Lessons learned from a multidisciplinary renal genetics clinic.
BACKGROUND
Inherited renal disorders comprise a significant proportion of cases in both paediatric and adult nephrology services. Genetic advances have advanced rapidly while clinical models of care delivery have remained static.


OBJECTIVE
To describe a cohort of patients attending a multidisciplinary renal genetics clinic and the insights gained from this experience.


METHODS
A retrospective review of clinic cases and their molecular genetic diagnosis over a 5-year period.


RESULTS
We report details of 244 individuals including 80 probands who attended the clinic. The commonest reasons for referral was familial haematuria which accounted for 37.5% of cases and cystic kidney disease, accounting for 31% of cases. Eighteen probands had a known molecular genetic diagnosis and were referred for genetic counselling and screening of at risk relatives and management plans. About 62 probands and their families were referred for a precise molecular diagnosis and this was achieved in 26 cases (42%). The most frequent new genetic diagnoses were COL4A5 mutations underlying familial haematuria and familial end stage renal disease. The clinic also allowed for patients with rare renal syndromes to be reviewed, such as ciliopathy syndromes, allowing detailed phenotyping and often a precise molecular genetic diagnosis to be provided.


CONCLUSIONS
The integration of modern day genetics and genomics into multidisciplinary clinics often allows a precise diagnosis which benefits patients, their relatives and the clinicians providing care and future management.
Newcastle University, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
S
S
Alkanderi
Newcastle University, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.|Northern Genetics Service, International Centre for Life, Central Parkway, Newcastle NE1 3BZ, UK.
L M
LM
Yates
Great North Children's Hospital, Newcastle upon Tyne, NE1 4LP, UK.
S A
SA
Johnson
Newcastle University, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.|Renal Services, Newcastle upon Tyne NHS Foundation Trust Hospitals, Newcastle upon Tyne NE7 7DN, UK.
J A
JA
Sayer
D000293:Adolescent; D000328:Adult; D000554:Ambulatory Care Facilities; D002648:Child; D002675:Child, Preschool; D024141:Collagen Type IV / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006417:Hematuria / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000453:epidemiology; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012017:Referral and Consultation; D012189:Retrospective Studies; D006113:United Kingdom; D055815:Young Adult
C478159:COL4A5 protein, human; D024141:Collagen Type IV