Shaping the Future of Whole Genome Sequencing for SA’s Health System

Whole genome sequenc­ing (WGS) is a new and pow­er­ful way of look­ing at a person’s DNA — the instruc­tions that tell our bod­ies how to grow, devel­op, and function. 

This tech­nol­o­gy can help doc­tors find the cause of cer­tain health con­di­tions faster and more accu­rate­ly than ever before. In the future, it could help more peo­ple get the right diag­no­sis and treat­ment soon­er, and even help pre­vent some ill­ness­es before they start. 

The Oppor­tu­ni­ty

Genomics is chang­ing how health­care is deliv­ered around the world. South Aus­tralia has an oppor­tu­ni­ty to lead the way in using whole genome sequenc­ing to improve care, speed up diag­noses, and pro­vide more cer­tain­ty to patients and families. 

By prepar­ing now, we can make sure these tech­nolo­gies are intro­duced in a safe, fair, and effec­tive way that ben­e­fits everyone. 

Our Approach

The Clin­i­cal Genomics Statewide Clin­i­cal Net­work (SCN) is work­ing to ensure South Australia’s health sys­tem is ready to use whole genome sequenc­ing on a broad­er scale. 

Some of the key areas of focus include: 

• Mak­ing sure every­one in South Aus­tralia can access genom­ic test­ing if they need it 
• Sup­port­ing doc­tors, nurs­es, and oth­er health pro­fes­sion­als to learn how to use genom­ic test­ing and infor­ma­tion in patient care 
• Pro­vid­ing advice to the health sys­tem about how and where genomics can make a difference
• Col­lab­o­rat­ing on research and inno­va­tion to sup­port the safe and effec­tive use of genomics in clin­i­cal care.

Our Part­ners

This work is only pos­si­ble through col­lab­o­ra­tion. The Clin­i­cal Genomics SCN works close­ly with:

• SA Health and Local Health Networks 
• Researchers and aca­d­e­m­ic partners 
• Clin­i­cians, genet­ic coun­sel­lors, lab­o­ra­to­ries, and diag­nos­tic services 
• Con­sumers, fam­i­lies, and com­mu­ni­ty groups.

Togeth­er, we are build­ing a health sys­tem that is ready for the future of per­son­alised care. 

Cur­rent Activ­i­ties and Outcomes

What do peo­ple think? 

Ini­tial con­sumer test­ing on a small group of peo­ple from a diverse range of back­grounds has been car­ried out to under­stand how the com­mu­ni­ty – includ­ing par­ents, poten­tial par­ents, and oth­ers – feel about using genome sequenc­ing in newborns. 

The results showed that most par­tic­i­pants were sup­port­ive of an approach where genom­ic infor­ma­tion is col­lect­ed ear­ly in life and made avail­able to guide med­ical care if and when it’s need­ed, and believed the ben­e­fits out­weighed the risks. Peo­ple recog­nised the poten­tial for ear­li­er detec­tion of seri­ous con­di­tions and were open to approach­es that allow genom­ic infor­ma­tion to be used when it’s most rel­e­vant to patient care. 

This feed­back is help­ing guide how infor­ma­tion is shared with par­ents and how the health sys­tem can sup­port informed, con­fi­dent decision-making.

Under­stand­ing the costs and ben­e­fits

Whole genome sequenc­ing is a pow­er­ful tool — but it’s impor­tant to under­stand whether the ben­e­fits are worth the invest­ment, and how it can be used in the most effec­tive and sus­tain­able way. 

An eco­nom­ic eval­u­a­tion is help­ing to explore: 

• The costs and ben­e­fits of dif­fer­ent mod­els of care, includ­ing a ​“sequence and store” approach where the genome is sequenced once and stored for future clin­i­cal use 

• Whether this approach can reduce the need for repeat­ed or unnec­es­sary tests over time 

• How ear­ly access to stored genom­ic data could lead to faster diag­no­sis and more tar­get­ed treat­ment when it is needed 

• The poten­tial long-term sav­ings to the health sys­tem through more effi­cient care and bet­ter health outcomes 

• The broad­er ben­e­fits for indi­vid­u­als and fam­i­lies, such as few­er delays, more cer­tain­ty, and greater con­fi­dence in care decisions. 

This analy­sis will help health lead­ers and pol­i­cy­mak­ers make informed deci­sions about when and how genome sequenc­ing should be used to pro­vide the best val­ue and impact for South Australians.

Link­ing to pre­ci­sion med­i­cine

Whole genome sequenc­ing is a key part of the broad­er move toward pre­ci­sion med­i­cine — an approach to health­care that tai­lor’s pre­ven­tion, diag­no­sis, and treat­ment to an individual’s unique genet­ic make­up, envi­ron­ment, and lifestyle. 

This work aligns close­ly with the CEIH Pre­ci­sion Med­i­cine Blue­print https://​ceih​.sa​.gov​.au/​o​u​r​-​w​o​r​k​/​p​r​e​c​i​s​i​o​n​-​m​e​d​icine, which out­lines a roadmap for inte­grat­ing pre­ci­sion med­i­cine into South Australia’s health sys­tem. By build­ing strong foun­da­tions now, the Clin­i­cal Genomics SCN is help­ing pave the way for a more per­son­alised, data-dri­ven, and equi­table future in healthcare. 

Doc­u­ments and Resources

Com­ing soon – rel­e­vant doc­u­ments and links will be added here as they become avail­able.

Have a question? 

Or want to learn more? 

Please email CEIH.​ClinicalGenomics@​sa.​gov.​au.