Familial hypercholesterolaemia and cascade testing in general practice: lessons from COVID-19

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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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.

Item ID: 65969
Item Type: Article (Commentary)
ISSN: 2208-7958
Copyright Information: © The Royal Australian College of General Practitioners 2020.
Date Deposited: 24 Feb 2021 00:29
FoR Codes: 42 HEALTH SCIENCES > 4206 Public health > 420605 Preventative health care @ 100%
SEO Codes: 20 HEALTH > 2004 Public health (excl. specific population health) > 200499 Public health (excl. specific population health) not elsewhere classified @ 100%
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