Garrahy, Edward, Heal, Clare, Hespe, Charlotte, Radford, Jan, Watts, Gerald, and Brett, Tom (2020) Familial hypercholesterolaemia and cascade testing in general practice: lessons from COVID-19. Australian Journal of General Practice, 49 (12). pp. 859-860.

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Abstract

The COVID-19 pandemic highlights the key role of general practice in Australian health service delivery, especially for our most vulnerable patients.1 While terms such as ‘index case’ (defined as the first identified case in a group of related cases of a particular communicable or heritable disease) and ‘cascade testing’ (the extension of genetic testing to individuals at risk of inheriting a pathogenic variant previously identified in a biological relative) have long been associated with genetic testing for hereditary conditions among families, the recent increased public awareness of and experience with epidemiological concepts such as contact tracing offers new potential to improve detection and management of familial hypercholesterolaemia (FH) in the community.

On 1 May 2020, new Medicare Benefits Schedule (MBS) item numbers relating to genetic testing for FH were introduced in Australia,2 offering a timely opportunity for general practice to collaborate with lipid specialists to facilitate improved detection and management. While an infectious disease such as COVID-19 cannot be directly compared with inherited conditions such as FH, lessons learned from the pandemic and developments in remote consulting can be applied to the management of FH.

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