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GAMT Public Health System Impact Assessment Educational Webinar - Shared screen with speaker view
Elizabeth Jones
18:14
Thanks for joining us for today's webinar. Please use the chatbox for questions.
APHL Staff
33:53
Attendees may submit comments and questions for presenters in the chat. We will address them during the Q and A session. Thank you!
Sondra Rosendahl
47:05
Are the false positive NICU babies newborns that are low birth weight or are they term infants who are seriously ill? Are you seeing any transfusion impacts? Thank you!
Mark Morrissey
48:33
I should pull data for this and I'll work on that. If I can share I'll forward to Jelili. It's my impression that the false positives are less dependent on birth weight than some of the other false positive disorders such as the IVA.
John Thompson
55:35
@ Kim - what was the age at collection of the second screen for the true(+) case? Do second screens have lower GUAC levels than firsts?
debra freedenberg
55:42
What percent of babies who had an out of range GAMT testing on first screen had a normal second screen for GAMT?
Mark Morrissey
58:39
Again, I don't have a percentage, but for NYS I would say most of them. Almost of our requests for repeat samples resolve as screen negative rather than a referral.
John Thompson
01:00:24
Thanks Kim!
Heidi Wallis
01:01:56
Without treatment, the GUAC will not get anywhere near the normal range despite the drop between the first and second screens. The families I know that start treatment after clinical diagnosis have had a GUAC between 9-22.
Tory Kaye
01:05:14
@Mark, did you say babies are referred after a positive second (or now first) screen, and not waiting for DNA? If so, would more than 6 babies have been referred? Or did I miss understand something? Thanks!
Denise Kay
01:07:22
Hi Tory, We refer regardless of whether or not variants are detected. In 2021, we tested 6 by DNA and all were referred. There were no additional referrals.
Mark Morrissey
01:08:20
The decision is on the second tier screen (now first tier) and the DNA is supplemental. So the six referrals are six samples over the cut-off of 5 for GUAC and 12 for GUAC*1000/Cre. Waiting for the DNA is somewhat situational. For a normal baby with no NICU we might wait the extra day to have the DNA data. For a NICU baby we generally make the call right away so the Doc's can have our information, even if it is not GAMT deficiency.
Tory Kaye
01:09:57
Got it! Thanks
Tiasha Letostak
01:15:53
ACHDNC meeting info: https://www.hrsa.gov/advisory-committees/heritable-disorders/index.html
Elizabeth Jones
01:16:23
Thanks for joining us. We look forward to receiving your PHSI survey.
Sikha Singh
01:16:37
https://www.newsteps.org/resources/webinars-events
Ruthanne Sheller
01:16:55
https://aphl.wliinc23.com//events/New-Disorders-Workgroup-Winter-Webinar-Series-Part-One-Newborn-Screening-Considerations-for-Additional-Lysosomal-Disorders-and-GAMT-588-601-21--1138/details
Sikha Singh
01:17:01
https://www.newsteps.org/resources/webinars-events/new-disorders-workgroup-winter-webinar-series-part-one-newborn-screening
APHL Staff
01:17:22
Thank you Sikha and Ruthanne!