Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands

Vrijenhoek, Terry; Tõnisson, Neeme; Kääriäinen, Helena; Leitsalu, Liis; Rigter, Tessel

doi:10.1007/s12687-021-00514-7

Cited by 11 publications

(18 citation statements)

References 83 publications

(48 reference statements)

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“…Mainstreaming of genetic testing is the inevitable consequence. However, the inherent risks of misinterpretation of complex genomic data are evident even for HCPs with formal clinical genetics training and extensive genomic experience [ 44 ]. Clinical Geneticists and Genetic Counsellors have a central role in education of non-Genetics HCPs to promote the safe delivery of genomic medicine [ 45 ].…”

Section: Discussionmentioning

confidence: 99%

Designing rare disease care pathways in the Republic of Ireland: a co-operative model

Ward

Murphy

Marron

et al. 2022

Orphanet J Rare Dis

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Background Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical specialists and health and social care professionals involving a high level of integrated care, service coordination and specified care pathways. Methods and objectives This pilot study aimed to explore the best approach for developing national RD care pathways in the Irish healthcare system in the context of a lack of agreed methodology. Irish clinical specialists and patient/lived experience experts were asked to map existing practice against evidence-based clinical practice guidelines (CPGs) and best practice recommendations from the European Reference Networks (ERNs) to develop optimal care pathways. The study focused on the more prevalent, multisystemic rare conditions that require multidisciplinary care, services, supports and therapeutic interventions. Results 29 rare conditions were selected across 18 ERNs, for care pathway development. Multidisciplinary input from multiple specialisms was relevant for all pathways. A high level of engagement was experienced from clinical leads and patient organisations. CPGs were identified for 26 of the conditions. Nurse specialist, Psychology, Medical Social Work and Database Manager roles were deemed essential for all care pathways. Access to the therapeutic Health Service Professionals: Physiotherapy, Occupational Therapy, and Speech and Language Therapy were seen as key requirements for holistic care. Genetic counselling was highlighted as a core discipline in 27 pathways demonstrating the importance of access to Clinical Genetics services for many people with RDs. Conclusions This study proposes a methodology for Irish RD care pathway development, in collaboration with patient/service user advocates. Common RD patient needs and health care professional interventions across all pathways were identified. Key RD stakeholders have endorsed this national care pathway initiative. Future research focused on the implementation of such care pathways is a priority.

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Section: Discussionmentioning

confidence: 99%

Designing rare disease care pathways in the Republic of Ireland: a co-operative model

Ward

Murphy

Marron

et al. 2022

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Mainstreaming of genetic testing is the inevitable consequence. However, the inherent risks of misinterpretation of complex genomic data are evident even for HCPs with formal clinical genetics training and extensive genomic experience (44). Clinical Geneticists and Genetic Counsellors have a central role in education of non-Genetics HCPs to promote the safe delivery of genomic medicine (45).…”

Section: Provision Of Genetic Servicesmentioning

confidence: 99%

Designing Rare Disease Care Pathways in the Republic of Ireland – A Co-operative Model

Ward

Murphy

Marron

et al. 2022

Preprint

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Background: Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical specialists and health and social care professionals (HSCPs) involving a high level of integrated care, service coordination and specified care pathways.Methods and Objectives: This pilot study aimed to explore the best approach for developing national RD care pathways in the Irish healthcare system in the context of a lack of agreed methodology. Irish clinical specialists and patient/lived experience experts were asked to map existing practice against evidence-based Clinical Practice Guidelines (CPGs) and best practice recommendations from the European Reference Networks (ERNs) to develop optimal care pathways. The study focused on the more prevalent, multisystemic rare conditions that require multidisciplinary care, services, supports and therapeutic interventions. Results: 29 rare conditions were selected across 18 ERNs, for care pathway development. Multidisciplinary input from multiple specialisms was relevant for all pathways. A high level of engagement was experienced from clinical leads and patient organisations. CPGs were identified for 26 of the conditions. Nurse specialist, Psychology, Medical Social Work and Database Manager roles were deemed essential for all care pathways. Access to the therapeutic Health Service Professionals: Physiotherapy, Occupational Therapy, and Speech and Language Therapy were seen as key requirements for holistic care. Genetic counselling was highlighted as a core discipline in 27 pathways demonstrating the importance of access to Clinical Genetics services for many people with RDs. Conclusions: This study proposes a methodology for Irish RD care pathway development, in collaboration with patient/service user advocates. Common RD patient needs and health care professional interventions across all pathways were identified. Key RD stakeholders have endorsed this national care pathway initiative. Future research focused on the implementation of such care pathways is a priority.

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“…The studies were independently filtered by title and abstract by both authors, yielding 115 potentially relevant studies. After the peers filtered the studies by full text, 19 full-text studies were ultimately included (11,12,(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39). It should be noted that only one study was found that met the inclusion criteria from the secondary and complementary research (24).…”

Section: Resultsmentioning

confidence: 99%

An innovative framework to determine the implementation level of personalized medicine: A systematic review

Aguilera-Cobos

García‐Sanz²,

Rosario-Lozano³

et al. 2023

Front. Public Health

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BackgroundPersonalized medicine (PM) is now the new frontier in patient care. The application of this new paradigm extends to various pathologies and different patient care phases, such as diagnosis and treatment. Translating biotechnological advances to clinical routine means adapting health services at all levels is necessary.PurposeThis article aims to identify the elements for devising a framework that will allow the level of PM implementation in the country under study to be quantitatively and qualitatively assessed and that can be used as a guideline for future implementation plans.MethodsA systematic review was conducted per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. The research question was: What are the domains for determining the level of implementation of PM at the national level? The domains for assessing the degree of PM implementation, which would form the framework, were established.Results19 full-text studies that met the inclusion criteria were peer-selected in the systematic review. From all the studies that were included, 37 elements—encompassed in 11 domains—were extracted for determining the degree of PM implementation. These domains and their constituent elements comprise the qualitative and quantitative assessment framework presented herein. Each of the elements can be assessed individually. On the other hand, the domains were standardized to all have the same weight in an overall assessment.ConclusionsA framework has been developed that takes a multi-factorial approach to determine the degree of implementation of PM at the national level. This framework could also be used to rank countries and their implementation strategies according to the score they receive in the application of the latter. It could also be used as a guide for developing future national PM implementation strategies.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42022338611, Identifier: CRD42022338611.

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Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands

Cited by 11 publications

References 83 publications

Designing rare disease care pathways in the Republic of Ireland: a co-operative model

Designing rare disease care pathways in the Republic of Ireland: a co-operative model

Designing Rare Disease Care Pathways in the Republic of Ireland – A Co-operative Model

An innovative framework to determine the implementation level of personalized medicine: A systematic review

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