Clinical utility of genomic investigations in a Middle Eastern pediatric gastroenterology disease cohort

Table 3 Patient-specific clinical diagnoses and impact on medical management

ID	Clinical diagnosis	Clinical implication
6	Wiskott-Aldrich syndrome or related phenotypes	Nil
14	X-linked chronic granulomatous disease	Requires BMT; no response to conventional therapy
15	X-linked chronic granulomatous disease	Requires BMT; no response to conventional therapy
16	Combined immunodeficiency with multiple intestinal atresias	Initiated leflunomide, counseled on immunodeficiency risk
17	Mitochondrial DNA depletion syndrome	Liver transplant referral; neurology referral; prenatal screening recommended
19	Trisomy 18	Liver transplant not pursued
20	Crigler-Najjar (and Gilbert syndrome)	Intensive phototherapy; phenobarbital; transplant counseling; potential gene therapy
21	Gilbert syndrome	Avoidance of further testing
23	PFIC 1	UDCA, IBAT inhibitor; hearing test; anticipate cirrhosis and possible liver transplant
24	Crigler-Najjar	Intensive phototherapy; phenobarbital; transplant counseling; potential gene therapy
25	Alagille syndrome	Screening for associated disorders: Cardiac, ocular, vascular, and renal
26	Alagille syndrome	Screening for associated disorders: Cardiac, ocular, vascular, and renal
27	PFIC 3	UDCA, IBAT inhibitor; slower disease progression
28	PFIC 3/autosomal recessive nonsyndromic hearing loss/glucose-6-phosphate dehydrogenase deficiency	UDCA, IBAT inhibitor; slower disease progression; counseling on post–liver transplant recurrence; G6PD precautions; hearing test; ENT referral
34	Congenital bile acid synthesis defect	Bile acid replacement therapy; liver transplant considered
35	Gilbert syndrome	Avoidance of further testing
37	Gilbert syndrome	Avoidance of further testing
38	Gilbert syndrome	Avoidance of further testing
40	Alagille syndrome	IBAT inhibitor, screening for associated disorders: Cardiac, ocular, vascular, and renal
43	Hereditary pancreatitis	Annual pancreatic cancer screening; regular monitoring of exocrine/endocrine function
44	Chronic pancreatitis	Regular monitoring of exocrine/endocrine function
45	TE, hyperphenylalaninemia, familial cold autoinflammatory syndrome	Family counseling for future pregnancies; MVT not favored as symptoms may improve
48	MVID	Family counseling for future pregnancies; renal screening; MVT likely as symptoms unlikely to improve; lifelong TPN anticipated
49	TE	Family counseling for future pregnancies; MVT not favored as symptoms may improve
50	MVID	Family counseling for future pregnancies; renal screening; MVT likely as symptoms unlikely to improve; lifelong TPN anticipated
51	Trichohepatoenteric syndrome	Screening for hypogammaglobulinemia, screening for liver disease
52	MVID	Family counseling for future pregnancies; renal screening; MVT likely as symptoms unlikely to improve; lifelong TPN anticipated
53	Trichohepatoneurodevelopmental syndrome	Screening for developmental delay, screening for liver disease
56	Congenital chloride diarrhea	Chloride supplementation
57	Recurrent respiratory infections and failure to thrive with or without diarrhea	Family counseling for future pregnancies
58	MVID	Family counseling for future pregnancies; renal screening; MVT likely as symptoms unlikely to improve; lifelong TPN anticipated
59	Congenital diarrheal disorder due to DGAT1 deficiency	Family counseling for future pregnancies; considering MVT
61	Cystic fibrosis	Annual screening for pancreatic insufficiency, started Trikafta
63	Autosomal recessive TRK 1 positive congenital insensitivity to pain with anhydrosis	Antipyretics and cooling measures; trauma precautions due to absent pain; screen for immunoglobulin deficiency
64	Immunodeficiency	Screening for immunodeficiency
65	BRAF gene related disorders (cardiofaciocutaneous syndrome, Noonan syndrome and LEOPARD syndrome)	Family counseling regarding high risk of developing tumors, referral to cardiology, started Growth hormone
68	Peutz-Jeghers syndrome	Regular endoscopic screening; genetic testing for first-degree relatives
69	Peutz-Jeghers syndrome	Regular endoscopic screening; genetic testing for first-degree relatives

TE: Tufting enteropathy; BMT: Bone marrow transplant; UDCA: Ursodeoxycholic acid; IBAT: Ileal bile acid transporter; MVT: Multi-visceral transplant; TPN: Total parenteral nutrition; PFIC: Progressive familial intrahepatic cholestasis; ENT: Ear, nose, throat; MVID: Microvillous inclusion disease.