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Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature
Background: The provision of genetic services, along with research in the fields of genomics and genetics, has evolved in recent years to meet the increasing demand of consumers interested in prediction of genetic diseases and various inherited traits. The aim of this study is to evaluate genetic se...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593087/ https://www.ncbi.nlm.nih.gov/pubmed/31275354 http://dx.doi.org/10.3389/fgene.2019.00552 |
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author | Unim, Brigid Pitini, Erica Lagerberg, Tyra Adamo, Giovanna De Vito, Corrado Marzuillo, Carolina Villari, Paolo |
author_facet | Unim, Brigid Pitini, Erica Lagerberg, Tyra Adamo, Giovanna De Vito, Corrado Marzuillo, Carolina Villari, Paolo |
author_sort | Unim, Brigid |
collection | PubMed |
description | Background: The provision of genetic services, along with research in the fields of genomics and genetics, has evolved in recent years to meet the increasing demand of consumers interested in prediction of genetic diseases and various inherited traits. The aim of this study is to evaluate genetic services in order to identify and classify delivery models for the provision of genetic testing in European and in extra-European countries. Methods: A systematic review of the literature was conducted using five electronic resources. Inclusion criteria were that studies be published in English or Italian during the period 2000–2015 and carried out in European or extra-European countries (Canada, USA, Australia, or New Zealand). Results: 148 genetic programs were identified in 117 articles and were delivered mostly in the UK (59, 40%), USA (35, 24%) or Australia (16, 11%). The programs were available nationally (66; 45%), regionally (49; 33%) or in urban areas (21, 14%). Ninety-six (64%) of the programs were integrated into healthcare systems, 48 (32.21%) were pilot programs and five (3%) were direct-to-consumer genetic services. The genetic tests offered were mainly for BRCA1/2 (59, 40%), Lynch syndrome (23, 16%), and newborn screening (18, 12%). Healthcare professionals with different backgrounds are increasingly engaged in the provision of genetic services. Based on which healthcare professionals have prominent roles in the respective patient care pathways, genetic programs were classified into five models: (i) the geneticists model; (ii) the primary care model; (iii) the medical specialist model; (iv) the population screening programs model; and (v) the direct-to-consumer model. Conclusions: New models of genetic service delivery are currently under development worldwide to address the increasing demand for accessible and affordable services. These models require the integration of genetics into all medical specialties, collaboration among different healthcare professionals, and the redistribution of professional roles. An appropriate model for genetic service provision in a specific setting should ideally be defined according to the type of healthcare system, the genetic test provided within a genetic program, and the cost-effectiveness of the intervention. Only applications with proven efficacy and cost-effectiveness should be implemented in healthcare systems and made available to all citizens. |
format | Online Article Text |
id | pubmed-6593087 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-65930872019-07-03 Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature Unim, Brigid Pitini, Erica Lagerberg, Tyra Adamo, Giovanna De Vito, Corrado Marzuillo, Carolina Villari, Paolo Front Genet Genetics Background: The provision of genetic services, along with research in the fields of genomics and genetics, has evolved in recent years to meet the increasing demand of consumers interested in prediction of genetic diseases and various inherited traits. The aim of this study is to evaluate genetic services in order to identify and classify delivery models for the provision of genetic testing in European and in extra-European countries. Methods: A systematic review of the literature was conducted using five electronic resources. Inclusion criteria were that studies be published in English or Italian during the period 2000–2015 and carried out in European or extra-European countries (Canada, USA, Australia, or New Zealand). Results: 148 genetic programs were identified in 117 articles and were delivered mostly in the UK (59, 40%), USA (35, 24%) or Australia (16, 11%). The programs were available nationally (66; 45%), regionally (49; 33%) or in urban areas (21, 14%). Ninety-six (64%) of the programs were integrated into healthcare systems, 48 (32.21%) were pilot programs and five (3%) were direct-to-consumer genetic services. The genetic tests offered were mainly for BRCA1/2 (59, 40%), Lynch syndrome (23, 16%), and newborn screening (18, 12%). Healthcare professionals with different backgrounds are increasingly engaged in the provision of genetic services. Based on which healthcare professionals have prominent roles in the respective patient care pathways, genetic programs were classified into five models: (i) the geneticists model; (ii) the primary care model; (iii) the medical specialist model; (iv) the population screening programs model; and (v) the direct-to-consumer model. Conclusions: New models of genetic service delivery are currently under development worldwide to address the increasing demand for accessible and affordable services. These models require the integration of genetics into all medical specialties, collaboration among different healthcare professionals, and the redistribution of professional roles. An appropriate model for genetic service provision in a specific setting should ideally be defined according to the type of healthcare system, the genetic test provided within a genetic program, and the cost-effectiveness of the intervention. Only applications with proven efficacy and cost-effectiveness should be implemented in healthcare systems and made available to all citizens. Frontiers Media S.A. 2019-06-19 /pmc/articles/PMC6593087/ /pubmed/31275354 http://dx.doi.org/10.3389/fgene.2019.00552 Text en Copyright © 2019 Unim, Pitini, Lagerberg, Adamo, De Vito, Marzuillo and Villari. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Unim, Brigid Pitini, Erica Lagerberg, Tyra Adamo, Giovanna De Vito, Corrado Marzuillo, Carolina Villari, Paolo Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature |
title | Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature |
title_full | Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature |
title_fullStr | Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature |
title_full_unstemmed | Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature |
title_short | Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature |
title_sort | current genetic service delivery models for the provision of genetic testing in europe: a systematic review of the literature |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593087/ https://www.ncbi.nlm.nih.gov/pubmed/31275354 http://dx.doi.org/10.3389/fgene.2019.00552 |
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