title: Determining the effects and challenges of incorporating genetic testing into primary care management of hypertensive patients with African ancestry.
abstract: People of African ancestry (Blacks) have increased risk of kidney failure due to numerous socioeconomic, environmental, and clinical factors. Two variants in the APOL1 gene are now thought to account for much of the racial disparity associated with hypertensive kidney failure in Blacks. However, this knowledge has not been translated into clinical care to help improve patient outcomes and address disparities. GUARDD is a randomized trial to evaluate the effects and challenges of incorporating genetic risk information into primary care. Hypertensive, non-diabetic, adults with self-reported African ancestry, without kidney dysfunction, are recruited from diverse clinical settings and randomized to undergo APOL1 genetic testing at baseline (intervention) or at one year (waitlist control). Providers are educated about genomics and APOL1. Guided by a genetic counselor, trained staff return APOL1 results to patients and provide low-literacy educational materials. Real-time clinical decision support tools alert clinicians of their patients' APOL1 results and associated risk status at the point of care. Our academic-community-clinical partnership designed a study to generate information about the impact of genetic risk information on patient care (blood pressure and renal surveillance) and on patient and provider knowledge, attitudes, beliefs, and behaviors. GUARDD will help establish the effective implementation of APOL1 risk-informed management of hypertensive patients at high risk of CKD, and will provide a robust framework for future endeavors to implement genomic medicine in diverse clinical practices. It will also add to the important dialog about factors that contribute to and may help eliminate racial disparities in kidney disease.
authors.affiliation: Department of Population Health Sciences and Policy, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1077, New York, NY 10029, USA; Center for Health Equity and Community Engaged Research, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1077, New York, NY, 10029, USA; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, Annenberg Building, 18th Floor, Room 18-16, New York, NY 10029, USA. Electronic address: carol.horowitz@mssm.edu.
authors.forename: C R
authors.initials: CR
authors.lastname: Horowitz
authors.affiliation: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, Annenberg Building, 18th Floor, Room 18-16, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1022, New York, NY 10029, USA. Electronic address: noura.abul-husn@mssm.edu.
authors.forename: N S
authors.initials: NS
authors.lastname: Abul-Husn
authors.affiliation: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, Annenberg Building, 18th Floor, Room 18-16, New York, NY 10029, USA. Electronic address: steve.ellis@mountsinai.org.
authors.forename: S
authors.initials: S
authors.lastname: Ellis
authors.affiliation: Department of Population Health Sciences and Policy, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1077, New York, NY 10029, USA; Center for Health Equity and Community Engaged Research, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1077, New York, NY, 10029, USA. Electronic address: michelle.ramos@mountsinai.org.
authors.forename: M A
authors.initials: MA
authors.lastname: Ramos
authors.affiliation: Yale Institute for Network Science, Yale University, 17 Hillhouse Avenue, P.O. Box 208263, New Haven, CT 06520, USA. Electronic address: rennie.negron@yale.edu.
authors.forename: R
authors.initials: R
authors.lastname: Negron
authors.affiliation: Department of Population Health Sciences and Policy, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1077, New York, NY 10029, USA. Electronic address: maria.suprun@mountsinai.org.
authors.forename: M
authors.initials: M
authors.lastname: Suprun
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1022, New York, NY 10029, USA. Electronic address: randi.zinberg@mssm.edu.
authors.forename: R E
authors.initials: RE
authors.lastname: Zinberg
authors.affiliation: Department of Population Health Sciences and Policy, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1077, New York, NY 10029, USA. Electronic address: tatiana.sabin@mountsinai.org.
authors.forename: T
authors.initials: T
authors.lastname: Sabin
authors.affiliation: Institute for Family Health, 16 East 16th Street, New York, NY 10003, USA. Electronic address: dhauser@institute.org.
authors.forename: D
authors.initials: D
authors.lastname: Hauser
authors.affiliation: Center for Health Equity and Community Engaged Research, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1077, New York, NY, 10029, USA; Institute for Family Health, 16 East 16th Street, New York, NY 10003, USA. Electronic address: ncalman@institute.org.
authors.forename: N
authors.initials: N
authors.lastname: Calman
authors.affiliation: Department of Population Health Sciences and Policy, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1077, New York, NY 10029, USA. Electronic address: emilia.bagiella@mssm.edu.
authors.forename: E
authors.initials: E
authors.lastname: Bagiella
authors.affiliation: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, 1468 Madison Avenue, Annenberg Building, 18th Floor, Room 18-16, New York, NY 10029, USA; Berlin Institute of Health, Berlin, Germany. Electronic address: erwin.bottinger@mssm.edu.
authors.forename: E P
authors.initials: EP
authors.lastname: Bottinger
mesh_terms: D000293:Adolescent; D000328:Adult; D001741:Black or African American / Q000235:genetics*; D000368:Aged; D000075944:Apolipoprotein L1; D001053:Apolipoproteins / Q000235:genetics*; D003661:Decision Support Techniques; D005817:Genetic Counseling / Q000379:methods; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008075:Lipoproteins, HDL / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011320:Primary Health Care / Q000379:methods*; D051436:Renal Insufficiency, Chronic / Q000235:genetics*; D018570:Risk Assessment; D055815:Young Adult
chemical_list: C108666:APOL1 protein, human; D000075944:Apolipoprotein L1; D001053:Apolipoproteins; D008075:Lipoproteins, HDL
keywords: African ancestry; Chronic kidney disease; Community-based research; Disparities; Genetics; Race