J.SAMOL1, C.W.LIM1, L.L.GOH1, V.Y.M.HEONG1, M.H.TAN1
Tan Tock Seng Hospital1
Patient referrals to Genetic Counselling Service (GCS) as well the uptake of germline testing had increased steadily until covid19 reduced the numbers noticeably in 2021. GCS influenced therapeutic decisions positively in patients & healthy carriers. Collaboration with NCCS & Lucence showed that only a third of patients had a positive family history, contrary to our own data. A research study, using whole exome sequencing, is ongoing.
The negative impact of covid-19 is due to repeated clinic closures and patients deferring appointments; test up-take is 60%. Overall rate of positive (pathogenic) test results of 12%, VUS (variant of uncertain significance) 31% and negative (benign) 56%; demonstrating a minor decrease in positive and negative results with an increase of VUSs compared to previously published data with 15% positive results, VUS 25% and negative 60%. 14 out of 27 positive cases are seen in breast cancer with BRCA1/2 being the bulk of the cases. Our cohort shows just over half of patients had a positive family history. None of the VUSs were suggestive of potentially becoming pathogenic. Healthy carriers of pathogenic variants underwent appropriate screening.
-Covid-19 impacted the GCS at TTSH significantly
-overall decision making improved
-increase in VUSs is due to the usage of larger variant panels
-discrepancy in positive family histories between our data and the collaborative pooling of 704 patients demonstrates unmet need for a national data base
-continuing collaborations, increasing cancer genetic education within TTSH, nationally, regionally, and internationally will improve awareness