Evaluating a counselling strategy for diagnostic WES in paediatric neurology: An exploration of parents' information and communication needs

Clinical Genetics

Volumn 89, Issue 2, 2016, Pages 244-250

  Krabbenborg, L ^a   Schieving, J ^a   Kleefstra, T ^a   Vissers, L E L M ^a   Willemsen, M A ^a   Veltman, J A ^a   van der Burg, S ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Clinical care; Genetic counselling; Next generation sequencing; Paediatric neurology; Parents' experiences; Whole exome sequencing

Indexed keywords

ARTICLE; CHILDHOOD DISEASE; CLINICAL ARTICLE; FOLLOW UP; GENE SEQUENCE; GENETIC COUNSELING; HUMAN; INTERPERSONAL COMMUNICATION; MEDICAL INFORMATION; NEUROLOGIC DISEASE; NEUROLOGIST; PRIORITY JOURNAL; TELECONSULTATION; WHOLE EXOME SEQUENCING; CHILD; COUNSELING; DNA SEQUENCE; EXOME; GENETICS; INCIDENTAL FINDING; INFORMED CONSENT; NEUROLOGY; PARENT; PATIENT REFERRAL; PEDIATRICS; PROCEDURES;

CHILD; COMMUNICATION; COUNSELING; EXOME; HUMANS; INCIDENTAL FINDINGS; INFORMED CONSENT; NEUROLOGY; PARENTS; PEDIATRICS; REFERRAL AND CONSULTATION; SEQUENCE ANALYSIS, DNA;

EID: 84929905345     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12601     Document Type: Article

References (17)

1. Vissers LE, de Ligt J, Gillissen C et al. A de novo paradigm for mental retardation. Nat Genet 2010: 42 (12): 1109-1112.
2. de Ligt J, Willemsen MH, van Bon BW et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012: 367: 1921-1929.
3. Iglesias AJ, Anyane-Yeboa K, Wynn J et al. The usefulness of whole-exome sequencing in routine clinical practice. Genet Med 2014: 16: 922-933.
4. Roche MI, Palmer CGS. Next generation genetic counseling: introduction to the special issue. J Genet Counsel 2014: 23 (4): 439-444.
5. Hitch K, Galen J, Guiltinan J, Kianmahd J, Youngblom J, Blanco AM. Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing. J Genet Counsel 2014: 23 (4): 539-551.
6. Sapp JC, Dong D, Stark C et al. Parental attitudes, values and beliefs toward the return of results from exome sequencing in children. Clin Genet 2013: 85: 120-126.
7. Rigter T, Van Aart CJA, Elting MW, Waisfisz Q, Cornel MC, Henneman L. Informed consent for exome sequencing in diagnostics. Clin Genet 2013: 85: 417-422.
8. Tabor HK, Stock J, Brazg T et al. Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. Am J Med Genet Part A 2012: 158A: 1310-1319.
9. Appelbaum PS, Waldman CR, Fyer A et al. Informed consent for return of incidental findings in genomic research. Genet Med 2014: 16 (5): 367-373.
10. Levenseller BL, Soucier DJ, Miller VA, Harris D, Conway L, Bernhardt BA. Stakeholders' opinions on the implementation of pediatric whole exome sequencing: implications for informed consent. J Genet Counsel 2013: 23 (4): 552-565.
11. Evers J(red). Qualitative interviewing: art ánd skill (in Dutch). The Hague: Lemma, 2007.
12. Mason M. Sample size and saturation in PhD studies using qualitative interviews. FQS 2010: 11 (3): Art. 8.
13. Bredenoord AL, Onland-Moret NC, Van Delden JJ. Feedback of individual genetic results to research participants: in favor of a qualified disclosure policy. Hum Mutat 2011: 32 (8): 861-867.
14. Ashtiani S, Makela N, Carrion P, Austin J. Parents' experiences of receiving their child's genetic diagnosis: a qualitative study to inform clinical genetics in practice. Am J Med Genet Part A 2014: 164A: 1496-1502.
15. Ramachandrannair R, Jack SM, Meaney BF, Ronen GM. SUDEP: what do parents want to know? Epilepsy Behav 2013: 29 (3): 560-564.
16. Coulter A, Collins A. Making shared decision-making a reality: no decisions about me, without me. The King's Fund, 2011.
17. Rantanen E, Hietala M, Kristoffersson U et al. What is ideal genetic counselling? A survey of current international guidelines. Eur J Hum Genet 2008: 16: 445-452.