Description of Medical ServiceGenetic testing for inherited kidney disease (other than Alport syndrome), in order to provide an early and accurate diagnosis.The proposed service is for a nephrologist or geneticist to refer the patient for genetic testing, based on their clinical features. Most laboratories use whole exome sequencing (WES) and then examine likely genes for pathogenic variants. Testing occurs once in a lifetime for the index case, and once only in a simplified form, for other family members. Genetic testing indicates the diagnosis in the index case and affected family members. It enables treatment to delay renal failure in some cases; reduces time in the ‘diagnostic odyssey’, as well as ongoing testing costs; enables anticipation of complications and avoids kidney donation from an affected family member; enables accurate family planning; and names the disease, which is positive for patients and their clinicians. Genetic testing also excludes the disease diagnosis in unaffected family members with certainty.
Description of Medical ConditionThere are many causes of renal impairment: a genetic cause is identifiable in approximately 50% of children and 10% of adults (with end-stage renal failure). Many inherited kidney diseases are undiagnosed, which means affected individuals are not treated, subsequently developing kidney failure at a younger age. This requires more years of dialysis, and is also true for affected individuals’ undiagnosed family members. Most patients require at least three (3) years of dialysis before receiving a transplant. This is associated with high morbidity, including a 40-times increased death rate from heart disease than age and sex-matched controls.
Treatment with ACE (angiotensin-converting enzyme) inhibitors delays the onset of kidney failure in both the index cases with inherited kidney disease and their affected family members. In some cases, ACE inhibitor treatment delays the onset of kidney failure sufficiently long that affected individuals never need dialysis or a transplant. However, this depends on an early and accurate diagnosis through genetic testing.
Reason for ApplicationNew MBS item
Medical Service TypeInvestigative
Previous Application Number/sNot Applicable
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