Table 3.
Participant selections for exclusions of eMERGEseq panel results.
| eMERGE consensus list | Number (%) of participants who chose to exclude eMERGE consensus conditions |
|||||
|---|---|---|---|---|---|---|
| Disease | CCHMCa,b N = 163 |
CCHMCc N = 19 |
CHOP N = 350 |
CUa N = 325 |
MC N = 3035 |
NU N = 772 |
| Hereditary breast and ovarian cancer syndrome | 15 (9.2%) | NR | 0 (NA) | 29 (8.9%) | 54 (1.8%) | NR |
| Li–Fraumeni syndrome | 22 (13.5%) | 1 (5.3%) | 0 (NA) | 32 (9.8%) | 54 (1.8%) | NR |
| Peutz–Jeghers syndrome | 22 (13.5%) | 1 (5.3%) | 0 (NA) | 28 (8.6%) | 54 (1.8%) | NR |
| Lynch syndrome | 15 (9.2%) | NR | 0 (NA) | 28 (8.6%) | NR | NR |
| Familial adenomatous polyposis | 2 (1.2%) | 1 (5.3%) | 0 (NA) | 28 (8.6%) | 54 (1.8%) | NR |
| Juvenile polyposis | 2 (1.2%) | NR | 0 (NA) | 30 (9.2%) | 54 (1.8%) | NR |
| MYH-associated polyposis | 2 (1.2%) | 1 (5.3%) | 0 (NA) | 28 (8.6%) | 54 (1.8%) | NR |
| Von Hippel–Lindau syndrome | 22 (13.5%) | 1 (5.3%) | 0 (NA) | 26 (8.0%) | 54 (1.8%) | NR |
| Multiple endocrine neoplasia type 1 | 22 (13.5%) | 1 (5.3%) | 0 (NA) | 25 (7.7%) | 54 (1.8%) | NR |
| Multiple endocrine neoplasia type 2 | 2 (1.2%) | 1 (5.3%) | 0 (NA) | 25 (7.7%) | 54 (1.8%) | NR |
| Familial medullary thyroid cancer | 2 (1.2%) | 1 (5.3%) | 0 (NA) | 25 (7.7%) | 54 (1.8%) | NR |
| PTEN hamartoma tumor syndrome | 22 (13.5%) | 1 (5.3%) | 0 (NA) | 29 (8.9%) | 54 (1.8%) | NR |
| Hereditary paraganglioma–pheochromocytoma syndrome | 22 (13.5%) | 1 (5.3%) | 0 (NA) | 26 (8.0%) | 54 (1.8%) | NR |
| Tuberous sclerosis complex | 22 (13.5%) | 1 (5.3%) | 0 (NA) | 26 (8.0%) | 54 (1.8%) | NR |
| WT1-related Wilms tumor | 22 (13.5%) | 1 (5.3%) | 0 (NA) | 32 (9.8%) | 54 (1.8%) | NR |
| Neurofibromatosis type 2 | 22 (13.5%) | 1 (5.3%) | 0 (NA) | 26 (8.0%) | 54 (1.8%) | NR |
| Ehlers–Danlos syndrome, vascular type | 22 (13.5%) | 0 (NA) | 0 (NA) | 30 (9.2%) | 54 (1.8%) | NR |
| Marfan syndrome, Loeys–Dietz syndrome, and familial thoracic aortic aneurysms and dissections | 22 (13.5%) | 0 (NA) | 0 (NA) | 30 (9.2%) | 54 (1.8%) | NR |
| Hypertrophic cardiomyopathy, dilated cardiomyopathy | 2 (1.2%) | 0 (NA) | 0 (NA) | 29 (8.9%) | 54 (1.8%) | NR |
| Fabry disease | 22 (13.5%) | 0 (NA) | 0 (NA) | 37 (11.3%) | 54 (1.8%) | NR |
| Catecholaminergic polymorphic ventricular tachycardia | 2 (1.2%) | 0 (NA) | 0 (NA) | 29 (8.9%) | 54 (1.8%) | NR |
| Arrhythmogenic right-ventricular cardiomyopathy | 2 (1.2%) | 0 (NA) | 0 (NA) | 29 (8.9%) | 54 (1.8%) | NR |
| Romano–Ward long QT types 1, 2, and 3, Brugada syndrome | 2 (1.2%) | 0 (NA) | 0 (NA) | 29 (8.9%) | 54 (1.8%) | NR |
| Familial hypercholesterolemia | 2 (1.2%) | 0 (NA) | 0 (NA) | 28 (8.6%) | NR | NR |
| Malignant hyperthermia susceptibility | 2 (1.2%) | 0 (NA) | 0 (NA) | 25 (7.7%) | 54 (1.8%) | NR |
| Ornithine transcarbamylase deficiency | 2 (1.2%) | NR | 0 (NA) | 32 (9.8%) | 54 (1.8%) | NC |
| Breast cancer susceptibility | 15 (9.2%) | NR | 0 (NA) | 29 (8.9%) | 54 (1.8%) | 7 (0.9%) |
| Colorectal cancer susceptibility | 15 (9.2%) | NR | 0 (NA) | 28 (8.6%) | 54 (1.8%) | 7 (0.9%) |
| Long QT syndrome | 2 (1.2%) | NR | 0 (NA) | 29 (8.9%) | 54 (1.8%) | 3 (0.4%) |
| Andersen–Tawil syndrome | 2 (1.2%) | NR | 0 (NA) | 29 (8.9%) | 54 (1.8%) | 3 (0.4%) |
| Maturity onset diabetes of the young | 2 (1.2%) | NR | 0 (NA) | 28 (8.6%) | 54 (1.8%) | 3 (0.4%) |
| Maturity onset diabetes of the young | 2 (1.2%) | NR | NR | 28 (8.6%) | 54 (1.8%) | 3 (0.4%) |
| Ehlers–Danlos syndrome, classic type | 22 (13.5%) | NR | 0 (NA) | 30 (9.2%) | 54 (1.8%) | 3 (0.4%) |
| Factor V Leiden | 2 (1.2%) | NR | NR | NR | 54 (1.8%) | 3 (0.4%) |
| Bloom syndrome | 22 (13.5%) | NR | NR | NR | 54 (1.8%) | 27 (3.5%) |
| 21-Hydroxylase-deficient congenital adrenal hyperplasia | 22 (13.5%) | NR | NR | NR | 54 (1.8%) | 3 (0.4%) |
| Familial Mediterranean fever | 2 (1.2%) | NR | NR | NR | 54 (1.8%) | 3 (0.4%) |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 (1.2%) | NR | NR | NR | 54 (1.8%) | 3 (0.4%) |
| Hereditary fructose intolerance | 2 (1.2%) | NR | NR | NR | 54 (1.8%) | 3 (0.4%) |
| Maple syrup urine disease | 2 (1.2%) | NR | NR | NR | 54 (1.8%) | 26 (3.4%) |
| Tyrosinemia type 1 | 2 (1.2%) | NR | NR | NR | 54 (1.8%) | 3 (0.4%) |
| Glycogen storage disease type 1 | 2 (1.2%) | NR | NR | NR | 54 (1.8%) | 3 (0.4%) |
| Carnitine palmitoyltransferase II deficiency | 2 (1.2%) | NR | NR | NR | 54 (1.8%) | 3 (0.4%) |
| Hereditary hemochromatosis | 2 (1.2%) | NR | 0 (NA) | NR | 54 (1.8%) | 3 (0.4%) |
NR indicates genes not returned or choices not offered. For CHOP, adult-onset disorders, while selected, only returned to participants after consenting as an adult. CCHMC Cincinnati Children’s Hospital Medical Center, CHOP Children’s Hospital of Philadelphia, CU Columbia University, MC Mayo Clinic, NU Northwestern University.
a
Participants were allowed to make selections for individual diseases.
b
Adolescent cohort: choices reflect dyad categorical joint decision and any changes made within 2 week period when choices could be changed.
c
Biobank cohort: choices made by parents.