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
112P - Optimal classification and treatment strategy based on technical and oncological futures in recurrence of colorectal liver metastases
Presenter: Kosuke Kobayashi
Session: Poster Display
Resources:
Abstract
113P - Phase I/II study of capecitabine(C)/oxaliplatin(O)/irinotecan(I) combined with bevacizumab(B) in the first-line treatment of metastatic colorectal cancer (mCRC)
Presenter: Kai Ou
Session: Poster Display
Resources:
Abstract
114P - The prognostic role of LAG-3 expression in metastatic colorectal cancer
Presenter: Yi-Hsuan Huang
Session: Poster Display
Resources:
Abstract
115P - Sidedness and survival of chemo-refractory metastatic colorectal cancer treated with lonsurf or regorafenib: A nationwide population-based study in Taiwan
Presenter: Meng-Che Hsieh
Session: Poster Display
Resources:
Abstract
116P - Burden and trends of colorectal cancer in high income Asia Pacific countries from 1990-2019 and its projections of deaths to 2040: A comparative analysis
Presenter: Monika Chhayani
Session: Poster Display
Resources:
Abstract
117P - Australasian real-world treatment selection and clinical outcomes for patients with left side (LS), RAS wildtype (RASwt) metastatic colorectal cancer (mCRC)
Presenter: Vanessa Wong
Session: Poster Display
Resources:
Abstract
119P - Neoadjuvant chemoradiotherapy in the mode of hypofractionation in locally advanced rectal cancer: Is it time to change standards of care?
Presenter: Abror Abdujapparov
Session: Poster Display
Resources:
Abstract
120P - Improved clinical outcomes with cetuximab maintenance therapy in left-sided RAS/BRAF wild-type metastatic colorectal cancer: A real-world study of Hunan cancer hospital
Presenter: Xiaolin Yang
Session: Poster Display
Resources:
Abstract
121P - Single-cell sequencing reveals the role of Treg cells with high expression of BIRC3 in regulating the progression of colorectal cancer
Presenter: Yuqiu Xu
Session: Poster Display
Resources:
Abstract
122P - Distinct transcriptomic immune profiling and clinicopathological features of cribriform morphology in colorectal adenocarcinomas
Presenter: Abdelhakim Khellaf
Session: Poster Display
Resources:
Abstract