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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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