The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

Abstract

Background Increasingly, genomics is informing clinical practice, but challenges remain for medical professionals lacking genetics expertise, and in access to and clinical utility of genomic testing for minority and underrepresented populations. The latter is a particularly pernicious problem due to the historical lack of inclusion of racially and ethnically diverse populations in genomic research and genomic medicine. A further challenge is the rapidly changing landscape of genetic tests and considerations of cost, interpretation, and diagnostic yield for emerging modalities like whole-genome sequencing. Methods The NYCKidSeq project is a randomized controlled trial recruiting 1130 children and young adults predominantly from Harlem and the Bronx with suspected genetic disorders in three disease categories: neurologic, cardiovascular, and immunologic. Two clinical genetic tests will be performed for each participant, either proband, duo, or trio whole-genome sequencing (depending on sample availability) and proband targeted gene panels. Clinical utility, cost, and diagnostic yield of both testing modalities will be assessed. This study will evaluate the use of a novel, digital platform (GUÍA) to digitize the return of genomic results experience and improve participant understanding for English- and Spanish-speaking families. Surveys will collect data at three study visits: baseline (0 months), result disclosure visit (ROR1, + 3 months), and follow-up visit (ROR2, + 9 months). Outcomes will assess parental understanding of and attitudes toward receiving genomic results for their child and behavioral, psychological, and social impact of results. We will also conduct a pilot study to assess a digital tool called GenomeDiver designed to enhance communication between clinicians and genetic testing labs. We will evaluate GenomeDiver’s ability to increase the diagnostic yield compared to standard practices, improve clinician’s ability to perform targeted reverse phenotyping, and increase the efficiency of genetic testing lab personnel. Discussion The NYCKidSeq project will contribute to the innovations and best practices in communicating genomic test results to diverse populations. This work will inform strategies for implementing genomic medicine in health systems serving diverse populations using methods that are clinically useful, technologically savvy, culturally sensitive, and ethically sound. Trial registration ClinicalTrials.govNCT03738098. Registered on November 13, 2018 Trial Sponsor: Icahn School of Medicine at Mount Sinai Contact Name: Eimear Kenny, PhD (Principal Investigator) Address: Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Pl., Box 1003, New York, NY 10029 Email: eimear.kenny@mssm.edu

Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium

“…The study included testing a novel communication tool, Genomic Understanding, Information and Awareness (GUÍA), to facilitate the return of GS results. 59,60 GUÍA allows providers to create a visual and narrative guide for personalized return of results and relevant clinical information, in English or Spanish, via a web-based platform. Second, many families enrolled in P3EGS to obtain a test that would otherwise be unavailable to them without paying out of pocket.…”

“…CSER has begun to fill these gaps through multiple avenues, 27,85,86 including evaluating novel language-tailored genomics content and communication strategies like NYCKidSeq's GUÍA tool. 59 Continued research utilizing stakeholder engagement and community-based participatory approaches 46,62,87,88 is needed to provide further insight into the experience of LEP populations, impact of language barriers on quality of care, and the relationship between language and literacy barriers.…”

“…Anecdotally, the study team noted that many participants were referred to NYCKidSeq due to insurance denials of genetic panel testing ordered by specialists, indicating that genomics research is being used as a means of accessing needed clinical care. The study included testing a novel communication tool, Genomic Understanding, Information and Awareness (GUÍA), to facilitate the return of GS results [61,62]. GUÍA allows providers to create a visual and narrative guide for personalized return of results and relevant clinical information, in English or Spanish, via a webbased platform.…”

“…Our findings underscore how differences in payer policies and clinical contexts prevent a straightforward understanding of the impact of insurance on access to cutting-edge technologies, and that changes to these policies are necessary for minimizing disparities. Further, equitable access entails not only engaging underserved communities and setting diversity targets for research enrollment (in the case of CSER projects, at least 60% of the study population) and delivery of genomic medicine, but also developing and testing interventions like the ARIA Model [47] and GUÍA tool [61] to address literacy, language, and other barriers that disproportionately impact underserved populations. Future studies should continue this work and build upon these strategies developed in CSER.…”

“…Effective access also includes elements of patient satisfaction and health outcomes, which encompass the understudied topic of culturally competent and language concordant genomic communication. CSER has begun to fill these gaps through multiple avenues [27,87,88], including evaluating novel language-tailored genomics content and communication strategies like NYCKidSeq's GUÍA tool [61]. Continued research utilizing stakeholder engagement and community-based participatory approaches [48,64,89,90] is needed to provide further insight into the experience of LEP populations, the impact of language barriers on quality of care, and the relationship between language and literacy barriers in genomics.…”