New Clinic Streamlines Testing of Genetic Renal Diseases

In September 2015, the Division of Nephrology and Hypertension and Division of Human Genetics at Cincinnati Children’s jointly launched a monthly Genetic Renal Diseases Clinic to help standardize and streamline genetic testing for patients with certain kidney conditions. Patients referred to the Genetic Renal Diseases Clinic are evaluated by a team that includes pediatric nephrologist Bradley Dixon, MD; geneticist Nicole Weaver, MD; and genetic counselor Lisa Berry, LGC. To date, increasing numbers of adult and pediatric providers have been making referrals to this clinic, not only from across Ohio and surrounding states, but also from as far away as the UAE, Kuwait and Qatar.

In general, two types of patients can best benefit from this clinic. One is the patient with an uncommon kidney condition (e.g., proteinuria, nephrocalcinosis), who may not typically receive a genetic workup, but who has evidence of disease in other organ systems. In such cases, the team tries to determine whether there may be a unifying genetic cause, and how best to approach testing for that genetic cause.

The other type is the patient with a kidney-limited condition in which a genetic evaluation is generally indicated. Through the clinic visit for these patients, the team determines which genetic tests to order, which labs offer them and how to negotiate insurance approval. This diagnostic evaluation ultimately leads to genetic confirmation in many, if not most, patients. In addition to diagnostic evaluation, if referring providers desire, Dixon may assume the management of these patients’ genetic renal conditions through this clinic.

In addition to clinical evaluation, the Genetic Renal Diseases Clinic is in the process of developing research infrastructure to help identify patients with rare or unique kidney conditions who might benefit from testing that is only being done as part of current research efforts in the Division of Nephrology and Hypertension, and is not yet commercially available.

By synergizing genetic and renal expertise and evaluations, the new Cincinnati Children’s Genetic Renal Diseases Clinic is making it faster, easier and more cost effective to obtain clinically meaningful answers for patients.

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