Transcript Document

Next generation genomics: translation into
clinically useful applications
in health care
Leiden
10 years CMSB
Martina Cornel
Professor of Community Genetics &
Public Health Genomics
14th October 2013
Quality of Care
Community Genetics, Dept Clinical Genetics
EMGO Institute for Health and Care Research
CMSB: the goal
The Centre for Medical Systems Biology (CMSB) is a joint
activity of Leiden University Medical Center, Leiden
University, VU University Medical Center and Free University
Amsterdam, Erasmus MC Rotterdam and TNO Leiden, aiming
to apply innovative multidisciplinary genomics and
bioinformatics approaches to improve diagnosis, therapy
and prevention of common and rare diseases
Photo: http://www.cad-company.nl/2013/09/05/10-tips-voor-de-reis-naar-bim/
The activities of CMSB
• Identifying genes and biological pathways
involved in onset and severity of disease
• Alzheimer’s disease, arthritis, depression,
diabetes, migraine, immune disorders and cancer
• This suggests the existence of biological master
switches in the human body
www.cmsb.nl
From knowledge to implementation
• … remember that genomics obeys the First Law of
Technology: we invariably overestimate the shortterm impacts of new technologies and
underestimate their longer-term effects.
• The decade from 2000 to 2010 was characterized
by breathtaking acceleration in genome science
• The consequences for clinical medicine, however,
have thus far been modest.
Collins 2010 Nature
After proof of principle…
Khoury 2007 Genetics in Medicine
The continuum of translation
Khoury 2007 Genetics in Medicine
Be prepared to involve…
Modified from Achterbergh 2007
And assess… clinical utility?
• Genetic risk prediction… Mihaescu, Janssens et al
• Updating risk factors may produce contradictory
information about an individual's risk status over
time, which is undesirable if lifestyle and
nutritional recommendations vary accordingly.
Genet Med. 2009
• Genetic testing of multiple SNPs is considered a
potentially useful tool for early detection of
individuals at high diabetes risk leading to
improved targeting of preventive interventions.
PLoS Curr 2011
Clinical utility - Diabetes
• Web-based familial risk information
reduced worry related to diabetes
risk and decreased saturated fat
intake of those at greatest need of
preventative care. However, the
intervention was not effective for the
total study population on improving
risk-reducing behaviour. The
emphasis on familial risk does not
seem to result in false reassurance
among individuals without family
history. Additionally, a detailed
family history questionnaire
identifies more individuals at familial
risk than a simple enquiry.
Wijdenes 2013 BMC Public Health
Assess… patients/consumers interest?
• Parental Opinions about the Expansion of the
Neonatal Screening Programme.
Detmar et al. Community Genetics 2008
The divergence in attitudes and preferences we
found in this study reflected the complexity inherent
in any consideration of screening for additional
conditions. To implement such options successfully
and to direct applied research in genomics, it is
important to develop a better understanding of the
thinking of target groups, namely parents.
Assess… legal issues?
• Which lessons can we learn from the European
Union legal framework of medicines for the
regulation of direct-to-consumer genetic tests?
• The EU laws governing medicines can,
notwithstanding their shortcomings, serve as an
example for (central) authorising the marketing of
DTC genetic tests on the internal market in
accordance with strict criteria regarding predictive
value and clinical usefulness.
Van Hellemondt R et al. Rev Derecho Genoma Hum. 2012
Assess… ethical issues?
• Informed consent
• DTC testing
• The quantity and
the complexity of
risk information
pose challenges
to adequate pretest and post-test
information
provision and
informed consent.
Bunnik 2013 EJHG
Be prepared to involve…
Modified from Achterbergh 2007
Proposed roadmap
(Houwink 2013)
Assess… learning needs MDs
Focus group study:
(1) genetics knowledge
(2) family history
(3) ethical dilemmas and psychosocial effects in
relation to genetics and
(4) insight into the organisation and role of clinical
genetics services.
Houwink 2011 BMC Family Practice
Develop modules oncogenetics
• Genetics e-learning Continuing Professional
Development (CPD) module Houwink EJHG 2013
• 4h consultation skills training, evaluated with
unannounced standardized patients visits
Houwink GIM 2013
• Website www.huisartsengenetica.nl
• eCPD: at 6 months follow up increased knowledge
scores
• Face-to-face skills training: Key consultation skills
significantly and substantially improved, moderate
effect size
Proposed roadmap
(Houwink 2013)
• Improve genomic literacy by training & education
• Improve possibility to register family history (ICPC)
3. (Access to) up-to-date and unambiguous
guidelines.
4. (Apps to) self-register family history
• such as familyhealthware.com
5. Proactive genetic services integrated in GP service
facilitated by ICT
• multidisciplinary; from tissue sample in pathology
to clinical geneticist & patient
Next generation genomics:
-› translation into clinically useful applications
in health care!
•What is clinically useful?
•What do patients/citizens need?
•What is allowed? Acceptable?
•Develop guidelines
•Train
•Live longer & healthier!
THANK YOU FOR YOUR
ATTENTION