Genetic Testing to Understand and Address Renal Disease Disparities (GUARDD)

Mount Sinai Health System

Status: Completed

Conditions: Chronic Kidney Disease; Hypertension; Genomics

Treatments: Other: Immediate Genetic Testing

Study type: Interventional

Funder types: Other

Identifiers

NCT02234063

GCO 12-1143

Details and patient eligibility

About

In this genomic medicine implementation pilot project, the investigators aim to conduct a randomized trial in a network of community health centers and primary care facilities to study processes, effects and challenges of incorporating information for apolipoprotein L1 (APOL1)-attributable genetic risk for end stage kidney disease in patients of African ancestry with hypertension .

Full description

CKD is most commonly associated with diabetes (40%) and hypertension (28%), and affects 26 million American adults. African ancestry populations with hypertension (HTN) have 2- to 3-fold higher risk of developing CKD, and a 5-fold increased risk to progress to end stage renal disease (ESRD) when compared with whites. HTN is a risk factor for progression of CKD and for increased cardiovascular risk with CKD. Thus targeting blood pressure control as a modifiable risk factor may both reduce CVD in people with CKD and reduce progression of CKD to end stage disease. Recent discoveries demonstrate that testable alleles of the APOL1 locus on chromosome 22 have a major effect on and explain almost all of the excess risk for hypertension-associated CKD and its progression to ESRD in African ancestry populations.

We will use community-engaged approaches to enroll patients of African Ancestry with HTN from a network of community health centers and primary care facilities in Harlem and the Bronx and randomize them on a 7 to 1 ratio to receive APOL1 genetic testing and EMR-enabled provider clinical decision support incorporating APOL1 genomic risk information.

Enrollment: 2,052 patients

Sex: All

Ages: 18 to 65 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Ages18-65
• Self-identifies as Black/African American
• History of hypertension
• Patient at a participating site

Exclusion criteria

• History of Chronic Kidney Disease
• History of Diabetes
• Pregnant
• Cognitively impaired/unable to provide consent
• Terminally ill
• Planning to leave area of study permanently during the one year study period

Trial design

Primary purpose: Prevention

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: Double Blind

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2,052 participants in 2 patient groups

Immediate Genetic Testing

Experimental group

Description:

Participants randomized to intervention will receive the APOL1 genetic test upon study enrollment.

Treatment:

Other: Immediate Genetic Testing

Control- Delayed Testing

No Intervention group

Description:

Participants randomized to control will not receive the APOL1 genetic test upon study enrollment. They will be offered the option to take the test during their final follow-up study visit (12 months post enrollment).