Abstract 24P
Background
Genetic testing for hereditary cancer is important for clinical treatment and risk management for patients and high-risk individuals. The landscape of genetic testing for germline cancer predisposition has shifted from single gene testing to the more cost-effective multi-gene panels. However, multi-gene panel testing results in greater variant of uncertain significance (VUS) rates and secondary findings, which is challenging for clinical management. In this study, we aim to describe the genetic testing uptake and variant distribution in a single genetic counselling and testing centre in Malaysia.
Methods
A descriptive retrospective analysis of patients seen at a single genetic counselling and testing centre was conducted. Patients were referred from clinicians or self-referred from January 2019 until December 2022. Researchers conducted intake calls, collected pedigrees and written informed consent from all patients prior to genetic testing. Pre and post-test genetic counseling was provided by the certified genetic counselor. Patients were offered either physical consultation or telegenetic counselling. Multi-gene panels were used to analyze between 19 to 47 genes which are associated with an increased risk of hereditary cancer.
Results
Among the 489 who were referred, 430 (88%) came forward for genetic counseling, the majority of them were referred from private hospitals within the Klang Valley. Among the 381 (89%) who proceeded with genetic testing, 13.9% had pathogenic/likely pathogenic variants, 24.4%, variant of uncertain significance and 61.7% had no variants detected. Majority of the patients had breast cancer (77%) and 84% met current genetic testing guidelines criteria.
Conclusions
The uptake rate of genetic testing is high after pre-test genetic counselling. However, there is a high rate of VUS which causes uncertainties for the patients and their clinicians in making clinical management decisions. Adequate pre and post-test genetic counseling can ensure a better understanding of these variants’ implication and provide support of potential psychosocial impact to the patient.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
Cancer Research Malaysia.
Funding
Has not received any funding.
Disclosure
The author has declared no conflicts of interest.
Resources from the same session
102P - Enhancing colorectal cancer prevention in high-risk populations through faecal immunochemical test surveillance
Presenter: Li Xie
Session: Poster Display
Resources:
Abstract
103P - Anlotinib plus chemotherapy as first-line therapy for gastrointestinal tumor patients with unresectable liver metastasis: Updated results from a multi-cohort, multi-center phase II trial ALTER-G-001-cohort A
Presenter: Junwei Wu
Session: Poster Display
Resources:
Abstract
104P - The value of functional MR-imaging signature model for early prediction of chemotherapy response and its guidance for regimen adjustment to improve efficacy
Presenter: Wenhua Li
Session: Poster Display
Resources:
Abstract
105P - A single-arm, phase II, multicenter study of iparomlimab (QL1604) in patients (pts) with unresectable/metastatic deficient mismatch repair (dMMR)/microsatellite instability high (MSI-H) solid tumors
Presenter: Weijian Guo
Session: Poster Display
Resources:
Abstract
106P - Efficacy and safety of IBI351 (GFH925) monotherapy in metastatic colorectal cancer harboring KRASG12C mutation: Updated results from a pooled analysis of two phase I studies
Presenter: Ying Yuan
Session: Poster Display
Resources:
Abstract
107P - Tumor-stromal ratio in a new age fibroblast activated protein PET imaging as a biomarker for prediction of response to neoadjuvant chemoradiotherapy in carcinoma rectum
Presenter: swetha Suresh
Session: Poster Display
Resources:
Abstract
108P - Detection of HER2 overexpression in colorectal cancer: Comparison of a HANDLE classic NGS panel with standard IHC/FISH
Presenter: Lijuan Luan
Session: Poster Display
Resources:
Abstract
109P - Early onset metastatic colorectal cancer: Clinical-prognostic characteristics and correlation to molecular status
Presenter: Andrea Pretta
Session: Poster Display
Resources:
Abstract
110P - The correlation between multi-dimensional characteristics of circulating tumor cells (CTC) and treatment response in patients with initially unresectable metastatic colorectal cancer
Presenter: Yu Liu
Session: Poster Display
Resources:
Abstract
111P - Comparison of the efficacy and safety of fruquintinib and fruquintinib combined with immune checkpoint inhibitors in the treatment of metastatic microsatellite stable colorectal cancer: A real-world study
Presenter: Zhiqiang Wang
Session: Poster Display
Resources:
Abstract