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Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics

  • Published:2021-09-24 Issue:4 Volume:12 Page:663-670
  • ISSN:1868-310X
  • Container-title:Journal of Community Genetics
  • language:en
  • Short-container-title:J Community Genet

Author:

Margolin Amy,Helm Benjamin M.,Treat Kayla,Prucka Sandra K.,Halverson Colin M. E.

Funder

university school of medicine genetic counseling graduate program

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Public Health, Environmental and Occupational Health,Epidemiology

Reference28 articles.

1. Ali-Khan SE, Daar AS, Shuman C, Ray PN, Scherer SW (2009) Whole genome scanning: resolving clinical diagnosis and management amidst complex data. Pediatr Res 66(4):357–363. https://doi.org/10.1203/PDR.0b013e3181b0cbd8

2. Balmaña J, Digiovanni L, Gaddam P, Walsh MF, Joseph V, Stadler ZK, … Domchek SM. (2016) Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the prospective registry of multiplex testing. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 34(34), 4071–4078. https://doi.org/10.1200/JCO.2016.68.4316

3. Chisholm C, Daoud H, Ghani M, Mettler G, McGowan-Jordan J, Sinclair-Bourque L, … Jarinova O. (2018) Reinterpretation of sequence variants: one diagnostic laboratory’s experience and the need for standard guidelines. Genetics in Medicine 20(3) 365-368. https://doi.org/10.1038/gim.2017.191

4. David KL, Best RG, Brenman LM, Bush L, Deignan JL, Flannery D, … ACMG Social Ethical Legal Issues Committee (2019) Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics 21(4) 769–771. https://doi.org/10.1038/s41436-018-0391-z

5. Desai P, Haber H, Bulafka J, Russell A, Clifton R, Zachary J, … Chung WK. (2018) Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing. Prenatal diagnosis 38(10) 740–747. https://doi.org/10.1002/pd.5323

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