title: Patient understanding of genetic information influences reproductive decision making in retinoblastoma.
abstract: BACKGROUND
  Retinoblastoma is the most common malignant tumour of the eye in childhood, with nearly all bilateral tumours and around 17% to 18% of unilateral tumours due to an oncogenic mutation in the RB1 gene in the germline. Genetic testing enables accurate risk assessment and optimal clinical management for the affected individual, siblings, and future offspring.
  
  
  METHODS
  We carried out the first UK-wide audit of understanding of genetic testing in individuals with retinoblastoma. A total of 292 individuals aged 16 to 45 years were included.
  
  
  RESULTS
  Patients with bilateral disease were significantly more likely to understand the implications of retinoblastoma for siblings and children. There was a significant association between not knowing the results of genetic testing or not understanding the implications and not having children, particularly in women. Surprisingly, this was also true for individuals treated for unilateral disease with a low risk of retinoblastoma for their offspring.
  
  
  CONCLUSIONS
  We are concerned that individuals may be making life choices based on insufficient information regarding risks of retinoblastoma and reproductive options. We suggest that improvement in transition care is needed to enable individuals to make informed reproductive decisions and to ensure optimal care for children born at risk of retinoblastoma.
authors.affiliation: Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
authors.forename: A
authors.identifier: http://orcid.org/0000-0002-0216-3909
authors.initials: A
authors.lastname: Foster
authors.affiliation: Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
authors.forename: L
authors.initials: L
authors.lastname: Boyes
authors.affiliation: Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
authors.forename: L
authors.initials: L
authors.lastname: Burgess
authors.affiliation: Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
authors.forename: S
authors.initials: S
authors.lastname: Carless
authors.affiliation: Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
authors.forename: V
authors.initials: V
authors.lastname: Bowyer
authors.affiliation: Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
authors.forename: H
authors.initials: H
authors.lastname: Jenkinson
authors.affiliation: Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
authors.forename: M
authors.initials: M
authors.lastname: Parulekar
authors.affiliation: Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
authors.forename: J
authors.initials: J
authors.lastname: Ainsworth
authors.affiliation: Retinoblastoma Service, Royal London Hospital, Barts Health NHS Trust, London, UK.|Moorfields Eye Hospital NHS Trust, London, UK.
authors.forename: J
authors.initials: J
authors.lastname: Hungerford
authors.affiliation: Retinoblastoma Genetic Screening Unit, Barts Health NHS Trust, London, UK.
authors.forename: Z
authors.initials: Z
authors.lastname: Onadim
authors.affiliation: Retinoblastoma Service, Royal London Hospital, Barts Health NHS Trust, London, UK.|Moorfields Eye Hospital NHS Trust, London, UK.|UCL Institute of Ophthalmology, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Sagoo
authors.affiliation: Retinoblastoma Service, Royal London Hospital, Barts Health NHS Trust, London, UK.
authors.forename: E
authors.initials: E
authors.lastname: Rosser
authors.affiliation: Retinoblastoma Service, Royal London Hospital, Barts Health NHS Trust, London, UK.|Moorfields Eye Hospital NHS Trust, London, UK.
authors.forename: M A
authors.initials: MA
authors.lastname: Reddy
authors.affiliation: Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
authors.forename: T
authors.initials: T
authors.lastname: Cole
mesh_terms: D000293:Adolescent; D000328:Adult; D003657:Decision Making / Q000941:ethics; D005193:Family Planning Services / Q000941:ethics*; D005260:Female; D015870:Gene Expression; D005817:Genetic Counseling; D005820:Genetic Testing; D018095:Germ-Line Mutation; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011379:Prognosis; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D012175:Retinoblastoma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D056286:Retinoblastoma Binding Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D006113:United Kingdom
chemical_list: C000606393:RB1 protein, human; D056286:Retinoblastoma Binding Proteins; D044767:Ubiquitin-Protein Ligases
keywords: 
  RB1; genetic screening/counselling; paediatric oncology; retinoblastoma; transition care