Genetics and the Future of CKD Treatment
Contributors: Andrea Rudy and Mark Elliott, MD, FRCPC
Genomics is one of the fastest growing fields in science, and new discoveries and technologies can be incredibly useful in helping to improve the treatment of chronic diseases and illnesses.
While many of us have a general understanding of genetics and its role in our traits, like eye colour or height, it is likely few of us know our own genome—complete genetic profile—and how important understanding it is for those of us living with CKD (chronic kidney disease). Knowing what causes CKD is vital in determining the best treatment. However, nearly 15% of people with CKD do not have a determined source for the disease, a diagnosis called CKDu—CKD of unknown cause.
Around one in four people with CKDu will have a genetic condition as the underlying cause that has yet to be diagnosed.
Recognizing that a clear diagnosis for patients with CKDu has a direct impact on their care, Dr. Mark Elliott of St. Paul’s Hospital and UBC developed a study to identify new gene-disease associations for CKDu. Leading the Genetic Studies of Chronic Kidney Disease with Drs. Adeera Levin and Mei Lin Bissonnette, the team hopes that discoveries will help improve treatment.
Genomics is one of the fastest growing fields in science, and new discoveries and technologies can be incredibly useful in helping to improve the treatment of chronic diseases and illnesses. Patients with genetic diagnoses will be able to access precision medicine-based approaches to their care with the goal of slowing down or even preventing disease progression. As the technology advances, it could also lead to potential cures for genetic kidney disorders.
The change in treatments towards precision medicine aims to reduce the impact of CKD, which is currently limited by a lack of cures and therapies.
Establishing a diagnosis for patients with CKDu will have a direct effect on their clinical care.
It will allow the use of targeted therapies and help avoid treatments that are known to be ineffective. CKDu patients would no longer have to face an odyssey of diagnostic testing and examinations. It could also have a positive impact on transplant donor selection and family planning. Discoveries may not only improve treatment for patients, they will also help family members of those living with CKDu to be tested for the linked genes and identify any undiagnosed genetic conditions.
Data collected from this study will be available for future research work that could have even more power to identify new treatments.