Application Detail

Description of Medical Service

The proposed medical service is an annual whole body MRI for individuals with germline pathogenic TP53 variants (Li Fraumeni Syndrome).

Description of Medical Condition

Li Fraumeni Syndrome (LFS) is an ultra-rare condition (between 1/5000-1/20,000 of the population) associated with a very high risk of cancers in multiple tissues. LFS is caused by germline pathogenic variants in the TP53 gene. The estimated risk of cancer by age 30 years is 50%, and the lifetime cancer risk approaches 90% for men, and 100% for women. Life expectancy is severely reduced and estimated to be below 40 years of age. The most common cancer types seen in LFS are (in descending order of frequency): breast cancer, sarcomas, brain cancers, adrenocortical carcinoma, but the incidence of almost all cancer types is increased in this population. Most of these cancers are curable if detected early.

Reason for Application

New MBS item

Medical Service Type

Investigative

Previous Application Number/s

Not Applicable

Associated Documentation

Application Form

Application Form (PDF 1838 KB)
Application Form (Word 1863 KB)

Consultation Survey

Consultation Survey (PDF 587 KB)
Consultation Survey (Word 68 KB)

PASC Consultation
PASC consultation closed

MSAC Consultation
MSAC consultation closed Friday, 10 June 2022.

For further information please refer to PASC, ESC, MSAC Key Dates
For further information on the consultation process please refer to MSAC Consultation Process

PICO Confirmation

PICO Confirmation (PDF 1359 KB)
PICO Confirmation (Word 462 KB)

Assessment Report

-

Public Summary Document

Public Summary Document (PDF 685 KB)
Public Summary Document (Word 178 KB)

Meetings for this Application

PASC

12-13 August 2021

ESC

9-10 June 2022

MSAC

28-29 July 2022