ratio * Culture (beliefs, behaviors, attitude)
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• Medical Genetic Services, Hospital de Pediatria S.A.M.I.C. “Prof. Dr. Juan P. Garrahan”, Buenos Aires, Argentina
• Project Leader: Cristina Barreiro
Local Local CharacteristicsCharacteristics::
• Chaco has an infantinfant mortalitymortality rateof 19.7%0 (INDEC 2005)
•• UnsatifiedUnsatified basicbasic needsneeds : > 30%
•• EndogamicEndogamic aborigenalaborigenalpopulation
• Geographically isolated regions:
TheThe ImpenetrableImpenetrable
•The province of ChacoChaco waschoosen for a demonstrationproject
Local Local CharacteristicsCharacteristics::• Office for Distance Communication
connecting local health care centers andthe Garrahan Hospital in Buenos Aires.
• Public Health Project: designed to improve quality of medical assistance.
• Current Project: On-line ClinicalRecords (HCUA)
• Well-functioning Referral System(ambulances, cars)
Our aim is to develop a programof genetic diagnosis andcounseling in the province of Chaco through capacity building
When social conditions are hard, the burden of genetic disease isincreased
Source: CAPABILITY Website - http://www.capabilityne t.eu/
CAPABILITY International Partners
CAPABILITY Components
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CAPABILITY Overview
CAPABILITY CAPABILITY WorkingWorking GroupGroup
Systematic reviewsIdentify knowledge gaps &
data neededDraft model approach
Model for test
evaluation& capacity
building
International DemonstrationProjects Scientific
community
Consumers
Health policymakers
Health careproviders
NGOs
Private sector
Evaluation
MoDGlobal
Programs
Researchers/Scientists
Laboratories
Consumers’ patient organisations
Industry
Policy makers
Health care providers
STAKEHOLDERS
Refer for appraisal
CAPABILITY Working Group
MultidisciplinaryInternational
Experts
Representing:• clinical genetics
• genetic epidemiology
• health service research
• health technology assessment• evidence-based medicine• molecular genetics
• parent and patientorganisations
• primary care providers• public health genetics
• ethics
Regular workshops & international meetings
Observers
• World Alliance of Organizations for the preventionand treatment of genetic and congenital conditions(WAO).
• Central Europe and Eastern Countries Genetic Network.
• Clinical Genetic Service Centre, Department of Health, Hong Kong Special Administrative Region.
• Asia Pacific Society of Human Genetics (APSHG).
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Capacity Building for the Transfer of Genetic Knowledge into Practice and Prevention: The CAPABILITY Project
To contribute to the establishment of a sustainable systematic, evidence-based process for assessing genetic tests or other applications of genomic technology in transition from research to practice at an international level.
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• Goals
CAPABILITY Methods
• Bring together key stakeholders for the systematic transfer of genetic testing from research into clinical practice by means of frameworks for an evaluation process agreed by academics, clinicians and policy makers
• Seek agreement on standards
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CAPABILITY Objectives
• Identify priorities for capacity building for providing appropriate services by systematic needs assessment surveys
• Evaluate the approach via demonstration projects to be conducted at 4 target sites
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CAPABILITY will use knowledge gained from previous evaluation
projects
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A key objective of CAPABILITY is to engage the interest of a wide
range of stakeholders
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• To promote an internationally shared set of basic quality standards for genetic testing and the provision of appropriate genetic services in primary care and public health
• To lay the foundation for a sustained collaboration, that will continue and be open for international partners
• To start collaboration by joint projects
CAPABILITY Networking Goals
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CAPABILITY Objectives
• Disseminate the model approach to targeted audiences
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CAPABILITY will help
• To promote proper implementation of new genetic knowledge, quality assurance and adequate provision of genetic services at a global level
• To identify present and future needs for capacity building mechanisms
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CAPABILITY will help
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• To enable health care systems to integrate genetic knowledge appropriately, based upon local needs and priorities
• To strengthen the kinds of basic capacities that will allow participating developing countries to more easily incorporate the benefits of genetic/genomics research as they unfold
• To reduce inequalities in genetics health care between countries with developed services and countries starting to develop services
CAPABILITY will help
• To avoid the opportunistic introduction of underevaluated technology driven genetic testing and concentrating on those areas where greatest gain for health is to be secured
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CAPABILITY will help
• To create the expectation at all levels of health care systems that genetic tests should be subject to a systematic evaluation process prior to translation into general practice
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CAPABILITY approach has been adapted by the March of Dimes Global
Programs in 2007
• BRAZIL (Medical Genetics Service, Hospital de Clinicas de Porto Alegre)
• CHINA (Peking University Center of Medical Genetics )• LEBANON (American University of Beirut)• PHILIPPINES (Institute of Human Genetics, National
Institutes of Health)
PPHN is linked with CAPABILITY
Partnership for Perinatal Health Networks (PPHN) inclu des:
Thank you
for your attention!
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