May 2023 includes the 30th (Pearl!) anniversary of the identification of the VHL gene!
This landmark event marked the culmination of a many years of research but was also the starting point for much more research to unravel the function of the VHL gene product and that research eventually led to the development and a clinical trial of a new drug (belzutifan) for the medical treatment of VHL disease. Whilst there are still many more questions to answer and challenges to overcome in research into VHL disease, anniversaries do often provide an opportunity to look back and see how far along the journey we have come.
For me such a time was last year when we published the results of a national audit of most of the centres who look after patients with VHL disease:
https://www.nature.com/articles/s41416-022-01724-7
Interesting findings were that though there were differences between centres (e.g. the largest centre had almost ten times as many patients as the smallest), what was striking was that all centres were ensuring that their patients had access to the regular screening recommended for the surveillance of VHL disease. As a result, most of tumours that were found during the study period were actually detected by scanning before they were causing any symptoms. This finding was very different from a study I had reported before the VHL gene was found – at that time the majority of brain and kidney tumours were being diagnosed only after they had caused some symptoms.
Despite the challenges the NHS is facing currently it is reassuring to know that the NHS does enable families with VHL disease to access the care they require irrespective of their financial status. Nevertheless, there is a pressing and urgent need to make further progress in early detection and treatment of VHL complications. Access to new treatments will hopefully come soon help but ongoing research will be required to see how these are best used and who will benefit most from them. Particularly for some of the rarer complications of VHL disease, there is still a need for more information on how to identify those that will progress and require intervention sooner. With support from VHL UK/Ireland, a national research registry for patients and families with inherited kidney tumour syndromes has been established and we are currently recruiting participants to the registry (see https://ukkidney.org/rare-renal/patient/inherited-renal-cancer-syndromes-0 or contact eamonn.maher@nhs.net for more details).
A long-term goal would be to be able to individualise screening and treatment to every patient so that scans might be focused more on those who will benefit most. Another ongoing research project (being performed with Dr Emma Woodward (Manchester Centre for Genomic Medicine) and scientists in California) aims to achieve this by investigating whether a new genetic blood test could be useful in detecting early stage kidney tumours in patients with VHL disease and related disorders. With the help of VHL UK/Ireland we have been able to recruit sufficient volunteers to the study and we are hoping to have the results of the research by the time of the next anniversary!
Eamonn Maher, Cambridge, May 2023
