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 The PRECeDI project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 645740.
PRECeDI Recomendations 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 The PRECeDI project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 645740.
PRECeDI Recomendations Domain 2 EVALUATION Domain 5 IM IMPLEMENTATIO ION The PRECeDI project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 645740.
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 of geno nome-ba based k kno nowledg dge a and nd techno hnologies t to impr prove ve po population he health ” (Bellagio As g s gen enome-based sed r resea earch g gener erates n es new i idea eas for healthcare Statement, 2006) 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 of kno 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 out utcomes, bo both he h health-related a and nd social, of ne new geno nome ba based d applications. In In the he absenc nce o of a r robus bust evalua uation s strategy, a a trial-an and-error or p proc ocess of of innov ovation on oc occurs. 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 of risk kno nowledge i in n the he absenc nce of pr prove ven be benefit. T . 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 or impl plemented ha hapha phazardl dly Burke, 2006
INAPPROPRIATE USE vs s CITIZENS’ RIGHTS GENETIC/GENOMIC GENETIC/GENOMIC APPLICATIONS SHOULD BE APPLICATIONS WITH PROVED EVALUATED RIGOROUSLY EFFICACY AND COST- BEFORE ENTERING INTO EFFECTIVENESS SHOULD CLINICAL AND PUBLIC HEALTH BECOME CITIZENS’RIGHTS PRACTICE
FROM THE EVALUATION TO THE EVALUATION FOR MANAGEMENT AND DELIVERY […] HTA TA has as evolved through thre ree di distinc nct phases ses: the th machi hine, the he clin linic ical outco comes, an and the he de delive very mo mode dels, with th the he third of of these ese st still unde nder way ay. As As th the fo focus has as sh shifted ed fro rom a sin ingle le machi hine ne to to choos oosing amo mong ng int nterve vent ntions fo for spe pecifi fic dise sease se con ondition ons to to ser service deliv livery ry app pproac ache hes, HTA TA has as drawn on on re research and nd modes es of of di discour urse fro rom a gro rowing variet ety of of disciplines […] Batt ttista, 2006 2006
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).
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, organizational 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.
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
GENETIC TEST vs vs GENETIC TEST PROGRAM Genetic test program = Health care program including the genetic test Health care Genetic Genetic Diagnosis of pathway based Target counseling test carrier status on carrier population status
GENETIC TESTING PROGRAMS
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).
DELIVERY MODELS FOR GENETIC TESTS (I)
OUR CLASSIFICATION Virtual clinic
DELIVERY MODELS IDENTIFIED IN THE LITERATURE Familial BRCA1/2 Lynch syndrome 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
IMPLEMENTATION ISSUES PHARMACOGENETICS vs vs PREDICTIVE GENETIC TESTS PREDICTIVE GENETIC TESTS PHARMACOGENETICS Treatments Health promotion Preventive measures Public health services PHYSICIANS AND OTHER PHG • PROFESSIONALS TRAINING • GUIDELINES • LABS • HEALTH CARE INTERVENTIONS •
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.
RESPONDENTS 493 Respondents CHARACTERISTICS N (%) Gender Female 245 (56.2) 382 Completed the survey Male 191 (43.8) Age 25-40 120(29.7) 41-55 179 (41.1) 56-75 127 (29.2) Type of health professional 7 PH professional not involved in PHG 153 (75.0) PH professional involved in PHG 26 (12.7) Not PH professional not involved in PHG 22 (10.8) 19 Not PH professional involved in PHG 3 (1.5) 15 Area of degree Medicine 212 (50.5) 2 Health professions (e.g nursing) 35 (8.3) Biology 27 (6.4) 3 30 Public health 56 (13.3) 4 Other (e.g. statistics, political sciences) 90 (21.4) 26 Sector of work 19 2 Academic 322(65.3) 21 4 Hospital 22 (4.4) 21 1 Government (national or local) 74(15.0) 5 Public health service 33 (6.7) 13 Other (e.g. NGO, technical agency) 42 (8.5) 3 25 4 Information on genetic screening in undergraduate training 11 2 1 11 3 Yes 182 (43.4) 4 81 No 237 (56.6) 12 Information on genetic screening in postgraduate training 1 Yes 184 (47.1) No 198 (43.8) 14 3 21 Not applicable 38 (9.1) 12 +44 non EU
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 on PHG HG amo among EUPH UPHA me memb mbers may ay contr tribut bute to to fo fostering the the inc ncorpo porati tion of of genomic mic appl pplicati tions ns in in PH PH ac activ ivit itie ies
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
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