title: Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families.
abstract: OBJECTIVE
  The broad use of single-nucleotide polymorphism microarrays has increased identification of unexpected consanguinity. Therefore, guidelines to address reporting of consanguinity have been published for clinical laboratories. Because no such guidelines for clinicians exist, we describe a case and present recommendations for clinicians to disclose unexpected consanguinity to families.
  
  
  METHODS
  In a boy with multiple endocrine abnormalities and structural birth defects, single-nucleotide polymorphism array analysis revealed ~23% autosomal homozygosity suggestive of a first-degree parental relationship. We assembled an interdisciplinary health-care team, planned the most appropriate way to discuss results of the single-nucleotide polymorphism array with the adult mother, including the possibility of multiple autosomal recessive disorders in her child, and finally met with her as a team.
  
  
  RESULTS
  From these discussions, we developed four major considerations for clinicians returning results of unexpected consanguinity, all guided by the child's best interests: (i) ethical and legal obligations for reporting possible abuse, (ii) preservation of the clinical relationship, (iii) attention to justice and psychosocial challenges, and (iv) utilization of the single-nucleotide polymorphism array results to guide further testing.
  
  
  CONCLUSIONS
  As single-nucleotide polymorphism arrays become a common clinical diagnostic tool, clinicians can use this framework to return results of unexpected consanguinity to families in a supportive and productive manner.
authors.affiliation: 1] University of Washington School of Medicine, Seattle, Washington, USA [2] Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Delgado
authors.affiliation: 1] Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA [2] Seattle Children's Hospital, Seattle, Washington, USA [3] Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington, USA.
authors.forename: Holly K
authors.initials: HK
authors.lastname: Tabor
authors.affiliation: Seattle Children's Hospital, Seattle, Washington, USA.
authors.forename: Penny M
authors.initials: PM
authors.lastname: Chow
authors.affiliation: Seattle Children's Hospital, Seattle, Washington, USA.
authors.forename: Jessie H
authors.initials: JH
authors.lastname: Conta
authors.affiliation: Seattle Children's Hospital, Seattle, Washington, USA.
authors.forename: Kenneth W
authors.initials: KW
authors.lastname: Feldman
authors.affiliation: Seattle Children's Hospital, Seattle, Washington, USA.
authors.forename: Karen D
authors.initials: KD
authors.lastname: Tsuchiya
authors.affiliation: 1] University of Washington School of Medicine, Seattle, Washington, USA [2] Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA [3] Seattle Children's Hospital, Seattle, Washington, USA.
authors.forename: Anita E
authors.initials: AE
authors.lastname: Beck
mesh_terms: D002874:Chromosome Mapping; D003241:Consanguinity; D005190:Family; D006720:Homozygote; D006801:Humans; D033162:Incidental Findings; D007223:Infant; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010820:Physicians; D020641:Polymorphism, Single Nucleotide; D014342:Truth Disclosure