A coroner couldn't tell Danielle how her son died. Then she lost her daughter
This was despite nearly 90 per cent of couples at risk of having a child with a genetic condition having no prior family history of the disorder.
The barriers to genetic testing
Several state coroners offices and attorneys-general, including in NSW and Victoria, suggested that obtaining consent from next of kin was the main barrier to implementing routine genetic testing. None are updating current guidelines to mandate genetic testing under these circumstances.
NSW Attorney-General Michael Daley said a coroner can order genetic testing based on advice from NSW Health Forensic Medicine, and the government was 'always considering ways the coronial process can be improved to provide answers to grieving families'.
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A spokesperson from the Victorian government said coroners can request the testing 'where it is considered relevant'.
Coroners Project co-founder Rachael Casella said even when there is an indication that a genetic condition is at play in a death, instead of conducting genetic testing on the deceased, the coroner or forensic pathologist will often recommend that the family pursue genetic testing for themselves. This requires navigating a complex system, potentially at a personal financial cost.
She said placing the burden on grieving families to know about and seek genetic testing is wrong.
'If you're talking to a grieving family, most of the time they're not going to think to go and do genetic testing. They don't know whom to contact … Are there costs involved? Is English their second language?' said Casella, whose daughter Mackenzie died of the genetic condition spinal muscular atrophy at seven months old and is the namesake of federally funded Mackenzie's Mission, a genetic carrier screening trial for would-be parents.
Professor Gina Ravenscroft, an expert in rare disease genetics at the Harry Perkins Institute of Medical Research and University of Western Australia, said restricting genetic testing to cases with a family history of genetic conditions was outdated and parents who consent to autopsies are likely to agree to genetic testing because they want to know what killed their loved one.
'I don't see that genetics is that different from any other test we do to try and find out what the cause of death is in an infant or a young person.'
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Professor Jodie Ingles, head of clinical genomics at the Royal Prince Alfred Hospital, said the cost of genetic testing was likely a deterrent because Medicare does not subsidise it.
Forensic pathologists – who order the genetic tests – were also grappling with a backlog of autopsy reports amid a national shortage of the specialists.
Kate and Tim Newman lost their two daughters, Olivia and Mia, to heart failure caused by a PPA2 gene mutation before their second birthdays. It was only after Mia died that doctors at the Children's Hospital in Brisbane suggested they test her DNA and a sample kept from Olivia's autopsy.
Their experience makes it difficult for them to understand why consent and a lack of resources would be barriers to genetic testing, considering the tens of thousands of dollars it cost the healthcare system and the couple to test and treat their daughters over several distressing months, Kate Newman said.
Consenting to the removal of Olivia's brain seemed a far more traumatic request for Newman than if she'd been asked for her consent to do genetic testing, though she said she was never asked.
'To think that there are blockages in terms of funding for genetic tests is crazy … they took my kid's brain out and sent it to America to try and test for certain things, and we didn't need to go through any of that if they'd just done a blood test and got DNA results,' she said.
Guilt, false accusations and the relief of a diagnosis
Finding answers helped the Greens and Newmans with the overwhelming guilt attached to the sudden and unexplained deaths of multiple children.
'I was addicted to googling rabbit holes, reading every article, medical journal, anything I could get my hands on,' Danielle Green said. 'I just held so much guilt. Did I not take gastro seriously enough? Did I allow him to get dehydrated? Was he showing symptoms of this months prior?'
Carola Vinuesa, a professor in immunology and genetics at the Francis Crick Institute in London, who was part of a team that analysed Kathleen Folbigg's DNA for genetic mutations, said having a diagnosis can also stop parents being wrongly accused of harming their children, especially when there is more than one child death in the family.
'Every post-mortem in a child should have a genetic test,' Vinuesa said.
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Newman said she was questioned by detectives and child protection service officers after Mia's death.
'We were saying goodbye to Mia, we had her in the hospital room, and we got pulled out by a detective and child services,' Newman said, becoming upset as she retells the story.
'They're protecting the children, but I must say that was really tough to be questioned. I remember he said 'Children don't just die' and I took great offence to that.
'I hate to think that there's anyone else out there who's lost a child and doesn't have answers. The guilt that they may feel, not having known, and the potential that it could happen again.'
There are some signs of progress towards better integrating genetic testing. WA's Health Minister, Amber-Jade Sanderson, foreshadowed updating the state's model of care for unexpected deaths in young people, and South Australian Women's and Children's Health Network is leading a national genetic autopsy study using genomic sequencing to better understand the causes of pregnancy loss.
The Coroners Project is supported by several organisations, including Murdoch Children's Research Institute, Red Nose Australia, Australian Genomics and Mito Foundation.
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