Purpose: To recognize how nursing professionals participate in the care and management of families with rare genetic diseases.
Methods: Systematic scoping review of literature on genomic literacy in nursing remains low with notable heterogeneity across countries. Personal experience with the Undiagnosed Disease Program is notable with nursing professionals in management, clinical, research, and educational roles which lead to the assumption that the same can be done on a larger scale.
Key Findings: There is a workforce shortage in medical geneticists that increases the caseload and wait times for patients and their families to be evaluated. Most medical geneticists are white males over age 50 years old practicing in academic medical centers. This lack of diversity among clinical geneticists, and the associated challenges of cultural competence, introduces potential barriers to care that exacerbate existing racial and ethnic health-care disparities. Nurses make up a large percentage of the healthcare team. They need to be ready to assist their patients with finding the appropriate care to manage their conditions. Nurses can become experts for the routine collection of family history risk assessments that is the most accessible and cost-effective way to guide precision health. Nurses are well positioned to lead the implementation of precision health through interprofessional collaboration, community outreach efforts, and coordination of care.
Conclusions: There are roles for nursing in genomic research, clinical care, and education that can serve their communities.
Keywords: nurse, interprofessional collaboration, genomics nurse practitioner