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Now it's time to talk about my favorite topic. Expanded Carrier Screening. E05. Let's go #NSGC20
Both Katie & Blair highlight that ethnicity based carrier screening is not adequate and that's something that isn't even up for debate. #NSGC20 #ECSDebate
Also if you want links to most of the papers that @katiesagaser presented on during the #ECSDebate than here you go:
Clinical Utility: https://go.nature.com/2KlS9h1
Cost-Effectiveness: https://go.nature.com/39jjNWH
Severity Categorization: https://bit.ly/2URKN6U
Clinical Utility: https://go.nature.com/2KlS9h1
Cost-Effectiveness: https://go.nature.com/39jjNWH
Severity Categorization: https://bit.ly/2URKN6U
Ridiculousness at the 1 in 100 carrier frequency: https://go.nature.com/35SlwQh
Limitations of self-reported ancestry: https://www.nature.com/articles/s41436-020-0869-3
#NSGC20 #ECSDebate
Limitations of self-reported ancestry: https://www.nature.com/articles/s41436-020-0869-3
#NSGC20 #ECSDebate
Also there is a paper that is currently under review that shows how our Tandem Reflex screening solution helps increase partner testing compliance to 98% so that you CAN increase the utility of expanded carrier screening. #NSGC20 #ECSDebate
And honestly I think we can ALL agree that we need better guidelines that actually help provide equity in care across ethnicities across all labs. As it stands, the current guidelines are super unclear & can be interpreted in different way. #NSGC20 #ECSDebate
Our medical societies should ALL work together and put out ONE guideline update on what people should be doing. We don't need 5 separate guideline statements from 5 different societies saying 5 different things. #NSGC20 #ECSDebate
Also can we go back to not "trusting" an industry GC to do appropriate pre-test counseling? Really? After the discussion that we had on Friday? We are ALL genetic counselors. #NSGC20 #ECSDebate
And the things is, I'm for offering ECS to ALL patients. I don't think that all patients have to say yes. But I would like the option to say yes or no to something. I don't want someone else to make that decision for me. #NSGC20 #ECSDebate
Because they way that our healthcare system is set up, we KNOW that providers make ASSUMPTIONS about patients based on race, SES, etc. You won't know what. a patient wants unless you ASK them. #NSGC20 #ECSDebate
We need to get away from the paternalism that exists in the way that we provide healthcare. #NSGC20 #ECSDebate
We are genetic counselors because we are here to help patients un-complicate the "complicated". We are TRANSLATORS to improve ACCESS & EMPOWER patients & families. Not to hold back information from them. #NSGC20 #ECSDebate
From the chat: We have to remember the benefits of carrier testing, even without partner follow up or diagnostic testing in pregnancy: other informed family members (siblings, etc), parental psychological preparation, (cont'd) #NSGC20 #ECSDebate
(cont'd) documentation in the medical record that can shorted time to diagnosis after delivery, general awareness of genetic conditions. We can't define "success" or "value" by tests that result in diagnostic testing or even partner testing. #NSGC20 #ECSDebate
Another great comment in the chat: "Part of me feels like the financial problems should be dealt with through increasing access to affordable healthcare, not necessarily changing what we offer to patients" <- YES. THIS #NSGC20 #ECSDebate
From @srod0587 in the chat: The bottom line of this for me is this: BIPOC pay taxes too. Why do we have to get sub par care? #ECSDebate #NSGC20
