Eligibility
Should I consider genomic testing for my patient?
These tools use a simple traffic-light system help you identify patients that may be suitable for genomic testing within your nephrology clinic, and patients that should be referred for genetics input prior to initiating testing.
Traffic light tool for adult patients
Traffic light tool for paediatrics
What are the risk factors for genetic kidney disease?
Risk factors for genetic kidney disease include one or more of the following:
- Young age (<35 years) of presentation
- Family history of kidney disease
- Parental consanguinity
- Persistent haematuria >6months, no obvious cause1
- CKD with bland urine (if other causes excluded, e.g. hypertension)
- ESKD <50 with unclear aetiology2
1. If a genomic diagnosis would negate the need for a renal biopsy, consider genomic testing prior to biopsy in diagnostic workup (Jayasinghe et al., 2021).
2. Based on the HIDDEN study (manuscript under review) the diagnostic yield was 10% in those without family history and 24% in those with a family history of kidney disease. Manuscript under review (Soraru et al., 2022).
Ordering
What test should I order?
This decision aid can help you decide which test is most appropriate for your patient.
How do I order a test?
This checklist has the key steps for ordering a Medicare-funded genomic test.
This is the protocol for renal mainstream genetic testing.
Use these order forms to request a Medicare-funded genomic test.
These resources refer to the Multidisciplinary Team (MDT) and Genetic Counsellor Support Line. Here’s how to access these services.
Consent and insurance
How do I explain the test and informed consent to my patients?
Informed consent
Consent for genetic and genomic testing follows the same principles of consent that govern all clinical practice in Australia. These resources from Australian Genomics can support an informed consent discussion.
- Consent form for clinical genomic testing (adult)
- Consent form for clinical genomic testing (parent/guardian)
- Patient fact sheet on genetic and genomic testing
- Health professionals guide for obtaining consent
The above video is for patients and their families who have had a genomic test through the Kidney Clinic. It will recap the information provided in clinic about the genomic test.
Insurance
This fact sheet explains how genetic and genomic testing may impact a patient's insurance policies.
Many life insurance companies have agreed to a moratorium that limits the use of genetic test results when assessing life insurance applications. Here are the key facts.
Results
How do I explain genomic results to patients?
This Visual Genomics Report will help you understand the contents of a genomic report, and explain relevant sections of the report to patients.
Please contact your local multidisciplinary team to discuss results prior to patient contact. You can also contact the Genetic Counsellor support line.
Patient information sheets
These information sheets help explain different kinds of genomic test results. They can be provided to patients.
- Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- Autosomal Dominant Alport Syndrome (ADAS)
- Autosomal Recessive Alport Syndrome (ARAS)
- X-linked Alport Syndrome (XLAS) - Female patient
- X-linked Alport Syndrome (XLAS) - Male patient
- Other genetic kidney condition
- No pathogenic variant found
- Variant of Uncertain Significance (VUS) found
If patients with a genetic diagnosis wish to discuss their reproductive options, this information sheet can help.
Want to speak to an expert?
Education
The KidGen program has a suite of modules to support nephrologists and trainees to use genomics in the management of kidney disease.