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A woman sitting in a court dock with a microphone in front of her.

Kathleen Folbigg appears during an inquiry in 2019.Credit: Joel Carrett/AAP Image via Alamy

Researchers and legal experts are applauding the role of an independent scientific adviser in an Australian judicial inquiry whose evidence led to the pardon and release of a woman sent to prison 20 years ago. Kathleen Folbigg, jailed in 2003 over the deaths of her four young children, walked free on 5 June after the inquiry concluded there was “reasonable doubt as to the guilt of Ms Folbigg for each of the offences for which she was originally tried”. Scientists involved in the inquiry are now calling for legal reform so that there is a formal process in Australia to present emerging scientific evidence.

“Science was heard in this case,” says Michael Toft Overgaard, a protein scientist at Aalborg University in Denmark who was an expert witness at the inquiry. “The whole case has been a bit surreal for us as scientists to be part of.”

Genetic evidence not available at the time of Folbigg’s conviction revealed that rare mutations in the protein calmodulin could have caused the deaths of her two daughters, and a neurogenetic disorder could have led to the death of one of her sons. Calmodulin controls calcium concentration in cells, and among other roles helps to regulate the heart’s contractions.

Regarding her pardon, “I’m so happy for her,” says geneticist Carola Vinuesa at the Francis Crick Institute in London. Vinuesa was approached by Folbigg’s lawyers in 2018 to sequence Folbigg’s genome and the genomes of her deceased children to see whether there was a genetic explanation for their sudden deaths, which occurred between 1989 and 1999.

Scientific adviser

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Vinuesa identified mutations in a gene called calmodulin 2 in Folbigg’s genome as well as in those of her two daughters, which could have explained the girls’ deaths. But that evidence was not enough to convince the commissioner of the first inquiry, who upheld Folbigg’s convictions. So in 2019, Vinuesa contacted the Australian Academy of Science, which gathered support to petition the governor of New South Wales to grant Folbigg a pardon, based on subsequent work by Overgaard and others that showed how the mutations impaired protein function.

At that stage, every other legal avenue had been exhausted. The governor ordered a new inquiry, and its commissioner, former state chief justice Thomas Bathurst, appointed the academy to act as a scientific adviser.

In that role, the academy recommended scientific expert witnesses and advised on the scope of expertise for each witness. The academy put forward some 30 researchers, around half of whom presented evidence at the inquiry. Other experts were also called by the prosecution and defence teams. The academy’s chief executive, Anna-Maria Arabia, says the inquiry heard “the most up-to-date science from the most qualified scientists, wherever they were in the world”. The expert witnesses were independent of both the prosecution and defence, says Arabia, and available for all parties to interrogate.

Peter Schwartz, a cardiologist at the Italian Auxological Institute in Milan, Italy, and a world leader in calmodulin mutations that cause sudden death, was one of the expert witnesses. He has advised on nearly 40 medico-legal cases, mostly in the United States, and says that having independent advice from the academy helped to ensure relevant experts presented world-leading evidence to the inquiry, instead of relying on one or two local experts. “I don’t recall ever having seen that in a trial of this kind,” he says, and “it goes to the credit of the Australian justice system.”

Overgaard says that he and other experts were given time to provide the necessary background so that lawyers thoroughly understood the science. On one occasion, he spent more than five hours explaining how mutations in the calmodulin protein could impair its function. The inquiry was also put on hold at one stage so that Overgaard and his team could update their evidence with results of further experiments they ran to address another expert’s questions, he says.

Time for reform

Jason Chin, a legal academic at the Australian National University in Canberra, says that an independent scientific adviser could be used more often, especially in judicial inquiries that have greater discretion on process.

Arabia says that the case demonstrates how the science and justice systems can work together, and that it should prompt law reforms to create a more “science-sensitive legal system”. She and others are calling for the establishment of a criminal case review commission, similar to that in the United Kingdom, which can revisit cases when there are advances in the science and new evidence comes to light.

“I do hope they succeed,” says Overgaard, “so that experts with specific knowledge relevant to the case are called.”

But despite praise for the process, researchers caution that science doesn’t necessarily make a case black and white. “When the science is really nuanced, and really new and evolving as this was, you still may not get consensus,” says Hugh Watkins, a cardiologist at the University of Oxford, UK, who studies genes that cause sudden cardiac death.

Watkins adds: “It really does come down to the legal assessment of where that residual uncertainty leaves you.”

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