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Kidney Week

Abstract: PO1610

Multidisciplinary Renal Genetics Clinics: Family Perspectives and Preferences

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Wilkins, Ella J., Victorian Clinical Genetics Services Ltd, Parkville, Victoria, Australia
  • Quinlan, Catherine, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia
  • Mallett, Andrew John, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia
  • Stark, Zornitza, Victorian Clinical Genetics Services Ltd, Parkville, Victoria, Australia
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 and reproductive planning, understanding of the test, and hopes and expectations relating to testing. Surveys included the Decision Regret, and Genetic Counselling Outcome scales.

Results

Of 221 respondents to the baseline survey (RR=72%), most preferred the multidisciplinary clinic model to seeing specialists in separate clinics (n=145, 70%). A better understanding of the condition and implications for relatives were most commonly ranked as the most important advantages of the multidisciplinary clinic (n=27, 47%). Respondents agreed they received enough information during pre-test counselling (n=180, 92%) and had the opportunity to ask questions (n=181, 94%). The majority of respondents understood that the test analyses many genes (n=115, 59%), causative variant(s) may not be identified (n=143, 73%), and results may be of uncertain significance (n=142, 73%). Despite this, 44% of respondents thought the test was likely / highly likely to identify the cause of the condition (n=85).

Conclusion

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 .