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 and Navigating Mental Health Resources in the Community through a Case Study

@#This article shows how Primary Care Physicians can manage stable chronic schizophrenia with complex psycho-social issues in the community. This is made possible through improved access to mental healthcare services. The case study highlights the utilisation of the Mental Health-GP Partnership Programme and Community Mental Health Team to facilitate a smooth transition and maintenance of mental well-being in the community. Resources like Aged Psychiatry Community Assessment and Treatment Service, Assessment and Shared Care Teams, Community Intervention Teams are discussed as well as future directions to strengthen care in the community.