Process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia (FH), an autosomal dominant, fully penetrant disorder
Introduction Advances in clinical genomics have raised the importance of integrating genomic medicine across healthcare systems, including primary care. Primary care presents an ideal environment to offer equitable and efficient access to genetic services. Familial hypercholesterolaemia (FH) is a pr...
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BMJ Publishing Group
2025-08-01
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| Series: | Family Medicine and Community Health |
| Online Access: | https://fmch.bmj.com/content/13/3/e003258.full |
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| author | Bridie Carr David Sullivan Gabrielle Fleming Cameron Hemmert Claire Trumble Catherine Spinks Shubha Srinivasan Madeline Calder Ronald Trent Karen L Birkenhead Kerrie Martin Charlotte M Hespe Mitchell Sarkies |
| author_facet | Bridie Carr David Sullivan Gabrielle Fleming Cameron Hemmert Claire Trumble Catherine Spinks Shubha Srinivasan Madeline Calder Ronald Trent Karen L Birkenhead Kerrie Martin Charlotte M Hespe Mitchell Sarkies |
| author_sort | Bridie Carr |
| collection | DOAJ |
| description | Introduction Advances in clinical genomics have raised the importance of integrating genomic medicine across healthcare systems, including primary care. Primary care presents an ideal environment to offer equitable and efficient access to genetic services. Familial hypercholesterolaemia (FH) is a preventable and treatable cause of premature heart disease and represents a health condition that can be successfully diagnosed and managed in primary care. This study describes a process for tailoring a primary-tertiary shared care model for FH to optimise health professional and patient engagement.Methods Data were collected through semistructured interviews (n=10) with stakeholders in New South Wales, Australia. Interviews gathered feedback on how to tailor a shared care model for FH between tertiary and primary care services. Reflexive thematic analysis was used to analyse interview transcripts.Results Analysis generated three main themes: (1) current process for genetic testing and management, (2) challenges with genetic testing for FH in primary care and (3) components needed to enable a tertiary-initiated shared care model. Participants considered the model of care acceptable and could be successfully implemented, provided key supports were in place to assist general practitioners. Based on these results, a process model for integrating genetic testing for other conditions into primary care settings was developed, using FH as an exemplar.Conclusion The process model for tailoring of a primary-tertiary model of care for FH can be applied across a range of primary care services and treatable genetic conditions. |
| format | Article |
| id | doaj-art-a3a8aeebba364f44b7837d8a9e51a9c4 |
| institution | Kabale University |
| issn | 2305-6983 2009-8774 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | Family Medicine and Community Health |
| spelling | doaj-art-a3a8aeebba364f44b7837d8a9e51a9c42025-08-20T04:01:00ZengBMJ Publishing GroupFamily Medicine and Community Health2305-69832009-87742025-08-0113310.1136/fmch-2024-003258Process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia (FH), an autosomal dominant, fully penetrant disorderBridie Carr0David Sullivan1Gabrielle Fleming2Cameron Hemmert3Claire Trumble4Catherine Spinks5Shubha Srinivasan6Madeline Calder7Ronald Trent8Karen L Birkenhead9Kerrie Martin10Charlotte M Hespe11Mitchell Sarkies12Cardiac Network, Agency for Clinical Innovation, Sydney, New South Wales, AustraliaDepartment of Chemical Pathology, Royal Prince Alfred Hospital, Sydney, New South Wales, AustraliaInstitute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, AustraliaSchool of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, AustraliaInstitute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, AustraliaInstitute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, AustraliaInstitute of Endocrinology and Diabetes, The Children’s Hospital at Westmead, Sydney, New South Wales, AustraliaInstitute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, AustraliaInstitute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, AustraliaSchool of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, AustraliaClinical Genetics Network and Ophthalmology Network, Agency for Clinical Innovation, Sydney, New South Wales, AustraliaSchool of Medicine, University of Notre Dame Australia, Sydney, New South Wales, AustraliaSchool of Health Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, AustraliaIntroduction Advances in clinical genomics have raised the importance of integrating genomic medicine across healthcare systems, including primary care. Primary care presents an ideal environment to offer equitable and efficient access to genetic services. Familial hypercholesterolaemia (FH) is a preventable and treatable cause of premature heart disease and represents a health condition that can be successfully diagnosed and managed in primary care. This study describes a process for tailoring a primary-tertiary shared care model for FH to optimise health professional and patient engagement.Methods Data were collected through semistructured interviews (n=10) with stakeholders in New South Wales, Australia. Interviews gathered feedback on how to tailor a shared care model for FH between tertiary and primary care services. Reflexive thematic analysis was used to analyse interview transcripts.Results Analysis generated three main themes: (1) current process for genetic testing and management, (2) challenges with genetic testing for FH in primary care and (3) components needed to enable a tertiary-initiated shared care model. Participants considered the model of care acceptable and could be successfully implemented, provided key supports were in place to assist general practitioners. Based on these results, a process model for integrating genetic testing for other conditions into primary care settings was developed, using FH as an exemplar.Conclusion The process model for tailoring of a primary-tertiary model of care for FH can be applied across a range of primary care services and treatable genetic conditions.https://fmch.bmj.com/content/13/3/e003258.full |
| spellingShingle | Bridie Carr David Sullivan Gabrielle Fleming Cameron Hemmert Claire Trumble Catherine Spinks Shubha Srinivasan Madeline Calder Ronald Trent Karen L Birkenhead Kerrie Martin Charlotte M Hespe Mitchell Sarkies Process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia (FH), an autosomal dominant, fully penetrant disorder Family Medicine and Community Health |
| title | Process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia (FH), an autosomal dominant, fully penetrant disorder |
| title_full | Process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia (FH), an autosomal dominant, fully penetrant disorder |
| title_fullStr | Process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia (FH), an autosomal dominant, fully penetrant disorder |
| title_full_unstemmed | Process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia (FH), an autosomal dominant, fully penetrant disorder |
| title_short | Process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia (FH), an autosomal dominant, fully penetrant disorder |
| title_sort | process for mainstreaming genetic cascade testing into primary and tertiary health systems in familial hypercholesterolaemia fh an autosomal dominant fully penetrant disorder |
| url | https://fmch.bmj.com/content/13/3/e003258.full |
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