On the major trend towards personalised medicine – and other visions:
the Public Health Genomics (PHG) perspective
Prof. Dr. Angela Brand MD PhD MPH, Director of the European Centre for Public Health Genomics
(ECPHG), Coordinator of PHGEN (DG Sanco)
Institute for Public Health Genomics@Maastricht University, The Netherlands
9th Swiss Congress on Health Economics and Health Sciences (Bern 26.10.2012)
Public Health Genomics (PHG):
translational research
„from cell to society“
“Public Health Genomics (PHG) is the responsible and
effective translation of genome-based knowledge and
technologies into public policy and health services for the benefit
of population health.”
[Bellagio Statement 2005: GRAPHInt, PHGEN, IPHG]
1. What do we need to translate?
2. How do we translate (innovations into healthcare systems)?
1. What do we need to translate?
… genomics is a „moving target“ …
… from the
Human Genome Project
to the
Personal Genome Project …
… from
single and linear systems
to
non-linear networks in systems biology and systems medicine …
Not only 4 P‘s …
… not only beyond the 4 P’s, but also (A. Brand, 2008) …
1. from common complex diseases
to “multiple rare diseases”
2. from diseases to “diseasomes”
3. from risk factor to “risk pattern”
4. from clinical utility to “personal utility”
… obesity story (21.08.2012)
….. and also
(1) highly (in space & time) dynamic personal (health) information
(2) from statistical risks within groups to “individualized evidence”
(3) “virtual individual models”
ITFoM (www.itfom.eu) – ”ICT for health & health for ICT”:
a radically new vision for healthcare!
The Idea –
Oganism = Computer
Genome
Life is the translation of the
information in the genome into the
phenotype of the organism:
The organism ‚computes‘ this
phenotype from its genotype, given a
specific environment
(PentiumV)
(neuronal net visualisation)
Phenotype
http://itfom_portal.nakijken.nl/
www.itfom.eu
“From Stratified Medicine to truly Individualized Medicine“
•
•
•
No existing groups, only individuals
 Every test will be part of treatment. No result can be transferred to
another patient.
Every therapy is unique, not reproducible.
No existing method on how to evaluate the new kind of technology
 How can we fulfill the hierarchy of evidence, the golden standard to
prove the efficacy of a treatment?
The patient is not only consumer of the technology, but also part of it
 There is no boundary between patient and treatment.
The patient is a unique part of the technology itself.
“The contemporary clinical trials development process is like a duck-billed platypus, an
organism that no rational person would have designed a priori.”
[[David Steensma, DFCI, JCO, 2009]
2. How do we translate innovations into healthcare systems?
Translation in daily life
• Direct / timely implementation in healthcare quite low
(Literature, Patents, Market data)
• Identify 3 phases:
• Lab  Industrial application
• Industrial application  Market
• Market  Healthcare integration
• Focus generally on first two phases
1
9
Technology Transfer (TT)
• Addresses 1st two phases
• Activity of the migration of
academic discoveries to useful
application in the
development of marketable
products or processes
• TTO or valorization office
• Most widely used activity in
business development or
academic research
• Process, technique, method,
tool, activity
Public Health Trias (3rd phase)
[IOM, 1988]
innovation & awareness & society
Medical
benefit
• Outcome,
Safety
• Willingness
Economic
added
value
Scientific
knowledge
Ethical
and social
Legal
framework
• Financial
sustainability
• ROI
• Evidence and
innovation
• New solutions
• Fairness
• Acceptance
•Private protection
•Public interests
Public Health Assessment Tools (PHAT)
• HNA: systematic method of reviewing the health issues facing a population,
leading to agreed priorities and resource allocation that will improve health
and reduce inequalities
• HTA: multidisciplinary process that summarizes information about the
medical, social, economic, legal and ethical issues related to the use of a
health technology in a systematic, transparent, unbiased, robust manner.
• HIA: combination of procedures, methods and tools by which a policy,
program, or project may be judged as to its potential effects on the health
of a population, and the distribution of those effects within the population
LAL Model: Learning Adapting Leveling
Journal of Translational Medicine 2011, 9:207
2
4
“… we face a time when the taxonomy of human disease is being redefined given the
existence of pathological and molecular disease subtypes…”
[Nuria Malats, CNIO 2009]
… we face a time when boundaries of disciplines are crossed and the understanding of
diseases is changed as it happened before with the jump from the macroscopic view in
anatomy to the microscopic view in cell structure …
Let’s get prepared in time – the future is built today!
Public Health Genomics European Network (PHGEN)
PHGEN II
"European Best Practice Guidelines for Quality Assurance, Provision and Use of Genomebased Information and Technologies”
Declaration of Rome - 19.04.2012
www.phgen.eu
PHGEN II
We have to define today
what kind of (policy) „guidelines“ we need for tomorrow!
… taking into account e.g.
• dynamics of the field: genomics is a „ moving target“ (from HG to PG)
• genome-environment interactions changing permanantly over time and space
(incl. epigenomics: „from cell to society to cell“)
• health information instead of biomarkers
• systems network thinking of biomedicine and environment (incl. social
environment): e.g. „diseasomes“ and „social networks“
• P4 medicine (predictive, preemtive, personalised, participatory):
„a change of view that changes everything“
• the changing roles of patients and doctors
… paradigm shift in Public Health
towards Personalised Healthcare!
health promotion and prevention in public health
risk groups
or
communities
settings
“one size fits all”
prevention in public health genomics
individuals
family history
lifestyle
genomic profiling
risk groups
risks for
“diseasomes”
with similar risk
patterns
1. Research
•
•
Keep up with new insights from basic sciences.
Generate evidence to demonstrate when the use of genome-based information and technologies (GBIT) in public
health can improve health outcomes in a safe, effective and cost-effective manner.
2. Monitor Health
•
•
Develop surveillance systems of personal health data: accurate and ongoing assessment of highly dynamic health
information changing over space and time on the individual level with a life-course perspective is needed.
Promote personal files that contain comprehensive personal health information including ‘omics data and its
interaction with all other health determinants.
3. Diagnose and Investigate
•
•
Move from symptom- and phenotype-based approach to pathway-based cloud diagnostics for early identification
of health problems on individual level.
Move from “clinical utility” to “personal utility”.
4. Inform, Educate, Empower
•
•
Promote health literacy of all stakeholders: enable citizens (including health professionals), individually and
cooperatively, to access, understand, appraise, and apply information that will facilitate the application of GBIT
for the benefit of individual citizens and their communities.
Promote person-centred healthcare.
5. Mobilize Community Partnerships
•
Promote Public Private Partnerships (PPP): Mechanisms, tools and models are required to link the needs of
healthcare systems to those of the private sector and to foster the development of individualized technologies
(e.g., Learning Adapting Levelling model).
6. Develop Policies
•
Treat GBIT as the most holistic approach of health information when developing health policies.
7. Enforce Laws
•
Use the dynamics of GBIT as a unique opportunity to frame and enforce laws and regulations pro-actively.
8. Link to / Provide Care
•
Develop systems that sustain the interoperability between personal health management and public health
management.
9. Assure Competent Workforce
•
Integrate GBI and GBT into the professional training and life-long learning (LLL) curricula of health professionals.
10. Evaluate
•
•
Establish and support a holistic and systems based evaluation of the impact of GBIT, taking into account economic
issues and the different European health systems.
Promote a system where technology transfer (TT) activities and policy-based Public Health Assessment tools
(HNA, HTA, HIA) run in parallel for the timely, effective and efficient evaluation of GBIT.
Thanks for your attention!
“Future perspective
Personal health drives a fundamental change
not just in what is known, but also in how we
think of ourselves and the way we are living,
thus redefining our society. The political will is
there, but we have to prepare for all the various
organizational changes…. in time.”
Personalized Medicine
March 2012, Vol. 9, No. 2, Pages 115-119 , DOI 10.2217/pme.12.16
(doi:10.2217/pme.12.16)
Public health perspective: from personalized medicine to personal health
Tomris Cesuroglu, Ben van Ommen, Núria Malats, Ralf Sudbrak, Hans Lehrach & Angela Brand