QGenome and cystic renal disease – A tool to support healthcare professionals with specialist referrals and genomic testing
QGenome’s recently launched renal genomics page sheds some light on renal genomic testing and referral eligibility to specialist Nephrology services for patients and/or families with common genetic kidney conditions such as cystic renal disease, also known as autosomal dominant polycystic kidney disease (ADPKD).
Case study 1
Adam is a 41-year-old gentleman. He attends his GP surgery and mentions he has a family history of ADPKD, with his father, paternal aunt, and paternal grandmother all being affected with the condition. Adam’s GP opens QGenome’s “Renal genomics” page and finds the “Cystic renal disease - Risk assessment” workflow, which denotes that ADPKD typically presents with renal cysts and a family history of the condition. Adam has not had any renal imaging previously. The GP asks Adam if he has other features of ADPKD (as highlighted in QGenome) such as hypertension, recurrent urinary tract infections, renal stones, or loin pains. Adam has none of these features.
The workflow recommends Adam should be referred to his local Nephrology Department or ADPKD clinic for assessment and management. It also prompts the GP to consider organising the following investigations for Adam alongside the referral: blood pressure measurement, assessment for proteinuria, renal imaging, and kidney function tests.
Case study 2
Emma is a 37-year-old woman who is known to have ADPKD. Her father and her brother are also affected with the condition. Genetic testing has not been performed in the family, and Emma’s diagnosis was made based on her renal cysts and family history. Emma is planning to start a family and has read about preimplantation genetic testing for monogenic disease (PGT-M), a laboratory procedure used in conjunction with in vitro fertilization (IVF) to reduce the risk of passing on inherited conditions. For PGT-M, a familial pathogenic (disease causing) variant has to be identified.
Emma attends her routine yearly follow-up appointment with her local Nephrology service, and asks about PGT-M. Emma’s Nephrologist opens QGenome’s “Cystic renal disease - Genomic testing” workflow, which highlights that the mainstay in diagnosing cystic kidney disease is renal imaging via ultrasound or MRI. However, genetic testing for cystic renal disease is considered in certain circumstances, for example when testing is required to inform family planning options, such as prenatal and preimplantation genetic testing.
Emma’s Nephrologist uses the forms available on QGenome to request her test (Test request form) and obtain her consent (Record of discussion). Emma’s results could subsequently be used to arrange a formal referral to the PGT-M service for further family planning discussions.
QGenome is an intuitive rapid genomic assessment tool that can be used by clinicians in primary and secondary care settings to benefit patients and families with common genetic renal conditions.
Have you seen a patient or a family recently with cystic renal disease, and wondered if they could benefit from QGenome? Why not download it and try it today…