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ACMG Statements and Guidelines
These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.
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- ACMG Policy StatementOpen Archive
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 MedicineVol. 21Issue 4p769–771Published in issue: April, 2019- Karen L. David
- Robert G. Best
- Leslie Manace Brenman
- Lynn Bush
- Joshua L. Deignan
- David Flannery
- and others
Cited in Scopus: 70Nearly two decades ago, the American College of Medical Genetics (now the American College of Medical Genetics and Genomics [ACMG]) Policy Statement “Duty to re-contact” was prescient in highlighting the increasingly important issue of patient re-contact.1 Originally focused on clinical genetics practice, its importance now extends to both medical genomics and medical practice in general. Next-generation genomic testing, including multigene panels, exome sequencing (ES), and genome sequencing (GS), is permitting ever larger amounts of data to be collected on each patient sample, with a corresponding increase in the complexity of the results. - ACMG Practice GuidelinesOpen Archive
Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 20Issue 7p692–694Published in issue: July, 2018- Lynn W. Bush
- Louis E. Bartoshesky
- Karen L. David
- Benjamin Wilfond
- Janet L. Williams
- Ingrid A. Holm
- and others
Cited in Scopus: 13As exome and genome sequencing become more widely incorporated into clinical pediatric care, it becomes increasingly important to encourage a robust engagement process with the mature older child and adolescent patient to facilitate meaningful conversation that can aid in the complex decision-making and return of findings process around genomic testing. A dialogue that promotes this engagement process is best attained when the clinician shares salient information, including the relatively distinct implications of the test, while listening and responding to the child’s evolving perspectives as well as the parent(s)’ concerns (“parent” used broadly throughout to include guardians and others who act in this capacity for the genetics encounter). - ACMG Policy StatementOpen Archive
Technical report: ethical and policy issues in genetic testing and screening of children
Genetics in MedicineVol. 15Issue 3p234–245Published in issue: March, 2013- Laine Friedman Ross
- Howard M. Saal
- Karen L. David
- Rebecca R. Anderson
- the American Academy of Pediatrics; American College of Medical Genetics and Genomics
Cited in Scopus: 307The genetic testing and genetic screening of children are commonplace. Decisions about whether to offer genetic testing and screening should be driven by the best interest of the child. The growing literature on the psychosocial and clinical effects of such testing and screening can help inform best practices. This technical report provides ethical justification and empirical data in support of the proposed policy recommendations regarding such practices in a myriad of settings.Genet Med 2013:15(3):234–245 - ACMG Standards and GuidelinesOpen Archive
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing
Genetics in MedicineVol. 15Issue 2p150–152Published in issue: February, 2013- Catherine W. Rehder
- Karen L. David
- Betsy Hirsch
- Helga V. Toriello
- Carolyn M. Wilson
- Hutton M. Kearney
Cited in Scopus: 74Genomic testing, including single-nucleotide polymorphism–based microarrays and whole-genome sequencing, can detect long stretches of the genome that display homozygosity. The presence of these segments, when distributed across multiple chromosomes, can indicate a familial relationship between the proband’s parents. This article describes the detection of possible consanguinity by genomic testing and the factors confounding the inference of a specific parental relationship. It is designed to guide the documentation of suspected consanguinity by clinical laboratory professionals and to alert laboratories to the need to establish a reporting policy in conjunction with their ethics review committee and legal counsel.
