Commission on Excellence and Innovation in Health

Clinical Genomics Statewide Clinical Network

The Clinical Genomics SCN promotes Genomics, 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 Clin­i­cal Genomics Statewide Clin­i­cal Net­work as part of the 2022 CEIH Con­ver­sa­tion Series

Clinical Genomics Statewide Clinical Network Steering Committee

Prof Christo­pher Bar­nett (Chair)

Clin­i­cal Lead of the Clin­i­cal Genomics SCN; Clin­i­cal Geneti­cist; Head, Pae­di­atric and Repro­duc­tive Genet­ics Unit (WCHN)

Dr Alice Roberts-Thomson

Con­sumer advo­cate and Gener­al med­ical prac­ti­tion­er (Belair Med­ical, Ade­laide Mums and Babies Clinic)

Mrs Ali­cia Kimber

Con­sumer Rep­re­sen­ta­tive and Physiotherapist

Prof David Lynn

Direc­tor, Com­pu­ta­tion­al and Sys­tems Biol­o­gy Pro­gram (SAHM­RI); Pro­fes­sor of Sys­tems Immunol­o­gy, Col­lege of Med­i­cine and Pub­lic Health (Flinders Uni­ver­si­ty); Sci­en­tif­ic Direc­tor (SA Genomics Centre)

Prof Deb­o­rah White

Co-Theme Leader Pre­ci­sion Can­cer Med­i­cine; Head of Acute Leukaemia Genomics (SAHM­RI)

Dr Denis Bauer

Group leader (CSIRO)

Ms Gay­athri Parasivam

Senior Genet­ic Coun­sel­lor, Pae­di­atric and Repro­duc­tive Genet­ics Unit (WCHN)

Prof Hamish Scott

Sci­en­tist, Head of the Depart­ment of Genet­ics and Mol­e­c­u­lar Pathol­o­gy (SA Pathology)

Ms Hay­ley Salvemini

Prin­ci­pal Genet­ic Coun­sel­lor (FHGSA), Adult Genet­ics Unit (RAH)

Prof Jamie Craig

Con­sul­tant Oph­thal­mol­o­gist (Flinders University/​SAHLN/​private prac­tice); Matthew Flinders Dis­tin­guished Pro­fes­sor of Oph­thal­mol­o­gy; NHM­RC Senior Prac­ti­tion­er Fellow

Dr Jan Liebelt

Clin­i­cal Geneti­cist (South Aus­tralian Clin­i­cal Genet­ics Service/​Repromed)

Mr Joel Geoghegan

Bioin­for­mati­cian; Indus­try Rep­re­sen­ta­tive Team Leader Oncol­o­gy (Asia Pacif­ic Japan, Illumina)

Prof Jozef Gecz

Sci­en­tist; Head of Neu­ro­ge­net­ics (Ade­laide Med­ical School); Chair for the Pre­ven­tion of Child­hood Dis­abil­i­ty; NHM­RC Senior Prin­ci­pal Research Fel­low 2019 SA Sci­en­tist of the Year

A/​Prof Karen Lower

Sci­en­tist; Human Genet­ics Edu­ca­tion Lead and Med­ical Bio­sciences Teach­ing Pro­gram Direc­tor, Col­lege of Med­i­cine and Pub­lic Health (Flinders University)

A/​Prof Karin Kassahn

Head of Tech­nol­o­gy Advance­ment Unit, Genet­ics and Mol­e­c­u­lar Pathol­o­gy (SA Pathology)

Prof Lyle Palmer

Pro­fes­sor of Genet­ic Epi­demi­ol­o­gy (Uni­ver­si­ty of Adelaide)

Mr Mario Corena

Con­sumer representative

Dr Nico­la Poplawski

Clin­i­cal Geneti­cist and Head of Unit, Adult Genet­ics Unit (RAH)

Prof Paul Worley

Gen­er­al prac­ti­tion­er; Exec­u­tive Direc­tor Clin­i­cal Inno­va­tion (River­land Mallee Coorong LHN)

Ms Tracey Powell

Con­sumer representative

Dr Tris­tan Hardy

Statewide Clin­i­cal Sup­port Ser­vices (SCSS); Med­ical Direc­tor Genet­ics (SA Pathology/​Repromed)

Dr Vijay Suppiah

Senior Lec­tur­er in Phar­ma­cy (Ade­laide Cen­tre for Pre­ci­sion Health, UniSA)

Professor Christopher Barnett

Clinical Geneticist

Prof Christo­pher Bar­nett has dual fel­low­ships in neonatal/​perinatal med­i­cine, clin­i­cal genet­ics and is the head of the Pae­di­atric and Repro­duc­tive Genet­ics Unit at the Wom­en’s and Chil­dren’s Hos­pi­tal in Ade­laide. He is the lead of the NHM­RC fund­ed Genom­ic Autop­sy Project and on the expert advi­so­ry com­mit­tee of the Genomics Health Futures Mis­sion. Christo­pher trained at the Wom­en’s and Chil­dren’s Hos­pi­tal in Ade­laide and at The Hos­pi­tal for Sick Chil­dren in Toron­to. He has research inter­ests in pre­na­tal genet­ics, fetal pathol­o­gy and rare child­hood diseases.

Clin­i­cal Genomics Statewide Clin­i­cal 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 Clin­i­cal 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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Improving the identification and management of Haemoglobinopathies and Thalassaemia in pregnancy

The Clin­i­cal Genomics Statewide Net­work team held a work­shop involv­ing near­ly 30 key clin­i­cal stake­hold­ers in April, with the aim of improv­ing the path­way for cou­ples at risk.

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