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Pilot Study of Return of Genetic Results to Patients in Adult Nephrology

Nestor, Jordan Gabriela; Marasa, Maddalena; Milo-Rasouly, Hila; Groopman, Emily; Husain, Syed Ali; Mohan, Sumit; Fernandez, Hilda Elena; Aggarwal, Vimla S.; Ahram, Dina; Vena, Natalie; Bogyo, Kelsie; Bomback, Andrew S.; Radhakrishnan, Jai; Appel, Gerald B.; Ahn, Wooin; Cohen, David Jonathan; Canetta, Pietro A.; Dube, Geoffrey; Rao, Maya K.; Morris, Heather; Crew, Russell J.; Sanna-Cherchi, Simone; Kiryluk, Krzysztof; Gharavi, Ali G.

Background and objectives: Actionable genetic findings have implications for care of patients with kidney disease, and genetic testing is an emerging tool in nephrology practice. However, there are scarce data regarding best practices for return of results and clinical application of actionable genetic findings for kidney patients.
Design, setting, participants and measurements: We developed a Return of Results workflow in collaborations with clinicians for the retrospective re-contact of adult nephrology patients who had been recruited into a biobank research study for exome sequencing and were identified to have medically actionable genetic findings.
Results: Using this workflow, we attempted to re-contact a diverse pilot cohort of 104 nephrology research participants with actionable genetic findings encompassing 34 different monogenic etiologies of nephropathy and five single-gene disorders recommended by the American College of Medical Genetics and Genomics for return as medically actionable secondary findings. We successfully re-contacted 64 (62%) participants and returned results to 41 (39%) individuals. In each case, the genetic diagnosis had meaningful implications for the patients’ nephrology care. Through implementation efforts and qualitative interviews with providers, we identified over 20 key challenges associated with returning results to study participants, and found that physician knowledge gaps in genomics was a recurrent theme. We iteratively addressed these challenges to yield an optimized workflow, which included standardized consultation notes with tailored management recommendations, monthly educational conferences on core topics in genomics, and a curated list of expert clinicians for cases requiring extra-nephrologic referrals.
Conclusions: Developing the infrastructure to support return of genetic results in nephrology was resource-intensive, but presented potential opportunities for improving patient care.

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Title
Clinical Journal of the American Society of Nephrology
DOI
https://doi.org/10.2215/CJN.12481019

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