What process attributes of clinical genetics services could maximise patient benefits?

McAllister, Marion; Payne, Katherine; MacLeod, Rhona; Nicholls, Stuart G.; Donnai, Dian; Davies, Linda

doi:10.1038/ejhg.2008.121

Cited by 41 publications

(42 citation statements)

References 29 publications

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“…A growing body of evidence supports the significant role played by physicians and other providers in improving adherence in this population [13,16,33,34,43]. It is therefore important that all providers become informed about current screening and treatment protocols [16,35,48]. …”

Section: Discussionmentioning

confidence: 99%

Lynch syndrome: barriers to and facilitators of screening and disease management

Watkins

Way

Fiander

et al. 2011

Hered Cancer Clin Pract

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BackgroundLynch syndrome is a hereditary cancer with confirmed carriers at high risk for colorectal (CRC) and extracolonic cancers. The purpose of the current study was to develop a greater understanding of the factors influencing decisions about disease management post-genetic testing.MethodsThe study used a grounded theory approach to data collection and analysis as part of a multiphase project examining the psychosocial and behavioral impact of predictive DNA testing for Lynch syndrome. Individual and small group interviews were conducted with individuals from 10 families with the MSH2 intron 5 splice site mutation or exon 8 deletion. The data from confirmed carriers (n = 23) were subjected to re-analysis to identify key barriers to and/or facilitators of screening and disease management.ResultsThematic analysis identified personal, health care provider and health care system factors as dominant barriers to and/or facilitators of managing Lynch syndrome. Person-centered factors reflect risk perceptions and decision-making, and enduring screening/disease management. The perceived knowledge and clinical management skills of health care providers also influenced participation in recommended protocols. The health care system barriers/facilitators are defined in terms of continuity of care and coordination of services among providers.ConclusionsIndividuals with Lynch syndrome often encounter multiple barriers to and facilitators of disease management that go beyond the individual to the provider and health care system levels. The current organization and implementation of health care services are inadequate. A coordinated system of local services capable of providing integrated, efficient health care and follow-up, populated by providers with knowledge of hereditary cancer, is necessary to maintain optimal health.

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Section: Discussionmentioning

confidence: 99%

Lynch syndrome: barriers to and facilitators of screening and disease management

Watkins

Way

Fiander

et al. 2011

Hered Cancer Clin Pract

View full text Add to dashboard Cite

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“…For decades there has been a need for more appropriate tools to measure the benefits of genetic testing and genetic counselling services, [8][9][10] but there is still a need to further operationalize the concept of benefit in relation to genetic testing. The authors of the paper have not defined genetic testing, but it is to be assumed that they refer not only to the laboratory component, but also the clinical counselling support involved.…”

mentioning

confidence: 99%

Fair allocation of health-care resources: finding a model that does not disenfranchise users of genetic services. A commentary on Rogowski et al....

Skirton

2013

Eur J Hum Genet

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“…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%

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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What process attributes of clinical genetics services could maximise patient benefits?

Cited by 41 publications

References 29 publications

Lynch syndrome: barriers to and facilitators of screening and disease management

Lynch syndrome: barriers to and facilitators of screening and disease management

Fair allocation of health-care resources: finding a model that does not disenfranchise users of genetic services. A commentary on Rogowski et al....

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

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