Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

Overview

Journal J Genet Couns

Publisher Wiley

Specialty Genetics

Date 2016 Apr 22

PMID 27098417

Citations 41

Authors

Lotte Krabbenborg

L E L M Vissers

J Schieving

T Kleefstra

E J Kamsteeg

J A Veltman

M A Willemsen

S van der Burg

Affiliations

Soon will be listed here.

Abstract

The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now given to pre-test counselling procedures for WES, little is known about how parents experience the (positive, negative, or inconclusive) WES results in daily life. To fill this knowledge gap, data were gathered through in-depth interviews with parents of 15 children who underwent WES analysis. WES test results, like results from other genetic tests, evoked relief as well as worries, irrespective of the type of result. Advantages of obtaining a conclusive diagnosis included becoming more accepting towards the situation, being enabled to attune care to the needs of the child, and better coping with feelings of guilt. Disadvantages experienced included a loss of hope for recovery, and a loss by parents of their social network of peers and the effort necessary to re-establish that social network. While parents with conclusive diagnoses were able to re-establish a peer community with the help of social media, parents receiving a possible diagnosis experienced hurdles in seeking peer support, as peers still needed to be identified. These types of psychosocial effects of WES test results for parents are important to take into account for the development of successful genetic counselling strategies.

Citing Articles

'You constantly have to be switched on': A qualitative interview study of parents of children with STXBP1-related disorders in the Netherlands.

van Till S, Sybesma S, Bruining H, Verhage M, Bunnik E Orphanet J Rare Dis. 2025; 20(1):89.

PMID: 40016782 PMC: 11869610. DOI: 10.1186/s13023-024-03314-7.

Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.

Tan J, Awuah W, Ahluwalia A, Sanker V, Ben-Jaafar A, Tenkorang P Eur J Med Res. 2024; 29(1):538.

PMID: 39523358 PMC: 11552425. DOI: 10.1186/s40001-024-02063-4.

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.

Wojcik M, Del Rosario M, Feldman H, Smith H, Holm I Pediatrics. 2024; 154(6).

PMID: 39512073 PMC: 11614160. DOI: 10.1542/peds.2024-068197.

Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.

Wojcik M, Del Rosario M, Feldman H, Smith H, Holm I medRxiv. 2024; .

PMID: 39006444 PMC: 11245053. DOI: 10.1101/2024.06.29.24309646.

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.

Heath O, Hammerl E, Spitzinger A, Wortmann S J Pers Med. 2024; 14(5).

PMID: 38793105 PMC: 11122152. DOI: 10.3390/jpm14050523.

References

Bosma A, Rigter T, Weinreich S, Cornel M, Henneman L . A genetic diagnosis of maturity-onset diabetes of the young (MODY): experiences of patients and family members. Diabet Med. 2015; 32(10):1385-92. DOI: 10.1111/dme.12742. View

Krabbenborg L, Schieving J, Kleefstra T, Vissers L, Willemsen M, Veltman J . Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs. Clin Genet. 2015; 89(2):244-50. DOI: 10.1111/cge.12601. View

Iglesias A, Anyane-Yeboa K, Wynn J, Wilson A, Truitt Cho M, Guzman E . The usefulness of whole-exome sequencing in routine clinical practice. Genet Med. 2014; 16(12):922-31. DOI: 10.1038/gim.2014.58. View

Graungaard A, Skov L . Why do we need a diagnosis? A qualitative study of parents' experiences, coping and needs, when the newborn child is severely disabled. Child Care Health Dev. 2007; 33(3):296-307. DOI: 10.1111/j.1365-2214.2006.00666.x. View

Reiff M, Bernhardt B, Mulchandani S, Soucier D, Cornell D, Pyeritz R . "What does it mean?": uncertainties in understanding results of chromosomal microarray testing. Genet Med. 2012; 14(2):250-8. PMC: 3445036. DOI: 10.1038/gim.2011.52. View

Whitmarsh I, Davis A, Skinner D, Bailey Jr D . A place for genetic uncertainty: parents valuing an unknown in the meaning of disease. Soc Sci Med. 2007; 65(6):1082-93. PMC: 2267724. DOI: 10.1016/j.socscimed.2007.04.034. View

Levenseller B, Soucier D, Miller V, Harris D, Conway L, Bernhardt B . Stakeholders' opinions on the implementation of pediatric whole exome sequencing: implications for informed consent. J Genet Couns. 2013; 23(4):552-65. PMC: 3849137. DOI: 10.1007/s10897-013-9626-y. View

Appelbaum P, Waldman C, Fyer A, Klitzman R, Parens E, Martinez J . Informed consent for return of incidental findings in genomic research. Genet Med. 2013; 16(5):367-73. PMC: 3999314. DOI: 10.1038/gim.2013.145. View

Fanos J . New "first families": the psychosocial impact of new genetic technologies. Genet Med. 2012; 14(2):189-90. DOI: 10.1038/gim.2011.17. View

10.

Hitch K, Joseph G, Guiltinan J, Kianmahd J, Youngblom J, Blanco A . Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing. J Genet Couns. 2014; 23(4):539-51. PMC: 4451087. DOI: 10.1007/s10897-014-9687-6. View

11.

Hallberg U, Oskarsdottir S, Klingberg G . 22q11 deletion syndrome - the meaning of a diagnosis. A qualitative study on parental perspectives. Child Care Health Dev. 2010; 36(5):719-25. DOI: 10.1111/j.1365-2214.2010.01108.x. View

12.

Carmichael N, Tsipis J, Windmueller G, Mandel L, Estrella E . "Is it going to hurt?": the impact of the diagnostic odyssey on children and their families. J Genet Couns. 2014; 24(2):325-35. DOI: 10.1007/s10897-014-9773-9. View

13.

Vaismoradi M, Turunen H, Bondas T . Content analysis and thematic analysis: Implications for conducting a qualitative descriptive study. Nurs Health Sci. 2013; 15(3):398-405. DOI: 10.1111/nhs.12048. View

14.

Vissers L, de Ligt J, Gilissen C, Janssen I, Steehouwer M, De Vries P . A de novo paradigm for mental retardation. Nat Genet. 2010; 42(12):1109-12. DOI: 10.1038/ng.712. View

15.

Webb C . Parents' perspectives on coping with Duchenne muscular dystrophy. Child Care Health Dev. 2005; 31(4):385-96. DOI: 10.1111/j.1365-2214.2005.00518.x. View

16.

Skirton H . The Client's Perspective of Genetic Counseling-A Grounded Theory Study. J Genet Couns. 2015; 10(4):311-29. DOI: 10.1023/A:1016677110500. View

17.

de Ligt J, Willemsen M, van Bon B, Kleefstra T, Yntema H, Kroes T . Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012; 367(20):1921-9. DOI: 10.1056/NEJMoa1206524. View

18.

Brookes-Howell L . Living without labels: the interactional management of diagnostic uncertainty in the genetic counselling clinic. Soc Sci Med. 2006; 63(12):3080-91. DOI: 10.1016/j.socscimed.2006.08.008. View

19.

Tabor H, Stock J, Brazg T, McMillin M, Dent K, Yu J . Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. Am J Med Genet A. 2012; 158A(6):1310-9. PMC: 3426313. DOI: 10.1002/ajmg.a.35328. View

20.

Hofmann B . On the triad disease, illness and sickness. J Med Philos. 2003; 27(6):651-73. DOI: 10.1076/jmep.27.6.651.13793. View