23 September 2021

Families with genetic curse need access to full body MRI scan

Clinical Rare cancers

The Garvan Institute is pushing for MBS funding for a full body MRI scan for people with Li-Fraumeni syndrome. 

Li-Fraumeni syndrome is an inherited condition that leads to a high risk of cancer early in life. It affects around 250 to 1,000 people in Australia.

While condition has been documented for 50 years or so, there has been little that could be done about it until now. 

Routine full body MRI scans are “exquisitely detailed” and “extremely sensitive” and can pick up on early cancers in people with Li-Fraumeni syndrome, said Professor David Thomas, the director of The Kinghorn Cancer Centre at The Garvan Institute of Medical Research, and the CEO of Omico, the Australian Genomic Cancer Medicine Centre.

Following a global metanalysis co-led by the Garvan Institute, full body MRI scans for people with Li-Fraumeni syndrome are now a recommended standard of care in Australian, European and US guidelines. 

However, these scans are not yet publicly funded under the MBS – something Omico is lobbying to change via an application for MBS funding. 

The technology to perform these scans is available at most hospitals; all that is required is an MRI machine and appropriate software protocols. 

The scan takes about an hour to perform.

Scanning people with Li-Fraumeni syndrome leads to a one in 14 detection rate for cancer. By comparison, breast cancer screening has a one in 50 chance of detecting tumours. 

Li-Fraumeni syndrome is usually diagnosed because of a striking personal or family history of cancer, with implications for one in two close relatives.

An example of such a family history would be a mother who developed breast cancer at age 27, perhaps with a close relative with a rare sarcoma. This story would be a warning signal that would lead to genetic testing and counselling, said Professor Thomas.

While the numbers who would benefit are small, it is a major advance for the affected families, who now have an option to waiting for a cancer diagnosis. 

“For those blighted by Li-Fraumeni syndrome, whole body MRI scans represent hope,” he said.

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