CGI is an independent, nonprofit organization with the mission to encourage careful stewardship of clinical genetics, genomics, and precision medicine.
Joined October 2016
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Hi #GCchat and other users of #ClinVar. You'll want to watch this video we just launched to train clinicians & researchers on the common sources of #GermLine #VariantClassification errors within the context of ClinVar entries. Please share it with others.
youtube.com/watch?v=eHsWrS44…
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#GeneticCounselors & #obgyn docs, if you want to have transparency from #HereditaryCancer testing labs about testing accuracy, gene selection, and test access, please sign the digital petition at testwisely.org/supporters/, and review the transparency survey sent to labs.
#GCchat
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So far only @PrevGenetics is being transparent. @GeneDx, @questdiag, @myriadgenetics, @Invitae, @AmbryGenetics r deciding whether to participate. @ARUPLabs, @ColorGenomics, @FulgentGenetics, @Labcorp, & @NateraGenetics r silent. Due date for participation is 21 July '23. #GCchat
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US Congress plz pass #VALIDact. Here's y: genomicinterpretation.org/do…. Insufficient oversight has led to #PrecisionMedicine being a game of chance 4 patients. 2 often diagnostics r inaccurate, leading to wrong patient care. We KNOW this since our nonprofit assesses accuracy of tests.
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#CenterForGenomicInterpretation supports #ValidAct giving #FDA ability to regulate #ClinicalGenetics & #Genomics tests.
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#PrecisionMedicine
Today we #GiveThanks to all genetic counselors, and particularly those who help us out at the Center for Genomic Interpretation.
#GCchat
#IAmAGeneticCounselor
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Worried that your lab or a partner lab isn't doing enough to ensure challenging variant classes are being detected? Let our in silico proficiency testing pipeline #ELEVATEGENETICS BRILLIANT identify any gaps. Reach out to CGI to learn more.
#gcchat #clinicalgenetics #genomics
Our #ELEVATEGENETICS BRILLIANT service helps stakeholders discover which genetic/genomic tests can detect challenging variants and carefully classify them, and which can't. This publication can be downloaded here: nature.com/articles/s41436-0…
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Health insurance payers have started using our #ELEVATEGENETICS services to reveal which genetics/genomics tests and labs are most accurate and useful. Clinicians should be asking for #ELEVATEGENETICS metrics too.
genomicinterpretation.org/el…
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We need a body to certify lab quality beyond CAP/CLIA... Current Discussion at the @SCHPLUGS Summit #GCchat #PLUGSsummit21
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In silico proficiency sample testing makes clinical genetics and genomics more accurate. Dr. John Pfeifer explains how and why in this episode of The Rising Tide Podcast. Watch the full episode genomicinterpretation.org/ri…
#gcchat #clinicalgenetics #Genomics
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False positives occur primarily from over-interpretation of genetic/genomic variants. And yet genetic variant classification is entirely unregulated in the USA.
#gcchat #clinicalgenetics #Genomics
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CGI has worked with Dr. John Pfeifer to create biologically relevant in silico Proficiency Testing in our #ELEVATEGENETICS BRILLIANT quality reviews that include "edge" cases. Learn more here: genomicinterpretation.org/el…
#gcchat #clinicalgenetics #Genomics
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#clinicalgenetics/#Genomics test providers & payers that pay for these tests, as well as precision medicine clinicians need to carefully weigh the pros and cons of more sensitive tests that achieve higher sensitivity through super-sizing the gene panel.
#gcchat
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"Given that variant classification guidelines rely heavily on expert opinion, it is fair to consider expert opinion when exploring the strengths and limitations of the guidelines."
#gcchat #clinicalgenetics #clinicalgenomics
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Our #ELEVATEGENETICS services provide the best and most complete quality and accuracy metrics on competing genetic/genomic tests in the USA clinical market. Reach out to #CenterForGenomicInterpretation to learn more.
#gcchat #clinicalgenetics #clinicalgenomics
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This is a must-read review outlining the current strengths and weaknesses of modern clinical genetic/genomic testing. Read it here, annualreviews.org/doi/full/1…, or you can have the first author read it to you on YouTube by following this link: youtube.com/playlist?list=PL…
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We published a paper! Read it here annualreviews.org/doi/full/1… OR watch the first author, Hunter Giles, read it to you, here youtube.com/playlist?list=PL…. Yes, our boss really had him video himself reading the paper!
#gcchat #clinicalgenetics #clinicalgenomics
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The future utility of precision medicine heavily relies on the accuracy of genetic and genomic tests.
#gcchat #clinicalgenetics #clinicalgenomics
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Not all genetic/genomic sequencing tests are sufficiently accurate to accomplish the goals you have in your setting, but rarely do you, or the labs you work with, know this. Reach out to #CenterForGenomicInterpretation to learn more.
#gcchat #clinicalgenetics #clinicalgenomics
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Clinicians and genetic counselors can address gaps in clinical testing by asking labs specific questions, as suggested by Dr. Madhuri Hegde. Listen or watch Dr. Hegde's Rising Tide Podcast episode at genomicinterpretation.org/ri…
#gcchat #clinicalgenetics #clinicalgenomics
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