One in 17 people in the UK has a rare disease, and 80% of these have a known genetic origin.
Understanding of genetic disease has developed quickly and an understanding of practical aspects of genetic testing has become a skill for clinicians in all disciplines.
In 2004, a renal kidney genetics clinic was set up in the West Midlands. This clinic supports doctors caring for people and families with known or suspected genetic kidney conditions. It includes general genetics clinics and clinics for specific kidney diseases, offering testing and genetic counselling.
Renal MDT Genetic Clinic
The renal genetic clinic provides specialised care for patients and their families who are affected or at risk of inherited kidney disease. Management of often rare and complicated kidney conditions is provided by nephrologists, a clinical geneticist and specialist nurses.
Who we see
We see patients with known or suspected genetic kidney diseases, which include:
- Cystic disease & nephronophthisis
- Glomerular disease
- Tubulopathies
- Tubulointerstitial disease
- Familial stone disease
- Unexplained Chronic Kidney Disease (CKD)
- Potential living kidney donors
Our services
- Assessment: in-depth assessment of medical and family history
- Genetic counselling: pre and post-test counselling to explain the implications of genetic testing for patients and their families
- Genetic testing: using specialised renal genetic panels and whole genome sequencing
- Personalised management: assessment/recommendation of treatments to the specific condition
- Cascade screening: identify and facilitate cascade screening of 'at risk' family members
Bardet-Biedl Syndrome (BBS) clinic
BBS is a rare disease that affects fewer than 1,000 people in the UK. It can cause many different health problems. These may include learning difficulties, vision problems, extra fingers or toes, weight gain, diabetes, and kidney problems. Because BBS is complex, managing the condition requires a co-ordinated, multi-specialty approach.
Queen Elizabeth Hospital Birmingham is part of a national NHS service for people with BBS. It works with Birmingham Children’s Hospital, Guy’s and St Thomas’, and Great Ormond Street Hospital. Our clinic offers testing and regular check-ups for adults with BBS across Birmingham, northern England, Wales, Scotland, and Ireland.
The clinic is a multidisciplinary service that includes nephrology, ophthalmology, endocrinology, clinical genetics, psychology and support from the patient charity BBS UK.
Autosomal Dominant Polycystic Kidney Disease (ADPKD clinic)
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a significant cause of kidney failure in the UK. Half of patients with ADPKD reach end stage kidney disease by their mid-fifties.
Tolvaptan is a medicine approved by the NHS in 2015. It is the only proven medication in patients with ADPKD that has been demonstrated to slow cyst growth and help protect kidney function.
The ADPKD clinic is run holistically, and the clinic helps manage the many problems caused by this condition. In this clinic:
- We assess patients to identify who would benefit from treatment, including Tolvaptan, in addition to the conventional therapy
- We educate patients about complications linked to ADPKD, such as pain, kidney stones, and kidney infections
- We arrange genetic tests if they are needed
- We offer genetic counselling, including advice about having children
- We can refer patients to other specialist services if they need extra support
Referral information
We accept referrals from primary and secondary care at:
Or directly from patients at:
Contact us
Last reviewed: 12 May 2026