SLIDE 1 The PRECeDI project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 645740.
THE EVALUATION AND THE IMPLEMENTATION OF GENETIC/GENOMIC APPLICATIONS: AN HEALTH TECHNOLOGY ASSEMENT EXERCISE?
Paolo Villari, MD MPH Professor of Hygiene, Director Department of Public Health and Infectious Diseases Sapienza University of Rome, Italy paolo.villari@uniroma1.it
SLIDE 2 The PRECeDI project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 645740.
Domain 2 Economic evaluation of predictive genomic applications Domain 5 Identification of organizational models for the provision of predictive genomic applications
Paolo Villari, MD MPH Professor of Hygiene, Director Department of Public Health and Infectious Diseases Sapienza University of Rome, Italy paolo.villari@uniroma1.it
PRECeDI Recomendations
SLIDE 3 The PRECeDI project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 645740.
Domain 2
EVALUATION
PRECeDI Recomendations Domain 5
IM IMPLEMENTATIO ION
SLIDE 4 GENOMICS IN PUBLIC HEALTH
“A mul ultidi disciplinary f field d conc ncerned w d with h the he effective ve and nd respo ponsibl ble t trans nslation o
geno nome-ba based k kno nowledg dge a and nd techno hnologies t to impr prove ve po population he health” (Bellagio Statement, 2006) As g s gen enome-based sed r resea earch g gener erates n es new i idea eas for healthcare innovat ation, n, the here i is a c critical ne need d for an n evalua uation pr process, ba based i d in n ong ngoing i integration o
nowledge w withi hin n and nd across mul ultipl ple di disciplines ( (inc nclud uding E ELSI) I) to de determine the he o
utcomes, bo both he h health-related a and nd social, of ne new geno nome ba based d
In the he absenc nce o
robus bust evalua uation s strategy, a a trial-an and-error
proc
- cess of
- f innov
- vation
- n oc
- ccurs. R
Resulting c commercial incen entives t ten end t to promote e the e value e of g gen enetic tests ba based o d on n the he intui uitive app ppeal o
nowledge i in n the he absenc nce of pr prove ven be
. Thi his appr pproach is a already dy evide dent i in n dire rect-to to-consumer a and nd -ph physician m marketing of g gene netic t tests, and nd rep eprese esents s a po potential dr drain n on n he healthc hcare r resources. Ther ere e is a s also so a a risk sk t that e effec ective e innovations s will not b be e impl plemented, o
plemented ha hapha phazardl dly Burke, 2006
SLIDE 5
INAPPROPRIATE USE vs s CITIZENS’ RIGHTS
GENETIC/GENOMIC APPLICATIONS SHOULD BE EVALUATED RIGOROUSLY BEFORE ENTERING INTO CLINICAL AND PUBLIC HEALTH PRACTICE GENETIC/GENOMIC APPLICATIONS WITH PROVED EFFICACY AND COST- EFFECTIVENESS SHOULD BECOME CITIZENS’RIGHTS
SLIDE 6 FROM THE EVALUATION TO THE EVALUATION FOR MANAGEMENT AND DELIVERY
[…] HTA TA has as evolved through thre ree di distinc nct phases ses: th the machi hine, the he clin linic ical
comes, an and the he de delive very mo mode dels, with th the he third of
ese st still unde nder way
As th the fo focus has as sh shifted ed fro rom a sin ingle le machi hine ne to to choos
mong ng int nterve vent ntions fo for spe pecifi fic dise sease se con
to to ser service deliv livery ry app pproac ache hes, HTA TA has as drawn on
research and nd modes es of
discour urse fro rom a gro rowing variet ety of
Batt ttista, 2006 2006
SLIDE 7 29 tools published between 2000 and 2017 (USA n.12, Canada n.4, Europe n.9, Australia n.2, International n.2). They are mostly based on the ACCE model (n.13 tools) and on the HTA model (n.6 tools) or both (n.2 tools). 17 tools address all types of genetic test, while the others take into account a specific type of genetic test (newborn screening, predictive genetic tests, genetic susceptibility tests).
SLIDE 8 RESULTS - Evaluation components and methodological aspects
Most used evaluation criteria are analytic and clinical validity, clinical utility and ethical, legal and social implications. The economic dimension is always considered even if in little detail. Attention for delivery models,
aspects and consumer’s point of view is often lacking. Only few models highlight research priorities or criteria to recommend the use of the test.
SLIDE 9
GENETIC TESTS EVALUATION FRAMEWORK
Overall structure
Section I – The genetic test Overview of the test and the clinical condition Analytic validity Clinical validity Clinical utility Personal utility Section II – Delivery of the genetic test Overview of the delivery programs Organizational aspects Economic evaluation Ethical, legal and social implications Patient’s/individual’s point of view Section III – Research priorities Section IV – Criteria to establish recommendations on the use of the genetic test Net benefit of the delivery program Cost-effectiveness of the delivery program Organizational and feasibility aspects
SLIDE 10 Target population Genetic counseling
Genetic test
Diagnosis of carrier status Health care pathway based
status
GENETIC TEST vs vs GENETIC TEST PROGRAM
Genetic test program = Health care program including the genetic test
SLIDE 11
GENETIC TESTING PROGRAMS
SLIDE 12
DELIVERY MODELS Definition
THE B BROAD C CON ONTEXT W WIT ITHIN IN THE PH PHG F FRAMEWOR ORK IN IN WHIC ICH GENETIC IC SERVIC ICES A ARE OF OFFERED T TO O IN INDIV IVID IDUALS AND FAMIL ILIE IES WIT ITH OR OR A AT R RIS ISK OF OF G GENETIC IC DIS ISOR ORDERS In other words, a genetic delivery model is a combination of personal healthcare services provided by healthcare professionals to individuals and families (i.e., diagnosis, treatment/management, and information) and PH services and functions (i.e., population screening, financing, policy development, workforce education, information/citizen empowerment, service evaluation, and research).
SLIDE 13
DELIVERY MODELS FOR GENETIC TESTS (I)
SLIDE 14
SLIDE 15 OUR CLASSIFICATION
Virtual clinic
SLIDE 16 DELIVERY MODELS IDENTIFIED IN THE LITERATURE
BRCA1/2 Lynch syndrome Familial hypercholesterolemia
MODEL I: Genetic services led by geneticists MODEL II: Primary care model MODEL III: Medical specialists model MODEL IV: Genetic services integrated into population screening programs MODEL V: Direct-to-consumer (DTC) model
SLIDE 17 IMPLEMENTATION ISSUES PHARMACOGENETICS vs vs PREDICTIVE GENETIC TESTS
PHARMACOGENETICS PREDICTIVE GENETIC TESTS Treatments Health promotion Preventive measures Public health services
PROFESSIONALS
- TRAINING
- GUIDELINES
- LABS
- HEALTH CARE INTERVENTIONS
SLIDE 18 BARRIERS TO IMPLEMENTATION: THE EUPHA SURVEY
Why this survey?
- 2003 Human Genome Project
debate on the utility of genomic science for public health purposes
- Public health genomics (PHG): diverting resources or providing useful
prevention opportunities? Aim of the survey To assess the attitudes of European Public Health (PH) professionals belonging to EUPHA network regarding their role in the implementation of PHG, and their knowledge and attitudes regarding genetic testing and the delivery of genetic services.
SLIDE 19 RESPONDENTS
81 14 21 11 2 26 21 21 1 12 19 30 25 13 1 4 3 4 12 2 4 5 4 3 3 1 11 3 2 7 19 15
493 Respondents 382 Completed the survey
+44 non EU
CHARACTERISTICS N (%) Gender Female Male 245 (56.2) 191 (43.8) Age 25-40 41-55 56-75 120(29.7) 179 (41.1) 127 (29.2) Type of health professional PH professional not involved in PHG PH professional involved in PHG Not PH professional not involved in PHG Not PH professional involved in PHG 153 (75.0) 26 (12.7) 22 (10.8) 3 (1.5) Area of degree Medicine Health professions (e.g nursing) Biology Public health Other (e.g. statistics, political sciences) 212 (50.5) 35 (8.3) 27 (6.4) 56 (13.3) 90 (21.4) Sector of work Academic Hospital Government (national or local) Public health service Other (e.g. NGO, technical agency) 322(65.3) 22 (4.4) 74(15.0) 33 (6.7) 42 (8.5) Information on genetic screening in undergraduate training Yes No 182 (43.4) 237 (56.6) Information on genetic screening in postgraduate training Yes No Not applicable 184 (47.1) 198 (43.8) 38 (9.1)
SLIDE 20 RESULTS
- The analysis shows a low level of knowledge on PHG among EUPHA members,
while attitudes on the use of genetic testing and genetic services and on the possible roles of PH professionals in PHG are generally positive
- Positive attitudes are associated with higher level of knowledge and younger age
- Ini
niti tiati tives to to in increas ase cul ultur ture on
HG amo among EUPH UPHA me memb mbers may ay contr tribut bute to to fo fostering the the inc ncorpo porati tion of
mic appl pplicati tions ns in in PH PH ac activ ivit itie ies
SLIDE 21 CONCLUSIONS
- Genetic/genomic applications:
inappropriate use vs vs citizens’ rights
- Need of an Health Technology Assessment approach
- Systematic reviews of economic evaluations are
important
- Culture and training are strategic
SLIDE 22
