Inconclusive genetic test results for osteogenesis imperfecta in children with unexplained fractures - current practice and the provider perspective

Abstract

<bold>Background:</bold> In children with unexplained fractures, healthcare providers often must consider whether the etiology is non-accidental injury (NAI) or an underlying predisposition to bone fractures, such as osteogenesis imperfecta (OI). Genetic testing may be variably used to address this question and uncertainty can be introduced if the results are inconclusive. <bold>Methods:</bold> Physicians in the Collagen Diagnostic Laboratory database at the University of Washington were sent a 15 question survey to gather information regarding their utilization of genetic test results for OI when their patient was suspect of NAI. <bold>Results:</bold> Results from 89 participants indicate that there exists differential practices in regards to the following: when genetic testing should be ordered for OI vs. NAI cases, who should be consulted and which additional procedures are required for follow-up analysis of a variant of uncertain significance, and to whom the genetic results should be released. <bold>Conclusion:</bold> Differences in practice raise ethical concerns about whether these differences are justified, and how they can be addressed. Information from the study can inform changes in policy and education to eliminate some of the disparities and alleviate some ethical concerns.