Dissemination and Implementation Science (D&I)

1. R21HG012672 – Implementing and Evaluating Genetic Screening in Healthy Adults for Precision Public Health

   Roberts, MC (PI)
   7/1/2022 – 6/30/2024
   Total Award Amount (including Indirect Costs): $420,769 

   We will examine the implementation and impact of a Precision Health Genetic Screening Test on patient outcomes, as well as develop strategies to improve the implementation of Precision Health Genetic Screening programs in the future. To this end we propose to (1) examine implementation outcomes of the UNC Precision Health Genetic Screening Test; (2) identify and tailor strategies for the implementation of the Precision Health Genetic Screening Test; and (3) examine the impact of the Precision Health Genetic Screening Test on patient outcomes. The objective of this proposal is to better understand and learn from the implementation of the UNC Precision Health Genetic Screening Test to inform implementation of precision health genetic screening in diverse, real-world clinical settings. Further, these findings will directly inform the development of future hypotheses to test the effect of the UNC Precision Health Genetic Screening Test on patient health outcomes and key implementation outcomes through a future Type II Hybrid Effectiveness study. Through this line of research, we can better understand the implementation and effectiveness outcomes related to a genetics-based screening program. This foundational understanding will inform future work to achieve the promise of precision health for all.

2. North Carolina Translational and Clinical Science institute (NC TraCS) Project Number: SE2123 “Engaging parents as partners in community engagement about genomic screening research”

   Milko, LV (PI)
   6/21/2022-5/31/2023
   Total Award Amount: $2,000 

   The NC TraCS award voucher supported a community research partnership to enable communities to have a voice in the future direction of research to detect children with severe genetic conditions in time to prevent or ameliorate symptoms. This award supported the partnership between a Community Research Board (CRB) composed of parents with diverse backgrounds and perspectives and a multidisciplinary team of UNC researchers from the Age-Based Genomic Screening (ABGS) study to co-develop a series of six Genetics and Genomics Educational Modules for public engagement and education with diverse communities. These modules are intended to promote trust, communication, and genetic literacy, facilitate informed decision-making by families, and work toward equitable representation of minoritized and marginalized communities in genomic and precision medicine research on behalf of numerous research and clinical offerings at UNC and beyond. 

3. North Carolina Translational and Clinical Science institute (NC TraCS) Project Number: SE2123 ” Population genetic screening: Understanding strategies for equitable uptake of screening”
   Roberts, MC (PI)
   6/21/2022-5/31/2023
   Total Award Amount: $2,000

UNC and programs across the United States have begun piloting population screening programs. As these programs grow it will be critical to ensure that screening is available and accessible to all patients. Yet, it remains unknown how to best reach patients and to ensure equitable access to population genetic screening programs. Thus, we propose to conduct qualitative interviews with program coordinators at established population genetic screening programs across the US. Our objective is to better understand what strategies have/not been effective for other programs recruiting diverse patients to join their screening programs. These findings will directly inform the development of a proposal to select, refine and evaluate implementation strategies to increase UNC PHGS’s reach and representativeness. This foundational understanding will inform next steps towards achieving equity in population genetic screening.

Relevant publications:

• Foss K, Henderson GE, Kuczynski K, Roberts MC. A Paradigm of Investigator Duty to Multiple Stakeholder Participants. Am J Bioeth. 2023 Aug;23(8):58-60. doi: 10.1080/15265161.2023.2217115. PMID: 37450534. 
• Roberts MC, Foss KS, Henderson GE, Powell SN, Saylor KW, Weck KE, Milko LV. Public Interest in Population Genetic Screening for Cancer Risk. Front Genet. 2022 Jul 22;13:886640. doi: 10.3389/fgene.2022.886640. PMID: 35938028; PMCID: PMC9354961.
• Shen EC, Srinivasan S, Passero LE, Allen CG, Dixon M, Foss K, Halliburton B, Milko LV, Smit AK, Carlson R, Roberts MC. Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review. Front Genet. 2022 Jul 4;13:865384. doi: 10.3389/fgene.2022.865384. PMID: 35860476; PMCID: PMC9289280.
• Foss KS, O’Daniel JM, Berg JS, Powell SN, Cadigan RJ, Kuczynski KJ, Milko LV, Saylor KW, Roberts MC, Weck K, Henderson GE. The rise of population genomic screening: Characteristics of current programs and the need for evidence regarding optimal implementation. J Pers Med. 2022 May;12(5):692. doi: 10.3390/jpm12050692. PMID: 35629115; PMCID: PMC9145687.
• Powell SN, Byfield G, Bennetone A, Frantz AM, Harrison LK, James-Crook ER, Osborne H, Owens TH, Shaw JL, O’Daniel J, Milko LV. Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population. Front Genet. 2022 Mar 25;13:867030. doi: 10.3389/fgene.2022.867030. PMID: 35401676; PMCID: PMC8990237.