Personalised medicine : conference 2016.
Date: 2016-11-03
Institutions: Directorate-General for Research and Innovation
Subjects: conference proceedings, disease prevention, health care, health policy, illness, innovation, medical research, medicine, public health, report, research and development, right to health

Personalised Medicine 
Conference 2016 

Report

 
 
 
 
 
 
 
 
 
EUROPEAN COMMISSION 

Directorate-General for Research and Innovation 
Directorate E — Health Research 
Unit E.2. — Innovative and Personalised Medicine 
Contact: RTD-IC-PERMED@ec.europa.eu 

E-mail:  RTD-PUBLICATIONS@ec.europa.eu 

European Commission 
B-1049 Brussels 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
EUROPEAN COMMISSION 

Personalised Medicine 
Conference 2016 

Report 

Edited by Victoria English, conference rapporteur 

2016 

Directorate-General for Research and Innovation 
Horizon 2020 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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LEGAL NOTICE 

The views expressed in this publication are the sole responsibility of the author and do not necessarily reflect 
the views of the European Commission. Neither the European Commission nor any person acting on behalf of 
the Commission is responsible for the use which might be made of the information contained therein. 

More information on the European Union is available on the internet (http://europa.eu). 

Luxembourg: Publications Office of the European Union, 2016. 

PDF  

ISBN 978-92-79-59851-7 

doi: 10.2777/38084  KI-02-16-703-EN-N 

© European Union, 2016. 
Reproduction is authorised provided the source is acknowledged. 

Cover images: © Lonely, # 46246900, 2011. © ag visuell #16440826, 2011. © Sean Gladwell #6018533, 
2011. © LwRedStorm, #3348265. 2011. © kras99, #43746830, 2012. Source: Fotolia.com 
Internal document image page 4: © European Commission, 2016. Source European Commission 

3 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Contents 

EXECUTIVE SUMMARY...................................................................................................5 

INTRODUCTION .......................................................................................................... 7 

KEYNOTE SESSION ...................................................................................................... 9 

CHALLENGE 1: DEVELOPING AWARENESS AND EMPOWERMENT ...................................... 10 

CHALLENGE 2: INTEGRATING BIG DATA AND ICT SOLUTIONS ......................................... 12 

CHALLENGE 3: TRANSLATING BASIC TO CLINICAL RESEARCH AND BEYOND ..................... 14 

CHALLENGE 4: BRINGING INNOVATION TO THE MARKET ................................................ 16 

CHALLENGE 5: SHAPING SUSTAINABLE HEALTHCARE .................................................... 17 

FORWARD-LOOK SESSION ......................................................................................... 18 

CONCLUSION AND SUMMARY OF ACTIONABLE POINTS ................................................... 20 

CHALLENGE 1: DEVELOPING AWARENESS AND EMPOWERMENT ...................................... 20 

CHALLENGE 2: INTEGRATING BIG DATA AND ICT SOLUTIONS ......................................... 20 

CHALLENGE 3: TRANSLATING BASIC TO CLINICAL RESEARCH AND BEYOND ..................... 21 

CHALLENGE 4: BRINGING INNOVATION TO THE MARKET ................................................ 21 

CHALLENGE 5: SHAPING SUSTAINABLE HEALTHCARE .................................................... 21 

 
 
 
 
 
 
 
 
 
 
EXECUTIVE SUMMARY 

The  goal  of  personalised  medicine  is  to  put  the  citizen  at  the  centre  of  healthcare.  It  is  a  new 
paradigm in medicine based on the smart use of technology, coupled with greater participation by 
patients  in  the  management  of  their  own  health,  to  help  prevent  disease  and  promote  healthy 
living.  When  diseases  can  be  prevented  and  not  only  treated,  the  cost  of  healthcare  will  come 
down, creating a virtuous circle for health policy. The Personalised Medicine conference addressed 
the  broader  policy  perspective  and  challenges  by  showcasing  integrated  healthcare  models  in 
Member  States  and  business  approaches  which  involve  patients  more  directly  in  their  healthcare. 
The meeting was organised around five challenges.  

Challenge 1. Developing awareness and empowerment.   

Two  cancer  survivors  outlined  what  today’s  patients  want  from  policymakers.  This  can  be 
summarised in one sentence: to be involved in decision-making affecting their own healthcare. This 
means  involving  patients  in  the  formulation  of  treatment  guidelines  and  protocols,  the  design  of 
clinical trials and medicine reimbursement. Medicine will increasingly be powered by patient data. 
Therefore  it  is  critical  that  systems  are  in  place  for  obtaining  patient  consent,  and  patient 
participation in decision-making about the use of those data. 

Challenge 2. Integrating big data and ICT solutions.  

Making  technology  work  for  patients.  This  concept  was  illustrated  by  IBM’s  Watson  Health  unit 
which  has  developed  artificial  intelligence  with  algorithms  that  analyse  databases  to  help  doctors 
with diagnosis. Furthermore it was explained how Scotland uses information technology to predict 
and  manage  disease  on  a  population  level  within  the  Scottish  National  Health  Service.  Another 
example  was  presented  from  Estonia,  which  has  organised  its  entire  health  system  around 
electronic registries. These enable patients, doctors and other healthcare professionals to conduct 
transactions  such  as  ordering  prescriptions,  while  also  supporting  basic  research.  A  challenge  for 
policymakers is to ensure that the system for obtaining patient consent is robust and the purpose 
for which it will be used  is transparent. A related issue is managing new data sources effectively. 
Some  doubt  was  aired  about  whether  practitioners  currently  have  all  the  analytical  tools  and 
standards  in  place  to  do  this.  It  was  suggested  that  EU  Member  States  establish  their  own 
institutes  for  biomedical  data  and  informatics  which  could  then  be  joined  up  at  EU  level.  The 
challenge is to standardise and validate these systems without losing sight of the purpose for which 
they were intended – to improve patient care.  

Challenge 3. Translating basic to clinical research and beyond.  

The discussion about information technology was taken further by illustrating how new sequencing 
technologies can be used to identify gene mutations, which in turn become targets for developing 
novel  therapies.  Genomic  and  phenotypic  data  can  be  combined  with  epidemiological  data  to 
design  disease  prevention  campaigns.  The  North  Karelia  Project  in  Finland  succeeded  in  reducing 
mortality  rates  from  chronic  heart  disease  by  means  of  a  sustained  campaign.  Good  results  were 
also achieved in the clinical arena by researchers in Belgium by identifying a mutation present in a 
subgroup  of  cancer  patients  and  repositioning  a  marketed  drug  for  those  patients.  In  stratified 
clinical trials, patients are selected based on the likelihood of their response to a new treatment. All 
three examples illustrate the need for practitioners to work with well-defined targets, monitor the 
results  carefully,  and  be  prepared  for  the  unexpected.  A  challenge  for  policymakers  is  to  have  a 
system in place for validating biomarkers for use in trials and public health campaigns. Currently, 
different companies produce different biomarkers for the same indications. These efforts need to be 
consolidated. 

Challenge 4. Bringing innovation to the market.  

This  discussion  focused  on  incentives  for  bringing  personalised  medicine  to  the  market.  Each 
personalised medicine approach or drug will be developed for a relatively small patient population. 
Companies  need  incentives  to  undertake  this  work,  which  will  not  be  as  remunerative  as 
developing  drugs  for  a  large  market.  Options  discussed  included  a  risk-sharing  agreement  under 
which  the  public  authority  would  guarantee  a  market  share  in  exchange  for  an  agreement  to 
undertake the risk of drug development. It was also suggested that in order to ease market entry 
for new products, gaps in the regulatory system could be closed. This would require bringing health 
technology  officials  into  talks  with  pharmaceutical  regulators,  so  that  prospective  new  drugs  and 
approaches were given the best chance of market access, as is already practised by the European 

5 

 
 
 
Medicines  Agency.  Finally,  speakers  referred  to  certain  aspects  of  EU  policy  on  orphan  drug 
development which might be adapted to personalised medicine products. The orphan drug policy is 
seen as a huge success, as it combines industry incentives with clearly defined patient populations 
and  encourages  patient  participation  in  the  drug  development  process.  Any  adaptation  of  this 
policy  to  personalised  medicine  would  require  guarantees  to  contain  prices  and  avoid  stifling 
innovation. 

Challenge 5. Shaping sustainable healthcare.  

To be sustainable,  any  strategy  for  personalised medicine needs to enjoy  broad support  from  the 
population.  This  starts  with  having  sound  policies  on  informed  consent  and  the  use  of  personal 
data.  It  continues  with  the  building  of  electronic  patient  records,  registries  and  biobanks,  all  of 
which  need  to  be  integrated  into  a  system  that  has  practical  benefits  for  people.  The  benefits 
include information on disease prevention and treatment and the importance of a healthy lifestyle. 
If  the  system  is  synchronised  and  enjoys  public  support,  there  are  massive  opportunities  for 
improving public health and bringing the cost of healthcare down. 

6 

 
  
 
 
INTRODUCTION 

The  following  report  is  a  summary  of  the  discussions  and  presentations  which  took  place  at  the 
Personalised  Medicine  Conference  2016  on  1-2  June  in  Brussels.  The  presentations  and  a  video 
recording of the proceedings can be viewed online  at: www.ec.europa.eu/permed2016. The views 
and opinions expressed in this report are not necessarily those of the European Commission. The 
summary of the presentations and interventions of the speakers should be checked against actual 
delivery.  

Personalised  medicine  is  an  approach  to  healthcare  that  puts  the  citizen  in  the  centre.  By 
developing tailor-made diagnostic, treatment and prevention strategies, patients receive therapies 
that specifically work for them. It also allows people to participate in the management of their own 
health by having access to information about the prevention and treatment of disease. There is no 
universally  accepted  definition  of  personalised  medicine  and  the  concept  is  evolving  with  the 
advance of technology. A definition which is gaining acceptance in Europe was however presented 
(see keynote session).   

Already  in  2011,  a  European  Commission  conference  on  the  subject  highlighted  the  role  of 
molecular diagnostics in helping healthcare professionals identify which patients were most likely to 
respond  to  specific  interventions.  New  diagnostic  technology  was  making  it  possible  to  match 
patients  with  the  most  appropriate  treatments.  Since  then  diagnostics  have  become  more 
sophisticated,  and  a  revolution  in  information  technology  has  made  it  possible  for  researchers  to 
collect, store and analyse ever-larger quantities of data that are relevant to patient care.  

On 1-2 June 2016, the European Commission held a second conference on personalised medicine, 
this time to discuss a broader policy perspective. This is to create a new ecosystem in the EU that 
would  bring  together  research  institutions,  patients,  healthcare  practitioners  and  governments  to 
use  today’s  vast  data  resources  to  foster  the  well-being  of  its  citizens  by  preventing  disease,  or 
when disease does strike, to manage it better. It is clear that personalised medicine requires a new 
mindset. Putting the patient at the center of healthcare will require innovation in the way medicines 
are developed and healthcare systems are structured to deliver care. Under this new paradigm, the 
patient ceases to be the subject of research or treatment and instead becomes an active partner. 
This  will  require  a  big  adjustment  amongst  all  participants  in  the  healthcare  system.  But  the 
potential rewards can be significant: better healthcare at more affordable prices. 

The conference was organised around five challenges:  

  Developing awareness and empowerment;  

 

Integrating Big Data and ICT solutions;  

  Translating basic to clinical research and beyond;  

  Bringing innovation to the market;   

  Shaping sustainable healthcare.  

These  challenges  have  been  developed  and  discussed  in  the  report  Shaping  Europe’s  Vision  for 
Personalised  Medicine  of  the  EU  funded  project  PerMed  (www.permed2020.eu)  and  published  in 
June 2015. Recommendations from this report, together with conclusions from the conference, will 
form  the  basis  of  a  new  initiative  to  be  called  the  International  Consortium  for  Personalised 
Medicine or IC PerMed1. 

Together  the  member  organisations  of  IC  PerMed,  which  currently  include  more  than  20  funding 
bodies from the EU member states and beyond, will work to: 

  Establish Europe as a global leader in personalised medicine research; 

  Support the personalised medicine science base through a coordinated approach to research; 

  Provide evidence to demonstrate the benefit of personalised medicine to citizens and healthcare 

systems;  

  Pave the way for personalised medicine approaches for citizens. 

1See the information sheet "Towards an International Consortium for personal Medicine" on: 
https://ec.europa.eu/research/conferences/2016/permed2016/pdf/towards_ic_permed.pdf 

7 

 
 
                                                 
Members  of  the  consortium  will  be  public  and  private  not-for  profit  health  research  funding  and 
policymaking  organisations.  They  will  use  their  own  funding  rules  and  policy  processes  to 
contribute to the overall goals of the consortium. IC PerMed will be formally launched in November  
2016.  Until  then,  IC  PerMed  is  being  run  on  an  ad-interim  basis  by  an  executive  committee  and 
groups  representing  the  five  challenges.  The  executive  committee  is  currently  chaired  by  the 
Commission.  

IC  PerMed  will  develop  a  roadmap  with  recommendations  for  action  organised  around  the  five 
challenges mentioned above. The first version of the roadmap will be published at the end of 2016. 
The  document  will  be  updated  at  regular  intervals  thereafter.  The  IC  PerMed  members  will  work 
together to implement the actions.  

The  work  around  the  five  challenges  is  led  by  Challenge  Facilitators  from  the  IC  PerMed  member 
organisations. These facilitators will oversee the implementation of the roadmap. They also helped 
organise the conference and chaired the thematic sessions. The table below shows the names and 
organisations of the Challenge Facilitators. 

Challenge 

Challenge Facilitators 

Developing awareness and 
empowerment 

Maria Judith Molnar,  Semmelweis University, on 
behalf of the Health Ministry, Hungary 

Integrating Big Data and ICT 
solutions 

Wolfgang Ballensiefen, Project Management 
Agency DLR-PT, on behalf of the Education and 
Research Ministry, Germany 

Translating basic to clinical research 
and beyond 

Hemma Bauer, Science, Research and Economy 
Ministry, Austria 
Natalia Martin & Daria Julkowska, National 
Research Agency, France 

Bringing innovation to the market 

Peter Høngaard Andersen, Innovation Fund 
Denmark 

Shaping sustainable healthcare 

Gaetano Guglielmi, Health Ministry, Italy 

8 

 
 
 
 
 
KEYNOTE SESSION 

Carlos Moedas, EU Commissioner for Research, Science and Innovation, opened the meeting with a 
video  message  saying  that  personalised  medicine  is  an  area  where  the  Commission  can  make  a 
real difference. He outlined how this approach puts the patient front and centre and has started to 
gain  traction with targeted  therapies in  areas such as cancer,  while acknowledging that there are 
challenges ahead, which is why the Commission wants to set up IC PerMed. As highlighted by the 
Commissioner, the focus of this consortium will be to make Europe a global leader in personalised 
medicine, define the research challenges and develop the science and drive innovation. 

Ruxandra  Draghia-Akli,  Director  of  the  Health  Directorate,  Directorate-General  for  Research  and 
Innovation,  gave  an  overview  of  the  subject.  There  is  no  universally  accepted  definition  of 
personalised medicine.  While there are  other  ways  to describe  patient-centric healthcare,  such as 
stratified  medicine  and  precision  medicine,  the  Commission  has  elected  to  use  the  term 
personalised medicine. The definition, which is the basis for IC PerMed is the same as that used in 
the  Council  of  the  European  Union  conclusions  on  personalised  medicine  for  patients  (2015/C 
421/03)  and  the  Horizon  2020  work  programme  for  Societal  Challenge  1:  Health,  demographic 
change and well-being2. 

According  to  this  definition,  personalised  medicine  “…refers  to  a  medical  model  using 
characterisation of individuals’ phenotypes and genotypes (eg molecular profiling, medical imaging, 
lifestyle  data)  for  tailoring  the  right  therapeutic  strategy  for  the  right  person  at  the  right  time, 
and/or  to  determine  the  predisposition  to  disease  and/or  to  deliver  timely  and  targeted 
prevention.”  

The  idea  is  to  use  multiple  information  sources  to  make  healthcare  smarter  with  a  greater 
emphasis on disease prevention and prediction. This means shifting the focus from treating disease 
to managing health. The Commission was an early mover in the field, already in 2011 it looked at 
the role of the ‘omics’ disciplines in helping understand the causes of disease. The goal now is to 
support  the  personalised  medicine  science  base  through  a  coordinated  approach  to  research  and 
innovation,  together  with  the  IC  PerMed  members  and  the  involved  member  states,  and  to  show 
the benefits of this approach to citizens and healthcare systems. 

IC  PerMed  is  based  on  a  series  of  challenges,  which  in  turn  will  be  translated  into  a  roadmap, 
expected to be available in the fourth quarter of 2016, for implementing policy at an EU, national 
and regional level.  

Robert-Jan  Smits,  Director-General  for  Research  and  Innovation,  said  that  personalised  medicine 
goes  beyond  the  scope  of  pharmaceuticals  to  include  other  industries.  It  promises  to  make 
healthcare  smarter  and  proactive  and  it  is  in  line  with  the  Commission’s  priorities  of  supporting 
cutting  edge  research,  driving  innovation  and  creating  new  markets  and  jobs.  The  launch  of  IC 
PerMed  is  being  undertaken  with  the  cooperation  of  research  funding  and  policy  making 
organisations  in  EU  member  states  and  beyond.  It  has  been  inspired  by  other  international 
consortia,  for  example  in  the  fields  of  epigenetics  and  rare  diseases:  the  International  Rare 
Diseases  Research  Consortium  (IRDiRC)  and  the  International  Human  Epigenome  Consortium 
(IHEC)  (www.irdirc.org  and  http://ihec-epigenomes.org)  respectively.  IC  PerMed  is  a  coordinated 
approach to research and innovation. It will rely on the ability of participants to integrate data from 
multiple  sources  and  use  this  information  to  improve  health  without  affecting  patient 
confidentiality. 

Xavier  Prats  Monné,  Director-General  for  Health  and  Food  Safety,  spoke  about  the  future  of  EU 
healthcare  systems.  He  noted  that  inequalities  still  exist  within  healthcare  systems  at  a  national 
level.  Personalised  medicine  is  an  opportunity  to  look  at  new  ways  of  delivering  healthcare, 
assessing  healthcare  technologies  and  monitoring  regulatory  systems  to  make  sure  that  they  are 
keeping up with innovation.  It is an approach to  healthcare that presents an  opportunity  to bring 
people together to work on big issues of common interest. 

Lowri Evans, Director-General for  the Internal  Market,  Industry,  Entrepreneurship and SMEs,  said 
that personalised medicine is a route towards improving the competitiveness of European industry. 
There are opportunities for industry to develop new business models based on the widespread use 
of  digital  technologies.  Personalised  medicine  also  goes  hand-in-hand  with  the  development  of 

2 The Council conclusions on personalised medicine for patients can be consulted on the web page: http://eur-
lex.europa.eu/legalcontent/ EN/TXT/?uri=uriserv:OJ.C_.2015.421.01.0002.01.ENG&toc=OJ:C:2015:421:FULL 

9 

 
 
                                                 
companion  diagnostics.  The  new  Regulation  on  IVD  medical  devices  is  expected  to  strengthen 
oversight of  companion  diagnostics by  increasing transparency  and the powers of  notified bodies, 
which  certify  these  products.  While  the  regulatory  aspects  of  some  of  the  new  technologies  are 
being  addressed,  there  remains  the  issue  of  the  cost  of  personalised  medicine.  While  healthcare 
resource allocation takes place at a national level, there is an opportunity for IC PerMed to bring all 
the actors together to support them with the best available information. 

Roberto Viola, Director-General for Communications Networks, Content and Technology, addressed 
the issue of data. Without data, there can be no personalisation of medicine. Yet Europe could be 
stronger when it comes to super-computing and data storage. The EU market is the largest in the 
world,  and  therefore  should  be  fully  equipped  to  navigate  the  digital  economy.  For  example, 
computing power needs to be increased, with the possibility of creating a European science cloud. 
The Directorate-General for Communications Networks, Content and Technology plays various roles 
in  the  personalised  medicine  initiative;  considering  activities  in  e-Health,  Big  data  and  High 
Performance  Computing.  The  regulatory  aspects  are  equally  important:  such  as  data  flows, 
cybersecurity and data exchanges. 

Paulo  Lisboa,  Professor  and  Head  of  Department  of  Applied  Mathematics  at  the  John  Moores 
University  in  Liverpool,  UK  talked  about  the  challenge  of  shifting  from  a  disease-oriented 
healthcare  system  to  one  focused  on  well-being.  Using  breast  cancer  as  an  example,  he  said 
molecular  analysis  has  shown  that  there  is  not  one,  but  several  types  of  the  disease.  In  addition 
there  are  similarities  between  breast  and  prostate  cancers.  The  pharmaceutical  industry  is  now 
developing  medicines  against  these  targets.  Yet  will  these  new  treatments  help  a  woman  with 
cancer  who  also  lives  in  a  deprived  area  and  may  also  be  suffering  from  obesity  and  diabetes? 
Personalised  medicine  may  be  a  way  of  closing  the  gap  between  clinical  medicine  and  the  other 
aspects  of  real  life  that  affect  human  health.  These  differences  can  be  captured  in  data,  but 
patients  must  consent  to  provide  this  data.  The  level  of  consent  required  for  advancing 
personalised  medicine  is  not  trivial.  Another  question  is  whether  it  will  be  possible  to  produce  a 
better  quality  of  care  at  a  reduced  cost.  This  will  require  a  shift  from  a  system  that  reacts  to 
disease  to  one  that  seeks  to  prevent  disease.  To  accomplish  this,  patients  will  need  to  agree  to 
manage  their  own  health.  Patient-reported  outcome  statistics  will  make  it  possible  to  establish 
which interventions are necessary and which are not.  

Anders Olauson, Honorary President of the European Patients’ Forum, ended the session with a call 
for  patient empowerment.  This entails giving patients access to information that will enable them 
to  work  with  doctors  in  the  management  of  their  own  healthcare.  Patient  input  will  also  be 
necessary in assessing the value of new therapies. 

CHALLENGE 1:                                                                       
DEVELOPING AWARENESS AND EMPOWERMENT 

This session was devoted to a discussion of the patient’s view of personalised medicine. Maria Judit 
Molnar,  Professor  at  Semmelweis  University  in  Hungary  and  Challenge  Facilitator  for  IC  PerMed 
Challenge 1, opened the meeting with a summary of the key aspects. Personalised medicine puts 
the patient at the  centre  of  healthcare decision-making. She illustrated this with  an  example of  a 
woman whose aunt had a gene mutation which was predictive of cancer. After genetic counselling, 
the  woman  asked  to  be  tested  and  discovered  that  she  too  was  positive  and  had  a  risk  of 
developing cancer. She began to educate herself with books and on the internet. Knowledge about 
the  genome  and  patient  literacy  empowered  her.  This  points  to  a  new  model  for  care  where  the 
patient is engaged in researching aspects of his or her own health. 

Diagnosed  with  lymphoma  in  2005,  Peter  Kapitein  is  a  founder  of  the  patient  advocacy  group 
Inspire2Live.  Based  in  the  Netherlands,  Inspire2Live  has  about  34  members  who  are  living  with 
cancer.  They  meet  with  clinicians,  scientists  and  business  people  to  identify  parts  of  the  cancer 
healthcare  system  that  could  be  improved.  The  group  supports  a  fundraising  event  each  year 
where cyclists bike up and down Alpe d’Huez in the French Alps six times in one day. Mr Kapitein 
had  four  pieces  of  advice  for  the  meeting.  They  are:  engage  people  with  different  perspectives; 
search for the root cause of a problem; think on a big scale, and remain independent.  

Rudi  Westendorp  of  the  Center  for  Healthy  Aging,  University  of  Copenhagen,  spoke  about  the 
relevance  of  personalised  medicine  to  ageing.  Prof  Westendorp  is  author  of  the  book,  Growing 
Older Without Feeling Old: on Vitality and Ageing. He said that elderly citizens are concerned about 
disease  but  also  about  the  quality  of  their  lives.  This  will  require  a  new  focus  on  research  to 

10 

 
 
 
promote  healthy  ageing.  However  the  health  and  social  care  services  for  elderly  citizens  are 
fragmented.  One  tool  for  “helping  people  help  themselves”  is  a  data  cooperative  called  MIDATA. 
Developed  by  Switzerland-based  researchers,  MIDATA  enables  citizens  to  securely  store  and 
manage personal healthcare data. Members of the cooperative can decide to share their data with 
doctors  or  participate  in  medical  research.  Another  collaboration,  dating  from  2008,  is  the  large 
healthcare  initiative  EIT  Health  which addresses  healthy  living  and  active  ageing.  EIT  Health  gets 
support from the European Institute of Innovation and Technology (EIT) which is an integral part of 
Horizon  2020.  EIT  Health  is  a  consortium  of  businesses,  research  centres  and  universities  which 
work together to promote active ageing and healthy living. This is one initiative to bring healthcare 
companies together to help the end-user, Prof Westendorp said.   

Jan  Geissler,  Director  of  the  European  Patients’  Academy  on  Therapeutic  Innovation,  told  the 
meeting  that  patients  need  to  be  involved  early  in  the  clinical  development  of  new  medicines.  A 
cancer  patient  for  15  years,  Mr  Geissler  has  many  advocacy  roles  including  as  a  co-founder  of  a 
global network of leukaemia patients. He said patients should be involved in the design of clinical 
studies,  not  just  the  final  stages  of  these  trials.  The  HIV  advocates  also  helped  set  research 
priorities  and  the  design  of  protocols  for  new  trials.  The  European  Medicines  Agency  has  set  an 
example  by  involving  patients  in  some  of  their  committees.  But  more  could  be  done  in  the  EU 
member states, he said. 

Panos  Kanavos  of  the  London  School  of  Economics  said  that  more  needs  to  be  done  to  involve 
patients in health technology assessments (HTA). HTA analyses look at the scientific rationale and 
evidence but they don’t have appropriate metrics for making social value judgements. These social 
values  include  what  interventions  are  appropriate  for  patients  at  the  end  of  their  lives.  Only 
patients  and  their  carers  know  exactly  how  a  disease  impacts  them  personally  and  how  specific 
treatments  can  affect  their  life  quality.  He  cited  a  survey  of  patients  that  sought  to  discover 
whether there were important aspects of their illnesses which had not been captured by a research 
tool  called  EQ-5D-5L.  Fifty-one  percent  of  respondents  said  ‘yes.’  Some  of  the  problems  that 
weren’t  being  captured  related  to  family  relationships  and  finance.  Dr  Kanavos  said  current  HTA 
gives priority to general population values such as patient mobility. But in fact patients themselves 
may be more concerned about pain, anxiety and depression than mobility. Health economists need 
to revisit the methods for capturing patient values in HTA. 

Panel discussion 

In the discussion that followed, speakers said that patients have too long been viewed as subjects 
of research rather than active partners. György Németh of Gedeon Richter Plc captured the mood 
when he said that if patient engagement were a drug it would be the “blockbuster of the century.” 
This engagement starts with defining the research question and is followed by the development of 
a  new  drug.  Peter  Kapitein  asked  why,  for  instance,  patients  are  not  consulted  about  which 
diseases  to  investigate.  Maired  O’Driscoll  of  the  Health  Research  Board  in  Ireland  said  there  is  a 
great  demand  for  information  about  how  the  health  and  research  systems  work.  How  to  engage 
patients  in  this  process  is  an  important  issue.  Jan  Geissler  said  the  European  Medicines  Agency 
does  a  great  job  involving  patients  in  some  of  its  discussions.  This  example  could  be  followed  by 
the national agencies. Furthermore, once a product is on the market, patients need to be involved 
in  reporting outcomes from  their  treatments.  Rudi Westendorp  said that the benchmarks used by 
public authorities to reimburse medicines may need to be revisited to take more account of patient 
needs. 

The following additional points were made: 

  We don’t yet know how to optimise consultations between patients and their doctors.  

  There needs to be more shared decision-making between patients and their doctors;   

  Treatment  guidelines  and  protocols  are  physician-oriented;  they  need  to  be  more  patient-

oriented; 

  Value-based  healthcare  has  yet  to  be  achieved;  there  are  costs  borne  directly  by  healthcare 

systems. But still to be measured are the indirect costs to families; 

 

Information  obtained  from  patients  about  their  treatments  –  patient-  reported  outcomes  –  is 
valuable.  It  can  be  used  as  a  basis  for  discussions  between  the  patient  and  his/her  doctor  as 
well as a framework for discussions with future patients 

11 

 
 
 
CHALLENGE 2:                                                                        
INTEGRATING BIG DATA AND ICT SOLUTIONS 

Introducing  this  session,  Wolfgang  Ballensiefen,  senior  scientific  officer  at  the  DLR  Project 
Management  Agency  in  Germany  and  Challenge  Facilitator  for  IC  PerMed  Challenge  2,  said  that 
recommendations  from  the  report  Shaping  Europe’s  Vision  for  Personalised  Medicine  need  to  be 
brought  to  the  next  level.  Big  Data  will  be  the  backbone  of  future  research.  The  healthcare 
community  will  need  tools  that  can  store  this  data,  which  includes  clinical  information  as  well  as 
data on lifestyles. Furthermore, research into data collection, storage, harmonisation and security 
is needed, as well as strategies to make sense of this data. An example of how this can be done is 
the  field  of  weather  forecasting.  For  example,  some  cities  already  use  Big  Data  to  predict  future 
weather patterns. Similarly in personalised medicine, both hardware and software approaches can 
aid research and help optimise health systems. In parallel, solutions need to be found for managing 
access  to  data,  and  data  ownership  and  privacy.  This  will  require  research  into  the  ethical,  legal 
and social dimensions and new innovative approaches. 

Michal Rosen-Zvi, Director of IBM Research Healthcare Informatics in Haifa, Israel, explained how 
data is changing the profile of medicine. Two examples are advances that have been made in the 
treatment of AIDS (acquired immune deficiency syndrome) and cancer. Once a fatal disease, AIDS 
is now a chronic illness that can be managed with drugs. These drugs have been developed from a 
greater  scientific  understanding  of  the  proteins  that  make  up  the  human  immunodeficiency  virus 
(HIV). The protease and reverse transcriptase proteins include more than 300 different amino acids 
which  are  relevant  to  the  design  of  new  therapies.  This  knowledge  was  gained  from  data  on  the 
structure  of  the  HIV  genome.  Taking  this  one  step  further,  physicians  have  been  able  to  extract 
samples of the virus from a patient’s blood and test these samples against all possible drugs. This 
enables  them  to  recommend  the  optimal  treatment  for  patients.  The  procedure  has  been 
computerised  thanks  to  the  work  of  EuResist,  an  international  research  project  that  received 
funding  from  the  European  Commission  under  the  Sixth  Framework  Programme.  EuResist 
assembled data from 10 European centers covering the medical records of 65,000 patients over a 
period  of  20  years.  This  was  integrated  with  information  about  the  structure  of  the  virus  and 
licensed  HIV  therapies.  EuResist  is  now  a  non-profit  organisation  managed  by  five  research 
partners (www.euresist.org). 

Cancer is also moving from a fatal to a chronic disease, at least for some types of cancer. But the 
challenges  in  developing  treatments  are  different  from  those  of  HIV.  Genomic  information  is 
important but so is data on a patient’s diet and lifestyle and on the environment. Dr Rosen-Zvi said 
cognitive  computing  comes  into  play  in  cancer,  particularly  in  radiology.  The  company’s  Watson 
Health unit has developed artificial intelligence, together with algorithms, that can read the content 
of  databases  and  sift  through  medical  images  (eg  mamographies,  ultrasound  or  magnetic 
resonance imaging), to help doctors find information for a diagnosis. To advance this business, IBM 
recently  acquired  a  medical  imaging  company,  a  population  health  management  company,  an 
insurance  business  and  a  healthcare  analytics  company.  The  company  has  also  put  in  place 
partnerships with Medtronics to develop technology to give people with diabetes an early warning 
of hypoglycaemia.  

Ernst Hafen, head of the Institute of Molecular Systems Biology at ETH Zurich, described a different 
business model for collecting and analysing health data. This is MIDATA (previously mentioned by 
Rudi Westendorp in the session on patient empowerment). MIDATA is a not-for profit cooperative 
consisting of data banks that are owned by members who also contribute the data. All of the data 
is  encrypted  and  only  members  possess  a  key.  The  technology  platform  has  been  developed  by 
software engineers at ETH and Berner Fachhochschule BFH and is accessible via third-party Apps. 
Patients can access their own data or share their data with third parties. But they take the decision 
to share it. Any revenue generated by the secondary use of the member-controlled data is invested 
in  products  and  services  that  benefit  the  members  and  society-at-large.  In  a  reversal  of  current 
practice, patients can themselves signal their interest in participating in a clinical trial rather than 
waiting to be recruited by a contract research organisation. Whereas MIDATA is the name given to 
the  national  data  cooperatives,  MIDATA.coop  is  the  federation  of  national  cooperatives.  The 
federation  has  a  common  IT  structure  and  a  common  data  exchange  platform,  similar  to  SWIFT. 
which  is  the  cooperative  that  provides  secure  messaging  services  for  the  financial  industry.  Dr 
Hafen  said  the  cooperative  approach  gives  the  citizen  control  over  data  collection  and  use,  thus 
overcoming the distrust many people have with global data companies. 

An example of how personalised medicine can be applied on a national level was given by Andrew 
Morris,  director  of  the  Usher  Institute  of  Population  Health  Sciences  and  Informatics  at  the 
University  of  Edinburgh.  Dr  Morris  is  also  the  chief  scientist  for  health  in  Scotland.  Using  case 
studies, Dr Morris explained how Scotland employs information technology to predict and manage 

12 

 
 
disease within the Scottish National Health Service. With a budget of €15.6 billion, the NHS is the 
single-payer healthcare provider for the five million people living in Scotland. The service consists 
of 38 hospitals and 1,020 general practices and is governed by 14 territorial boards. Every patient 
in  the  system  has  a  unique  patient  identifier  number  which  is  included  in  a  centrally  maintained 
registry.  Citizens  have  electronic  patient  records  that  are  protected  by  special  security  software. 
The  patient  records  can  be  linked  to  other  data  sources  for  research  purposes,  for  example,  to 
discover  the  prevalence  of  a  disease  or  evaluate  the  effectiveness  of  a  public  health  policy.  An 
example of the latter is a survey conducted of the population to determine the effect of legislation 
banning smoking. The results showed that childhood asthma increased by 5.2% per annum before 
the  ban.  After  the  ban,  the  disease  decreased  by  18.2%  per  annum.  In  another  study,  Scottish 
researchers  showed  that  regulatory  concerns  about  adverse  events  related  to  varenicline,  a 
smoking  cessation  product,  were  unfounded.  And  in  a  third  example,  they  used  a  genome-wide 
association  study  to  show  that  variations  in  the  gene  ATM  can  alter  the  glycaemic  response  to 
metformin, a diabetes drug, in patients with type 2 diabetes. 

Dr  Morris  said  the  future  of  personalised  medicine  depends  on  being  able  to  harness  digital 
technology. But there are still issues that need to be resolved about governance, data quality, data 
maturity,  standardisation,  and  trust.  This  will  require  data  providers  and  users  to  agree  on 
standards,  clarify  responsibility  for  the  flow  and  control  of  data  and  be  more  transparent  about 
their activities. In the UK, the Farr Institute of Health Informatics Research is setting  an example 
by linking electronic health data with other forms of research to build capacity in health informatics 
research. The Institute is partly funded by the Medical Research Council. At EU level there are also 
opportunities to develop health data science. Could the EU lead the way? Dr Morris asked. 

Another  example  of  a  data  cooperative  is  the  Innit  Foundation,  located  in  Amsterdam,  the 
Netherlands.  Mitzi  László,  co-founder,  explained  the  concept.  The  foundation  is  a  not-for-profit 
organisation  that  stores  encrypted  personal  data.  Connected  to  the  foundation  is  a  commercial 
company  which  has  links  with  other  commercial  entities.  Users  can  store  their  data  in  the 
foundation. If they wish to do so, they can offer their health data for medical research. A system of 
double encryption protects this information. At the same time users can release data through the 
company  for  commercial  purposes.  In  the  latter  case,  the  user  makes  money  on  the  transaction 
rather than a global company like Google or Facebook, Ms László said.  

Janet  Thornton,  senior  scientist  and  Director  Emeritus  at  the  European  Bioinformatics  Institute 
(EBI),  European  Molecular  Biology  Laboratory  (EMBL)  in  Hinxton,  UK,  discussed  the  challenges  of 
interpreting  genomic  data.  Getting  this  right,  will  have  a  direct  impact  on  the  uptake  of 
personalised  medicine.  The  human  genome  consists  of  three  billion  base  pairs  of  DNA,  of  which 
there  are  four  million  variants.  These  variants  are  the  source  of  many  diseases.  Deciphering  the 
variants  can  be  difficult  because  they  are  many  types.  They  include  single  nucleotide 
polymorphisms, copy number variants, splice site variants, variants in promotors and variants that 
affect  signalling.  The  variants  in  turn  can  have  an  impact  on  proteins,  protein  structure  and 
molecular  pathways.  Interpreting  the  data  however  can  be  difficult.  Could  personalised  medicine 
help?  Prof  Thornton  said  that  developing  global  public  data  resources,  to  identify  actionable 
variants,  is  a  start.  Large  resources  already  exist,  but  they  need  to  be  fully  public  and  operate 
according to global standards. This is already happening through the Global Alliance for Genomics 
and Health (http://genomicsandhealth.org), and Elixir. The Global Alliance is a group of more than 
400  institutions  working  to  create  interoperable  technical  standards  for  managing  and  sharing 
genomic and clinical data. Elixir is a European infrastructure for life science information.  

To complete the infrastructure,  each  country in  the EU  could establish an Institute for  Biomedical 
Data  and  Informatics.  These  institutes  would  look  after  personal  genomics  data.  In  the  larger 
nations, the institutes would probably be networks. The EU could then launch a project to join up 
the  institutes.  Such  an  effort  would  build  on,  and  interact  closely  with,  Elixir  as  well  as  BBMRI 
(Biobanking  and  BioMolecular  Resources  Research  Infrastructure)  which  is  another  research 
infrastructure  project.    Prof  Thornton  said  training  would  be  required  for  a  new  cadre  of  clinical 
scientists who  are  experts in  genomic medicine,  and in  data handling and interpretation.  Training 
would also be required for hospital doctors, nurses and other carers. 

Jaak  Vilo,  Professor  of  Bioinformatics  at  the  University  of  Tartu  in  Estonia,  described  how 
information  technology  can  enable  personalised  medicine  when  it  is  integrated  into  a  single 
infrastructure. Each citizen in Estonia has a unique identification (ID) code, an ID card and a smart 
card. The Estonian IT architecture includes registries for population, health and vehicles as well as 
registries for document management, banking and telecommunications. Citizens can gain access to 
the registries through portals, which communicate with the registries after passing through security 
software.  In  2015,  Estonia’s  1.3  million  citizens  directed  more  than  500  million  queries  to  the 
registries.  The  health  subset  of  the  IT  architecture  contains  a  prescription  centre  as  well  as 
registries  for  hospitals,  family  doctors  and  pharmacies.    Nearly  all,  or  99%,  of  prescriptions,  are 
obtained electronically, Prof Vilo said.  

13 

 
Besides  handling  millions  of  transactions,  the  system  also  supports  research.  For  example,  the 
records  show  doctor  visits  and  tests,  and  they  can  show  different  diagnoses.  A  retrospective 
analysis can then find out how much each diagnosis has cost the health system. With people willing 
to  donate  information  and  samples  to  the  biobank,  researchers  are  now  performing  a  variety  of 
analyses including whole genome and exome sequencing, RNA sequencing and measuring telomere 
length.  This  information  can  then  be  used  to  determine  the  risk  factors  for  disease  among 
members of the population. Prof Vilo concluded that personalised medicine needs to be supported 
by  analyses  that  are  derived  from  electronic  health  data  as  well  as  good  genetic  databases.  The 
databases should store annotated genetic variants and validated predictive models of disease that 
can be acted upon. 

Panel discussion 

The  discussion  focused  on  two  different  models  for  building  databases  with  personal  healthcare 
information:  the  commercial  model  as  illustrated  by  IBM  and  the  co-operative  model  as 
represented  by  MIDATA  and  the  Innit  Foundation.  The  main  issue  was  understanding  how  a 
patient’s identity is protected under each model and how access to this data is managed. Members 
of the audience wanted to know whether a person who has donated information to a databank can 
reverse  this  decision  and  get  the  data  back  if  his  or  her  circumstances  change.  There  were  also 
questions  about  who  gives  consent  on  behalf  of  children.  During  the  discussion  it  was  noted  that 
consent  can  sometimes  be  indirect.  Dr  Rosen-Zvi  said  that  IBM  has  acquired  other  companies  in 
order  to  get  access  to  data.  It  didn’t  buy  patient  data  but  it  bought  companies  that  have  ethical 
agreements with these patients. Dr Morris said that regardless of the business model, the guiding 
principle  should  be  transparency.  The  manager  of  a  database  must  be  fully  transparent  with  the 
donor about the uses to which the database will be put. Scotland distributes leaflets which explain 
how it plans to use the healthcare information that it collects.  

CHALLENGE 3:                                                                      
TRANSLATING BASIC TO CLINICAL RESEARCH AND BEYOND 

This  session  was  introduced  by  Natalia  Martin,  of  the  French  National  Research  Agency  (ANR)  as 
the  Challenge  Facilitator  for  IC  PerMed  Challenge  3,  serving  in  that  function  together  with  Daria 
Julkowska,  of  the  ANR,  and  Hemma  Bauer  of  the  Austrian  Ministry  of  Science,  Research  and 
Economy.  

The  session  began  with  a  keynote  address  by  Nicholas  Katsanis,  Director  for  Human  Disease 
Modelling at the Duke University School of Medicine in the US. Dr Katsanis discussed the challenge 
of  interpreting  genetic  variations  accurately.  Citing  a  study  involving  the  genetic  disorder  Kabuki 
syndrome,  he explained how  scientists used whole-exome sequencing to identify  a mutation on  a 
gene called RAP1A in a patient with Kabuki syndrome and another mutation in the gene RAP1B in a 
second  individual  with  Kabuki  syndrome-like  features.  The  scientists  constructed  a  disease  model 
using  zebrafish  and  were  able  to  describe  the  genetic  and  functional  interactions  between  the 
genes.  This  revealed  that  the  pathophysiology  of  Kabuki  syndrome  overlapped  with  that  for 
RASopathies. RASopathies is a term that describes another type of developmental syndrome. As a 
consequence,  a  pathway  was  discovered  for  potential  new  therapies.  Dr  Katsanis  said  the 
experience  illustrated  the  importance  of  strong  genetics  and  biochemistry  and  the  willingness  of 
scientists to collaborate. He cautioned however against an over-reliance on information technology. 
Scientists still need time to work out a solution to problems and “give each other the opportunity 
for serendipity.”  

Markus  Perola,  research  professor  at  the  National  Institute  for  Health  and  Welfare  in  Helsinki, 
Finland,  explained  how  an  important  public  health  problem  can  be  solved  through  a  community-
based  intervention.  The  example  is  the  North  Karelia  Project,  a  public  health  programme  that 
sought  to  address  high  rates  of  cardiovascular  disease.  In  the  early  1970s  the  Karelian  region  in 
Finland  had  the  highest  cardiovascular  mortality  rates  in  the  world.  To  tackle  the  problem  the 
health  service,  along  with  partners,  set  out  to  reduce  the  risk  factors  for  disease  by  encouraging 
people to stop smoking and reduce the amount of saturated fat in their diets. The project started in 
1972  and  surveys  conducted  over  subsequent  years  showed  a  high  rate  of  compliance.  Mortality 
rates from chronic heart disease showed a significant decline. Dr Perola attributed this success to 
restricted,  well-defined  targets,  good  monitoring  of  immediate  targets,  working  closely  with  the 
community and the media and support from the World Health Organization. What are the lessons 

14 

 
 
 
 
for the future? Family history is still an important diagnostic tool and can be more informative than 
many genome-based studies. Despite the large amount of data generated from these studies, only 
a  small  proportion  of  the  phenotypic  variation  among  individuals  was  explained.  This  is  an  area 
that  merits  attention.  Meanwhile  further  studies  are  needed  to  explain  how  practitioners  can 
predict  disease  progression,  or  patient  response  to  specific  treatments,  on  the  basis  of  gene 
variants. 

Sabine  Tejpar,  professor  at  University  Hospital  Leuven  in  Belgium,  explained  why  doing 
retrospective analyses of trials is important in  advancing personalised medicine.  To illustrate,  she 
gave the history of cetuximab, a monoclonal antibody therapy approved by the US Food and Drug 
Administration  for  advanced  colorectal  cancer  in  2004  (the  same  year,  the  European  Commission 
granted  it  market  authorisation  under  a  different  name  in  the  EU).  The  antibody  targets  cancer 
cells  expressing  the  epidermal  growth  factor  receptor  (EGFR).  While  the  binding  of  cetuximab  to 
EGFR  stopped  cancer  growth  in  many  patients,  it  soon  became  apparent  that  it  did  not  work  for 
everyone.  As  a  result  scientists  undertook  retrospective  analyses  to  find  out  why.  Their  research 
identified  a  gene  mutation  that  was  present  in  some  patients  but  not  in  others.  As  discussed  in 
several  academic  papers,  patients  with  a  mutation  in  the  K-ras  gene  resisted  the  therapy,  while 
those  with  a  normal,  or  wild-type  gene,  did  not.  In  2012  the  FDA  approved  a  new  indication  for 
cetuximab  (followed by  an  approval by  the European  Commission in  2013), this time for  patients 
with the K-ras wild-type gene. They also authorised a diagnostic to accompany the drug that can 
identify patients with the correct genetic profile. 

Dr  Tejpar  said  the  reanalyses  took  years  to  complete,  and  points  to  a  second  issue.  This  is  the 
need  for  validated  biomarkers  to  predict  disease.  Different  companies  are  producing  different 
biomarkers for the same treatments, but these efforts need to be consolidated. As a starting point, 
neutrally-held biobanks (not owned by companies) should be a standard feature of clinical trials. In 
this way, retrospective analyses would be easier. 

David  Jones,  professor  of  liver  immunology  at  Newcastle  University  in  the  UK  talked  about 
stratification in clinical trials. Professor Jones is also a principle investigator in the UK-PBC Research 
Consortium,  a  group  that  is  researching  the  causes  and  possible  treatments  for  chronic  liver 
disease  (primary  biliary  cirrhosis  or  PBC).  The  only  licensed  therapy  for  the  disease  is 
ursodeoxycholic acid (UDCA). This drug slows the progression of the disease, but nearly one-third 
of  patients  don’t  respond  well,  or  at  all,  to  the  drug.  This  raises  the  question  of  what  approach 
researchers  should  take  to  find  a  better  therapy.  Professor  Jones  said  that  there  are  significant 
challenges  in  designing  a  clinical  trial  for  stratified  therapy  of  PBC,  including  lack  of  relevant 
biomarkers and the difficulty in performing a histology-based trial. 

Panel discussion 

Panelists  agreed  that  there  is  far  more  scientific  collaboration  now  than  five  years  ago  when  the 
first European Commission conference on personalised medicine took place. What is less advanced 
is the link between fundamental research and clinical research. “The biology is moving faster than 
drug development and clinical trials,” said Fabien Calvo of Cancer Core Europe. For example in liver 
cancer, researchers have identified at least seven different pathways with up to 30 different genes, 
as  well  as  a  virus,  some  of  which  could  potentially  be  treated  with  new  drugs.  But  there  is  not 
enough  clinical  data  to  support  these  hypotheses.  This  leads  to  the  question  of  whether  the 
biological  samples  in  biobanks  across  Europe  are  adequate  to  support  a  large-scale  personalised 
medicine  initiative.  Some  panalists  said  that  sample  sizes  are  too  small,  and  not  sufficiently 
standardised.  Jan-Eric  Litton  said  his  organisation,  Biobanking  and  Biomolecular  Resources 
Research Infrastructure (BBMRI), is working towards making biobanks more fit for purpose. Better 
samples mean better biomarkers, he said. These can then be used to design better clinical trials. 
With  regard  to  Europe's  clinical  trial  infrastructure  to  support  personalised  medicine,  Jacques 
Beckmann  of  the  Swiss  Institute  of  Bioinformatics,  said  the  infrastructure  was  “terrific.”  However 
Christine  Mayer-Nicolai  of  Merck  KGaA  said  there  was  a  lack  of  infrastructure  to  recruit  small 
numbers of patients across countries, which is what personalised medicine will require.    

The following additional points were made: 

  Clinical data, including the descriptions of disease, need to be standardised; 

  The  backbone  of  personalised  medicine  is  the  patient  sample.  Biobanks,  which  contain  these 

samples, need to be fit for purpose and exhibit the highest quality; 

  Patient samples are important, but so is phenotyping. Phenotypic data needs to be collected in a 

well-defined manner; 

  A  European  research  infrastructure  is  important,  but  there  also  need  to  be  communication 

efforts directed at the local research community; 

15 

 
  There is a need to develop more biomarkers from proteins.  

CHALLENGE 4:                                                                                      
BRINGING INNOVATION TO THE MARKET 

Peter  Høngaard  Andersen,  chief  executive  of  the  Innovation  Fund  in  Denmark  and  Challenge 
Facilitator for IC PerMed Challenge 4, introduced the session by pointing out that some of the most 
successful medicines are the product of an ecosystem, rather than the efforts of a single company. 
He  used  Novo  Nordisk  A/S’s  Victoza,  a  non-insulin  medicine  for  diabetes,  as  an  example.  Victoza 
was  approved  for  marketing  in  the  EU  in  2009.  The  market  launch  was  the  culmination  of  more 
than 15 years of  work  that involved several  collaborations.  Some of  the important early  scientific 
work on peptide structure, for example, was carried out by a partnership with Harvard University 
and  Massachusetts  General  Hospital.  Expressed  as  a  net  present  value,  the  cost  of  early  drug 
discovery was the most expensive phase of development. When a drug is launched, companies try 
to  recapture  their  investment  in  the  price.  But  how  do  health  systems  realise  value?  Citing 
Denmark,  Mr  Andersen  said  the  main  players  in  the  value  chain  are  segmented.  The  healthcare 
system pays for patient treatments; employers sustain the cost of lost productivity and insurance 
companies  pay  for  days  lost  due  to  illness.  The  system  needs  to  be  altered,  he  argued,  by 
providing incentives for disease prevention. At the moment, no one is incentivised to pay for this. 
But they should be. This should be a key goal of personalised medicine. 

Panel discussion  

The  panel  discussion  was  led  by  Pierre  Meulien,  executive  director  of  the  Innovative  Medicines 
Initiative. 

Bianca  Wittig,  a  medical  director  from  AbbVie  Inc,  said  the  ‘omics  disciplines  (eg  genomics, 
proteomics and metabolomics) show  how  signalling  pathways  work, thereby  providing a reservoir 
of  new  information  for  drug  targets.  What  is  missing  are  more  companion  diagnostics.  These  will 
need  to  be  developed  through  collaboration  and  standardisation,  and  the  use  of  registry  data. 
Personalised medicine will require a new form of collaboration. 

Raj Long, a senior advisor to the Bill and Melinda Gates Foundation, spoke about the challenges in 
neuroscience  and  the  need  for  policymakers  to  create  incentives  for  new  drug  development  and 
reimbursement.  Alzheimer’s  is  an  example  of  a  disease  where,  despite  much  research,  there  still 
are  no  effective  treatments.  This  is  because  the  disease  biology  is  not  well  understood.  The 
research  community  needs  to  agree  on  what  is  known  and  not  known  and  use  existing  tools  to 
bridge the gap. Payers need to provide incentives for research and innovation, and regulators need 
to ask the question: if you put the patient in the middle, what are the essential risks and benefits? 
The  emphasis  should  be  on  creating  a  single  ecosystem  to  personalise  the  science  around  the 
patient.  

Marisa Papaluca, senior scientific advisor at the European Medicines Agency (EMA), said there is a 
continuum from biomedical research to clinical practice to population health. The task is to join the 
dots  among  these  phases  in  healthcare  by  harnessing  new  data  sources  and  progressively 
changing  the  regulatory  paradigm.  EMA  is  already  closing  some  of  the  gaps  by  engaging 
representatives from health technology assessment (HTA) bodies and patient groups in discussions 
about  proposed  medicines.  But  more  could  be  done  to  help  drug  development,  for  example,  by 
looking  at  models  that  simulate  the  performance  of  a  drug  in  a  preclinical  setting  to  a  clinical 
setting. Regulators could also be helped by more research on outcomes. 

Brian  O’Connor,  chair  of  the  European  Connected  Health  Alliance  (ECH  Alliance)  said  that  most 
experts  in  the  field  understand  the  problem;  the  issue  is  implementation.  The  ECH  Alliance  is  a 
European digital health network. Mr O’Connor commended Scotland and Estonia for implementing 
digital  health  programmes.  He  told  attendees:  “Don’t  spend  time  worrying  about  the  problems; 
implement what you can do at the moment.”   

Virginie  Hivert,  therapeutic  development  director  at  the  European  Organisation  for  Rare  Diseases 
(EURODIS), said personalised medicine shares many of the features of orphan drug development. 
The key feature is bringing the patient into drug development at the right moment. The economic 
models guiding reimbursement also need to be revisited. 

16 

 
 
 
Catherine  Larue,  chief  executive  officer  of  the  Luxembourg  Institute  of  Health  (LIH),  said  that 
innovation is not only a product, but can also be a new process. What is missing from the current 
initiatives  in  personalised  medicine  is  a  biomarker  validation  platform.  The  Integrated  BioBank  of 
Luxembourg, an autonomous institute within the LIH would be prepared to set up such a platform, 
she  said.  Founded  in  2008,  the  biobank  has  more  than  300,000  biological  samples  for  use  in 
applied medical research. The facility is certified by two separate quality management certification 
bodies. 

Dr Meulien fielded questions from the audience which largely revolved around the question of how 
to  influence  the  strategic  decisions  of  pharma  in  relation  to  new  drug  development.  In  response, 
Peter  Høngaard  Andersen  said  that  pharma  needs  incentives  to  develop  drugs  for  small  patient 
populations, where the return on investment is likely to be smaller than for the blockbuster drugs 
of  the  past.  He  suggested  that  companies  receive  a  longer  market  exclusivity  for  personalised 
medicines. Marisa Papaluca pointed out that companies can elect to have parallel scientific advice 
at  the  European  Medicines  Agency  with  health  technology  assessment  bodies.  These  discussions 
have  helped  companies  get  better  value  from  their  investments,  which  itself  is  an  incentive  to 
develop new drugs. Risk-sharing arrangements can also be a tool for helping companies realise an 
investment  return,  Raj  Long  said.  This  could  mean  the  public  authority  commits  to  buying  a 
medicine in advance, in exchange for a company’s agreement to develop it. Dr Meulien concluded 
the  discussions  by  saying  that  moving  the  personalised  medicine  initiative  forward  would  be  like 
“building a plane while it is flying.”  

CHALLENGE 5:                                                                  
SHAPING SUSTAINABLE HEALTHCARE 

Gaetano Guglielmi, Deputy Director General in the General Directorate for Research and Innovation 
in Healthcare in the Italian Ministry of Health, and Challenge Facilitator for IC PerMed Challenge 5 
introduced the session. He said that personalised medicine represents a change in the paradigm of 
medicine similar to the introduction of antibiotics at the end of the second world war. Personalised 
medicine  (eg,  targeted  therapies)  have  had  a  big  impact  on  cancer,  but  the  big  question  is  cost. 
More collaboration among academia, industry and healthcare authorities will be required to address 
the issue of cost. 

Continuing  on  the  theme  of  cost,  Walter  Ricciardi,  president  of  the  National  Institute  of  Health  in 
Italy,  said  IC  PerMed  should  focus  on  disease  prevention.  This  may  be  the  only  way  to  reign  in 
rising healthcare costs.  Personalised  medicine is a  disruptive innovation.  Inevitably  this will mean 
adapting  to  a  new  set  of  values.  Coincidentally,  it  corresponds  with  a  change  in  demographics 
whereby  older  people  are  becoming  a  bigger  proportion  of  the  population,  increasing  healthcare 
costs. Disease prevention therefore should be a priority.  

Frédérique Nowak, head of the biology, transfer and innovation department at the French National 
Cancer  Institute,  explained  the  challenge  of  implementing  a  personalised  medicine  strategy  in  an 
era  of  targeted  cancer  therapies.  Since  2006,  France  has  been  providing  molecular  testing  for  all 
patients with cancer so that they can be prescribed with the most appropriate medicine as soon as 
possible.  The  cost  of  these  tests  is  covered  by  the  Institute  and  the  Ministry  of  Health.  Over  the 
years  there  has  been  a  progressive  shift  from  one-on-one  tests  for  individual  patients  to  a  next 
generation  sequencing  approach,  which  has  increased  the  probability  that  an  actionable  mutation 
will  be  discovered  in  a  patient’s  tumour.  The  cost  of  the  programme  has  therefore  increased 
because  targeted  therapies  are  now  available  for  new  subsets  of  patients.  While  this  has  posed 
challenges,  France  has  nonetheless  been  able  to  integrate  the  stratification  of  patients  into  the 
healthcare system. But the system itself has to be flexible. 

Andres  Metspalu,  director  of  the  Estonian  Genome  Center  at  the  University  of  Tartu,  provided 
further  information  on  the  Estonian  heathcare  system  which  has  been  fully  integrated  with 
computers  and  registries.  He  said  the  system  enjoys  broad  support  from  the  population.  The 
practical  consequence  is  that  if  a  citizen  shows  a  risk  for  cardiovascular  disease,  he  can  do 
something about it by changing his lifestyle. Biobanks are an essential component of the system. 
There may also be a consequence for reimbursement. Just as consumers can return a pizza if it is 
poorly made, perhaps in future patients will be able to return a drug that does not work 

17 

 
 
 
 
 
Panel discussion   

Mary  Harney,  a  former  minister  for  health  and  children  in  Ireland,  led  the  panel  discussion.  The 
panellists  included  Maarten  Ijzerman,  Professor  at  the  University  of  Twente  in  Enschede,  the 
Netherlands;  Varda  Shalev,  Director  of  the  Institute  for  Health  Research  and  Innovation,  Maccabi 
Health  Systems  in  Tel  Aviv,  Israel;  Maria  Aguirre  Rueda,  Director  for  Health  Research  and 
Innovation, Basque government, Spain; Roberto Salgado, Institut Jules Bordet in Brussels, Belgium 
and Matthias Perleth of the Gemeinsamer Bundesausschuss in Berlin, Germany. 

In the discussion, panellists agreed that personalised medicine is an innovation that is here to stay. 
Technology is transforming the way that we understand the drivers of human health and disease. 
Using  next  generation  sequencing,  scientists  can  provide  information  on  a  person’s  genetic 
susceptibility  to  disease,  or  indeed  help  explain  the  drivers  for  good  health.  Together  with 
information from the environment, it is possible to get a holistic picture of a person’s health. The 
innovation goes further however and extends to healthcare systems. Using information technology, 
healthcare providers can collect, store and analyse data on whole populations making it possible to 
identify the most therapeutically effective, and cost effective interventions. Varda Shalev, director 
of  the  Institute  for  Health  Research  and  Innovation  in  Tel  Aviv,  explained  how  Israel  provides 
universal healthcare through a system of health maintenance organisations (HMOs) which compete 
on the basis of a basket of services delivered to patients. The new information technology makes it 
possible  for  data  to  be  collected  from  patients,  analysed  and  then  used  to  design  the  best  care. 
Similar  IT-driven  healthcare  systems  were  described  earlier  in  the  conference  by  representatives 
from Scotland and Estonia. 

Summarising the discussion, Walter Ricciardi, president of the National Institute of Health in Italy 
said there is a potential for Europe to be a leader in personalised medicine provided it makes rapid 
progress  on  systems  for  data  collection  and  management,  including  progress  in  developing  the 
electronic  patient  record.  “We  need  to  create  a  European  ecosystem  by  building  bridges  between 
all parties,” he said. 

FORWARD-LOOK SESSION 

The  conference  closed  on  2  June  2016  with  a  discussion  led  by  Peter  O’Donnell,  journalist,  and 
including  Ruxandra  Draghia-Akli;  Antoni  Andreu  of  the  Regional  Ministry  of  Health  of  Catalonia, 
Barcelona, Spain; Maria Beatriz Da Silva Lima of the University of Lisbon, Portugal; Ilias Iakovidis 
of  the  European  Commission,  Ildikó  Horváth  of  Semmelweis  University  in  Budapest,  Hungary  as 
well as the IC PerMed Challenge Facilitators that had chaired the previous thematic sessions.  

The  theme  of  collaboration  was  picked  up  again  in  the  final  session.  The  term  personalised 
medicine  describes  treatments  for  individual  patients.  But  in  fact  the  infrastructure  that  will  be 
required to deliver this innovation is multinational and involves many disciplines. Professor Da Silva 
Lima, who is chair of the scientific committee of the Innovative Medicines Initiative (IMI), said the 
IMI  can  play  its  part  by,  for  example,  bringing  experts  together  to  develop  databases  to  support 
personalised  medicine.  These  in  turn  could  be  used  to  help  industry  design  new  clinical  trials.  Mr 
Iakovidis said it will be necessary to engage  people across many  sectors to advance personalised 
medicine. While we may know something about tailoring a medicine to a genetic profile, we know 
much less about how life styles and the environment affect health. “Can we do something practical 
on  the  nurture  front,”  he  asked.  This  might  include  helping  older  people  become  more  literate 
about  their  health.  The  social  media  are  important  instruments  for  spreading  information  and 
cannot  be  ignored,  the  panellists  said.  These  media  are  empowering  patients  and  changing  the 
relationships  between  patients  and  their  doctors.  They  are  also  changing  the  way  healthcare 
professionals do their jobs. 

The following additional points were made: 

  Europe needs a ‘new ecosystem’ for personalised medicine; 

  The  Eurobarameter  survey  might  be  used  to  find  out  how  European  citizens  view  their 

healthcare, and what they understand about personalised medicine. 

18 

 
 
 
 
 
 
 

In  designing  the  next  steps,  IC  PerMed  should  study  examples  of  best  practice  such  as  the 
integrated healthcare systems in Scotland and Estonia; 

  New EU legislation on data protection needs to be examined to find out what its impact will be 

on personalised medicine; 

  Elixir,  an  existing  European  infrastructure  for  life  science  information,  should  be  used  to 

advance personalised medicine; 

  Biomarker  research  and  validation  efforts  must  accelerate  so  that  they  can  be  used  in  more 

clinical trials. 

Dr  Draghia-Akli  summarised  the  action  points  by  saying  that  in  the  short  term  IC  PerMed  should 
work on a new taxonomy of disease which would, in an iterative fashion, bridge the basic science 
to  clinical  research.  Then,  over  the  next  five  to  seven  years,  it  will  be  necessary  to  establish 
standards  for  electronic  health  records.  The  two  initiatives  could  start  in  parallel,  but  the  focus 
should be on achieving something concrete in the short-term. 

19 

 
 
 
 
CONCLUSION AND SUMMARY OF ACTIONABLE POINTS 

The  goal  of  personalised  medicine  is  to  put  the  patient  at  the  centre  of  healthcare.  How  this  will 
happen  in  practice  is  still  open  for  discussion.  The  1-2  June  2016  conference  advanced  these 
discussions  for  example  by  showing  how  integrated  healthcare  models  are  working  in  specific 
places  –  Scotland  and  Estonia  –  and  how  business  models  for  personalised  medicine  can  involve 
patients more directly in their healthcare.  

IC PerMed will coordinate research, of the kind discussed at the Personalised Medicine Conference, 
and deliver on its vision to establish Europe as a global leader in personalised medicine research; 
support  the  personalised  medicine  science  base;  provide  evidence  of  the  benefits  of  personalised 
medicine and make this approach accessible to all citizens.  

The following actionable points and comments, that can inform the continued work on IC PerMed, 
were identified by the conference rapporteur: 

Challenge 1: Developing awareness and empowerment 

  A  changing  demography  is  having  an  impact  on  the  patient  population.  Policymakers  need  to 

find ways of specifically engaging older people in the management of their own health. 

  The  MIDATA  cooperative  model  for  data  collection  gives  donors/patients  real  decision-making 

power. How would this model work across the EU? 

  Patients should be consulted in the design of clinical studies, as well as the selection of research 

questions. 

  HTA methodologies need to be reconfigured to take better account of the social value of medical 
interventions. What patients want from their medicines may be different from what the clinical 
trial outcomes tell the regulators. 

  Apps should be developed to make it possible for patients to pose questions about their health 

and receive reliable answers; 

  Regulatory  discussions  should  incorporate  the  patient  view.  This  already  happens  at  the 

European Medicines Agency, but it might be implemented at the national drug agencies. 

  More  use  should  be  made  of  patient-reported  outcomes  of  treatments.  This  applies  across  the 

board from designing clinical trials to evaluating prospective new medicines to HTA. 

  Patients should be engaged in the post-marketing surveillance of their medicines. 

Challenge 2: Integrating Big Data and ICT solutions 

  There is a need to make progress in developing and implementing the electronic patient record. 
In many countries this is happening at a hospital level. In Scotland and Estonia the e-record is 
integrated into the healthcare system. What should the model  for the EU be? Should all citizens 
of the EU also have a unique ID and a patient record, or does that go too far? More clarity on 
the form and purposes of the electronic patient record is required. 

  The  Farr  institute  in  the  UK  links  electronic  health  data  with  other  forms  of  research  to  build 

capacity in health informatics. Something similar could be created at EU level. 

  Computer capacity needs to be increased across the EU. The EU will create a European science 

cloud which can address this issue. 

 

Issues  relating  to  the  ownership  and  management  of  data  need  to  be  clarified,  possibly  in 
legislation. Steps also need to be taken to ensure data quality and maturity and standardisation. 
Rules should also ensure that data can be shared across borders. 

  There is a need to revisit the issue of consent. Are current methods for obtaining consent from 
patients  adequate  for  the  new  digital  age?  If  a  large  company  acquires  a  smaller  company 
giving  it  access  to  patient  records  for  the  first  time,  can  it  assume  that  the  patient  consent  is 
transferable?  What  if  the  new  owner  has  a  different  plan  for  the  use  of  this  data  than  the 
previous  owner?  Are  current  methods  for  obtaining  consent  from  children  and  the  elderly 
adequate?  If  a  patient  has  consented  to  the  use  of  his/her  records  in  a  biobank,  can  that 
consent be withdrawn at any time? 

  The  model  of  the  data  cooperative  should  be  investigated  further  for  its  possible  application 

across Europe. 

20 

 
 
  Consideration should be given to completing the infrastructure started by Elixir with an Institute 
for Biomedical Data and Informatics in each member state. The EU could then launch a project 
to join up these institutes. 

  Strategies are needed to make sense of existing and newly collected data. 

  Examine  how  existing  infrastructures  under  the  European  Strategy  Forum  on  Research 

Infrastructures (ESFRI) can be used to meet the needs of personalised medicine research. 

Challenge 3: Translating basic to clinical research and beyond 

  The  healthcare  systems  of  the  EU  need  to  shift  towards  putting  a  bigger  emphasis  on  disease 
prevention. Scotland and Estonia show how this can be done. Could this be applied across the 
EU as a whole? 

  Patient-reported  outcome  statistics  are  essential  to  the  new  paradigm.  They  need  to  be 

collected and analysed for use in trial design, regulation and reimbursement. 

  The  value  of  genomic  data  is  well  understood.  But  for  translation,  there  also  needs  to  be  a 
better understanding and use of phenotypic data. The phenotypic variations among individuals 
need to be explained and how this affects their responses to treatment. 

  More attention should be paid to the potential for improving existing treatments and finding new 
ones through the retrospective analysis of clinical trials. Biobanks should be a standard feature 
of clinical trials, to enable these analyses to take place. 

Challenge 4: Bringing innovation to the market 

  The clinical descriptions of diseases need to be standardised to enable a better comparison and 

analysis of data. 

  Biobanks need to be fit for purpose; not all of them are. 

  There is a need for an EU platform for biomarker development and validation, possibly building 

on the EMA biomarker qualification programme. 

  A European research infrastructure is important, but there also needs to be a local infrastructure 

for defined projects. 

  Business models need to be explored that reward research strategies for disease prevention. 

  There is a need for more diagnostic tools, perhaps developed in research collaborations. 

  A  risk-sharing  model  for  the  development  of  new  personalised  treatments  in  difficult  diseases 
should  be  explored.  This  could  include  the  development  of  biomarkers  to  differentiate 
responders from non-responders. 

  Computer models that simulate early clinical trials should be explored. This could be an efficient 

way of predicting the success, or failure, of a drug in the clinic. 

  The  EU  could  consider  launching  a  programme  akin  to  national  programmes  such  as  the  UK’s 
100,000 Genomes Project which links genomic and clinical data in order to develop new drugs 
for cancer and rare diseases. 

  The role of wearable sensors in disease management needs to be clarified. 

  Regulators could be helped by more patient-related outcomes research. 

Challenge 5: Shaping sustainable healthcare 

  The  French  molecular  testing  programme  for  cancer  patients  should  be  reviewed  for  possible 

wider application. 

  Economic models for HTA need to be revisited, considering the wider patient perspective. 

  Electronic patient records, registries and biobanks will all contribute to sustainable healthcare in 

the future. 

  Data quality and standardisation are critical for going forward. 

21 

 
 
 
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This  report  is  a  summary  of  the  presentations  and  discussions  which  took  place  at  the 
Personalised Medicine Conference 2016 on 1-2 June in Brussels. Personalised medicine is 
an approach to healthcare that puts the citizen in the centre. By developing tailor-made 
diagnostic,  treatment  and  prevention  strategies,  patients  receive  therapies  that 
specifically work for them. It also allows people to participate in the management of their 
own  health  by  having  access  to  information  about  the  prevention  and  treatment  of 
disease.  The  Personalised  Medicine  Conference  2016  aimed  to  discuss  personalised 
medicine through a research policy lens. It moreover presented a new initiative, bringing 
together  health  research 
funding  and  policy  making  organisations,  called  the 
International Consortium for Personalised Medicine (IC PerMed).  

Studies and reports