S Toomey

Medical Science Liaison
Thoughts and Opinions are my own.

[PacBio @PacBio]

PacBio and @AmbryGenetics are thrilled to announce our selection by @UCIrvine and the @GREGoR_research to support the Pediatric Mendelian Genomics Research Center (MGRC) program to better understand the underlying biology of rare diseases.

Details 👉 https://t.co/gaLOB5FfaD

[Rare Diseases @CheckOrphan]

Ambry Genetics and PacBio Announce Collaboration to Sequence Up to 7,000 Human Genomes Aimed at Providing Answers for Families Battling Rare Diseases - please check the link for more https://t.co/xV3UVZYPct @AmbryGenetics @PacBio #RareDiseases #HumanGenome

[Carrie Horton @carrieotype]

So pleased to highlight important work that combined clinical acumen and lab expertise to find a life-saving answer for this family with a history of diffuse gastric cancer. #genechat #hereditarycancer #RNA

https://t.co/OyLyS5yTl9

[S Toomey @SToomey12]

Paired DNA and RNA testing impacts 1000s of patients

[JAMA Oncology @JAMAOnc]

RNA sequencing provides an opportunity to more accurately identify individuals with hereditary cancer susceptibility by increasing detection and improving classification of disease-causing variants in cancer susceptibility genes.

https://t.co/cIFF2XpCOM

#ASHG23

[Ambry Genetics @AmbryGenetics]

Ambry Genetics, a subsidiary of REALM IDx, Inc., unveiled results of a recent study that assessed the impact of paired DNA and RNA testing on detecting disease-causing germline genetic variants. @JAMAOnc; @carrieotype; @rachidkaram #genechat #ASHG2023 https://t.co/BENj5RcVDr

[Jessica Grzybowski @JGrzy8]

🌟 Join us at #ASHG2023 for a groundbreaking oral presentation on expanding RNA sequencing's clinical reach! 🗣️
📆 Nov 04, 2023 🕥 10:30am - 10:45am 🧬 Explore concurrent DNA and RNA testing in hereditary cancer.
https://t.co/XwHn0FWQwK #EverySinglePatient #GeneChat

[Ambry Genetics @AmbryGenetics]

Morgan Turpin shares her son Shayne’s experience undergoing exome testing and how it opened up a world of options. https://t.co/vGyJGo8nbN
You know your patients. #AmbryKnowsGenes
Partner with us to end diagnostic odysseys sooner and improve care for patients with rare diseases.

[Ambry Genetics @AmbryGenetics]

Senior Clinical Scientist Jennifer Huang, PhD, presents May's Gene of the Month, PTPN4. Read more: https://t.co/AZEmLQWeWC
You know your patients. #AmbryKnowsGenes
Partner with us to end diagnostic odysseys sooner and improve care for patients with rare diseases.

[Ambry Genetics @AmbryGenetics]

Humans have about 20,000 genes. Traditional genetic testing techniques allowed for the analysis of only one gene at a time. Exome sequencing allows for the DNA sequencing of all the exons in the genome. Learn more here. #ThrowbackThursday https://t.co/FOorRclJhP

[Ambry Genetics @AmbryGenetics]

"Variant reclassification in a large cardiogenetic testing cohort" will be presented as an oral platform March 16, 11 am-12:30 pm MT. Learn about Ambry’s experience tailoring variant classification based on disease type and view poster #P575 at #ACMGMtg23. https://t.co/C1FJqpbe6Z

[Ambry Genetics @AmbryGenetics]

A new gene discovery happens every 2 days! Ambry updates patients with our Patient for Life program. We are recognizing Rare Disease Day on February 28 by featuring a newly characterized gene each month. Join Bess Wayburn, PhD, CGC, March 2 for our first video! #AmbryKnowsGenes

[Ambry Genetics @AmbryGenetics]

REALM and Ambry lit our building for #RareDiseaseDay. Come back March 2 to meet our Gene Team and learn about the gene of the month. You know your patients. #AmbryKnowsGenes. 
Partner with us to end diagnostic odysseys sooner and improve care for patients with rare diseases.

[Ambry Genetics @AmbryGenetics]

Our GSL and MSL team has written an #AmericanHeartMonth Spotlight on sudden cardiac arrest (SCA) to answer the questions everyone is asking: What causes #SCA? Should #athletes be screened for heart disease? What role does #genetictesting play? Find out: https://t.co/z4eycFRHie

[Ambry Genetics @AmbryGenetics]

Join Ambry’s Susan Toomey, MS, and other experts for a webinar as they discuss Living with Familial Chylomicronemia Syndrome.

[Carrie Horton @carrieotype]

So exciting! Studies like this will help make the @genome_gov vision to understand all VUSs a reality. Congrats to authors! @jacobkitzman @rachidkaram @UM_Genetics #research #collaboration #LynchSyndrome

[The Foundation for Triglyceride Disorders @TGDisorders]

JOIN US January 19th at 7pm ET for a webinar on Living with FCS, Genetic Testing, and Genetic Counseling. Stay for an interactive Q&A.

REGISTER NOW: https://t.co/qOUKCVDZ58

#livingwithFCS #genetictesting

[S Toomey @SToomey12]

@EmilyMSGC Problem is some GC-MSL roles today are really clinical, educational, etc. not true KOL/MSL development type roles that pharma is hiring for.

[S Toomey @SToomey12]

@EmilyMSGC Industry job? Many pharma & biotech only hire MD, PharmD, PhD, DNP for what they consider "true" MSL jobs. Some consider NP, OP, PT if open to non-term degree. They've no idea that a GC has ALL the skills they need!

[S Toomey @SToomey12]

The AHA also detailed the recommendation for genetic testing in patients with aortic disease in their Scientific Statement 2020.
Cardiogenetics: genetic testing in the diagnosis and management of patients with aortic disease https://t.co/qvRkkPivPT

[Rare Disease Day @rarediseaseday]

Leave no one behind!💪

Show your solidarity with the 300 million people living with a rare disease 💚

Download the EQUITY TOOLKIT and discover how you could advocate 📣 for the rare disease community!

👉https://t.co/q97TUb7iMj