title: Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research.
abstract: BACKGROUND
  Introducing whole genome sequencing (WGS) into pediatric cancer research at diagnosis poses unique challenges related to informed consent. WGS requires tissue obtained prior to initiating treatment, when families may be overwhelmed with uncertainty and fear. Motivation to participate may be high without fully understanding the range of possible results, including secondary findings. Little is known about parental knowledge, attitudes, and beliefs about this type of research.
  
  
  METHODS
  A qualitative study was conducted to investigate parental knowledge about genetic concepts and WGS, thoughts about the informed consent process, and preferences for secondary findings. Focus groups were conducted with parents/guardians of children with cancer and semi-structured interviews were conducted in a control group without cancer. All transcripts were analyzed using content analysis.
  
  
  RESULTS
  Four focus groups included 15 participants; eight semi-structured interviews included 10 participants. Basic knowledge about genetics was limited to heredity. Some knowledge of genomic analysis was present in 3/15 focus group participants. Major factors related to participation in WGS research were: (i) hope for their child and future children; (ii) no additional procedures; (iii) and protection of privacy. All favored a two-step consent process, first to store extra tissue from a diagnostic biopsy/resection, followed by consenting to WGS research, one-to-two months later. The desire to receive secondary findings was high among both groups, but there were individuals who did not want these results, fearing increased anxiety.
  
  
  CONCLUSIONS
  Parents/guardians of children with cancer have limited knowledge about WGS. A two-step consent process may improve their ability to provide meaningful informed consent.
authors.affiliation: Department of Pediatrics, Division of Hematology, Oncology, Stem Cell Transplantation, Columbia University Medical Center, 161 Fort Washington Avenue, IP7, New York, New York.
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Oberg
authors.affiliation: Department of Pediatrics, Division of Hematology, Oncology, Stem Cell Transplantation, Columbia University Medical Center, 161 Fort Washington Avenue, IP7, New York, New York.
authors.forename: Julia L
authors.initials: JL
authors.lastname: Glade Bender
authors.affiliation: School of Nursing, Division of Academics, Columbia University Medical Center, 161 Fort Washington Avenue, IP7, New York, New York.
authors.forename: Elizabeth G
authors.initials: EG
authors.lastname: Cohn
authors.affiliation: Department of Pediatrics, Division of Pediatric Critical Care, Columbia University Medical Center, 161 Fort Washington Avenue, IP7, New York, New York.
authors.forename: Marilyn
authors.initials: M
authors.lastname: Morris
authors.affiliation: College of Physicians and Surgeons, Columbia University Medical Center, 161 Fort Washington Avenue, IP7, New York, New York.
authors.forename: Jenny
authors.initials: J
authors.lastname: Ruiz
authors.affiliation: Department of Pediatrics and Medicine, Division of Pediatric Molecular Genetics, Columbia University Medical Center, 161 Fort Washington Avenue, IP7, New York, New York.
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
authors.affiliation: Department of Psychiatry, Division of Law, Ethics, and Psychiatry, Columbia University Medical Center, 161 Fort Washington Avenue, IP7, New York, New York.
authors.forename: Paul S
authors.initials: PS
authors.lastname: Appelbaum
authors.affiliation: Department of Pediatrics, Division of Hematology, Oncology, Stem Cell Transplantation, Columbia University Medical Center, 161 Fort Washington Avenue, IP7, New York, New York.
authors.forename: Andrew L
authors.initials: AL
authors.lastname: Kung
authors.affiliation: Department of Pediatrics, Division of Hematology, Oncology, Stem Cell Transplantation, Columbia University Medical Center, 161 Fort Washington Avenue, IP7, New York, New York.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Levine
mesh_terms: D035843:Biomedical Research; D002874:Chromosome Mapping; D003657:Decision Making; D005260:Female; D017144:Focus Groups; D015894:Genome, Human / Q000235:genetics; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D033162:Incidental Findings; D008297:Male; D033282:Parental Consent / Q000523:psychology*; D010290:Parents / Q000193:education / Q000523:psychology*; D018579:Patient Selection; D017422:Sequence Analysis, DNA
keywords: informed consent; pediatric oncology; whole genome sequencing