An International Survey of Awareness of Genetic Risk in the Adult and Paediatric Clinical Sarcoma Community — ASN Events
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  3. An International Survey of Awareness of Genetic Risk in the Adult and Paediatric Clinical Sarcoma Community

An International Survey of Awareness of Genetic Risk in the Adult and Paediatric Clinical Sarcoma Community (#353)

Kate McBride 1 2 , Timothy E Schlub 1 , Mandy L Ballinger 3 , David M Thomas 4 , Martin H Tattersall 2
  1. Sydney School of Pubic Health, Sydney, NSW
  2. The Chris O'Brien Lifehouse, Sydney Medical School, Sydney, NSW
  3. Research Division, Peter MacCallum Cancer Centre, Melbourne, VIC
  4. The Kinghorn Cancer Centre, Garvan Institute for Medical Research, Darlinghurst, NSW

Integration of clinical genetics into oncology is variable. Sarcomas have a strong genetic component, with 1/30 patients carrying germline mutations in TP53. Identification of risk alleles is important for young sarcoma patients for future surveillance measures and for reproductive decisions. We aim to define genetic risk awareness amongst sarcoma clinicians.

An online survey was developed and assessed for validity. The survey was emailed to the Connective Tissue Oncology Society and the Australasian Sarcoma Study Group. 159/2000 responded. Only clinicians were included in the analysis (N=124). Primary outcomes were attitudes towards genetic testing, knowledge of cancer risk, and awareness of risk reduction measures.

40% of clinicians favoured TP53 mutation testing in children regardless of family history, increasing to 80% if a family history was present and 87% if multiple primary cancers were present. Being an Australian clinician was significantly associated with being in favour of referral for genetic testing in sarcoma patients over 16yrs (✗2=8.09, 1df p=0.017).

33% of clinicians weren't aware that screening of at-risk individuals may identify cancers at a more curable stage. Being a paediatrician was significantly associated with favouring WB-MRI <16yrs (✗2=16.49, 1df p=0.001). 57% of clinicians weren't aware of strategies to reduce the risk of having a baby with a mutation, though most clinicians (75%) considered them to be acceptable when told what the options were. Being an Australian clinician was significantly associated with being in favour of pre-natal diagnosis (✗2=13.68, 1df p=0.037). When asked to estimate the chance of TP53 mutation carriers developing cancer 50yrs, 41% of clinicians estimated cancer risk accurately (above 60% by age 50).

Sarcoma specialists don't have detailed knowledge of  hereditary aspects of sarcoma. We know that ~1/30 adult sarcoma patients carry a germline TP53 mutation. Routine access to clinical genetics services is needed by the sarcoma clinics so that potential germline TP53 mutation carriers are identified. These mutations may then be taken into consideration for clinical management of carriers.

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