National Genome Strategy

Using genome data to improve

human health

Hanasaari 12 January 2015

• Drawing up the genome strategy

• Proposed vision for the genome strategy

• Proposed goals and actions for the genome strategy

• Enabling goals

• Key goals

• Key observations about the goals and actions

Proposed goals and actions for the genome strategy

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Content

• Drawing up the genome strategy

• Proposed vision for the genome strategy

• Proposed goals and actions for the genome strategy

• Enabling goals

• Key goals

• Key observations about the goals and actions

Proposed goals and actions for the genome strategy

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Content

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Drawing up the genome strategy

• On 12 August 2014, the Ministry of Social Affairs and Health (MSAH)

established a working group to draw up a national genome strategy

• The working group’s term of office is 1 September 2014 to 30 April 2015

• The working group is responsible for drawing up a national genome

strategy, while the health division of the Advisory Board on Biotechnology

serves as an advisory body

• MSAH is working together with Sitra on the formulation of the strategy

• The secretariat of the working group has been responsible for the practical

implementation of the strategy work

• In addition, Sitra surveyed the public’s and doctors’ attitudes on genetic

testing in December 2013

The working group

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Drawing up the genome strategy

• A total of six workshops were organised for stakeholders during the strategy

formulation process

• Kick-off: who owns genome data?

• Genomic research as part of healthcare

• The ethics of genomics

• Genome data impact on healthcare

• How do information systems facilitate the use of genome data?

• Innovations and business in genomics

• More than 100 people participated in the workshops

• The participants included representatives of patient associations, healthcare

professionals, researchers, ethicists, lawyers and representatives of

companies

• The workshops produced input for use in formulating the strategic goals and

for general background material for the strategy work

The workshops

• Drawing up the genome strategy

• Proposed vision for the genome strategy

• Proposed goals and actions for the genome strategy

• Enabling goals

• Key goals

• Key observations about the goals and actions

Proposed goals and actions for the genome strategy

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Content

In 2020, efficient use will be made of genome data in fostering

human health

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National Genome Strategy 2020

Vision

• Drawing up the genome strategy

• Proposed vision for the genome strategy

• Proposed goals and actions for the genome strategy

• Enabling goals

• Key goals

• Key observations about the goals and actions

Proposed goals and actions for the genome strategy

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Content

The strategic goals

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Ethical principles and legislation will govern the responsible use of genome data

Healthcare personnel will be well

placed to use genome data

Finland will have information systems in

place for making efficient use of

genome data

Genomic research will be deeply integrated into healthcare operations

Genome data will be

widely used in healthcare

through a model based

on individual and

population needs

Individuals will be able to

make use of genome

data in their own lives

Finland will be an

internationally desirable

research and business

environment in the field

of genomics

Key goals

Enabling goals

Ethical principles and legislation will govern the responsible

use of genome data

• Develop and validate ethical principles for the use of genome data, and

identify the values guiding the work of professionals

• Assess the need for legislative changes and make the necessary preparations

• Examples: prohibition of discrimination, legal status of genetic tests pertaining to insurance,

the right to know or not know, data security, equality, protection of privacy, right to high-quality

healthcare services, genetic testing in working life and within the public sector

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Genomic research will be deeply integrated into healthcare

operations

• Create a national reference and variation database

• Plan and implement a routine method for collecting consent for genomic research in

connection with public healthcare visits that takes human rights into account

• Create a procedure for evaluating which incidental findings of genomic research will be

communicated to an individual

• Agree on the procedure for communicating incidental findings of genomic research to an

individual

• Find out what is required for making use of information obtained through

genomic research in healthcare and act on the basis of the results

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Healthcare personnel will be well placed to use genome data

• Bring the teaching of genomics included in the basic training and

specialisation studies of healthcare professionals up to date

• Incorporate the teaching of genomics by mainstreaming it to all the clinical skills courses

included in the basic training of doctors

• Develop and implement a training programme for doctors and other healthcare

professionals who have already started their working lives

• Develop a communications programme for healthcare professionals regarding the

communication of genome data to health service users

• Conduct a needs-based assessment concerning the training of a new group of

professionals, genetic counsellors, and other professionals in the field of

genomics, and initiate the training, if so required by the assessment results

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Finland will have information systems in place for making

efficient use of genome data

• Develop a holistic architecture for genome data

• Create a national platform that provides a flexible way of bringing together healthcare and

research data, and data from biobanks

• Set the national standards required for guiding the recording, transmission and use of genome

data

• Introduce a well-being and healthcare data management platform for personal use that

enables individuals to record and make use of genome data

• Establish connections to the necessary international databases

• Draw up national data security and data protection guidelines

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• Promote the use of genetic risk profiling in the prevention of diseases

• Ensure that sufficient genetic testing is conducted on patients to determine the

cause of the disease and that the results also benefit family members and

other relatives

• Develop a procedure for the systematic evaluation of genetic tests while

taking account of international recommendations (clinical validity and utility)

• Draw up and update the guidelines for the use of genome data in the

prevention and treatment of diseases (indicators for ordering tests, customer

guidance, information services)

• Provide doctors with a clinical decision-making support tool based on genome

data

• Analyse the costs and benefits of making use of genome data

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Genome data will be widely used in healthcare through a

model based on individual and population needs

Individuals will be able to make use of genome data in their

own lives

• Provide the capacity to use genome data by incorporating it into the teaching

in secondary schools and in secondary education

• Have healthcare professionals provide health service users with information

on how to use genome data to foster their own health

• Develop a service path and guidelines for individuals on what type of genetic

tests are available and where and how, and also what type of genome

interpretation services and information related to genetic tests is on offer

• Provide individuals with access to genome data tools (e.g. through a citizens’

portal)

• Provide individuals with instructions on how to use genome data in fostering personal health

and decision-making support tools

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Finland will be an internationally desirable research and business environment in the field of genomics

• Develop a national service point for companies and research organisations

that offers services related to research, agreement and commercialisation

matters in a centralised manner. A service point based on the one-stop shop

principle also serves as a co-ordination body for international co-operation

projects

• Develop a national operating model for co-operation between the public and

private sector that enables making use of genome data, and the health

information linked to it, in research and product development projects

• Provide access to genome data and health information compiled from the data

sources of various organisations for use in research and development

activities

• Establish a funding, productisation and commercialisation programme for

stimulating applications and products developed on the basis of genomic

research

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Key observations about the goals and actions

• Need to make efficient use of genome data and other health information and prevent

them from becoming fragmented

• Need for a national-level operator with the ability to co-ordinate and steer work at a

national level, and provide a one-stop service point for issues concerning genomics

• The next stage will involve concrete proposals, allocation of responsibilities and setting

a timeline for making the goals a reality

• Founding a genome centre

• To handle the practical implementation of the genome strategy

• To offer services related to research, agreement and commercialisation matters in a centralised manner

• To make the ethical procedures more uniform and efficient

• To develop a national reference and variation database

• To promote networking and co-operation between parties in the field of genomics

• To facilitate Finland’s participation in international co-operation projects

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