E WILKINS1,2, C QUINLAN3, A MALLETT4, Z STARK1,2
1Victorian Clinical Genetics Services, Parkville, Australia, 2Murdoch Children’s Research Institute, Parkville, Australia, 3The Royal Children’s Hospital, Parkville, Australia, 4Royal Brisbane and Women’s Hospital, Herston, Australia
Aim and Background: Multidisciplinary renal genetics clinics (RGC) comprising nephrologists, clinical geneticists, and genetic counsellors operate in 15 public hospitals across Australia with the goal of providing family-centred care and definitive molecular diagnoses to patients. However, little is known about family perspectives of multidisciplinary clinics or of undergoing genomic testing in this context.
Methods: Patients having genomic testing were surveyed following initial RGC attendance and after results disclosure. We explored patient experiences of the clinic, perceived impact of the disease on the family, understanding of the test, and hopes and expectations relating to testing. Surveys included the Decision Regret, and Genetic Counselling Outcome scales.
Results: Response rates for survey one and survey two were 72% and 53% respectively. Most respondents preferred the multidisciplinary clinic model to seeing specialists in separate clinics (n=123, 70%). Optional free text comments emphasised the value respondents ascribed to receiving clear, consistent communication from the multidisciplinary team. The majority of respondents understood a genomic test analyses many genes (n=171, 58%), causative variant(s) may (n=157, 91%) or may not be identified (n=126, 73%), results may be of uncertain significance (n=126, 74%), and identified variant(s) may be passed down in the family (n=157, 91%). Following results disclosure, 81% (n=71) of respondents correctly described their result. Respondents agreed they received enough information during pre- and post-test counselling (n=160, 94% and n=81, 91%) and had the opportunity to ask questions before consenting to testing (n=160, 95%).
Conclusions: Understanding patient and family experiences and opinions, and the short- and long-term impacts on families will guide the design and delivery of RGCs and associated genomic testing programs. A full author list is available online at www.kidgen.org.au .
Ms Ella Wilkins is a genetic counsellor with a special interest in genetic kidney disease. She completed a Master of Genetic Counselling in 2013, having previously worked as a laboratory scientist in the area of human genetics. Ella is employed by Victorian Clinical Genetics Services and has coordinated The Royal Children’s Hospital Renal Genetics Clinic since its inception in 2016. Her research focuses on patient and family experiences of genetic testing and genetic counselling to inform clinical practice and support the provision of patient- and family-centred care. She is a member of KidGen (www.kidgen.org.au) and is passionate about empowering patients and families with genetic kidney disease. Ella also provides genetic counselling in general paediatric and adult genetics clinics in metropolitan Melbourne and regional Victoria.