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Kidney Week

Abstract: SA-PO544

Designing a Protocol for Return of Research Genetic Results to Adult and Pediatric Patients in NEPTUNE: A Multicenter Nephrotic Syndrome Cohort

Session Information

  • Genetic Diseases: Diagnosis
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

  • 1102 Genetic Diseases of the Kidneys: Non-Cystic


  • Fishbein, Jennifer, Boston Children's Hospital, Boston, Massachusetts, United States
  • Lienczewski, Chrysta C., University of Michigan, Ann Arbor, Michigan, United States
  • Uhlmann, Wendy R., University of Michigan, Ann Arbor, Michigan, United States
  • Roberts, J. Scott, University of Michigan, Ann Arbor, Michigan, United States
  • Sampson, Matt G., Boston Children's Hospital, Boston, Massachusetts, United States

Group or Team Name

  • NEPTUNE, University of Michigan

The Nephrotic Syndrome Study Network (NEPTUNE), an observational cohort study of proteinuric kidney disease, is identifying patients with variants in Mendelian nephrotic syndrome genes. Return of research genetic results may have clinical benefits for participants. However, there is limited literature on how to return results in pediatric and multicenter studies. Some challenges and unanswered questions include returning secondary findings, communicating with patients, involving providers and paying for the process. Here we describe an initial protocol for return of results (ROR) for NEPTUNE.


We determined that only putative pathogenic, monogenic causes of nephrotic syndrome and high-risk APOL1 genotype will be returned to patients. We conducted a needs assessment of all principal investigators in NEPTUNE (n=29) using an online survey, to understand the levels of expertise and resources across recruitment sites in order to operationalize ROR at each one. We asked about current presence of genetics clinics, use and comfort level with clinical genetic testing, and whom they would like to return results. To support clinicians, we created genetic information sheets and templates for communicating results in the chart and to patients.


27 sites completed the needs assessment. 82% (n=22) have a genetics clinic at their institution and among those, 32% (n=7) have a nephrology specific genetics clinic. 88.9% (n=24) of divisions have providers that already regularly order genetic testing, most commonly kidney genetics panel (n=23). 59% (n=16) of institutions can handle ROR independently. The remaining sites requested counseling and educational support through NEPTUNE. We created templates for a letter to notify patients, telephone script to follow-up with patients, a genetic counseling clinic note, and a family letter to be given to patients.


We have created a protocol to return genetic results to patients in NEPTUNE that addresses the unique challenges of a multicenter cohort including pediatric patients. The variability in resources and knowledge about genetic testing amongst nephrology divisions highlighted a need for support for ROR. Our protocol is generalizable to other research studies that aim to implement return of research genetic results.