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Research Article

How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

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Pages 409-422 | Received 24 Feb 2017, Accepted 21 Jun 2017, Published online: 04 Sep 2017

References

  • Biesecker LG , GreenRC . Diagnostic clinical genome and exome sequencing . N. Engl. J. Med.370 ( 25 ), 2418 – 2425 ( 2014 ).
  • Green RC , GoddardKB , JarvikGPet al. Clinical Sequencing Exploratory Research Consortium: accelerating evidence-based practice of genomic medicine . Am. J. Hum. Genet.98 ( 6 ), 1051 – 1066 ( 2016 ).
  • Willig LK , PetrikinJE , SmithLDet al. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings . Lancet Respir. Med.3 ( 5 ), 377 – 387 ( 2015 ).
  • Yang Y , MuznyDM , XiaFet al. Molecular findings among patients referred for clinical whole-exome sequencing . JAMA312 ( 18 ), 1870 – 1879 ( 2014 ).
  • Stark Z , TanTY , ChongBet al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders . Genet. Med.18 ( 11 ), 1090 – 1096 ( 2016 ).
  • Sawyer SL , HartleyT , DymentDAet al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care . Clin. Genet.89 ( 3 ), 275 – 284 ( 2016 ).
  • Parsons DW , RoyA , YangYet al. Diagnostic yield of clinical tumor and germline whole-exome sequencing for children with solid tumors . JAMA Oncol.2 ( 5 ), 616 ( 2016 ).
  • Ayuso C , MillánJM , MancheñoM , Dal-RéR . Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process . Eur. J. Hum. Genet.21 ( 10 ), 1054 – 1059 ( 2013 ).
  • Bernhardt BA , RocheMI , PerryDL , ScollonSR , TomlinsonAN , SkinnerD . Experiences with obtaining informed consent for genomic sequencing . Am. J. Med. Genet. A167A ( 11 ), 2635 – 2646 ( 2015 ).
  • Bertier G , HétuM , JolyY . Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views . BMC Med. Genomics9 ( 1 ), 52 ( 2016 ).
  • Gollust SE , GordonES , ZayacCet al. Motivations and perceptions of early adopters of personalized genomics: perspectives from research participants . Public Health Genom.15 ( 1 ), 22 – 30 ( 2012 ).
  • Anderson JA , MeynMS , ShumanCet al. Parents perspectives on whole genome sequencing for their children: qualified enthusiasm? J. Med. Ethics 18 ( 3 ), 151 – 159 ( 2016 ).
  • Biesecker BB , KleinW , LewisKLet al. How do research participants perceive ‘uncertainty’ in genome sequencing? Genet. Med. 16 ( 12 ), 977 – 980 ( 2014 ).
  • Paul J , MetcalfeS , StirlingL , WilsonB , HodgsonJ . Analyzing communication in genetic consultations – a systematic review . Patient Educ. Couns.98 ( 1 ), 15 – 33 ( 2015 ).
  • Blazer KR , NehorayB , SolomonIet al. Next-generation testing for cancer risk: perceptions, experiences, and needs among early adopters in community healthcare settings . Genet. Test Mol. Biomarkers19 ( 12 ), 657 – 665 ( 2015 ).
  • Houwink EJ , van LuijkSJ , HennemanL , van der VleutenC , Jan DinantG , CornelMC . Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives . BMC Fam. Pract.12 ( 1 ), 5 ( 2011 ).
  • Babul-Hirji R , HewsonS , FrescuraM . A sociolinguistic exploration of genetic counseling discourse involving a child with a new genetic diagnosis . Patient Educ. Couns.78 ( 1 ), 40 – 45 ( 2010 ).
  • Lerner B , RobertsJS , ShwartzM , RoterDL , GreenRC , ClarkJA . Distinct communication patterns during genetic counseling for late-onset Alzheimer’s risk assessment . Patient Educ. Couns.94 ( 2 ), 170 – 179 ( 2014 ).
  • Ashtiani S , MakelaN , CarrionP , AustinJ . Parents’ experiences of receiving their child’s genetic diagnosis: a qualitative study to inform clinical genetics practice . Am. J. Med. Genet. A164A ( 6 ), 1496 – 1502 ( 2014 ).
  • Krabbenborg L , SchievingJ , KleefstraTet al. Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents’ information and communication needs . Clin. Genet.89 ( 2 ), 244 – 250 ( 2016 ).
  • Seo J , IvanovichJ , GoodmanMS , BieseckerBB , KaphingstKA . Information topics of greatest interest for return of genome sequencing results among women diagnosed with breast cancer at a young age . J. Genet. Couns.26 ( 3 ), 511 – 521 ( 2016 ).
  • Werner-Lin A , TomlinsonA , MillerV , BernhardtBA . Adolescent engagement during assent for exome sequencing . AJOB Empir. Bioeth.7 ( 4 ), 275 – 284 ( 2016 ).
  • Miller VA , Werner-LinA , WalserSA , BiswasS , BernhardtBA . An observational study of childrens involvement in informed consent for exome sequencing research . J. Empir. Res. Hum. Res. Ethics12 ( 1 ), 1 – 11 ( 2016 ).
  • Braun V , ClarkV . Using thematic analysis in psychology . Qual. Res. Psychol.3 ( 2 ), 77 – 101 ( 2006 ).
  • Patton MQ , Patton QuinnM . Qualitative Research . John Wiley & Sons , Chichester, UK ( 2005 ).
  • Hill CE , KnoxS , ThompsonBJ , WilliamsEN , HessSA . Consensual qualitative research: an update . J. Couns. Psychol.52 , 196 – 205 ( 2005 ).
  • Lincoln YS , GubaEG . Naturalistic Inquiry . SAGE , Newbury Park, CA, USA ( 1985 ).
  • Sandelowski M . Sample size in qualitative research . Res. Nurs. Health.18 ( 2 ), 179 – 183 ( 1995 ).
  • Roter DL , ErbyLH , LarsonS , EllingtonL . Assessing oral literacy demand in genetic counseling dialogue: preliminary test of a conceptual framework . Soc. Sci. Med.65 ( 2 ), 1442 – 1457 ( 2007 ).
  • Schnitzler L , SmithSK , ShepherdHLet al. Communication during radiation therapy education sessions: the role of medical jargon and emotional support in clarifying patient confusion . Patient Educ. Couns.100 ( 1 ), 112 – 120 ( 2017 ).
  • Hurle B , CitrinT , JenkinsJFet al. What does it mean to be genomically literate?: National Human Genome Research Institute meeting report . Genet. Med.15 ( 8 ), 658 – 663 ( 2013 ).
  • Haga SB , MillsR , PollakKIet al. Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding . Genome Med.6 ( 7 ), 58 ( 2014 ).
  • Joseph G , PasickRJ , SchillingerD , LuceJ , GuerraC , ChengJKY . Information mismatch: cancer risk counseling with diverse underserved patients . J. Genet. Couns. doi:10.1007/s10897-017-0089-4 ( 2017 ) ( Epub ahead of print ).
  • Roter DL , EllingtonL , ErbyLH , LarsonS , DudleyW . The genetic counseling video project (GCVP): models of practice . Am. J. Med. Genet. C Semin. Med. Genet.142C ( 4 ), 209 – 220 ( 2006 ).
  • Doak CC , DoakLG , RootJH . Teaching patients with low literacy skills . Am. J. Nurs.96 , 16M ( 1996 ).
  • Roter DL . Oral literacy demand of health care communication: challenges and solutions . Nurs. Outlook59 ( 4 ), 79 – 84 ( 2011 ).
  • Stuckey AR , OnstadMA . Hereditary breast cancer: an update on risk assessment and genetic testing in 2015 . Am. J. Obstet. Gynecol.213 ( 2 ), 161 – 165 ( 2015 ).
  • Vassy JL , McLaughlinHM , MacRaeCAet al. A one-page summary report of genome sequencing for the healthy adult . Public Health Genom.18 ( 2 ), 123 – 129 ( 2015 ).
  • Appelbaum PS , WaldmanCR , FyerAet al. Informed consent for return of incidental findings in genomic research . Genet. Med.16 ( 5 ), 367 – 373 ( 2014 ).
  • Timmermans S , TietbohlC , SkaperdasE . Narrating uncertainty: variants of uncertain significance (VUS) in clinical exome sequencing . BioSocieties1 – 20 ( 2016 ). https://static1.squarespace.com/static/541762aae4b06a67e18e22d0/t/57dadb6a2e69cf3412490134/1473960810998/Timmermans-Biosocieties2016.pdf .
  • Skinner DL , RaspberryKA , KingM . The nuanced negative: meanings of a negative diagnostic result in clinical exome sequencing . Sociol. Health Illn.38 ( 8 ), 1303 – 1317 ( 2016 ).
  • Latimer J , FeatherstoneK , AtkinsonP , ClarkeA , PilzDT , ShawA . Rebirthing the clinic: the interaction of clinical judgment and genetic technology in the production of medical science . Sci. Technol. Hum. Values31 ( 5 ), 599 – 630 ( 2006 ).
  • Rosell AM , PenaLM , SchochKet al. Not the end of the odyssey: parental perceptions of whole exome sequencing (WES) in pediatric undiagnosed disorders . J. Genet. Couns.25 ( 5 ), 1019 – 1031 ( 2016 ).
  • Garg R , VogelgesangJ , KellyK . Impact of genetic counseling and testing on altruistic motivations to test for BRCA1/2: a longitudinal study . J. Genet. Couns.25 ( 3 ), 572 – 582 ( 2016 ).
  • Arora NK , HesseBW , ClauserSB . Walking in the shoes of patients, not just in their genes: a patient-centered approach to genomic medicine . Patient8 ( 3 ), 239 – 245 ( 2015 ).

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