Understanding results of genomic testing in children: Needs, resources and policy implications for health providers and families

Chromosomal Micro-array (CMA) testing has improved the diagnostic rate of genomic disorders in pediatric populations, and is used for patients with clinical phenotypes including intellectual disability, developmental delay, congenital anomalies and autism. In addition to detecting known pathogenic mutations, CMA can also lead to uncertain findings, and can present challenges for families and providers. We examined parents' and clinicians' perspectives of CMA testing using mixed methods: semi-structured interviews with 31 parents and 15 health providers; observations of 22 clinical consultations; and an online survey of 40 physicians (11 pediatricians, 24 pediatric specialists, and 5 medical geneticists). Qualitative analyses suggested that parents' understanding of CMA results was impeded by uncertainties deriving from lack of provider knowledge, limitations in scientific knowledge, and personal meanings attributed to the results, including psychosocial implications for individuals tested and their families. Misunderstandings were exacerbated when test results were conveyed by professionals lacking genetics expertise. In the survey, non-geneticists reported a need for more education about interpreting and explaining CMA results. Non-geneticists' main source of information about CMA was informal discussion with colleagues, rather than formal education or professional journals and guidelines, suggesting a lack of systematic education in this area. Genomic tests are ordered increasingly by clinicians lacking adequate genetics training to understand and communicate the meaning and implications of some types of test results. We will examine current health care policies that give rise to this situation, and consider potential ways to alleviate provider burden, and improve patients' and non-genetics providers' understanding of genomic information.