title: A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
abstract: BACKGROUND
  The MedSeq Project is a randomized clinical trial developing approaches to assess the impact of integrating genome sequencing into clinical medicine. To facilitate the return of results of potential medical relevance to physicians and patients participating in the MedSeq Project, we sought to develop a reporting approach for the effective communication of such findings.
  
  
  METHODS
  Genome sequencing was performed on the Illumina HiSeq platform. Variants were filtered, interpreted, and validated according to methods developed by the Laboratory for Molecular Medicine and consistent with current professional guidelines. The GeneInsight software suite, which is integrated with the Partners HealthCare electronic health record, was used for variant curation, report drafting, and delivery.
  
  
  RESULTS
  We developed a concise 5-6 page Genome Report (GR) featuring a single-page summary of results of potential medical relevance with additional pages containing structured variant, gene, and disease information along with supporting evidence for reported variants and brief descriptions of associated diseases and clinical implications. The GR is formatted to provide a succinct summary of genomic findings, enabling physicians to take appropriate steps for disease diagnosis, prevention, and management in their patients.
  
  
  CONCLUSIONS
  Our experience highlights important considerations for the reporting of results of potential medical relevance and provides a framework for interpretation and reporting practices in clinical genome sequencing.
authors.forename: Heather M
authors.initials: HM
authors.lastname: McLaughlin
authors.forename: Ozge
authors.initials: O
authors.lastname: Ceyhan-Birsoy
authors.forename: Kurt D
authors.initials: KD
authors.lastname: Christensen
authors.forename: Isaac S
authors.initials: IS
authors.lastname: Kohane
authors.forename: Joel
authors.initials: J
authors.lastname: Krier
authors.forename: William J
authors.initials: WJ
authors.lastname: Lane
authors.forename: Denise
authors.initials: D
authors.lastname: Lautenbach
authors.forename: Matthew S
authors.initials: MS
authors.lastname: Lebo
authors.forename: Kalotina
authors.initials: K
authors.lastname: Machini
authors.forename: Calum A
authors.initials: CA
authors.lastname: MacRae
authors.forename: Danielle R
authors.initials: DR
authors.lastname: Azzariti
authors.forename: Michael F
authors.initials: MF
authors.lastname: Murray
authors.forename: Christine E
authors.initials: CE
authors.lastname: Seidman
authors.forename: Jason L
authors.initials: JL
authors.lastname: Vassy
authors.forename: Robert C
authors.initials: RC
authors.lastname: Green
authors.forename: Heidi L
authors.initials: HL
authors.lastname: Rehm
mesh_terms: D019295:Computational Biology; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D033181:Information Dissemination / Q000379:methods*; D010597:Pharmacogenetics; D016032:Randomized Controlled Trials as Topic; D012107:Research Design; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software