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Accepted for/Published in: JMIR Research Protocols

Date Submitted: May 1, 2023
Date Accepted: Jul 26, 2023

The final, peer-reviewed published version of this preprint can be found here:

The Australian Genetic Heart Disease Registry: Protocol for a Data Linkage Study

Butters A, Blanch B, Kemp-Casey A, Do J, Yeates L, Leslie F, Semsarian C, Nedkoff L, Briffa T, Ingles J, Sweeting J

The Australian Genetic Heart Disease Registry: Protocol for a Data Linkage Study

JMIR Res Protoc 2023;12:e48636

DOI: 10.2196/48636

PMID: 37728963

PMCID: 10551791

Warning: This is an author submission that is not peer-reviewed or edited. Preprints - unless they show as "accepted" - should not be relied on to guide clinical practice or health-related behavior and should not be reported in news media as established information.

The Australian Genetic Heart Disease Registry: Data Linkage Study Protocol

  • Alexandra Butters; 
  • Bianca Blanch; 
  • Anna Kemp-Casey; 
  • Judy Do; 
  • Laura Yeates; 
  • Felicity Leslie; 
  • Christopher Semsarian; 
  • Lee Nedkoff; 
  • Tom Briffa; 
  • Jodie Ingles; 
  • Joanna Sweeting

ABSTRACT

Background:

Genetic heart diseases cause significant morbidity and mortality, ranging from syncope, chest pain and palpitations to heart failure and sudden cardiac death. However, the healthcare utilisation patterns of individuals with a genetic heart disease are poorly understood. Linking disease registry data to routinely collected health data can provide a more comprehensive clinical dataset.

Objective:

We sought to link the Australian Genetic Heart Disease (AGHD) Registry with routinely collected whole-population health datasets to investigate the healthcare utilisation of individuals with a genetic heart disease and their at-risk relatives.

Methods:

Demographic, clinical, and genetic data (available 2007-2019) for AGHD Registry participants and at-risk relatives residing in NSW were linked to NSW based datasets covering hospitalisations (2001-2019) and emergency department presentations (2005-2019), and both state-wide and national mortality registries (2007-2019) by the Centre for Health Record Linkage (CHeReL). Investigations stratified by diagnosis, age, sex, socioeconomic status and gene status will be undertaken and reported using descriptive statistics.

Results:

NSW AGHD Registry participants were linked to routinely collected health datasets using probabilistic matching (November 2019). Of 1720 AGHD Registry participants, 1384 had linkages with 11,610 hospital records, 7032 emergency department records and 60 death records. Data assessment and harmonisation were performed, and descriptive data analysis is underway.

Conclusions:

We intend to provide insights into the healthcare utilisation patterns of individuals with a genetic heart disease and their at-risk relatives. Identifying reasons for hospitalisation/emergency department presentation may reveal disparities and opportunities for preventive care.


 Citation

Please cite as:

Butters A, Blanch B, Kemp-Casey A, Do J, Yeates L, Leslie F, Semsarian C, Nedkoff L, Briffa T, Ingles J, Sweeting J

The Australian Genetic Heart Disease Registry: Protocol for a Data Linkage Study

JMIR Res Protoc 2023;12:e48636

DOI: 10.2196/48636

PMID: 37728963

PMCID: 10551791

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