A MALLETT1,2, C PATEL1,3, H MCCARTHY1,4, A MALLAWAARACHCHI1,5, Z STARK1,6, C SIMONS1,7, C QUINLAN1,8
1KidGen Renal Genetics Flagship, Australian Genomic Health Alliance, Murdoch Childrens Research Institute, Melbourne, VIC; 2Kidney Health Service, Royal Brisbane and Women’s Hospital, Brisbane, QLD; 3Genetic Health Queensland, Royal Brisbane & Women’s Hospital, Brisbane, QLD; 4Departments of Nephrology, Sydney Children’s Hospitals Network, Sydney, NSW; 5Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW; 6Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Melbourne, VIC; 7Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD; 8Department of Nephrology, Royal Children’s Hospital, Melbourne, VIC
Aim: To describe Australian participant choices to receiving potential incidental findings (Ifs) as part of participation in a nephrology research genomics project.
Background: Potential incidental findings (IFs) in genomics remain a concern for clinicians, scientists, patients and participants alike. The informed decisions taken by Australian participants with regards to IFs are unclear.
Methods: Retrospective review of consent towards IFs was undertaken within a national study of diagnostically refractory inherited kidney disease (05/2014-04/2017). Relative risk, Mann-Whitney U-Test and T-Test analyses were undertaken to assess relationships between audited variables.
Results: 133 participants from 33 unrelated families participated. No IFs have been identified. 7/133 participants (5.3%) consented to not receive IFs. There were not statistically significant differences between those consenting to receive IFs or not in terms of gender (male 50.8% vs 57.1%, p=0.73), median age (39.42yrs vs 45.62yrs, p=0.52), being personally affected by the inherited kidney disease of interest (46vs57%, p=0.53), consanguinity (18% vs 0%, p=0.43), relationship to affected family member/s (p=0.24-0.37), or the specialty of the consenting clinician (p=0.19-0.58)
There was however, a statistically significant difference towards consenting to not receive IFs amongst those with a family history of another non-renal potentially inheritable disorder (57.1% vs 8.7%, RR6.55, p<0.0001) and if the inherited kidney disease of interest had proposed autosomal dominant inheritance (71.4% vs 30.2%, RR2.37, p<0.0001).
Conclusions: The majority of Australian research participants are likely to consent to receive potential IFs. All genetic study participants should be provided with genetic counselling and informed consent prior to participation. Several circumstances may impact upon a participant’s consenting choices.