Underdiagnosis of hereditary breast and ovarian cancer in Medicare patients: Genetic testing criteria miss the mark.
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Annals of Surgical Oncology. Published online August 1, 2017. doi:10.1245/s10434-017-5963-7Sources of discordance among germ-line variant classifications in ClinVar.
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Genetics in Medicine. Published online June 1, 2017. doi:10.1038/gim.2017.60Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
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Genetics in Medicine. Published online May 11, 2017. doi:10.1038/gim.2017.37 Consistency of BRCA1 and BRCA2 variant classifications among clinical diagnostic laboratories.
Lincoln SE, Yang S, Cline MS, Kobayashi Y, Zhang C, Topper S, Haussler D, Paten B, Nussbaum RL.
JCO Precision Oncology. Published online April 11, 2017. doi:10.1200/PO.16.00020 Pathogenic variant burden in the ExAC database: An empirical approach to evaluating population data for clinical variant interpretation.
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Genome Medicine. 2017, 9, 13. doi:10.1186/S13073-017-0403-7 Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges.
Sahoo T, Dzidic N, Strecker MN, Commander S, Travis MK, Doherty C, Tyson RW, Mendoza AE, Stephenson M, Dise CA, Benito CW, Ziadie MS, Hovanes K.
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PRESENTATIONSAn international interlaboratory study of complex pathogenic variants In hereditary breast/ovarian cancer
POSTERSDetection of NF1 variants by NGS panels with SMV and CNV identification exceeds published estimates and improves clinical utility Multigene panel screening for hereditary disease risk in healthy individuals
PRESENTATIONSSecondary findings in hereditary cancer genes from multigene panel data: A new frontier unanticipated by the ACMGAn interlaboratory study of complex variant detection in clinical testing
Molecular diagnostic findings of lysosomal storage diseases in children and adults suspected to have inborn errors of metabolism Genetic testing for lysosomal storage disorders in a commercial laboratory: Use of pathognomonic criteria in variant interpretation ConnectMPS registry project: Connecting mucopolysaccharidosis and mucolipidosis patients
POSTERSAneuploidy rates in embryos generated from fresh versus frozen donor oocytes
POSTERSBroadening the scope: Expanding ordering patterns in suspected hereditary CRC
POSTERSPaperwork matters! The importance of clinical phenotype information in variant interpretation
PRESENTATIONSGenetic screening for healthy individuals: Preliminary results from a medically actionable genetic screening panel An inter-laboratory study of complex variant detection in clinical testing
POSTERSPaperwork matters! The importance of clinical phenotype information in variant interpretation
PRESENTATIONSFollowing somatic tumor testing with germline analysis: Considerations for genetic counseling practice The elephant in the room: TTN
PRESENTATIONSCopy number variant analysis enhances molecular diagnostic yield of inborn errors of metabolism
POSTERSDetermining the clinical value of germline genetic testing coupled with tumor mutation profiling
PRESENTATIONPathogenic variants in calmodulin associated with resuscitated childhood cardiac arrest
POSTERACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?
POSTERSExpanded gene panel utilization in women with breast cancer: identification and intervention beyond breast cancer risk Hereditary cancer risk: A growing body of evidence supporting broader testing
POSTERSAttitudes of healthy early adopters toward professional genome sequencing: Observations from the PeopleSeq Consortium The benefit of a medically actionable genetic screening panel in healthy individuals: A case report
PRESENTATIONSThe spectrum of pathogenic variants underlying multiple conditions in 80,000 patients: Implications for test implementation, utilization and validation Tracing the dark matter: Prevalence of copy number and structural variants across Mendelian disorders
posterMale breast cancer: The role of next-generation sequencing panels in determining biology
POSTERSAccurate detection of copy-number changes in the highly conserved regions of PMS2 using NGSAttitudes regarding personal genomic sequencing among healthy early adopters: Findings from the PeopleSeq ConsortiumCreating a medically actionable genetic screening panel for healthy individuals
POSTERSMammalian species conservation data and the implications for clinical variant classificationNovel large rearrangement of RAD51D in an ovarian and breast cancer family
presentationsBioinformatics for genetic counselors, version 2.0
posterCopy number variation in clinical tests for inherited cardiomyopathies and arrhythmias
presentationWhat have public databases taught us about variant classification?
postersVariant classifications for BRCA1 and BRCA2 are substantially concordant across major clinical testing laboratories The expanding phenotype of PALB2-related cancer: clinical presentations of 144 identified carriers
presentationMosaic genetic variants in hereditary germline genetic testing: the expected and the unexpected
posterClinical presentation and management considerations for 77 breast cancer patients with germline PALB2 mutations
posterClinical actionability of panel tests for genes in the NCCN Guidelines for Hereditary Breast and Ovarian Cancer Clinical presentations of 111 patients with germline PALB2 mutations: Looking beyond breast and ovarian cancer
posterPreparing for the unexpected: Panel-based testing of ovarian cancer patients reveals actionable variants in non-canonical genes
postersClinical actionability of non-BRCA1/2 mutations uncovered in multigene tests for hereditary breast cancer Variant classifications for BRCA1 and BRCA2 are highly concordant across major clinical testing laboratories Clinical presentation and management considerations for 68 breast cancer patients with germline PALB2 mutations
postersAllele frequency distribution of pathogenic sequence variants in ExAC and the implications for clinical genetic testing Expanding phenotypes of cancer predisposition genes: CDKN2A Detection of novel Alu insertions by next-generation sequencing of hereditary cancer genes Challenges of content expansion with panel testing: incorporating informatics into the clinical report Rare disease diagnosis obstacles: patient perspectives and physician findings To include or not to include: RASopathy genes in cardiomyopathy genetic testing To confirm or not to confirm, that is the question: a rigorous approach to evaluating the importance of Sanger confirmation of clinical NGS findings
presentationDon't believe everything you hear: Variant classifications for BRCA1 and BRCA2 are highly concordant across major clinical testing laboratories
postersAn opportunity or dilemma? Customizable panel tests and clinician ordering behavior Establishing and evaluating a framework for describing variant evidence in clinical genomic reports Sherloc- Evaluation of a score-based implementation of the AMP-ACMG ISV guidelines in a scalable genetic diagnostic laboratory
PresentationsAnalytic validation standards for NGS assays and new reference materials needed A rigorous approach to evaluating the importance of Sanger Confirmation of NGS findings
postersClinical actionability of multigene tests for hereditary breast and ovarian cancer Integration of the ACMG ISV guidelines into clinical variant analysis and interpretation processes- A model for diagnostic standardization Moving beyond the 1%- incorporating the Exome Aggregation Consortium (ExAC) data into variant interpretation and classification To confirm or not confirm, that is the question: A rigorous approach to evaluating the importance of sanger confirmation of clinical NGS findings Understanding psychiatrists’ perceptions surrounding psychiatric genetics and genetic counseling services
PresentationsFinding just right- Balancing payer and provider goals for hereditary genetic testing Next generation sequencing- Challenges and strategies in testing patients with circulating hematopoietic malignancies Validation of clinical genetic tests - or – How to stop worrying and love the data!