IMPROVING HEALTH THROUGH THE USE OF GENOMIC DATA - Finland s Genome Strategy Working Group Proposal - Sitra
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IMPROVING HEALTH THROUGH
THE USE OF GENOMIC DATA
Finland´s Genome Strategy
Working Group Proposal
ABSTRACT
Recent advances in genomic re- information should be strengthened, solid basis for implementing the pro-
search are leading to a new era in and people need to be empowered posed actions.
medicine. In the next few years, the to improve their own health by
use of genomic data in healthcare effective use of genomic information. Finland has the potential to grow into
will rapidly increase. In the future, an internationally interesting partner
decisions regarding the prevention The working group proposes the in genomics research and genomics-
and treatment of diseases will be establishment of a national genome related enterprise. This objective can
increasingly based on an individual’s centre that would bring together all be achieved through closer coope
genetic makeup. This major change parties within the field of genomics. ration between the relevant stake-
in medicine requires careful prepa- The centre will have the responsibi holders in Finland and by entrusting
ration. lity for development of the national the national genome centre with the
reference database and for imple- negotiation of contracts on behalf of
The National Genome Strategy sets menting many of the actions inclu the Finnish partnership network. A
key measures for ensuring that, by ded in the genome strategy. A legal national service point at the genome
2020, genomic data will be effec- framework should be developed for centre would enhance genomics
tively used in healthcare and in the the genome centre, and government research and innovation, benefiting
promotion of health and wellbeing. funding for the centre needs to be directly both Finns and Finland’s
Achieving this objective will require secured. A strong tradition of genetic health services. However, the window
development of a Finnish national research in Finland, the existing of opportunity for exploiting Finland’s
reference database of genomes to comprehensive health registers and strengths will be open for a few years
be used in clinical care and research. population databases, and the high at best.
The capacity of healthcare pro- quality sample collections in biobanks
fessionals to apply genome-based are valuable assets that provide a
KEY WORDS:
DATA PROTECTION | DATA SECURITY | GENE TESTS | GENES | GENOME | GENOMICS
PERSONALISED MEDICINE | PHARMACOGENETICS
3
TIIVISTELMÄ
Perimän tutkimuksessa saavutetut on vahvistettava terveydenhuollon Suomella on kaikki edellytykset
edistysaskeleet johtavat uuteen ammattilaisten valmiuksia käyttää nousta kansainvälisesti tavoitelluksi
aikakauteen lääketieteessä. Genomi- genomitietoa sekä ihmisten kykyä yhteistyökumppaniksi genomi-
tiedon eli ihmisen koko perimästä tehdä terveyteensä liittyviä päätöksiä. tutkimuksessa ja genomiikka-alan
saatavan tiedon käyttö terveyden- yritystoiminnassa. Tämä tavoite
huollossa yleistyy lähivuosina. Tulevai- Työryhmä esittää kansallisen, kaikki saavutetaan tiivistämällä toimijaken-
suudessa terveyden edistäminen ja toimijat yhdistävän genomikeskuk- tän yhteistyötä ja antamalla genomi-
sairauksien hoito suunnitellaan usein sen perustamista. Sen tehtävänä on keskukselle valtuudet valmistella
yksilöllisesti perimästä saatavan tie- vastata valtakunnallisen genomitie- keskitetysti sopimuksia suomalai-
don perusteella. Tähän muutokseen tokannan kehittämisestä ja usei- sen yhteistyöverkoston puolesta.
on valmistauduttava huolella. den genomistrategiaan sisältyvien Kansallisen palvelupisteen luomi-
toimenpiteiden toimeenpanosta. nen genomikeskukseen tehostaisi
Kansallisessa genomistrategiassa esi- Genomikeskuksen perustamisesta suuresti genomitutkimusta ja alan
tetään keskeiset toimenpiteet, joilla olisi säädettävä lailla ja sen kansal- kehitystoimintaa, joiden tulokset
varmistetaan genomitiedon tehokas linen rahoitus olisi varmistettava. hyödyttäisivät suoraan suomalaisia ja
hyödyntäminen terveydenhuol- Suomen vankka osaaminen geenitut- suomalaista terveydenhuoltoa.
lossa sekä terveyttä ja hyvinvointia kimuksessa, kattavat terveystietojen Aikailuun ei kuitenkaan ole syytä.
edistävässä päätöksenteossa vuonna tietovarannot ja biopankkien korkea- Aikaikkuna Suomen vahvuuksien
2020. Tavoitteeseen pääseminen laatuiset näytekokoelmat muodosta- hyödyntämiselle on korkeintaan
edellyttää kansallisen genomitieto- vat huomattavan kansallisen pää- muutama vuosi.
kannan perustamista ja tietokannan oman, johon perustuen ehdotetut
hyödyntämistä potilaiden hoidossa toimenpiteet voidaan toteuttaa.
ja tieteellisessä tutkimuksessa. Lisäksi
ASIASANAT:
FARMAKOGENETIIKKA | GEENIT | GENOMI | GEENITESTIT | GENOMIIKKA | PERIMÄ
TIETOSUOJA | TIETOTURVA | YKSILÖLLISTETTY LÄÄKETIEDE
4SAMMANDRAG
Framstegen inom genomforskningen inom hälso- och sjukvården har att samarbetspartner inom genomforsk-
håller på att inleda en ny tidsera använda genominformation och den ning och företagsverksamhet inom
inom medicinen. Användningen av förmåga som människor har att fatta genomikbranschen. Detta mål kan
genominformation, dvs. information beslut som berör den egna hälsan uppnås genom ett tätare samarbe-
om människans hela arvsmassa, behöver stärkas. te mellan de olika aktörerna och
kommer under de närmaste åren genom att genominstitutet ges be-
att öka inom hälso- och sjukvården. Arbetsgruppen föreslår att det fogenheter att centralt bereda avtal
I framtiden kommer hälsofrämjan- inrättas ett nationellt genomcentrum på det finska samarbetsnätverkets
de och vård av sjukdomar ofta att som förenar alla aktörer och som vägnar. Inrättande av ett nationellt
planeras individuellt utifrån den ska svara för utvecklandet av den serviceställe vid genomcentrum-
information som fås från genomet. nationella genomdatabasen och ge- et skulle i stor grad effektivisera
Den här förändringen måste man nomförandet av flera av de åtgärder genomforskningen och utvecklandet
omsorgsfullt förbereda sig inför. som ingår i genomstrategin. Försla- av branschen, och resultaten av
get innebär att det föreskrivs genom denna verksamhet kunde komma
I den nationella genomstrategin fö- lag om inrättande av ett genomcen- till direkt nytta för finländarna och
reslås centrala åtgärder genom vilka trum och att den nationella finansie- den finländska hälso- och sjukvården.
det kan säkerställas att man i Finland ringen säkerställs. Finlands gedigna Tidsramen för utnyttjandet av Fin-
år 2020 effektivt använder genomin- kunnande inom den genetiska forsk- lands styrkor är dock högst några år.
formation till godo för människor- ningen, de heltäckande datalagren
nas hälsa inom hälsovården och i för hälsodata och de högkvalitativa
beslutsfattande som främjar hälsa provsamlingarna i biobankerna bildar
och välmående. För att målet ska ett betydande nationellt kapital som
uppnås krävs det att det inrättas en genomförandet av de föreslagna
nationell genomdatabas som det är åtgärderna kan grundas på.
möjligt att utnyttja i vården av pa-
tienter och i vetenskaplig forskning. Finland har alla förutsättningar för
Det kunnande som yrkespersoner att bli en internationellt eftertraktad
NYCKELORD:
ARVSMASSA | DATASEKRETESS | DATASÄKERHET | FARMAKOGENETIK | GENER | GENOM
GENOMIK | GENTEST | INDIVIDUALISERAD MEDICIN
5FOREWORD
Within the next few years, recent The Chair of the working group was The working group used the views
advances in genomics technology Director Liisa-Maria Voipio-Pulkki presented during the workshops to
will enable wide-ranging use of from MSAH’s Department for draft strategic goals and proposals
genomic data in clinical care and in Social and Health Services, and the for an action plan. The stakeholders
the prevention of diseases. Com- Vice-Chair was Professor Kristiina gave their feedback on the propos-
prehensive planning is required to Aittomäki from the University of als during a hearing and discussion
prepare for this change. The devel- Helsinki and the Hospital District of held on January 12, 2015. The ex-
opment of such a plan was included Helsinki and Uusimaa’s laboratory perts and anyone else interested in
in the recommendations of the service (HUSLAB). The members of the subject were given the oppor-
national Strategy for Growth in Re- the working group are presented in tunity to comment on the proposals
search and Innovation in the Health Appendix 2. and the draft strategy through the
Sector, published in May 2014 (MEE Innovillage collaborative develop-
reports 12/2014). In the formulation of the strategy, ment platform and the “otakantaa.fi ”
the Ministry of Social Affairs and service which enables people to ex-
The Ministry of Social Affairs and Health worked closely with the press their views on public decisions.
Health (MSAH) set up a working Finnish Innovation Fund Sitra. The The feedback was taken into consid-
group to formulate a National Health Section of the Advisory eration when finalising the strategy.
Genome Strategy in healthcare Board on Biotechnology acted as a During the development of the
during the period of 1.9.2014 – consultative expert group. strategy, an active public communi-
30.4.2015. The strategy will establish cations programme on the progress
the conditions that are required for During the autumn of 2014, the of the work was maintained.
the effective utilisation of genomic working group organised six
data in Finnish healthcare. It will also workshops on different themes. Having completed its work, the
promote genomics research and More than one hundred experts working group respectfully sub-
the development of applications for from various fields participated, as mits its unanimous proposal for a
genomic data in the field of human did representatives of other stake- National Genome Strategy to the
health. holder groups such as companies. Ministry of Social Affairs and Health.
Liisa-Maria Voipio-Pulkki Antti Kivelä Kristiina Aittomäki
Director Director Professor, Chief Physician
Health Services Group Sitra University of Helsinki and HUSLAB
Ministry of Social Affairs and Health .
6CONTENTS
1. Introduction ............................................................................................................................................................. 8
2. Finland as a utilizer of genomic data.........................................................................................................12
3. Goals of the genome strategy......................................................................................................................15
3.1 Ethical principles and legislation govern the responsible use of genomic data................18
3.2 Genomics research is closely integrated into healthcare..............................................................20
3.3 Healthcare personnel have the knowledge and skills to use genomic data.......................22
3.4 Finland has information systems enabling the effective use of genomic data...................23
3.5 Genomic data are widely used in healthcare based on individual
and population needs........................................................................................................................................26
3.6 Individuals are able to make use of genomic data in their own lives.....................................29
3.7 Finland is an internationally attractive research and business environment
in the field of genomics....................................................................................................................................31
4. Roadmap for implementation and monitoring...................................................................................33
Appendix 1 Useful links..................................................................................................................................................37
Appendix 2 Genome Strategy Working Group membership..................................................................38
71. INTRODUCTION
The novel research methods in genetics open up new possibilities to identify the causes of human health and
disease, as well as to create new means for disease prevention and targeted care. The use of genomic data, i.e.
information about an individual’s whole genetic makeup, is rapidly increasing in healthcare. In the future, health
promotion and the treatment of diseases will be increasingly based on individual genetic makeup. Genomic data
will enable us to make better individualised choices, to target the screening of the diseases more precisely, to
make more accurate diagnosis and to select the most effective care.
WHAT IS KNOWN Above all, we have seen the high more accurately. In addition, we can
ABOUT A PERSON’S level of variation in people’s genet- identify individual risks of disease
GENETIC MAKEUP? ic makeup, and understood that and prevent diseases before their
Human genetic makeup or genome individual differences in susceptibil- onset. The use of genetic informa-
has been researched for decades in ity to many common diseases are tion will also enable people to take
order to diagnose diseases and to related to this variation. Thus we can
understand their causes. There was presume that preventive methods
a significant step forward in genome and individual treatments can also Practical applications of
genomic data
research in 2000, when the full se- be developed for the most common
quence of the human genome was diseases. These methods would be
completed. Although not perfect, it applied especially in high risk groups. Cost-effective drug treatment
with pharmacogenomic tests
launched a technological develop- Clopidogrel is a commonly used drug to
ment producing a range of methods SIGNIFICANCE OF GENOMIC prevent clotting in the blood vessels of
which could be applied to genome DATA TO THE INDIVIDUAL the heart and brain. Every year about
research and were significantly more AND THE SOCIETY 30,000 new patients are prescribed this
cost-effective than before. Data on individual genetic makeup is medication in Finland. For about 15-25%
a key to promoting health and well- of patients the prevention of vascular
The new genomic methods, i.e. being as well as new thinking about events is low because the genetic
methods that examine the entire healthcare and practices. Extensive changes in the CYP2C19 enzyme slow
genetic makeup of a person instead use of genomic data is expected to down the production of the active drug
of individual genes, expand the use produce significant benefits in their bodies. Therefore, in order to
evaluate the effectiveness of the drug
of genetic information to cover hu- (Figure 1). Individuals will be able
treatment, a CYP2C19 genetic test
man health, susceptibility to diseases, to get more effective medicines and
should be carried out on patients before
and changes in the genetic makeup care. It will be possible to diag- prescribing clopidogrel.
that are linked to a specific disease. nose diseases at an early stage and
8responsibility for their own health
Practical applications of genomic data
and wellbeing, should they so wish.
Since the new technologies have
Prevention and targeted treatment of diabetes
significantly reduced the cost of se-
Diabetes (DM) is one of the fastest growing diseases in Finland and the world.
quencing the genome, various types
Over 500,000 Finns suffer from diabetes, and it is estimated that the number of patients
of genetic tests are being offered could double during the next 10−15 years.
also direct-to-consumer around the
world. These technologies enable The spectrum of diabetes is complex. Molecular genetic research has also identified
anyone to obtain information on his rare hereditary forms. There are over one hundred known genetic changes increasing
or her own genetic makeup. The ob- predisposition to the most common form, type 2 diabetes, but there could be thousands
jective of the genome strategy is to of these changes in the genome. Therefore people belonging to genetic risk groups have
create equal opportunities to health a large number of modifications in their genetic makeup that make them susceptible to
benefits brought by genomic data. diabetes.
Combining information on genetic If each year 2-5% of diabetes cases could be prevented by risk profiling and
preventive action, the direct savings in health care costs would be 28–70 million euros
makeup with health data will con-
a year including the additional costs caused by co-morbidities of DM. In addition, more
tinuously generate new information
accurate identification of the sub-type of diabetes would help to predict the course of the
about the relationship of genetic disease in each patient and to select targeted treatment.
makeup to diseases and the results
of their treatments. This information
will benefit and save the costs of
ic data, and commercial activities will should have confidence that their
healthcare, as interventions can be
have a point of contact for building genetic information is used in an
designed to be more preventive and
up innovation and business around ethically responsible and legally
cost-effective
genomic data. sound manner. Genomic data are
sensitive personal data. Therefore
If Finland succeeds in building an
The systematic collection of genetic data protection regulations will have
interesting research and business en-
information has increased rapidly to be taken into consideration in the
vironment in the field of genomics,
in several countries during recent implementation of the strategy. Par-
this could generate significant new
years. In order for genetic infor- ticular attention should be paid to
scientific and commercial activities
mation to be more widely used in the secure use of genomic data and
for Finland. Research will benefit
healthcare, clinical research and in the maintenance of people’s trust.
from improved availability of genom-
commercial applications, people
9BENEFITS OF USING GENOMIC DATA EFFECTIVELY
More effective
prevention of Better
diseases possibilities
for individuals
Targeted to promote
screening their own health
Increased
wellbeing
More effective Cost-effective More productive
diagnosis healthcare research
Interesting innovation
environment
Increased
economic
Personalised
activity
treatment
Safer
medication
Figure 1. The benefits of using genomic data effectively.
10GENOMIC TECHNOLOGY
IS TRANSFORMING Practical applications of genomic data
HEALTHCARE
Genetic tests are already fairly wide- Genetic test reduces morbidity and mortality
Lynch syndrome is a hereditary condition causing susceptibility to cancer. It has a high risk
ly used in healthcare. In 2012,
of colon cancer, and uterine and ovarian cancer in women. The child of a carrier of the
approximately 100,000 genetic
genetic defect has a 50% risk of inheriting the defect. All carriers of the genetic defect
tests were carried out in Finland. Of
are monitored regularly by colonoscopy. Those who have not inherited the genetic defect
these, about 30% were carried out do not need follow-up.
to diagnose hereditary diseases and
to identify high susceptibility to Through follow-up of the carriers of the defect, over 50% of the colon cancer cases can
certain diseases. In the future, there be prevented by removing the precancerous lesions during colonoscopy. The prognosis of
will be no radical change in the confirmed cancer is generally good since they are detected at an early stage. Therefore
status of these genetic tests, but genetic tests are cost-effective and reduce both morbidity and mortality caused by Lynch
they will become more comprehen- syndrome.
sive and more cost-effective.
The application in healthcare of 1) Diagnostic tests for defining 4) Predicting susceptibility to
information gained from genome the cause of a rare disease or for common diseases by genetic risk
research is becoming significantly identifying high-risk susceptibility for profiling.
more diverse. Depending on their a specific disease
purpose, genome-wide tests can be This kind of use of genomic data
divided into the following groups: 2) Research into the molecular produces peronalized healthcare. It
mechanisms of diseases. For ex- predicts risks, prevents diseases and
ample, examination of the genetic is both customized and participatory.
changes in a malignant tumour as a Participatory means that a person
part of cancer treatment is more capable of taking care of his
or her health by having access to
3) Pharmacogenetic tests for the comprehensive information on the
assessment of the suitability of a factors affecting it.
specific drug for a patient’s treat-
ment
112. FINLAND AS A UTILIZER OF GENOMIC DATA
The genetic structure of the Finnish population provides us with a unique possibility to function as pathfinders
and early utilizers of genomic data. By combining genomic and health data we can identify connections of genetic
makeup to the health of the population and the effectiveness of treatment in a manner which would be difficult
or impossible elsewhere. Finland is also one of the world’s leading developers of health technology and experts
in information and communications technology. Finland has an opportunity to become a model country in com-
bining genetic information, clinical data and information on personal wellbeing.
INTERNATIONAL methods for early detection and Several other countries, such as Italy
OPERATING ENVIRONMENT treatment of diseases. and Canada, have launched projects
The opportunities for utilizing aiming at utilizing genomic data with
genomic data in medicine have Also Estonia has advanced in the the objective of improving national
been recognised around the world. collection and utilisation of genomic health care systems and making
Several countries have drawn up, or data. The legislation on research into them more efficient. On the other
are drawing up, strategies and action human genes was passed in 1999, hand, this can also be seen as a part
plans to utilize genomic data. and one year later Estonia’s genome of worldwide research and business.
project fund was established. In Nations that are the first to attract
For example, the British National Estonia, there is a specific objective international partners will gain the
Health Service (NHS) has launched to reduce the costs of healthcare by most benefit from cooperation.
a 300 million pound genome project investing in the use of genomic data
with the target of reading the ge- in the prevention of disease. FINLAND COULD BECOME A
netic makeup of 100,000 people. In MODEL OF GENOMIC DATA
Germany, the Ministry of Education NHS compares the genome project USE
and Research has earmarked 360 with the construction of railways Finland is particularly well placed to
million euros to promote personal- during the Victorian era. The railway utilize genomic data. From a global
ized medicine during the next three did not just provide a fast and perspective, Finland’s strengths in-
years. And in the United States, a 215 cheap way of moving from one clude a high standard of healthcare,
million dollar genome project has place to another, but also increased uniform treatment practices, reliable
been launched. All these projects aim commercial activity in many ways. healthcare registers, a long tradition
at utilizing the results in the health- The genome project is expected to of high-quality genetic research, and
care sector. At the same time they promote innovation and economic the willingness of the population to
generate data which can be used in activity within the health sector, participate in scientific research.
developing new medicines and which will contribute to creating
welfare in the country.
12Finns are genetically relatively and possible risk factors motivates out their consent, and that all the
homogenous. This provides special people to change their lifestyles measures are carried out according
opportunities to combine genomic and prevent diseases. If 2 to 5 per to the law, ethical and legal guide-
and health data. As a result, genetic cent of heart and vascular diseases lines as well as interfaces with data
mechanisms targeted by drugs can could be prevented, this would save security must be created.
be identified in a manner that is healthcare costs of 10–26 million
difficult, if not impossible, elsewhere. euros every year. There is a risk that the operating en-
Finland is also one of the world’s vironment becomes fragmented and
leading developers of health tech- THREATS AND RISKS that there will be several different
nology. In addition, we have good RELATED TO UTILISATION databases for storing genomic data.
skills in information and communica- OF GENOMIC DATA This would be particularly damaging
tions technology. In the future, it will Everyone must have an equal to Finland, given its comparatively
be possible for individuals to collect opportunity to benefit from small population. There is also a risk
information relating to their health genomic data. If Finland is not well that no new economic activity will
and lifestyle using the My Kanta Pag- prepared to make use of this data, be generated around genomic data
es service that is part of the national the development of healthcare in a research in Finland. In that case,
health data repository. more preventive and cost-effective potential international partners will
direction may be undermined. In this focus their interest elsewhere.
The ability of the Finnish healthcare case, genomic data would benefit
system to utilize the new possibilities mainly those who can acquire and New information technology
offered by genomic data depends utilise it on their own initiative. solutions help people to use their
on current information technology own genetic information safely. We
solutions and on the training of A critical requirement for the must ensure that genomic data are
healthcare professionals to utilize collection and utilisation of genomic generated and processed only by
genomic data. data is that people can trust it to be organisations that have the necessary
handled confidentially with sufficient professional and scientific resources
There are already significant projects security measures respecting their and methodologies. Surveys and
and programmes supporting the wishes and rights. Lack of legislation interviews should be carried out
utilisation of genomic data in the or clarity and conflicting interpre- at regular intervals to ensure that
Finnish healthcare. For example, the tations could limit the utilisation of the use of genetic information is in
objective of the GeneRISK Study genomic data. In order to ensure accordance with the needs, expecta-
is to analyse how the provision that the data are not used against tions and concerns of the population.
of information about one’s health the wishes of the person or with-
13DNA chips provide a rapid method
to analyze hundreds of thousands
of genetic changes simultaneously.
143. GOALS OF THE GENOME STRATEGY
Due to the rapid increase in genomic data, there is a need for a National Genome Strategy. This would enable
healthcare to pave the way for the effective use of genomic data without compromising the legal protection and
fair treatment of individuals. At the same time, we need to ensure that Finland becomes an attractive country
for top level international research and innovation utilizing genomic data. A national genome centre is needed to
implement the genome strategy, to coordinate cooperation and to ensure that the strategic goals are achieved.
NEED FOR A GENOME ical care. Researchers, for their part, wellbeing. It does not address other
STRATEGY will have entirely new opportunities significant spheres of application of
The full-scale use of genomic data in for utilizing genomic data in scientific genomics nor specific treatments.
healthcare requires thorough prepa- research. Society may benefit from The aim is to implement the strate-
ration. There is a need for a com- a containment of healthcare costs gy by 2020.
prehensive strategy to respond to and better allocation of resources.
the many challenges. These include In addition, the aim is to transform The genome strategy is aligned with
health technology assessment of ge- Finland into an internationally attrac- the Health Sector Growth Strategy
netic tests; quality assurance of the tive environment for research and for Research and Innovation Activ-
genetic tests and testing laboratories; business in the field of genomics. ities and the national eHealth and
equity in access to genetic testing eSocial Strategy. The implementa-
and counselling as well as treatment IMPROVING HEALTH tion of the genome strategy should
based on the test results; training THROUGH THE USE OF rely as far as possible on existing
of healthcare staff; data protection; GENOMIC DATA structures.
dealing with incidental findings; and The strategic vision is:
containing the costs of genetic tests A particular focus of the strategy
and personalized care. In 2020, genomic infor- is on data utilisation. The aim is
mation will be effectively used that Finland would concentrate on
STRATEGIC AIM in Finland to achieve popula- using genomic data to produce high
The aim of the strategy is to make tion health benefits”.The guid- added value. Another area of focus
Finnish healthcare more effective. ing principle of the strategy is is creating a single body, a genome
This will be achieved by providing “Improving health through the centre, for the management of
people with better and more target- use of genomic data. genomic data and to serve as a na-
ed care. Healthcare professionals will tional service point for stakeholder
gain access to more comprehensive The strategy is limited in scope to groups using genomic data.
genomic data for application in clin- the promotion of human health and
15ULTIMATE GOALS
Genomic data Individuals Finland is
are widely used are able to an attractive
in healthcare make use of research and
based on genomic data business
individual and in their own lives environment
population in genomics
needs
Use of genomic Genomics research Healthcare Information
data is governed is closely personnel have systems enable
by ethical integrated into skills to use effective use of
principles and healthcare genomic data genomic data
legislation
ENABLING GOALS
Figure 2. The goals of the genome strategy.
16STRATEGIC GOALS The ultimate goals are built on the
The genome strategy has seven foundation of the enabling goals. The
main goals, four of which are ena- actual benefits of genomic data use
bling goals and three are ultimate for individuals, Finnish healthcare and
goals (Figure 2). the society will be obtained through
the attainment of the ultimate goals.
By achieving the enabling goals,
the necessary conditions will be A national genome centre is needed
created for the full-scale use of for the implementation of the ge-
genomic data in healthcare, nome strategy. The genome centre
research and commercial activity as will develop and maintain a national
well as in people’s own lives. reference database of genomes and
The enabling goals are related to a database of genomic variants. It
ethical principles and legislation, will provide a single point of contact
the integration of genomic for research institutions and com-
research into healthcare, the ability panies needing research, contractual
of healthcare professionals to apply and commercialisation services.
genomic data, and the development
of information systems that will In the following chapters, each
enable the efficient utilisation goal and the proposed activities to
of the data. achieve them are described.
173.1 ETHICAL PRINCIPLES AND LEGISLATION GOVERN
THE RESPONSIBLE USE OF GENOMIC DATA
Advances in genomic technology raise ethical and legal issues relating to people’s privacy and the predictive na-
ture of genomic data, among other things. In order for genomic data to be used effectively in healthcare, research
and in commercial activities, the use of data related to the human genome must be safe and governed by law and
guidelines.
Genetic tests generate data on the also be given the opportunity to re- regulations will have to be taken
genetic makeup of both the individ- ceive counselling on the implications into account in the implementation
ual and his or her biological relatives. of the findings of genetic tests. of the strategy.
The data can be used to predict
disease by identifying whether the The interests and welfare of the Information systems must be de-
person has a genetic change that will individual should always have pri- veloped so that genomic data are
cause a disease or protect the per- ority when investigating the human stored and used securely. Privacy
son from it. It is important that peo- genome. Discrimination based on must be protected and misuse
ple get enough information about genetic makeup is prohibited in of information about an individu-
the significance of genomic data. many international agreements, al’s genetic makeup prevented. In
declarations and recommendations the case of data about a person’s
Because of the sensitive nature of to which Finland is committed. The entire genetic makeup, conventional
information about a person’s genetic Council of Europe’s Convention precautionary measures cannot
makeup, it is necessary to ensure on Human Rights and Biomedicine completely eliminate the possibil-
that the data are not used in a allows predictive genetic testing ity of the person being identified.
way that would harm that person for health purposes only, or for Therefore genetic data linked to an
or other people. Everyone should health-related scientific research. identifiable person and stored for
have the right to manage one’s own Thus genetic tests cannot be carried scientific research or any other pur-
genomic data. New information out, for example, for insurance poses must be held confidential.
technology solutions make it easier purposes. Finland’s criminal code
for people to monitor and use their prohibits discrimination in employ-
genomic data. This has to be en- ment on the grounds of genetic
sured through legislation. Everyone characteristics.
can decide for themselves whether
they wish to be informed about The use of genomic data involves
their genetic makeup and suscepti- the handling of sensitive personal
bility to diseases. Everyone should data. Consequently, data protection
18ACTIVITY 1 ACTIVITY 2
– Confirm the ethical principles – Prepare legal framework for
concerning the use of genomic the use of genomic data
data
The needs for revision of the legisla-
Establish a multi-disciplinary working tion are identified and the necessary
group to draw up ethical principles regulatory amendments are pre-
and working practices which respect pared.
the rights of the individual and for
the responsible use of genomic The applicable data protection regu-
data in healthcare, research and lations are mapped out, and the pur-
product development. International pose of collecting and using genomic
recommendations should be taken data, among others, is defined.
into account when drawing up the
principles. Promote the adoption of
these principles and working practic-
es through training.
193.2 GENOMICS RESEARCH
IS CLOSELY INTEGRATED INTO HEALTHCARE
The Finnish public healthcare system has broad responsibility for the citizen’s health.This has enabled to establish
large databases related to healthcare. This data together with genomic information, other public registers and
our specific population history, create exceptionally good conditions for the use of genomic data in research and
healthcare.
Valuable sample collections have international reference databases care visit, taking into account the
been put together in Finland, such but also data about the genome of individual’s informed right to decide.
as the National Institute for Health the Finnish people and its variations.
and Welfare’s population research Finns relate positively to scientific ACTIVITY 4
material that has been collected over research. As a result, the collection of – Identify the procedures and
decades. A large part of the sample samples needed to create a referen- create the conditions for using
collections is being transferred to ce database can be carried out as scientific data effectively and
wider use under the terms of the part of healthcare visits. efficiently in healthcare
Biobank Act. These collections of
samples and the possibility to com- ACTIVITY 3 Subject to authorisation, it has been
bine them with register data have – Create a national possible to use healthcare data
placed Finland, like other Nordic reference database of in scientific research that utilises
countries, in the position of being an genomes genomic data. The transfer of genomic
internationally interesting centre for data in the opposite direction, from
genome research. A national reference database scientific research to patient care
of genomes will be established. has been considerably less common.
Even on a global scale, Finland’s Genomic data produced by various However, high quality genomic data
national registers provide a rare organisations will be stored in the generated in research would be
opportunity to link collected samples database, and the linking of health useful, for example, in the selection
to long-term monitoring data. This data with genomic data will be made of certain drug treatments. In addi-
increases the value of the collections possible. In addition, the necessa- tion, procedures should be created
considerably. The goal is that in the ry links to international databases to evaluate which incidental findings
future, all patient data and national should be set up. revealed by research should be com-
register data can be combined with municated to people and how.
genomic data. Plan and implement the collection
and management of the consents The long-term goal is to use referen-
For scientific research and health required for the use of genomic data. ce databases in planning healthcare
care there is a need not only for Consent can be given during a health services and in targeting them at
20the population and individual level.
In addition, it must be ensured that
healthcare units have the right to
access data in order to promote
appropriate and cost-effective care.
The unit providing care should have
at their disposal all available, relevant
information.
213.3 HEATHCARE PROFESSIONALS HAVE
THE KNOWLEDGE AND SKILLS TO USE GENOMIC DATA
In the future, primary and specialised care providers must have knowledge of genomics and skills to apply genom-
ic information in service planning and clinical care. The need for genetics services is increasing. Fair access to
services can only be ensured through adequate training of healthcare personnel.
The education and training of Enhance genetics education by ACTIVITY 7
healthcare professionals must be mainstreaming it in the initial pro- – Assess the need for profes-
developed to ensure that the fessional education of doctors and sionals in clinical genetics
personnel has up-to-date knowled- other healthcare professionals. The
ge and skills in genomics and on goal is that during basic training the In Finnish healthcare, the genetics
the use of genetic information and student acquires adequate knowled- professionals working in the clinical
its limits. The personnel needs to ge about genetics and the use of setting are doctors specialised in
know where they can access new genetic information. genetics and genetics nurses who
information related to genomics and have been trained on the job. In
how genetic tests and information ACTIVITY 6 many countries, there is also a third
can be used in healthcare. Training in – Develop and implement a category of health professionals, ge-
the use of genomic data should be training programme for the netic counsellors, who are trained in
tailored for each professional and current healthcare workforce genetic counselling. The need for all
specialist group. Training curricula three professional groups in Finland
must be updated regularly. Develop a training programme on should be assessed and the number
genomics for the continuing pro- of trainees should be adjusted based
ACTIVITY 5 fessional development of different on identified needs. If necessary, a
– Reinforce and update genetics groups of healthcare professionals. curriculum for genetic counsellors
education in the curricula of The programme should be versatile should be introduced.
healthcare professionals and utilize online training.
223.4 FINLAND HAS INFORMATION SYSTEMS ENABLING
THE EFFECTIVE USE OF GENOMIC DATA
The extensive use of genomic data requires seamless data connections across information systems and interfaces.
Finland must develop a comprehensive IT architecture for managing genomic data.
Historically, the emphasis in the The utilisation of genomic data to international standards. This will
development of information systems should not be seen simply as an ensure that genomic data produced
in the health sector has been on information technology project, but in Finland are internationally com-
the collection and local utilisation of as part of the development of an parable.
data within organisations. As a result, ecosystem for public and private
data transfer between organisations services. In the future, various kinds The efficient use of genomic data
is not seamless at the moment. of services and applications can will bring significant benefits to heal-
The national eHealth and eSocial be built around genomic data. For thcare and research. The greatest
Strategy shifts the emphasis of de- example, there will be a need for benefit is gained when genomic data
velopment work from collecting and more genomic data interpretation are combined with other healthca-
transferring data to ways of using services. Even if an individual’s re and wellbeing information such
data efficiently in the promotion of genome does not change, it will be as clinical patient data as well as
personal wellbeing, in the clinical set- interpreted several times either as information about lifestyle and en-
ting and in healthcare management. a whole or in part as understanding vironment. Existing solutions will be
The objective is also to use the data of the influence of genomic data heavily relied on for the collection,
to support research, innovation and increases. Interpretation of this data storage, combining and utilizing the
commercial activities. requires a broad base of compari- data. In addition, a service operator
son material (reference and variati- enabling the efficient use of data is
The special features of genomic on databases). being planned. It will play an impor-
data are the large size of storage tant role in the processing of data
required, the need for a national The informatics requirements for for scientific and other purposes
reference database and the wide the use of genomic data should be (Figure 3).
range of applications of genomic taken into account in the deve-
data in different areas and levels lopment of national IT solutions There are several electronic ser-
of healthcare. For the utilization of in order to avoid creating double vices in Finland that people are
genomic data it is important that the structures. familiar with and value. These could
information technology solutions are be used more widely in healthcare.
implemented using open and secure In addition to national solutions, it New information needs should be
interfaces. is extremely important to adhere kept in mind when developing data
23DATA UTILISATION
Centres of
Excellence Other
Healthcare Research (e.g.genome organisations
centre) Individual
DATA PROCESSING SERVICE OPERATOR
CENTRALISED DATA STORAGE
Kanta
- National Health Data Repository
Clinical data
repository
My Kanta Genome
Pages database
GENERATION, COLLECTION AND LOCAL STORAGE OF DATA
Other National
data Biobank
healthcare
Patient sources Patient Biobank registers
data system data system
Figure 3. High-level design of the architecture for the generation, storage,
processing and utilisation of genomic data.
24management systems. For instance, capitalise on the results of other is to decide on a common data
in the future information about an ongoing Finnish projects that are storage format. This will ensure that
individual’s genetic makeup could be related to the genome strategy the data are stored in a structured
included in decision support tools such as the Finnish Innovation Fund manner and that data generated
and other self-treatment services Sitra’s service operator project and using different definitions can be
used by individuals. People must research projects coordinated by utilized in a reliable way.
have the right to manage, prevent or the Institute for Molecular Medicine
limit the utilisation of their genomic Finland (FIMM), the Finnish Funding The building of a comprehensive
and health data. On the other hand, Agency for Innovation (Tekes) and structure will also include developing
there must also be a possibility to SalWe Ltd. national guidelines on data security
provide, subject to the individual’s and protection as well as on the ma-
consent, anonymous data to com- ACTIVITY 8 nagement of consents and refusals.
mercial operators, for example to – Develop an IT architecture There will also be a public platform
be utilized in the development of for genomic data for the storage and utilisation of
new medicines. genomic data where people can ma-
Define the aims for utilizing genomic nage and control their own health
This component of the genome data, especially with regard to ope- information in order to promote
strategy focussing on information rational needs. Identify the national their personal wellbeing.
technology will be implemented and international standards and
jointly with the national eHealth conceptual models to be followed
and eSocial Strategy. During imple- in storing, transferring and utilizing
mentation, the genome strategy will genomic data. One of the first tasks
253.5 GENOMIC DATA ARE WIDELY USED IN HEALTHCARE
BASED ON INDIVIDUAL AND POPULATION NEEDS
The use of genomic data can improve diagnosis and enhance the targeting of treatment. With genetic risk profil-
ing, screening can be focussed more precisely on susceptible subgroups of the population. The efficient utilisation
of genomic data must be equally available to the entire population. In addition, empowering people to use their
own genetic information as an aid in health planning will contribute to the prevention of diseases and enable
many to live a healthier life.
ACTIVITY 9 of inherited diseases and high-risk ACTIVITY 11
– Ensure that sufficient genetic susceptibility in situations where the – Promote the use of genetic
testing is performed on pa- test results have relevance to several risk profiling in the prevention
tients to determine the cause family members. of diseases
of diseases, and that test results
also benefit family members ACTIVITY 10 As genomic data becomes more
and other relatives – Develop a procedure for precise, it will be possible to identify
the systematic evaluation and susceptibility to disease better. That
Genetic tests for inherited diseases adoption of genetic tests opens up new possibilities for the
and high-risk susceptibility will be- prevention of diseases. Guidelines
come increasingly important. In the As genomic data changes, it is and a databank will be created
future, decisions regarding treatment impossible for every healthcare for service providers and health
and monitoring will be based to a professional to monitor the changing care professionals. It will be easy
greater extent on information on field in sufficient detail and apply to retrieve information about gene
the location of mutations in genes their professional skills. That is why a research from the databank as well
and the type of mutations. Identifi- body is needed to prepare and mo- as information on how to make de-
cation of family-specific mutations nitor the effectiveness and efficiency cision based on the results and how
is essential for identifying risk of of genetic tests used in Finland’s the results can be used in practical
disease or for ruling it out in family healthcare system. The guidelines work. Risk profile-based prevention
members and relatives. It will also must take into account internatio- could be based on medical treat-
result in a more efficient allocation nal recommendations, international ment and changes to lifestyle, and
of resources. It is important to developments in the field and the to be successful there would also
ensure equitable access to genetic availability of services, particularly be a need for support services for
testing in the Finnish healthcare in other EU countries. This expert individuals.
system. Genetic tests are particu- role would be a natural fit for the
larly valuable in the investigation national genome centre.
26Practical applications of Practical applications of genomic data
genomic data
From cardiovascular disease risk assessment to prevention
Genetic information helps using genomic data
prevent sudden death
Several thousand Finns unknowingly suffer from familial hypercholesterolaemia where
A 56-year-old woman developed sudden
cholesterol levels are very high due to an inherited genetic defect. Without treatment
chest pain which was found to be caused
their risk of cardiovascular disease is several times higher than in the average popu-
by a rupture of the ascending aorta. She
lation. Their increased susceptibility could be easily detected with a genetic test and
survived after an emergency operation.
taken into account in lifestyle choices and medication from early childhood.
Further examination of the family revealed
that the risk of rupture of the aorta was
The common variation in the genome of the population influences our risk to develop
inherited in a dominant pattern, and the
cardiovascular disease. Half of the difference in individual risk can be explained by
underlying genetic defect was identified.
inherited characteristics. Compared to the average Finn, almost a million Finns carry
changes in their genome that double the risk of heart disease.
All those at risk need to be monitored.
During genetic counselling, genetic testing
In health promotion and prevention of cardiovascular events, there is a need for data
was performed on the patient’s four
on changes in the genome and their significance as well as for guidelines on how to
siblings. One of the siblings had the genetic
apply genomic data in healthcare. The use of genomic data can reduce morbidity and
defect, and therefore genetic counselling
mortality and lead to more cost-effective healthcare.
and testing of the children was necessary.
The genetic defect was also identified
in the patient’s son who already had an
enlarged aortic root. An elective operation
was carried out thus avoiding the risk
of sudden death from a rupture of the
aorta. Since three siblings did not have the
genetic defect, they and their children did
not need any follow-up.
27ACTIVITY 12 ACTIVITY 13
Practical applications of
genomic data – Provide healthcare – Analyse the costs and benefits
professionals with a clinical of making use of genomic data
Genetic test enables targeted decision-making support tool
treatment of cancer based on genomic data Even though many kinds of gene-
Genetic changes in cancerous lesions guide tic tests are possible, the use of all
the development of cancer. Identification Risk profiles for diseases are of them is not necessarily cost-
of these changes enables the targeted
generated from a large number, effective. On the other hand, it is
treatment of cancer.
usually several tens, of variations possible to concentrate on effective
in genetic makeup which are treatments on the basis of gene-
In the example case, the patient had can-
cer of the colon removed by surgery, and combined with other information tic tests and to avoid the costs of
he underwent chemotherapy because the about the patient. This is possible ineffective or harmful treatments.
cancer had spread to lymph nodes. After with electronic decision-making Not all tests are associated with
one year the patient was found with liver support. These kinds of informa- possibilities for interventions that
metastases which could not be surgically tion technology solutions have to promote health or prevent diseases
removed due to their size and number. be developed as tools to support either. The cost-effectiveness of the
healthcare professionals. The most use of genomic data will have to
In tests for KRAS and NRAS oncogenes, effective solutions will be disco be assessed at a national level and
no mutations were found in the cancerous vered through pilot studies. monitored as part of the operations
tissue, and targeted antibody treatment
of the genome centre.
against EGFR was started. The response
to treatment was positive and the patient
was operated to remove the liver metasta-
ses. There was no recurrence of the cancer
during follow-up. If a mutation would
have been found in the KRAS or NRAS
oncogenes, the treatment would have been
ineffective or even harmful.
283.6 INDIVIDUALS ARE ABLE TO
MAKE USE OF GENOMIC DATA IN THEIR OWN LIVES
Currently genomic data is mainly used to diagnose diseases and to guide the selection of treatment. In the future,
genetic risk profiling will be increasingly available as a preventive intervention or as part of a personal health plan.
This opportunity together with the necessary support services must be equally available to all.
More and more Finns are interest- Legislation must be developed so aimed at consumers. The use of ser-
ed in maintaining and promoting that people have the right to use vices must always be voluntary and
their health through lifestyle choices. their genetic information and decide based on the individual’s desire to
Information about individual genetic on how it is used through consent know. Resources should be directed
makeups will be critical in the future management. The individual should towards solutions that promote the
when we assess lifestyle risks and also have the opportunity to acquire nation’s health. These kinds of appli-
make lifestyle choices. Healthcare information about their genetic cations are particularly associated
needs common guidelines on the use makeup and on the other hand, the with disease risk profiling, evalua-
of genome-wide tests. At the same right to share it with others. tion of the suitability of drugs and
time we must consider the availability the prevention of disease through
of such tests from the perspective of ACTIVITY 14 lifestyles that promote health.
those who want to know about their – Provide guidelines for people
own genomic data. The provision of on services related to genetic It should be ensured that people
services must not lead to unequal testing receive up-to-date and reliable infor-
treatment of patients. mation about using genomic data in
A clear health service pathway and promoting their own health.
In Finland, genome-wide tests have guidelines have to be developed for
not been availave to consumers. people on what types of genet- ACTIVITY 15
Some Finns have bought these ic or genomic tests are available – Provide individuals with
services via the Internet from and where. The pathway will also access to genomic data tools
companies based abroad. In such indicate which organisations offer
cases, data about individuals’ genetic interpretation of results, what tests Provide people with general guide-
makeup cannot be used in domestic can reveal and what advice related lines on the use of genomic data
research or in the development of to the results is provided to sup- in promoting health and create
new services even after it has been port health planning. People must related services to support decision
anonymised. The data are also not also be given reliable comparative making. Create a genome portal
stored as part of the Finnish genom- data about services provided by which would provide the public with
ic database. the private and third sector that are information about genetics as well
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