Women’s Experiences Receiving Abnormal Prenatal Chromosomal Microarray Testing Results

Soucier, Danielle; Hanson, Karen; Savage, Melissa; Jackson, Laird G.; Wapner, Ronald J.

doi:10.1097/01.ogx.0000431316.07456.f4

Cited by 23 publications

(34 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, research in prenatal genetic counseling suggests helping individuals make informed decisions about pursuing personal genomic results may reduce the likelihood of negative psychological outcomes. [15][16][17] Informed decisions are decisions that are informed by adequate knowledge about the technology (e.g., risks, benefits, limitations, uncertainties) and that are consistent Purpose: Health-care professionals need to be trained to work with whole-genome sequencing (WGS) in their practice. Our aim was to explore how students responded to a novel genome analysis course that included the option to analyze their own genomes.…”

Section: Introductionmentioning

confidence: 99%

How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study

Sanderson

Linderman

Zinberg

et al. 2015

Genetics in Medicine

View full text Add to dashboard Cite

Conclusion:Giving students the option of analyzing their own genomes may increase motivation to learn, but some students may experience personal WGS results-related distress and regret. Additional evidence is required before considering incorporating optional personal genome analysis into medical education on a large scale. Genet Med advance online publication 29 January 2015Key Words: genetic education; medical education; personal genomes; whole-genome sequencing 867Personal genome analysis in medical education | SANDERSON et al Original research articlewith the individual's values. 18,19 Courses that provide students the option of analyzing their own genomes must help them make thoughtful and careful decisions about whether personal genome analysis is right for them as individuals. 10,20 We therefore designed a required 26-h introductory course, an advanced personal genomics course, and an accompanying sequencing protocol in which students could choose to analyze their own or an anonymous personal genome. As previously reported, we observed increases in informed decision making among this student cohort, as measured by decreased decisional conflict after the introductory course. 20 The objectives of this report are to explore the educational and psychological outcomes of the students who had the option of analyzing their own WGS data as part of their advanced genomics training. MATeRIALs AND MeTHODsThis was a longitudinal cohort study that took place at the Icahn School of Medicine at Mount Sinai (ISMMS) in New York between September 2012 and September 2013. The protocols for both the sequencing component and the social science research component of the course were submitted to the ISMMS institutional review board. The board determined that the primary aim of the research was to assess the students' decision making and outcomes regarding analyzing their own genomes in an educational setting and that the research (questionnaires, interviews) addressing these aims posed no greater than minimal risk and met criteria for exemption under category 2 research involving the use of educational tests or survey procedures.The institutional review board also determined that the sequencing was part of the educational experience and referred the course directors to the ISMMS Research Ethics Committee regarding this component of the proposed course. The research ethics committee reviewed the sequencing component, particularly focusing on confidentiality and coercion; the committee determined that their concerns regarding these ethical issues were addressed by the course design and so approved the sequencing as part of the course. The course also was reviewed and approved by the dean of the ISMMS and by the CePORTED Curriculum Committee. The course directors also consulted the medical center's general counsel and the New York State Department of Health while designing the course.Participants were 19 students (10 male, 9 female) enrolled in an advanced genomics course. Five were genetic counseling masters students, three medi...

show abstract

Section: Introductionmentioning

confidence: 99%

How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study

Sanderson

Linderman

Zinberg

et al. 2015

Genetics in Medicine

View full text Add to dashboard Cite

show abstract

“…36,37 Genetic counsellors are experienced at working with patients and their families to manage uncertainty and many have already begun adapting to managing the uncertainty associated with VUS, including the prenatal setting. 38 At VCGS genetic counsellors are now taking a leading role in management of patients with a CMA VUS. This shift in workforce will assist in managing the greater number of VUS diagnosed by CMA testing and whole exome/genome sequencing technology.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2016

View full text Add to dashboard Cite

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...

show abstract

“…If this happens, who decides what will be screened for? Will all identified genetic variants be shared with pregnant women, and how will they contend with the potential production of what Bernhardt et al call "toxic knowledge" [34]? Will pregnant women receive support in the form of expert counseling to digest the results of testing for a large range of genetic diseases and disorders [35]?…”

Section: The Future Landscape Of Prenatal Screening: Social and Ethicmentioning

confidence: 99%

Keeping the Backdoor to Eugenics Ajar?: Disability and the Future of Prenatal Screening

Thomas

Rothman

2016

AMA Journal of Ethics

View full text Add to dashboard Cite

Women’s Experiences Receiving Abnormal Prenatal Chromosomal Microarray Testing Results

Cited by 23 publications

References 0 publications

How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study

How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study

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

Keeping the Backdoor to Eugenics Ajar?: Disability and the Future of Prenatal Screening

Contact Info

Product

Resources

About