Chromosomal microarray testing influences medical management

Coulter, Michael; Miller, David T.; Harris, David J.; Hawley, Pamela; Picker, Jonathan; Roberts, Amy; Sobeih, Magdi M.; Irons, Mira

doi:10.1097/gim.0b013e31821dd54a

Cited by 113 publications

(126 citation statements)

References 20 publications

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“…29,30 Currently, two methods of CMA are used in the clinical setting. Array-comparative genomic hybridization and single-nucleotide polymorphism arrays use different techniques to scan the genome for copy-number variants (CNVs).…”

Section: Chromosomal Microarraymentioning

confidence: 99%

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

Schaefer

Mendelsohn

2013

Genetics in Medicine

445

393

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Autism spectrum disorders (ASDs), also known as pervasive developmental disorders, are a behaviorally defined group of neurodevelopmental disorders that are usually diagnosed in early childhood. They are characterized by varying degrees of limitations in communication and social interaction and by atypical, repetitive behaviors with an onset before 3 years of age. The phenotype of ASDs is extremely heterogeneous, with differences from person to person in a wide range of symptoms and severity as well as differences between the various subtypes of ASDs (e.g., autistic disorder, Asperger syndrome, and pervasive developmental disorder not otherwise specified).Multiple lines of epidemiologic evidence support the strong role of genetics in the etiology of ASDs. 1-3 Results of population studies of unselected cases of autism are most consistent with multifactorial inheritance. Until quite recently, the accepted recurrence risk for full siblings of a child with autism has been in the range of 3-10%. [4][5][6] Overall, only 2-3% of families have more than one affected child (possibly because of voluntary avoidance of pregnancy after a child is diagnosed). Most studies have reported a sex bias in the recurrence risk in keeping with the presumption of a "multifactorial" mode of inheritance (higher risk if the affected person is of the less commonly affected sex). As such, the reported risk is 7% of another affected child if the first affected child is female and 4% if the first affected child is male. 7 If multiple children (two or more) have autism, the recurrence risk is on the order of 33-50% for any future pregnancy. 7 Two recent studies 8,9 have reported even higher recurrence risks of 11 and 19% with single-sibling involvement. The first 8 was a retrospective self-enrolled/self-identified study using an interactive website. The diagnosis was confirmed, but the identification of second siblings may be a source of ascertainment bias. The second 9 was an international multisite prospective study in 664 families with a calculated 19% recurrence risk. Interestingly, the typically reported sex bias was not noted in one of these studies. 8 Both were single studies that bear replication.The autism spectrum disorders are a collective of conditions that have in common impaired socialization and communication in association with stereotypic behaviors. The reported incidence of autism spectrum disorders has increased dramatically over the past two decades. In addition, increased attention has been paid to these conditions by both lay and professional groups. These trends have resulted in an increase in the number of referrals to clinical geneticist for the evaluation of persons with autism spectrum disorders. The primary roles of the geneticist in this process are to define etiology when possible, to provide genetic counseling, and to contribute to case management. In deciding on the appropriate evaluation for a particular patient, the geneticist will consider a host of factors: (i) ensuring an accurate diagnosis of autism befor...

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Section: Chromosomal Microarraymentioning

confidence: 99%

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

Schaefer

Mendelsohn

2013

Genetics in Medicine

445

393

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“…It has also been reported that microarray analysis in support of a patient's standard of care impacts patient management up to 70% of the time. [7][8][9][10] Because clinical management decisions are sometimes subjective, the percentages vary. In two large retrospective studies representing slightly less than a total of 75,000 patients, it was estimated that 35-46% of patients with pathogenic cytogenetic findings and 7% of all patients would have some sort of change in clinical management based on microarray results.…”

Section: Introductionmentioning

confidence: 99%

“…7,8 Two other studies reported on retrospective cohorts for which actual rates of clinical implications were available and found that more than 50% of all patients with abnormalities had clinical management changes based on microarray results. 9,11 Although microarrays are now common first-tier tests in this patient population and Original research article supported by medical guidelines from the American College of Medical Genetics and Genomics (ACMG), 12 the International Collaboration for Clinical Genomics (ISCA/ICCG), 5 and the American Academy of Neurology, 13 payer reimbursement for testing is inconsistent, indicating the need for additional systematic studies assessing the changes in patient management that occur as a result of microarray testing.…”

Section: Introductionmentioning

confidence: 99%

Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Pfundt

Kwiatkowski²,

Roter³

et al. 2016

Genetics in Medicine

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“…Understanding the underlying genetic etiology of DD/ID/ ASD plays an important role in medical management (Coulter et al 2011). When attempting to detect a genetic etiology for DD/ID/ASD, a variant of unknown significance (VUS) result is not uncommon.…”

Section: Introductionmentioning

confidence: 99%

Variants of unknown significance on chromosomal microarray analysis: parental perspectives

et al. 2015

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Chromosomal microarray is the recommended first-tier genetic test when a child presents with idiopathic developmental delay (DD), intellectual disability (ID), and/ or autism spectrum disorder (ASD). Microarray may discover variants of unknown clinical significance (VUS) and been suggested to cause parental stress and anxiety. A retrospective, mixed methods study investigated parental perceptions of chromosomal microarray results that contain VUS. Surveys were sent to parents of children with DD/ID/ASD following a VUS result to seek information regarding parental understanding of the result, perceived value, and perceptions of child vulnerability and parental stress. Parents reported that chromosomal microarray was important for understanding their child's diagnosis and they were satisfied with the information. A majority of parents reported high confidence in their ability to explain a VUS result to others. Of the parents who reported they received support, many reported that the support was from a genetic counselor. Based on these results, VUS results are important to parents of children with DD/ID/ ASD and genetic counseling regarding VUS results contributes positively to both parental understanding and support.

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Chromosomal microarray testing influences medical management

Cited by 113 publications

References 20 publications

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Variants of unknown significance on chromosomal microarray analysis: parental perspectives

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