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
373P - Investigating the impact of treatment on geriatric patients with locally advanced head and neck squamous cell carcinoma
Presenter: Yen Ting Liu
Session: Poster Display
Resources:
Abstract
374P - Immunohistochemical evaluation of oral lichen planus: A prospective clinical study
Presenter: Saravanan Sampoornam Pape
Session: Poster Display
Resources:
Abstract
375P - Survival and prognostic factors of head and neck squamous cell carcinoma patients treated with either definitive CCRT or post operative CCRT with platinum-based chemotherapy in Rajavithi hospital, Thailand
Presenter: wanit samadee
Session: Poster Display
Resources:
Abstract
376P - Nutrition as an independent prognostic factor in locally advanced nasopharyngeal carcinoma: A retrospective cohort study and propensity score-matched analysis
Presenter: haizhen yi
Session: Poster Display
Resources:
Abstract
377P - Oropharyngeal squamous cell carcinomas in Indian population: P16 positivity and treatment outcomes following chemoradiotherapy
Presenter: Parth Verma
Session: Poster Display
Resources:
Abstract
378P - A real-world retrospective analysis of the efficacy of pembrolizumab combined with chemotherapy as neoadjuvant treatment for locally advanced head and neck squamous cell carcinoma (LA HNSCC)
Presenter: zhu Liu
Session: Poster Display
Resources:
Abstract
379P - Nimotuzumab in combination with chemoradiation for patients with intermediate stage and locally advanced nasopharyngeal carcinoma: A retrospective comparative analysis using 5-year real-world survival data
Presenter: Andhika Rachman
Session: Poster Display
Resources:
Abstract
380P - An epidemiological analysis on the prevalence of oral cancer and its awareness among Irula tribes of South India
Presenter: Delfin Lovelina Francis
Session: Poster Display
Resources:
Abstract
381P - P16INK4 over-expression, early stages, keratinization, and surgical margin-free status are associated with better prognosis of oral squamous cell carcinoma (OSCC)
Presenter: Sumadi Lukman Anwar
Session: Poster Display
Resources:
Abstract
382P - Oral health disparities in privileged and underprivileged tribes of south India: A study of the prevalence of precancerous oral lesions
Presenter: Shanavas Palliyal
Session: Poster Display
Resources:
Abstract