Nephrology is the study of the kidneys in both health and disease, and the role of a nephrologist is to diagnose and treat disorders of the kidneys.
Kidney disease is generally diagnosed through a combination of blood tests, urine tests, and kidney imaging. These values, taken together, help to tell you how well your kidneys are working to clean your blood.
At least 10% of adults and the vast majority of children who receive kidney replacement therapy have an inherited kidney disease. That’s why nephrologists are more likely to do genetic testing. If your nephrologist is looking at your genes, they will know whether you have an inherited kidney disease or not.
With potential therapies in development and more nephrology clinical trials than in years past, there’s hope to manage patients beyond just supportive care.
The purpose of a talk about genetic testing is to make an informed choice of whether to test or not to test—or take another action before you have genetic testing. Talk to your primary care doctor, who can help you decide whether to consult with a genetics professional.
A medical geneticist is a doctor who specializes in several areas of medicine, from developmental and hereditary disorders to cancer and prenatal genetics. A genetic counselor has a master’s degree in genetics and is a specialist in interpreting genetic test results and family medical histories.
The usefulness of genetic testing differs widely from one disease to the next. A targeted genetic test can confirm the presence of a specific single disease, which is the most useful scenario if you are already having symptoms.
The clinical benefit of genetic testing can provide confirmation of a diagnosis or, just as importantly, can exclude a diagnosis of serious concern. Genetic testing can also help confirm or rule out an inherited condition among a patient’s relatives who don’t have signs or symptoms.
