APOL1 Genetic Testing Program for Living Donors

NCT04910867 | Active Not Recruiting DMC

• 1 other identifier: R01DK128207
• Study Type: interventional
• Target: 206
• Locations: 1 country
• Sites: 2

Brief Summary

Living donor (LD) kidney transplantation is the optimal treatment for patients with end-stage kidney disease (ESKD). However, LDs take on a higher risk of future ESKD themselves. African American (AA) LDs have an even greater, 3.3-fold, risk of ESKD than white LDs post-donation. Because evidence suggests that Apolipoprotein L1 (APOL1) risk variants contribute to this greater risk, transplant nephrologists are increasingly using APOL1 testing to evaluate LD candidates of African ancestry. However, nephrologists do not consistently perform genetic counseling with LD candidates about APOL1 due to a lack of knowledge and skill in counseling about APOL1. Without proper counseling, APOL1 testing will magnify LD candidates' decisional conflict about donating, jeopardizing their informed consent. Given their elevated risk of ESRD post-donation, and AAs' widely-held cultural concerns about genetic testing, it is ethically critical to protect AA LD candidates' safety through APOL1 testing in a culturally competent manner to improve informed decisions about donating. No transplant programs have integrated APOL1 testing into LD evaluation in a culturally competent manner. Clinical "chatbots," mobile apps that use artificial intelligence to provide genetic information to patients and relieve constraints on clinicians' time, can improve informed treatment decisions and reduce decisional conflict. The chatbot "Gia," created by a medical genetics company, can be adapted to any condition. However, no chatbot on APOL1 is currently available. No counseling training programs are available for nephrologists to counsel AA LDs about APOL1 and donation in a culturally competent manner. Given the shortage of genetic counselors, increasing nephrologists' genetic literacy is critical to integrating genetic testing into practice. The objective of this study is to culturally adapt and evaluate the effectiveness of an APOL1 testing program for AA LDs at two transplant centers serving large AA LD populations (Chicago, IL, and Washington, DC). The APOL1 testing program will evaluate the effect of the culturally competent testing, chatbot, and counseling on AA LD candidates' decisional conflict about donating, preparedness for decision-making, willingness to donate, and satisfaction with informed consent. The specific aims are to:

1. 1.Adapt Gia and transplant counseling to APOL1 for use in routine clinical practice
2. 2.Evaluate the effectiveness of this intervention on decisional conflict, preparedness, and willingness to donate in a pre-post design
3. 3.Evaluate the implementation of this intervention into clinical practice by using the RE-AIM framework to longitudinally evaluate nephrologist counseling practices and LDs' satisfaction with informed consent.

Conditions

Chronic Kidney Diseases; Apolipoprotein L1; Kidney Transplantation

Keywords

Genetics; Implementation research; Healthcare disparities; Ethics; Informed consent; Safety; African continental ancestry group; genetic counseling; Culturally competent care; Electronic health records; Decision support systems, clinical; Decision making; Live kidney donation; Shared decision making; Artificial intelligence; Surveys and questionnaires; Qualitative research; Clinical trial

Outcome Measures

Primary Outcomes (4)

• Decisional Conflict Scale (DCS)

  The Decisional Conflict Scale will measure donor candidates' perceived uncertainty in decision-making about donating and satisfaction with effective decision-making. Scores range from: 0-100 Higher scores reflect greater decisional conflict (a worse outcome).

  Day 1

• Decisional Conflict Scale (DCS)

  The Decisional Conflict Scale will measure donor candidates' perceived uncertainty in decision-making about donating and satisfaction with effective decision-making. Scores range from: 0-100 Higher scores reflect greater decisional conflict (a worse outcome).

  Approximately Day 7

• Decisional Conflict Scale (DCS)

  The Decisional Conflict Scale will measure donor candidates' perceived uncertainty in decision-making about donating and satisfaction with effective decision-making. Scores range from: 0-100 Higher scores reflect greater decisional conflict (a worse outcome).

  Approximately Day 30

• Decisional Conflict Scale (DCS)

  The Decisional Conflict Scale will measure donor candidates' perceived uncertainty in decision-making about donating and satisfaction with effective decision-making. Scores range from: 0-100 Higher scores reflect greater decisional conflict (a worse outcome).

  Approximately Day 60

Secondary Outcomes (11)

• Preparation for Decision Making Scale (PDMS) Scores range from: Higher scores reflect greater preparation for decision making (a better outcome)

  Day 1

• Preparation for Decision Making Scale (PDMS) Scores range from: Higher scores reflect greater preparation for decision making (a better outcome)

  Approximately Day 7

• Preparation for Decision Making Scale (PDMS) Scores range from: Higher scores reflect greater preparation for decision making (a better outcome)

  Approximately Day 30

• Preparation for Decision Making Scale (PDMS) Scores range from: Higher scores reflect greater preparation for decision making (a better outcome)

  Approximately Day 60

• Willingness to Donate Scores range from: 0 to 10. Higher scores reflect greater willingness to donate.

  Approximately Day 1

Study Arms (2)

Control Arm

NO INTERVENTION

No intervention will be administered. Usual care will be administered.

Intervention Arm

EXPERIMENTAL

APOL1 testing program

Behavioral: Components of Genetic Counseling; Diagnostic Test: APOL1 genetic testing; Other: EHR integration

Interventions

Components of Genetic Counseling BEHAVIORAL

The APOL1 testing program is designed to help living donor candidates to reduce their decisional conflict and enhance their informed consent regarding living donation. This intervention component entails: (1) an artificial intelligence-based conversational agent "chatbot" providing foundational information about the relationship between APOL1 and kidney disease and living donor outcomes, and APOL1 testing. The chatbot helps to relieve the workload on clinicians and scale up information giving. (2) The transplant nephrologist counseling component includes discussion about the APOL1 test results and shared decision making about donation, in a culturally competent manner, so as to enhance donor candidates' informed consent for living donation.

Intervention Arm

APOL1 genetic testing DIAGNOSTIC_TEST

APOL1 genetic testing will be performed while live kidney donor candidates are undergoing donor evaluation to identify whether they are at elevated risk of kidney disease post-donation. This risk information is expected to better enable donor candidates to make meaningful informed decisions about donating.

Intervention Arm

EHR integration OTHER

APOL1 genetic test results will be integrated into the electronic health record to provide clinical decision support to transplant nephrologists in evaluating donor candidates.

Intervention Arm

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Living kidney donor candidates who identify as African American/Black, Jamaican, Barbadian, Grenadian, Brazilian from Salvador Trinidadian, Panamanian, Honduran, Haitian, Garifunan, Palenque, Guyanese, Dominican, Peruvian, Belizean, and Native American, or state that they have African ancestry or are aware of having biologically-related family with African ancestry
• Living kidney donor candidates may be directed or non-directed donors
• Adults (ages 18+)
• English-speaking
• Cognitively intact individuals
• All genders

You may not qualify if:

• Individuals who do not identify as African American/Black and are not aware of having any biologically-related family with African ancestry and do not have African ancestry
• Only African Americans and people of African ancestry will be included because APOL1 risk variants are predominantly found in African Americans and people who have African ancestry.
• Pregnant women cannot be living kidney donors

Sponsors & Collaborators

• Northwestern University: lead
• Georgetown University: collaborator

Study Sites (2)

Medstar Georgetown Transplant Institute

Washington D.C., District of Columbia, 20007, United States

Location

Northwestern University Feinberg School of Medicine

Chicago, Illinois, 60611, United States

Location

Related Publications (1)

• Smith JD, Agrawal A, Wicklund C, Duquette D, Friedewald J, Rasmussen LV, Gacki-Smith J, Tandon SD, Muhammad LN, Yancy CW, Dong S, Cooper M, Gilbert A, Shetty A, Gordon EJ. Implementation of a culturally competent APOL1 genetic testing programme into living donor evaluation: A two-site, non-randomised, pre-post trial design. BMJ Open. 2023 May 15;13(5):e067657. doi: 10.1136/bmjopen-2022-067657.

  PMID: 37188469 DERIVED

MeSH Terms

Conditions

Renal Insufficiency, Chronic

Condition Hierarchy (Ancestors)

Renal Insufficiency; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Elisa J Gordon

  Northwestern University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: SEQUENTIAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Model Details: A non-randomized, pre-post design. Data will be collected from participants at both sites during a control period, prior to implementing the intervention, and during an intervention period, under the proposed APOL1 genetic testing program.

Study Record Dates

• First Submitted: May 8, 2021
• First Posted: June 2, 2021
• Study Start: September 9, 2021
• Primary Completion: March 31, 2026
• Study Completion: March 31, 2026
• Last Updated: July 25, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)