Missed diagnosis or misdiagnosis: Common pitfalls in genetic testing

Genetic testing has the power to identify individuals with increased predisposition to disease, allowing individuals the opportunity to make informed management, treatment and reproductive decisions. As genomic medicine continues to be integrated into aspects of everyday patient care and the indications for genetic testing continue to expand, genetic services are increasingly being offered by non-genetic clinicians. The current complexities of genetic testing highlight the need to support and ensure non-genetic professionals are adequately equipped with the knowledge and skills to provide services. We describe a series of misdiagnosed/mismanaged cases, highlighting the common pitfalls in genetic testing to identify the knowledge gaps and where education and support is needed. We highlight that education focusing on differential diagnoses, test selection and result interpretation is needed. Collaboration and communication between genetic and non-genetic clinicians and integration of genetic counsellors into different medical settings are important. This will minimise the risks and maximise the benefits of genetic testing, ensuring adverse outcomes are mitigated.

Understanding cancer predisposition in Singapore: What's next

Knowledge of an underlying genetic predisposition to cancer allows the use of personalised prognostic, preventive and therapeutic strategies for the patient and carries clinical implications for family members. Despite great progress, we identified six challenging areas in the management of patients with hereditary cancer predisposition syndromes and suggest recommendations to aid in their resolution. These include the potential for finding unexpected germline variants through somatic tumour testing, optimal risk management of patients with hereditary conditions involving moderate-penetrance genes, role of polygenic risk score in an under-represented Asian population, management of variants of uncertain significance, clinical trials in patients with germline pathogenic variants and technology in genetic counselling. Addressing these barriers will aid the next step forward in precision medicine in Singapore. All stakeholders in healthcare should be empowered with genetic knowledge to fully leverage the potential of novel genomic insights and implement them to provide better care for our patients.

Characteristics of unplanned hospitalisations among cancer patients in Singapore

INTRODUCTION@#Cancer is a pervasive global problem with significant healthcare utilisation and cost. Emergency departments (EDs) see large numbers of patients with oncologic emergencies and act as "gate-keepers" to subsequent hospital admissions. A proportion of such hospital admissions are rapidly discharged within 2 days and may be potentially avoidable.@*METHODS@#Over a 6-month period, we conducted a retrospective audit of active cancer patients presenting to the ED with subsequent admission to the Department of Medical Oncology. Our aims were to identify independent factors associated with a length of stay ≤2 days; and characterise the clinical and resource needs of these short admissions.@*RESULTS@#Among all medical oncology admissions, 24.4% were discharged within 2 days. Compared to longer stayers, patients with short admissions were significantly younger (@*CONCLUSION@#Short admissions have low resource needs and may be managed in the ED. This may help save valuable inpatient bed-days and reduce overall healthcare costs.