The ARRK working group believe that this is an exciting time in the field of rare kidney disease research. There have been a number of advances which mean that we should be able to undertake more powerful studies with more meaningful results for patients and their families.
Firstly, Rare Disease is now globally considered to be a major burden on health resources and as such is deserving of greater investment to improve understanding of causality, therapeutic strategies and overall outcomes. Integral to this, is the belief that international collaboration is required for success. Patient Registries are a core component of this work.
Secondly, the ability to read a person’s genetic code has moved from research tool to clinical application within a matter of a few years. The cost of reading the first human genome was US$12 billion but has now decreased to a few thousand dollars. The difficulty is not undertaking the sequencing but knowing how best to integrate it into clinical care and how to navigate the potential pitfalls that this technology poses. In particular, who should undergo this test, who will pay for it and can we prove that it will be beneficial for the patient and cost effective in the long run? Lastly and one of the most important aspects of the technology is what to do when we find something incidentally that were not looking for but has major health implications.
In Australia, there is a national study underway to answer some of these and other questions pertaining to the new genetic sequencing technology and its integration into clinical care. A number of rare disease flagships were identified as being suitable to study this in detail and renal was one of those picked. The renal collaboration is known as KIDGEN and has a separate website.