Clinical Genomics

Genomics is the study of all of a person’s genes (the genome). It has the poten­tial to reshape clin­i­cal prac­tice and to fun­da­men­tal­ly change the way we pre­vent, diag­nose, treat and mon­i­tor illness.

Cur­rent Projects

Dig­i­tal Con­sent for Genet­ic Screening

We are pilot­ing an online patient jour­ney path­way incor­po­rat­ing dig­i­tal con­sent, sup­port­ed by an infor­ma­tion­al ani­mat­ed video and oth­er resources, in both the adult and pae­di­atric genet­ic ser­vices. This aims to pro­vide con­sumers and their fam­i­lies more time to con­sid­er the impli­ca­tions of genet­ic test­ing and to allow for more informed consent.

Genomics Clin­i­cal Pri­ori­ti­sa­tion Criteria

Part­ner­ing with the Depart­ment for Health and Well­be­ing, we are devel­op­ing clin­i­cal deci­sion sup­port tools to improve refer­ral and assess­ment of patients requir­ing genom­ic out­pa­tient services. 

Tha­las­saemia Screen­ing in Pregnancy

We are work­ing with mater­nal and pae­di­atric ser­vices and SA Pathol­o­gy to improve the report­ing and time­li­ness of tha­las­saemia screen­ing in pregnancy. 

Poten­tial Future Projects

Genomics Health Pathway 

We will work with Coun­try SA PHN to devel­op a path­way to help Gen­er­al Prac­ti­tion­ers with order­ing the most appro­pri­ate genet­ic tests and with refer­ral to hos­pi­tal genet­ic ser­vices. This will align with the Genomics Clin­i­cal Pri­ori­ti­sa­tion Cri­te­ria project.

Repro­duc­tive Car­ri­er Screening

A work­ing group has been estab­lished which is scop­ing the impli­ca­tions for con­sumers and on the health sys­tem of advances in repro­duc­tive car­ri­er screening.

Genet­ic test­ing improvements

A work­ing group has been estab­lished to exam­ine ways to improve genet­ic test­ing and reporting.

Hear from Pro­fes­sor Christo­pher Bar­nett about the Statewide Clin­i­cal Genomics Net­work as part of the 2022 CEIH Con­ver­sa­tion Series

Clinical Genomics Clinical Network Steering Committee
Pro­fes­sor Christo­pher Bar­nett (Chair)
Clin­i­cal Geneti­cist Statewide lead, Clin­i­cal Genomics Net­work, CEIH Head, Pae­di­atric and Repro­duc­tive Genet­ics Unit, Women’s and Children’s Hospital
Pro­fes­sor Jamie Craig
Con­sul­tant Oph­thal­mol­o­gist, Flinders University/​SAHLN/​private prac­tice Matthew Flinders Dis­tin­guished Pro­fes­sor of Oph­thal­mol­o­gy NHM­RC Senior Prac­ti­tion­er Fellow
Pro­fes­sor Jozef Gecz
Sci­en­tist Head of Neu­ro­ge­net­ics, Chair for the Pre­ven­tion of Child­hood Dis­abil­i­ty, NHM­RC Senior Prin­ci­pal Research Fel­low 2019 SA Sci­en­tist of the Year
Mr Joel Geoghegan
Bioin­for­mati­cian, Indus­try Rep­re­sen­ta­tive Team Leader Oncol­o­gy, Asia Pacif­ic Japan, Illu­mi­na Can­cer Research, Oncol­o­gy Test­ing, Genom­ic Medicine
Dr Tris­tan Hardy
Genet­ic Pathol­o­gist Obstetrician/​Gynaecologist Repro­duc­tive med­i­cine Spe­cial­ist SA Pathol­o­gy Repromed/​Monash IVF
Dr. Karin Kassahn
Sci­en­tist Head of Tech­nol­o­gy Advance­ment Unit, SA Pathology
Pro­fes­sor Ben Kile
Exec­u­tive Dean Fac­ul­ty of Health and Med­ical Sci­ences The Uni­ver­si­ty Of Adelaide

Mrs Ali­cia Kimber
Con­sumer Rep­re­sen­ta­tive and Physiotherapist

Dr Jan Liebelt
Clin­i­cal Geneti­cist South Aus­tralian Clin­i­cal Genet­ics Service/​Repromed
A/​Professor Karen Lower

Sci­en­tist Human Genet­ics Edu­ca­tion Lead and Teach­ing Pro­gram Direc­tor, Med­ical Bio­sciences Col­lege of Med­i­cine and Pub­lic Health Flinders University
Pro­fes­sor David Lynn
Sci­en­tist EMBL Aus­tralia Group Leader and Pro­gram Direc­tor in the SAHM­RI Pre­ci­sion Med­i­cine Theme; Sci­en­tif­ic Direc­tor of the new­ly estab­lished SA Genomics Cen­tre; Pro­fes­sor at Flinders Uni­ver­si­ty Col­lege of Med­i­cine & Pub­lic Health
Dr. Nico­la Poplawski

Con­sul­tant Clin­i­cal Geneti­cist for the Adult Genet­ics Unit, Roy­al Ade­laide Hospital
Dr Alice Roberts-Thomson
Con­sumer advo­cate and Gen­er­al med­ical practitioner
Pro­fes­sor Hamish Scott
Sci­en­tist Head of the Depart­ment of Genet­ics and Mol­e­c­u­lar Pathol­o­gy, SA Pathol­o­gy. Co-Direc­tor, the ACRF Can­cer Genome Facil­i­ty, Cen­tre for Can­cer Biol­o­gy, UniSA Alliance Head Mol­e­c­u­lar Pathol­o­gy Research Lab­o­ra­to­ry, Cen­tre for Can­cer Biol­o­gy, Adjunct Pro­fes­sor, UniSA Clin­i­cal and Health Sci­ences. Affil­i­ate Pro­fes­sor, Ade­laide Med­ical School.

Dr Vijay Suppiah
Senior Lec­tur­er in Phar­ma­cy Ade­laide Cen­tre for Pre­ci­sion Health, UniSA Senior Lec­tur­er in Pharmacy
Pro­fes­sor Graeme Suthers
Clin­i­cal geneti­cist Nation­al Direc­tor of Genet­ics for Son­ic Pathol­o­gy Aus­tralia Clinpath
Mrs Debra Trott
Genet­ic Coun­sel­lor Head of Unit, Adult Genet­ics Unit, Roy­al Ade­laide Hospital
Pro­fes­sor Deb­o­rah White
Can­cer Pro­gram. SAHM­RI. Deputy Pre­ci­sion Med­i­cine Theme Leader. SAHM­RI. Aus­tralian Genomics Flag­ship Lead for Acute Lym­phoblas­tic Leukaemia (ALL) Genomics. SA Sci­en­tif­ic lead for Zero Children’s Can­cer (ALL Genomics)
Pro­fes­sor Paul Worley
Gen­er­al prac­ti­tion­er Mur­ray Bridge, Exec­u­tive Direc­tor Clin­i­cal Inno­va­tion, River­land Mallee Coorong LHN, For­mer Dean, Flinders Med­ical School

Network Lead

Professor Christopher Barnett

Clin­i­cal Genomics Statewide Net­work Vision

Our vision is for the South Aus­tralian genomics com­mu­ni­ty to work togeth­er to pro­vide the best pos­si­ble health care for South Australians.

Clin­i­cal Genomics Statewide Net­work Goals

  • Deliv­er high qual­i­ty care for peo­ple through a per­son-cen­tred approach to genomics
  • Work­force: build­ing a skilled work­force that is lit­er­ate in genomics
  • Finance and infra­struc­ture: ensur­ing sus­tain­able and strate­gic invest­ment in cost-effec­tive genomics
  • Ser­vices: max­imis­ing qual­i­ty, safe­ty and clin­i­cal util­i­ty of genomics in health care
  • Data: respon­si­ble col­lec­tion, stor­age, use and man­age­ment of genom­ic data
  • Inno­va­tion: estab­lish inno­v­a­tive projects that put South Aus­tralia at the fore­front of genomics

Doc­u­ments and Addi­tion­al Information

Have a question?

Or want to know more about the Clin­i­cal Genomics Statewide Clin­i­cal Net­work?
Please email CEIH.​ClinicalGenomics@​sa.​gov.​au

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