Table.
Genomic sequencing results reported for the first ten generally healthy participants in the MedSeq Project.
| Section of Genome Report | Results | |||
|---|---|---|---|---|
|
| ||||
| Monogenic disease risk | 3 variants identified in 3 patients | |||
|
| ||||
| Gene | Disease | Classification | ||
| LHX4 | Combined pituitary hormone deficiency | Pathogenic | ||
| KCNQ1 | Romano-Ward syndrome (a long QT syndrome) | Likely pathogenic | ||
| ARSE | Chondrodysplasia punctata | VUS: Favor pathogenic | ||
|
| ||||
| Carrier risk | 22 variants identified in 10 patients | |||
|
| ||||
| Gene | Disease | Classification | ||
| MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | Pathogenic | ||
| CFTR | Cystic fibrosis | Pathogenic | ||
| PFKM | Glycogen storage disease 7 | Pathogenic | ||
| CUBN | Imerslund-Gräsbeck syndrome | Pathogenic | ||
| DUOX2 | Hypothyroidism | Pathogenic | ||
| ABCA4 | Stargardt disease | Pathogenic | ||
| MPO | Myeloperoxidase deficiency | Pathogenic | ||
| BTD | Biotinidase deficiency | Pathogenic | ||
| PYGL | Glycogen storage disease 6 | Pathogenic | ||
| SPG7 | Spastic paraplegia type 7 | Pathogenic | ||
| WFS1 | Wolfram syndrome | Pathogenic | ||
| CLRN1 | Usher syndrome type III | Pathogenic | ||
| CYP1B1 | Primary congenital glaucoma | Pathogenic | ||
| NLRP7 | Recurrent hydatidiform mole | Pathogenic | ||
| SPATA7 | Leber congenital amaurosis | Likely pathogenic | ||
| ERCC5 | Xeroderma pigmentosum | Likely pathogenic | ||
| COL7A 1 | Epidermolysis bullosa dystrophica | Likely pathogenic | ||
| KCNQ1 | Jervell and Lange-Nielsen syndrome | Likely pathogenic | ||
| NAGA | Alpha-N-acetylgalactosidaminidase deficiency | Likely pathogenic | ||
| SP110 | Hepatic veno-occlusive disease with immunodeficiency | Likely pathogenic | ||
| RAB27A | Familial hemophagocytic lymphohistiocytosis | VUS: Favor pathogenic | ||
| CNGA3 | Achromatopsia | VUS: Favor pathogenic | ||
|
| ||||
| Pharmacogenomics | ||||
|
| ||||
| Warfarin |
2 patients with
decreased predicted dose requirement 3 patients with increased predicted dose requirement |
|||
|
| ||||
| Clopidogrel | 2 patients with increased predicted anti-platelet response | |||
|
| ||||
| Digoxin |
4 patients with
increased predicted serum drug
concentration 1 patient with decreased predicted serum drug concentration |
|||
|
| ||||
| Metformin | 5 patients with decreased predicted glycemic response | |||
|
| ||||
| Simvastatin | 2 patients with increased risk of medication-related myopathy | |||
|
| ||||
| Blood groups | 3 patients predicted to be desirable platelet donors | |||
VUS: Variant of uncertain significance.