A decision-making framework for genomic testing in paediatric nephrology.

Abstract

Technological advances and increased access have led to genomics expanding beyond the genetics clinic. Consequently, nephrologists can now order genomic testing for their patients. Consistent decision-making around patient and test selection is required to ensure equitable access while maximising the utility of genomic testing. However, there are currently no frameworks to guide decision-making for testing in this context. We aimed to develop an ethical decision-making framework for genomic testing in paediatric nephrology. A three-stage approach was used: (i) review of the literature on decision-making for genomic testing in nephrology and other disciplines; (ii) ethnographic observation of approaches to genomic testing in the general nephrology and renal genetics clinics at an Australian paediatric hospital; (iii) review and revision of the framework with key stakeholders, including clinical geneticists, genetic counsellors, paediatric nephrologists and families from the renal genetics service. The initial framework was modified until consensus from key stakeholders was reached. A decision-making framework was created with questions designed to explore the impact of genomic testing on patient management, clinical validity, patient characteristics, alternatives to genomic testing, genetic counselling, resource availability, implications for family members, psychosocial considerations, patient autonomy, research, support services and insurance. Case studies were developed to demonstrate the framework's application. This framework was designed to guide decisions around patient selection for genomic testing in nephrology in the Australian health-care setting, with potential utility in other institutions and medical disciplines. It may help facilitate consistent approaches to genomic testing, to maximise equity and utility.