Table 2.
Most commonly disclosed genes for carrier status per CSER projecta
| Gene (condition) | Number of projects that list gene among the three most commonly disclosed | Number of projects that would disclose | Disease prevalence |
|---|---|---|---|
| HFE (HFE‐associated hereditary hemochromatosis) | 5 | 7 | 1/200–1/400 |
| GJB2 (nonsyndromic hearing loss) | 5 | 9 | 1/7,000 |
| CFTR (cystic fibrosis) | 4 | 11 | 1/3,200 (Northern European Ancestry) |
| BTD (biotinidase deficiency) | 4 | 8 | 1/60,000 |
| SERPINA1 (alpha‐1 antitrypsin deficiency) | 4 | 8 | 1/50,00–1/7,000 |
| HBB (sickle cell disease) | 2 | 11 | 1/300–1/500 (African American Ancestry) |
a
Genes reported by only one of the 11 CSER projects as most frequently disclosed include HEXA, ABCA4, CYP21A2, MUTYH, LRTOMT, F11, IDUA, ACADM, CD36, DUOX2, OTOF, ABCC6, C2, SACS, and SMPD1.