The majority of patients undergoing exome or genome sequencing receive a nondiagnostic result. Periodic reanalysis is known to increase diagnostic yield from exome sequencing, yet laboratory reanalysis practices are obscure. We sought to define the landscape of exome and genome reanalysis across clinical laboratories. Genetic testing registries were queried to identify eligible clinical genetic laboratories offering exome and/or genome sequencing in the United States. A survey administered to lab representatives investigated reanalysis offerings, policies, perceived uptake, bioinformatic steps, and billing options. The analysis consisted of descriptive statistics. Survey data were collected from 30 of 32 eligible laboratories (93%), comprising 28 exome products and 13 genome products. Reanalysis was widely available for both exomes (n = 27/28, 96%) and genomes (n = 12/13, 92%). Most participating laboratories required ordering providers to initiate reanalysis (n = 24/28, 86%). Most respondents estimated providers initiated reanalysis in less than 10% of all exomes (n = 12/22) or genomes (n = 6/9) sequenced. The approach to reanalysis varied greatly by laboratory. Laboratory approaches to exome and genome reanalysis are highly variable and typically require provider initiation. This could contribute to low reanalysis uptake and increased administrative burden on providers. Further work should emphasize development of clinical exome and genome reanalysis standards.
Keywords: exome reanalysis; exome sequencing; genetic testing; genome reanalysis; genome sequencing.
© 2024 National Society of Genetic Counselors.