Australian patients' and families’ perspectives on genome sequencing
Genetic Alliance Australia (GA) has released the results of a twelve month project looking into the perspectives and needs of Australian patients and families who are considering genome sequencing. This comprehensive report is the first of its kind in Australia and serves as a reference guideline with twenty-one recommendations over six identified themes for relevant stakeholders to consider when incorporating genomics and testing services into the healthcare system. The report also contains two Case Studies and a Patient Charter aimed at providing guidance to those considering having their genome sequenced.
The project commenced September 2015 out of an expressed need by GA members to clarify perceptions of genome sequencing and to better understand the impact on families affected by diagnosed and undiagnosed genetic conditions. Over 400 genetic and rare disease patients, carers and family members participated in the national online survey as part of the project. Concerns such as informed consent, financial cost, clinical benefit, incidental findings, privacy and other aspects were explored in the project. A focus group was held to further explore the prominent issues which arose. The project highlighted that patients and families have high expectations about what genome sequencing can offer them. The potential to find a diagnosis or to learn more about their condition and what lies in store for the future was a high priority. Heather Renton, Founder of Syndromes Without a Name (SWAN) Australia says "Having a diagnosis can relieve uncertainty, anxiety, isolation and frustration. It leads to better treatment plans and allows you to plan for the future". The project also emphasised the importance of health professionals being educated in genomics, risks and benefits, and how to communicate results appropriately to patients.
The report is timely as Australia progresses towards providing clinical genome sequencing to the public. In 2014 the NSW Government invested $24m over four years into the Sydney Genomics Collaborative Program. A private clinical genome sequencing company Genome.One was established in July this year at the Garvan Institute of Medical Research and St Vincent's Hospital in Darlinghurst recently opened a Clinical Genomics Unit providing genomic testing and genetic counselling to individuals with a wide variety of diseases.
All media enquiries and interview requests to Dianne Petrie OAM, Executive Director, Genetic Alliance Australia +61 2 9295 8359.
Access the report here