Literature DB >> 30578420

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

Karen L David1, Robert G Best2, Leslie Manace Brenman3, Lynn Bush4,5, Joshua L Deignan6, David Flannery7, Jodi D Hoffman8, Ingrid Holm9, David T Miller5, James O'Leary10, Reed E Pyeritz11.   

Abstract

Entities:  

Keywords:  clinical genetics; duty to re-contact; medical ethics; reinterpretation of genomic results; variant reclassification

Mesh：

Year:  2018        PMID： 30578420     DOI： 10.1038/s41436-018-0391-z

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  25 in total

1.  How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care?

Authors:  Barbara J Evans; Gail Javitt; Ralph Hall; Megan Robertson; Pilar Ossorio; Susan M Wolf; Thomas Morgan; Ellen Wright Clayton
Journal:  J Law Med Ethics       Date:  2020-03       Impact factor: 1.718

2.  Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records.

Authors:  Shibani Kanungo; Jayne Barr; Parker Crutchfield; Casey Fealko; Neelkamal Soares
Journal:  Appl Clin Inform       Date:  2020-11-11       Impact factor: 2.342

3.  Preemptively Precise: Returning and Updating Pharmacogenetic Test Results to Realize the Benefits of Preemptive Testing.

Authors:  Cyrine E Haidar; Mary V Relling; James M Hoffman
Journal:  Clin Pharmacol Ther       Date:  2019-09-14       Impact factor: 6.875

4.  Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Joshua L Deignan; Wendy K Chung; Hutton M Kearney; Kristin G Monaghan; Catherine W Rehder; Elizabeth C Chao
Journal:  Genet Med       Date:  2019-04-24       Impact factor: 8.822

5.  A duty to recontact in genetics: context matters.

Authors:  Noor A A Giesbertz; Wim H van Harten; Annelien L Bredenoord
Journal:  Nat Rev Genet       Date:  2019-07       Impact factor: 53.242

Review 6.  Genetic Counseling and Genome Sequencing in Pediatric Rare Disease.

Authors:  Alison M Elliott
Journal:  Cold Spring Harb Perspect Med       Date:  2020-03-02       Impact factor: 6.915

7.  "I wish that there was more info": characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants.

Authors:  Kathryn G Reyes; Cheyla Clark; Meredith Gerhart; Ainsley J Newson; Kelly E Ormond
Journal:  Fam Cancer       Date:  2021-04-15       Impact factor: 2.375

8.  Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.

Authors:  Juliann M Savatt; Danielle R Azzariti; David H Ledbetter; Emily Palen; Heidi L Rehm; Erin Rooney Riggs; Christa Lese Martin
Journal:  Genet Med       Date:  2021-05-18       Impact factor: 8.822

9.  Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Catherine Rehder; Lora J H Bean; David Bick; Elizabeth Chao; Wendy Chung; Soma Das; Julianne O'Daniel; Heidi Rehm; Vandana Shashi; Lisa M Vincent
Journal:  Genet Med       Date:  2021-04-29       Impact factor: 8.822

10.  Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis.

Authors:  Chloe Mighton; Salma Shickh; Elizabeth Uleryk; Petros Pechlivanoglou; Yvonne Bombard
Journal:  Genet Med       Date:  2020-09-14       Impact factor: 8.822
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