This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (NBS) from the perspectives of State program officials. This project aims to help programs develop policies that will aid in the integration of genomic technology. Discussion groups were conducted with the NBS Program and Laboratory Directors in the seven HRSA Regional Genomics Collaboratives (August 2014–March 2016). The discussion groups addressed expected uses of genomics, potential benefits, and challenges of integrating genomic technology, and educational needs for parents and other NBS stakeholders: Twelve focus groups were conducted, which included participants from over 40 state programs. Benefits of incorporating genomics included improving screening modalities, supporting diagnostic procedures, and screening for a wider spectrum of disorders. Challenges included the costs of genomics, the ability to educate parents and health care providers about results, and the potential negative psychosocial impact of genomic information. Attempts to address the challenges of integrating genomics must focus on preserving the child welfare goals of NBS programs. Health departments will need to explore how genomics could be used to enhance programs while maintaining universal access to screening.

Research suggests that multidisciplinary genomic tumor boards (MGTB) can inform cancer patient care, though little is known about factors influencing how MGTBs interpret genomic test results, make recommendations, and perceive the utility of this approach. This study’s objective was to observe, describe, and assess the establishment of the Breast Multidisciplinary Genomic Tumor Board, the first MGTB focused on interpreting genomic test results for breast cancer patients with advanced disease. We conducted a qualitative case study involving participant observation at monthly MGTB meetings from October 2013 through November 2014 and interviews with 12 MGTB members. We analyzed social dynamics and interactions within the MGTB regarding interpretation of genomic findings and participants’ views on effectiveness of the MGTB in using genomics to inform patient care. Twenty-two physicians, physician-scientists, basic scientists, bioethicists, and allied care professionals comprised the MGTB. The MGTB reviewed FoundationOne™ results for 40 metastatic breast cancer patients. Based on findings, the board mostly recommended referring patients to clinical trials (34) and medical genetics (15), and Food and Drug Administration-approved (FDA) breast cancer therapies (13). Though multidisciplinary, recommendations were driven by medical oncologists. Interviewees described providing more precise care recommendations and professional development as advantages and the limited actionability of genomic test results as a challenge for the MGTB. Findings suggest both feasibility and desirability of pooling professional expertise in genomically-guided breast cancer care and challenges to institutionalizing a Breast MGTB, specifically in promoting interdisciplinary contributions and managing limited actionability of genomic test results for patients with advanced disease.

Research on genomic testing outcomes for children with neurodevelopmental conditions often emphasizes clinical and personal utility, but rarely considers how a genomic diagnosis impacts care from non-physician community-based professionals such as those in private practice, early intervention, or school settings. Therefore, this study explored how caregivers and community care professionals use a genomic diagnosis to inform care. Semi-structured interviews were conducted with 23 caregivers of children with a genomic diagnosis and 30 community care professionals providing care to the child. Directed and summative content analysis was performed. Reported impacts included (1) improved care provision, (2) informed future planning, (3) enhanced social and community support, (4) enhanced understanding, (5) increased access to therapy-related services and equipment, (6) improved service quality and 5) elevated patient advocacy and engagement. Potential disutility arose from limited diagnostic information, provider knowledge gaps, insurance denials, and provider fear of treating rare conditions. A key neutral/mixed finding was that the diagnosis did not always impact care. Barriers to potential utility included financial burden, confusion about next steps, provider knowledge gaps, and lack of evidence-based guidance for rare diagnoses. Findings highlight that caregivers and community professionals may experience impacts from a genomic diagnosis (positive, negative, or neutral) that are understudied in empirical research, potentially because traditional concepts of utility fail to incorporate these domains. Broadening this conceptual framing could inform empirical research focused on identifying these effects and informing potential interventions. Further work is needed to characterize and quantify genomic test utility and disutility across diverse contexts.