Immunologist Carola Vinuesa maintains she has been an advocate for science - rather than Folbigg - and has called for the use of genetic testing in all cases of sudden infant deaths.

Prof Vinuesa's research played a critical role in the call for a second inquiry into Folbigg's convictions, ultimately resulting in the pardon.

After nearly five years working on the case, the immunologist received a call on Monday morning from the recently freed mother of four.

"I will always remember the day (because) every scientist dreams of making a difference in someone's life," Prof Vinuesa told AAP on Tuesday.

She and her team conducted genetic testing that uncovered the presence of a mutation in the genes of Folbigg and her daughters Sarah and Laura.

The relevant gene, CALM2, codes for a protein important to creating a rhythmic heartbeat.

Children with the same mutation have died of sudden cardiac death and cardiac arrhythmias.

Under questioning at the inquiry earlier this year, Prof Vinuesa said significant new evidence indicated there were possible and even credible causes of natural deaths for the children Folbigg was jailed for killing.

"There was a chance that Kathleen herself might be carrying one of these variants, because they tend to be inherited," she said.

"So Folbigg could have been carrying these mutations and passed them on her children."

Contrary to what an initial inquiry was told, Prof Vinuesa said there were many cases similar to Folbigg's in medical literature.

"People think that this is really rare, but it's even more rare that mothers kill four healthy children," she said.

University of Sydney cardiologist Christopher Semsarian said the Folbigg case represented a breakthrough in genetic testing and the power of new DNA evidence.

"Ten years ago, we didn't even know what the CALM2 was," he said.

"We didn't have the technology."

Prof Semsarian is optimistic about the potential uses for new technology in providing reasons for rare cases of young people dying suddenly with seemingly no medical explanation.

About a quarter of these deaths are now able to be answered through genetic examination.

"Every week I see families that have lost a son or a daughter," he said.

"We used to look for fingerprints, now we can look for genetic fingerprints in changes linked to a crime or a death."

Australia's peak science body has also called for an overhaul to the nation's criminal justice system, drawing upon criminal case review commissions adopted by peer countries like Canada and New Zealand.

Australian Academy of Science Chief executive Anna-Maria Arabia said reforms were needed to allow science to inform decision-making and prevent further miscarriages of justice.

Australian Associated Press