Advancing equitable implementation of genomic medicine in nephrology

There is an immense national investment in Precision Medicine, however fulfillment of its promises depends on broad utilization of genetic testing among nephrologists and patients, many of whom are from marginalized racial/ethnic minorities. Research demonstrates that genetic forms of kidney disease are relatively prevalent,

and their identification can personalize care, yet genetic testing is not part of standard clinical care in nephrology. This K01 proposes to identify the barriers to genetic testing in nephrology at the patient, clinician, and healthcare system levels, and to develop and test possible facilitators. I will use a mixed methods design to collect nuanced,

currently unavailable, data on these issues with the goal of informing future implementation guidelines. Aim 1 will assess the rate of adoption of genetic testing in nephrology, and the barriers, facilitators, and acceptability of potential implementation strategies to accelerate the adoption of genetic testing in nephrology. To address

the low confidence of nephrologists in genetics—a key barrier in effort to translate knowledge from labs to the clinics—in Aim 2, I will use participatory design to develop a toolbox with the input of both patients and nephrologists. The toolbox will include (i) a self-paced course in clinical renal genetics and external resources, (ii)

patient-facing materials with infographics, and (iii) a genetic literacy screen for patients. In Aim 3, I will assess the toolbox’s potential by pilot testing it with nephrologists. This K01 will inform future efficacy trials and lay the foundations for future research on interventions to ensure equitable access to genetic testing. Candidate: I hold

a Master in Genetic Counseling, a PhD in genetics and genomics and have a post-doctoral training in renal genomics. To advance the implementation of genomic medicine in nephrology, there is a need for researchers with combined expertise in genetics, nephrology, implementation science, health communication, health equity

research, and ethical, legal, and social Implications (ELSI) of genomics. My goal is to develop an independent research program focusing on the novel field of “equitable implementation of genomic medicine in nephrology”. During the K01’s training period, I will: (1) Develop expertise in the theoretical frameworks in

implementation science, (2) Become proficient in ELSI and health equity research, (3) Develop expertise in qualitative research methods, (4) Refine my expertise in survey design, (5) Learn health communication research tools and (6) Transition to independence. Environment: To guide and support my research and training goals,

I have assembled a strong mentorship team of experts in nephrology and renal genetics (Dr Gharavi, primary mentor), translation of genomics research into clinical practice (Dr Rahm, co-mentor), implementation science (Dr Moise, co-mentor), Equity and ELSI research (Dr Sabatello, co-mentor), health communication and

infographics (Dr Bakken, Advisor), and statistics (Dr Ionita-Laza, Advisor). The research will be conducted at Columbia University, which will give me access to extensive research resources and training to help me successfully transition to independence.