Table 3:

Examples of management changes after diagnosis for studies of undiagnosed patients unselected for a specific phenotype published in 2014–2018

Study PMID	First author	Year	Age group	Management changes
30304647	Splinter K	2018	pediatric and adult	21% (28/132) change in therapy, 37% (49/132) change in care other than therapy, 36% (48/132) variant-specific genetic counseling
28496993	Bick D	2017	pediatric	75% (6/8) impact on medical management or surveillance, 4 changes in medication, 6 medical surveillance
26633542	Retterer K	2016	pediatric and adult	5 reported with suggested intervention or treatment
26938784	Stark Z	2016	0–2 years	33% (15/46) clinical management changed (3 additional treatment started, 5 treatments stopped or modified)
28567303	Stavropoulos D	2016	<1 month – 18 years	94% (32/34) change in clinical management
30266093	Normand E	2018	prenatal	4 medical management changes, 15 reproductive planning, 10 recurrence risk of 19 cases with information
28973083	Meng L	2017	infants (<100 days)	52 infants affected medical management