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New research could uncover genetic ticking time bomb for thousands of Australians with undiagnosed condition

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27th September, 2022

A new research project is aiming to get more family GPs involved in genetic medicine, which researchers hope will help thousands of Australians with an undiagnosed lipid disorder that greatly increases their risk of cardiovascular disease.

Researchers at NSW Health Pathol­o­gy have been giv­en a grant to imple­ment a shared-care mod­el for scal­ing up genet­ic med­i­cine and get more fam­i­ly gen­er­al prac­ti­tion­ers involved in genetics.

The research will tar­get a con­di­tion that mas­sive­ly increas­es the risk of car­dio­vas­cu­lar disease.

Car­dio­vas­cu­lar dis­ease was the under­ly­ing cause of over 42,000 deaths in Aus­tralia in 2019. It was also behind the hos­pi­tal­i­sa­tion of 591,000 Aus­tralians in 2018–19, a stag­ger­ing 5.2% of all hospitalisations.

Chief Inves­ti­ga­tor, Asso­ciate Pro­fes­sor David Sul­li­van said the research will imple­ment a gen­er­al prac­tice and med­ical spe­cial­ist shared-care mod­el for genet­ic med­i­cine to improve the detec­tion of famil­ial hyper­c­ho­les­terolemia (FH).

“FH rep­re­sents an exem­plary Tier 1 con­di­tion for the imple­men­ta­tion and scal­ing of genet­ic med­i­cine,” A/Prof Sul­li­van said.

“Few­er than 10 per­cent of the more than 50,000 peo­ple in NSW at risk of FH have been iden­ti­fied, which is con­cern­ing as it increas­es their risk of car­dio­vas­cu­lar dis­ease by more than 100-fold in younger age groups.

“If untreat­ed, it advances the onset of car­dio­vas­cu­lar dis­ease by 20 to 40 years.”

While the ben­e­fits of detect­ing FH through genet­ic test­ing and cas­cade screen­ing are well estab­lished, the ide­al mod­el for imple­men­ta­tion at scale in Aus­tralia has not yet been established.

“FH is too com­mon to rely on ter­tiary refer­ral cen­tres to man­age all patients, espe­cial­ly for those with only rou­tine man­age­ment needs,” said A/Prof Sul­li­van. The research project will deter­mine how exist­ing ter­tiary health ser­vices can sup­port the deliv­ery of genet­ic med­i­cine at scale.

The project will assess the appro­pri­ate­ness and fea­si­bil­i­ty of the shared-care mod­el and a health eco­nom­ics study will be con­duct­ed, includ­ing mea­sur­ing the num­ber of peo­ple test­ed for and detect­ed with FH.

Researchers will be seek­ing to under­stand the bar­ri­ers and enablers to imple­men­ta­tion before tai­lor­ing the mod­el and imple­men­ta­tion strat­e­gy sup­port pack­age for local clin­i­cian and patient needs.

The research has been fund­ed under the NSW Trans­la­tion­al Research Grants Scheme which funds projects that will trans­late into bet­ter patient out­comes, health ser­vice deliv­ery, and pop­u­la­tion health and wellbeing.


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