No Images? Click here Genomics For GPs Discussing rare diseasesIssue 3 Genomics for GPs is a monthly newsletter brought to you by CheckUP in collaboration with Queensland Genomics. It contains a range of resources on developments in the field of genomics in primary care in the Australian as well as global context, along with updates on the ongoing Queensland Genomics project which you can follow by clicking the button below.Genomics Primary Care Advisory GroupA Genomics Primary Care Advisory Group (PCAG) has been established as part of the Primary Care – Genomics for GPs Initiative to provide high level advice and guidance for the overall direction of the Initiative. The key purpose of the PCAG is to review and provide feedback on the implementation of a GP engagement strategy; provide advice on the content and roll-out of genomics education modules developed for GPs; and generate ideas to further support the integration of genomics in general practice. The first PCAG meeting was held on Tuesday the 15th of October and included representation from CheckUP, Queensland Genomics, Primary Health Networks, Queensland Aboriginal and Islander Health Council, general practice and consumer representatives. Consumers play an integral role to help inform and provide input into this initiative. The first meeting involved a number of valuable discussions including:
Meet the ConsumerAnnamarie Newton, 56, is a fellow Queenslander whose youngest child was diagnosed with a rare Chromosome Deletion (1q21.1). Subsequently, she too was diagnosed with an identical genetic condition. Annamarie, who also represents consumer interests on the Primary Care Advisory Group, shared with us her personal views and experiences in living with a rare genetic condition in Queensland. Click the button to read about her story. Success Stories - Genomics and Rare Diseases Based out of Los Angeles, the Rare Genomics Institute assists families and individuals suffering from potentially rare diseases by facilitating access to genomic diagnosis and precision medicine. The linked stories underline the application of genomic medicine in highly rare conditions with little available scientific knowledge. Follow the link to read about how the access to genomic services gave new hope to the Nelson and Snow families. Functional Genomics The Australian Functional Genomics Network is a platform to enhance the relationship between clinical teams discovering disease-causing genes in patients with rare disease and cancer, and model system research teams. All clinicians and diagnostic labs discovering genes or variants of unknown significance (GUS/VUS) in patients, and who want to promote research on the gene functions and the attributes of their variants are eligible to submit a gene to the Network. Key Events - Workforce and Infrastructure Development Queensland Genomics and their partner organisations regularly host workshops and information sessions on clinical workforce and infrastructure development. Examples of these sessions include training for interpreters on communication of genetic information, infection control workshops and seminars on the application of technology and genomic data in research. Genetic and Rare Disease Network The Genetic and Rare Disease Network (GaRDN) houses a range of information and resources for individuals, families and health professionals on genetic conditions, support groups, patient registries and information for carers. For health professionals, GaRDN also has an online register, support tools for clinical decision making and resources for undiagnosed conditions. Want to stay in the loop?This e-mail has been sent out from CheckUP to your organisation. To receive updates to your individual e-mail, subscribe to our newsletter by clicking on the link below. |