Publication
The Australian Genetic Heart Disease Registry: Protocol for a Data Linkage Study (Preprint)
Publisher:
JMIR Publications Inc.
Date:
05-2023
DOI:
10.2196/PREPRINTS.48636
Abstract: enetic heart diseases such as hypertrophic cardiomyopathy can cause significant morbidity and mortality, ranging from syncope, chest pain and palpitations to heart failure and sudden cardiac death. These diseases are inherited in an autosomal dominant fashion, meaning family members of affected in iduals have a one in two chance of also inheriting the disease (‘at-risk relatives’). The healthcare utilisation patterns of in iduals with a genetic heart disease including emergency department presentations and hospital admissions, are poorly understood. By linking genetic heart disease registry data to routinely collected health data we aim to provide a more comprehensive clinical dataset to examine the burden of disease on in iduals, families and healthcare systems. he objective of this study is to link the Australian Genetic Heart Disease (AGHD) Registry with routinely collected whole-population health datasets to investigate the healthcare utilisation of in iduals with a genetic heart disease and their at-risk relatives. This linked dataset will allow for investigation of differences in outcomes and healthcare utilisation due to disease, sex, socioeconomic status and other factors. he AGHD Registry is a nationwide dataset which began in 2007 and aims to recruit in iduals with a genetic heart disease and their family members. In this study, demographic, clinical, and genetic data (available 2007-2019) for AGHD Registry participants and at-risk relatives residing in New South Wales (NSW) Australia, were linked to routinely collected health data. These data included NSW based datasets covering hospitalisations (2001-2019) and emergency department presentations (2005-2019), and both state-wide and national mortality registries (2007-2019). The linkage was performed by the Centre for Health Record Linkage (CHeReL). Investigations stratifying by diagnosis, age, sex, socioeconomic status and gene status will be undertaken and reported using descriptive statistics. SW 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. e intend to provide insights into the healthcare utilisation patterns of in iduals with a genetic heart disease and their at-risk relatives, including frequency of hospital admissions and differences due to factors such as disease, sex and socioeconomic status. Identifying disparities and potential barriers to care may highlight specific healthcare needs (e.g. between sexes) and factors impacting healthcare access and utilisation. > ERR1-10.2196/48636