“It wasn't a disaster or anything”: Parents’ experiences of their child's uncertain chromosomal microarray result

Wilkins, Ella J; Archibald, Alison D; Sahhar, Margaret; White, Susan

doi:10.1002/ajmg.a.37838

Cited by 32 publications

(45 citation statements)

References 39 publications

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“…Doctors were hesitant to assign causality, with only 6% of those letters referring to the VUS as the main explanation for the patient's symptoms. Interestingly, previous studies have found that parents of children diagnosed with a VUS are likely to assign cause to the finding, 22 even following a consultation with a VCGS genetics specialist 23,24 where they would likely have received a summary letter. Studies have also found that many parents experience a sense of relief once they know 'the reason' for their child's problems, even when the result is a VUS, and that they felt it helped them to accept their child's symptoms.…”

Section: Discussion Of Causal Uncertaintymentioning

confidence: 99%

“…Studies have also found that many parents experience a sense of relief once they know 'the reason' for their child's problems, even when the result is a VUS, and that they felt it helped them to accept their child's symptoms. 23,24 The 'newness of microarray testing' Describing CMA testing as 'new' occurred in letters written from 2010 to 2013 and by seven individual doctors. This language is consistent with a previous study which found doctors use statements such as 'this testing is still new' in order to provide context for the patient/family regarding the source of uncertainty.…”

Section: Discussion Of Causal Uncertaintymentioning

confidence: 99%

“…This language is consistent with a previous study which found doctors use statements such as 'this testing is still new' in order to provide context for the patient/family regarding the source of uncertainty. 25 Furthermore, Pereira 24 and Wilkins 23 have suggested that parents of children diagnosed with a VUS valued the CG providing context around the 'newness' of CMA testing. The notion of providing context for uncertain findings by using words such as 'new' and terms such as 'evolving understanding' was confirmed by the doctors in the focus group.…”

Section: Discussion Of Causal Uncertaintymentioning

confidence: 99%

“…23,34,35 In cases where clinical evaluation is less important, genetic counsellors could take the role of providing follow-up. Contact with a genetic counsellor following their consultation would offer opportunities to address misunderstandings and facilitate positive adaptation in the patient and their family, which is central to the genetic counselling process.…”

Section: Discussionmentioning

confidence: 99%

“…However, as many studies have consistently found, adequate follow-up is associated with improved psychosocial outcomes for patients and their families who value follow-up appointments for a range of reasons beyond clinical utility. 23,24,28 Providing hope Doctors demonstrated a strong epistemic stance towards future improvements in technology and knowledge suggesting strong commitment to these statements. This strong epistemic stance may suggest that doctors are confident the improvements will eventuate.…”

Section: Review Appointmentsmentioning

confidence: 99%

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Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice

et al. 2016

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Letter-writing is an integral practice for genetic health professionals. In Victoria, Australia, patients with a chromosomal variant of uncertain clinical significance (VUS) referred to a clinical geneticist (CG) for evaluation receive consultation summary letters. While communication of uncertainty has been explored in research to some extent, little has focused on how uncertainty is communicated within consultation letters. We aimed to develop a multi-layered understanding of the ways in which CGs communicate diagnostic uncertainty in consultation summary letters. We used theme-oriented discourse analysis of 49 consultation summary letters and thematic analysis of a focus group involving eight CGs. Results showed that CGs have become more confident in their description of VUS as 'contributing factors' to patients' clinical features, but remain hesitant to assign definitive causality. CGs displayed strong epistemic stance when discussing future technological improvements to provide hope and minimise potentially disappointing outcomes for patients and families. CGs reported feeling overwhelmed by their workload associated with increasing numbers of patients with VUS, and this has led to a reduction in the number of review appointments offered over time. This study provides a rich description of the content and process of summary letters discussing VUS. Our findings have implications for letter-writing and workforce management. Furthermore, these findings may be of relevance to VUS identified by genomic sequencing in clinical practice. European Journal of Human Genetics (2017) 25, 22-30; doi:10.1038/ejhg.2016.135; published online 16 November 2016 INTRODUCTIONChromosomal microarray (CMA) is currently recommended as a firsttier diagnostic test for children with global developmental delay, intellectual disability and autism spectrum disorder. 1 The higher resolution of CMA in detecting copy number variations (CNVs) has resulted in a 15-20% diagnostic yield compared to 3% with conventional karyotyping in this patient cohort. 1 Additionally, CMA has resulted in a greater detection of chromosomal variants of uncertain clinical significance (VUS). 2,3 Although VUS are enriched in patient cohorts, they are also identified in apparently healthy control populations, and therefore their clinical significance is uncertain.The Victorian Clinical Genetics Services (VCGS) in Melbourne, Australia began using CMAs diagnostically in 2009 and has reported approximately 37 000 CMA results, including approximately 1500 VUS at the time of this study. Two recurrent microdeletions consistently reported at the time by the VCGS laboratory as VUS involve chromosome regions 15q11.2 (containing the NIPA1 and NIPA2 genes) and 16p13.11 (containing the NDE1 gene). These microdeletions can be inherited or arise de novo. They are incompletely penetrant, and phenotypic expressivity is often highly variable even within families. 4,5 Patients in whom a VUS is detected by CMA are seen by a clinical geneticist (CG) for clinical evaluation and genetic...

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Section: Discussion Of Causal Uncertaintymentioning

confidence: 99%

Section: Discussion Of Causal Uncertaintymentioning

confidence: 99%

Section: Discussion Of Causal Uncertaintymentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Review Appointmentsmentioning

confidence: 99%

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Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice

et al. 2016

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Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing

Neustadt

Owczarzak

et al. 2020

Journal of Genetic Counseling

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Patients pursuing exome sequencing (ES) in their quest for diagnosis will most often experience unresolved uncertainty from their ES results because the majority of ES results are non-diagnostic. This study explored and compared the experiences of receiving two types of ES results that may result in diagnostic uncertainty. Semistructured phone interviews were conducted with 23 adult patients with undiagnosed conditions who received either a negative result or a result with one or more variants of uncertain significance (VUSs) from ES. Interviews were transcribed and subjected to thematic and comparative analyses. Participants accurately understood their results and described various sources of genomic uncertainty including probability, complexity, and ambiguity. Their acclimation to illness uncertainty resulted in realistic expectations about and acceptance of their results. Participants still hoped that ES would end their diagnostic odyssey. Hope and optimism were used to cope with continued uncertainty. No thematic differences were found between the experiences of those who received negative results versus those who received VUSs. Our findings may inform clinical practices of informed consent and disclosure of negative results and VUSs through a greater consideration of patients' reactions, concerns, and challenges with adaptation to uncertainty.

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Whether, when, and how to communicate genetic risk to minors: ‘I wanted more information but I think they were scared I couldn’t handle it’

Stuttgen

McCague

Bollinger

et al. 2020

Journal of Genetic Counseling

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Genetic test results are often relevant not only to persons tested, but also to their children. Questions of whether, when, and how to disclose parental test results to children, particularly minors, can be difficult for parents to navigate. Currently, limited data are available on these questions from the perspective of minors. In this qualitative study, semi‐structured interviews were conducted with parents affected by or at risk for hereditary cancer (N = 17) or Huntington's disease (N = 14) and their mature minor children aged 15–17 (N = 34). Parents and mature minors were interviewed separately. Genetic counselors (GCs; N = 19) were also interviewed. Most parents interviewed wanted to protect minors from genetic risk information (GRI) and feared minors would not be able to handle GRI. However, most mature minors reported they did not receive enough information and wished their parent was more forthcoming. Parents recommended taking time to process one's own test results before communicating with minors, and mature minors recommended parents communicate GRI in an honest, hopeful way. Most parents and GCs felt additional resources on communicating with minors about GRI and various genetic conditions are needed. This study includes the experiences and perspectives of a well‐informed cohort, and results should be taken into careful consideration by parents, GCs, and others who are faced with communicating GRI to minors.

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“It wasn't a disaster or anything”: Parents’ experiences of their child's uncertain chromosomal microarray result

Cited by 32 publications

References 39 publications

Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice

Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice

Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing

Whether, when, and how to communicate genetic risk to minors: ‘I wanted more information but I think they were scared I couldn’t handle it’

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