Genetic Kidney Disease Clinic

Genetic Kidney Disease Clinic, Beaumont Hospital, Dublin  

Beaumont Hospital runs a national referral programme for the evaluation of Genetic kidney disease. The programme includes an inherited kidney disease clinic on an alternate week basis. Referrals are accepted from Nephrologists or GPs nationwide. In 2024, 200 patients were reviewed at our Genetic Kidney Disease Clinic.  

At this clinic, the clinical history and presentation, pedigree and imaging of referred cases are reviewed. Pathology, if available, is reviewed separately at a multidisciplinary meeting with renal pathologist and additional adult and paediatric nephrologists present.                    

Prof Conlon and his team provide clinical advice to patients based on available clinical information and discuss participation in research-based gene sequencing projects. Where appropriate, referral for diagnostic molecular testing and/or clinical genetics review is also made. The clinical applications resulting from this genetics clinic are manifold – it has led to establishment of a precise renal diagnosis for some families, enabled screening of appropriate family members and facilitated prognostication for certain individuals. It has also helped determine whether several potential kidney donors were suitable to proceed as donors. These cases arose in the setting of known familial kidney disease (eg polycystic kidney disease, Alport’s Syndrome) where the potential donor had not yet manifest clinically but was at risk of carrying the causative gene.

Since 2021 we have employed whole exome sequencing and to date sequenced 365 individuals from 255 families using this technique. In 2024, 80 cases were solved using whole exome sequencing. All cases are discussed in detail at a multi-disciplinary meeting involving, consultant nephrologists, clinical geneticists, specialist trainees in nephrology, clinical scientists, bioinformaticians and research nurses. A genetic diagnosis is found in approximately 50% of cases discussed.

What to expect at the clinic:

• Review by doctor or research nurse-  
• We will ask about your personal history of renal disease and your family history of renal disease. If you have blood tests, letters or scan reports regarding your renal disease this would be useful for us to review.
• We will explain the research projects we are running and the risks and benefits of genetic testing
• If you are happy to proceed with testing we will take blood and urine samples from you on this visit
• Genetic test results can take some time to process- up to 6 months and in some cases can be longer. We will call you or send you a letter on any updates.
• You may be asked to attend the clinic for a second visit where we explain results and take a second blood test to confirm our research results.
• If we find a genetic diagnosis we will write you a detailed report of these results, which you can share with your family if you wish.