2:00 “Nobody saw the big picture until we had the FISH test.”
6:15 Once they started looking, new data brought estimates of 22Q11 DS incidence from 1/4000 to nearly 1/1000.
10:30 Avoiding the diagnostic odyssey. Donna tells the story of two physician parents whose child saw 27 sub-specialists before the age of 5. “And it made all the difference in the world to have the diagnosis.”
21:45 The road to personalized medicine is... bumpy. Donna takes issue with a Washington Post feature from 2021 claiming a medication was uniquely effective for psychosis caused by 22q11DS. “The entire 22q community wrote to the Washington Post to complain about that and nothing was published...”
23:55 Donna responds to the NY Times article critiquing NIPT for microdeletion syndromes: It may not be the perfect test, but “for us, for every child who comes to attention vis a vis this route, we’re happy they came to attention.”
39:00 Donna makes the case for including 22Q on newborn screening.
45:00 On living with 22Q
22Q11 Deletion Syndrome – the most common version of a rare thing, affecting close to 1 in 1000 births – is no picnic for genetic counselors. Presentation is complex and unpredictable and can include structural, developmental, and behavioral manifestations. The history of 22Q is a mirror of genomic medicine, with diagnosis by phenotype giving way to diagnosis by genotype, and in the process expanding our definition of “affected.” Donna McDonald-McGinn, who has been working with families dealing with 22Q11 Deletion Syndrome at the Children’s Hospital of Philadelphia for over 2 decades, is on a first-name basis with much of that history, and comes on the Beagle today to share her enthusiasm for working with this special community, and discuss the arguments for adding 22Q to the current Newborn Screening panel – and what the recent New York Times article on microdeletion testing in the prenatal phase got wrong.