Genetics Nerd, CGC

Cancer Genetics Nerd 🧬 , Cat Mom 🐱, disability advocate, she/her

[Genetics Nerd, CGC @CatsAndGenetics]

@DGlaucomflecken It’s trash for most things disability accomodations wise. Very disheartening.

[Genetics in Medicine @GIMJournal]

Do #Fanconi Anemia heterozygotes have an increased #cancer risk? It looks like the long awaited answer is likely to be no. #genomefirst #DiscovEHR #populationgenetics https://t.co/06nqQH4Umq

[Ed Esplin, MD, PhD @EdEsplin]

#Germline #genetictesting (GGT) in >7,000 consecutive #patients w/ #lungcancer

>14% had PGVs, 63% in DDR genes e.g. #BRCA1 #BRCA2 #ATM #CHEK2, 95% clinically actionable

"The results from this study and previous reports suggest it is reasonable for clinicians to now consider GGT for all #patients diagnosed w/ #LungCancer"

https://t.co/agmaZ2vNVQ @JCOPO_ASCO @ASCO @Invitae

#universal #germlinetesting #access #reducedisparities #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention #LCSM #LCAM #lungcancerawarenessmonth

[Genetics Nerd, CGC @CatsAndGenetics]

@meghar111 @mixing808 @CGAIGC Can confirm! Really enjoyed it this year!

[Elizabeth Jordan @eksjordan]

Our latest findings from the @DCMProject recently published: Despite a higher estimated risk for familial DCM, detection of clinically actionable variants remains markedly lower in DCM patients of African Ancestry.

[UAB Genetic Counseling Training Program @UABGCTP]

There are many Loc(k)i variations in UAB 1st years!

Please LIKE this tweet to vote for the UAB GCTP to win and retweet to help us get more likes @UABGCTP #Hallogene23 #genechat @ASGCGP

[Heather Hampel @HHampel1]

Bryson Katona presenting data showing increased risk for gastric cancer in BRCA2 & ATM (and possibly BRCA1 & PALB2). Suggests H. pylori testing at dx (& treatment if +), endoscopic surveillance when undergoing EUS for pancreatic screening & if any upper GI symptoms. #CGAIGC23

[Genetics Nerd, CGC @CatsAndGenetics]

@womenofteal @HHampel1 I would also love this information for my li fraumeni patients.

[Heather Hampel @HHampel1]

Increasingly convinced that pharmacogenomics is important. 7% of people have a DPYD variant that causes an adverse reaction (including death) to 5-FU chemotherapy, yet it’s still not recommended in the US prior to 5-FU treatment. Great talk from Steve Offer at the US Oncology mtg

[Genetics Nerd, CGC @CatsAndGenetics]

One more reason why diversity in research is so imperative!

[Elizabeth Jordan @eksjordan]

Our latest findings from the @DCMProject recently published: Despite a higher estimated risk for familial DCM, detection of clinically actionable variants remains markedly lower in DCM patients of African Ancestry.

[BrySeq, MMSc, CGC @BrySeq]

“My job is just…gene”

[GenCOUNSEL @GenCOUNSEL_CA]

We are excited to share our new publication from @emmakblanche et al “Genetic counsellors' research dissemination practices and attitudes”. You can read the full article here: https://t.co/7YamB47V1R [⅙]

[Genomes2People @Genomes2People]

Given the availability of an increasing number of gene therapies, there is a need to better define the role of medical geneticists within this new treatment paradigm.

Read how medical geneticists can contribute to effective gene therapy implementation: https://t.co/PdXS1itzJd

[Sharon A. Savage, M.D. @SharonSavageMD]

Congratulations to all & especially to Dr. Blanche Alter who built our Inherited Bone Marrow Failure Syndromes program @NCIEpiTraining which has been foundational for so much science. #FanconiAnemia #DyskeratosisCongenita #DiamondBlackfanAnemia #ShwachmanDiamondSyndrome

[Prof Zornitza Stark @ZornitzaS]

Are we ready for #genomic newborn screening?
👶🧬🌏 #RareDisease

As multiple large studies launch internationally, @Rich_Genomics and I review the evidence and gaps that now need to be addressed to inform policy

📣Out now in @NatureRevGenet
👉https://t.co/DXjrT5wh4l 🧵

[CGA-IGC @CGAIGC]

📢As #PrideMonth draws to a close we are grateful for all of our LGBTQI+ pts & the dedicated professionals who help care for them.

➡️@spaulliver from @UChicago provides an excellent tutorial on care & communication for LGBTQI+ pts that can be seen here👉🔗https://t.co/38hKYtUEIi

[Genetics Nerd, CGC @CatsAndGenetics]

@nkrberman @ao_genetics May have some info on Puerto Rico!

[CGA-IGC @CGAIGC]

🙏to all authors incl many #CGAIGC cttee members for their hard work in putting together this commentary
👉https://t.co/KoqSaGZs9G

➡️Recommendations for #cancersurveillance, risk-⏬strategies, & #geneticcounseling considerations for TGD pt w/ #LynchSyndrome

#HereditaryGICancer

[Let's Win Pancreatic Cancer 💜 @letswinpc]

Dr. Vinod Balachandran provides the latest data on the mRNA pancreatic cancer vaccine, now headed to a phase II clinical trial. https://t.co/YEVrjRjysh