Table 1. Participant Characteristics and Genetics Visit Completion Rates.
| Patients, No. (%) | ||
|---|---|---|
| Variable | Total | Completed genetics visit |
| Study sample | 1160 | 551 (47.5) |
| Age at disclosure, y | ||
| 18-40 | 259 (22.3) | 138 (53.3) |
| 41-65 | 524 (45.2) | 256 (48.9) |
| 66-80 | 294 (25.3) | 140 (47.6) |
| ≥81 | 83 (7.2) | 17 (20.5) |
| Sex | ||
| Female | 703 (60.6) | 361 (51.4) |
| Male | 457 (39.4) | 190 (41.6) |
| Race | ||
| Asian, Black or African American, Native Hawaiian or other Pacific Islander, or unknowna | 28 (2.4) | 14 (50.0) |
| White | 1132 (97.6) | 537 (47.4) |
| Marital status | ||
| Divorced/separated | 148 (12.8) | 71 (48.0) |
| Married/significant other | 666 (57.4) | 346 (52.0) |
| Single | 236 (20.3) | 98 (41.5) |
| Widowed | 109 (9.4) | 36 (33.0) |
| Missing | 1 (0.1) | 0 |
| Employment status | ||
| Working | 479 (41.3) | 260 (54.3) |
| Not working | 290 (25.0) | 128 (44.1) |
| Retired | 390 (33.6) | 163 (41.8) |
| Missing | 1 (0.1) | 0 |
| Charlson comorbidity index | ||
| 0-2 | 590 (50.9) | 306 (51.9) |
| 3-4 | 255 (22.0) | 131 (51.4) |
| ≥5 | 315 (27.2) | 114 (36.2) |
| Primary care practitioner status | ||
| Internal | 870 (75.0) | 428 (49.2) |
| External | 290 (25.0) | 123 (42.4) |
| Patient portal user | ||
| No | 353 (30.4) | 136 (38.5) |
| Yes | 807 (69.6) | 415 (51.4) |
| Gene category | ||
| Cancer riskb | 572 (49.3) | 289 (50.5) |
| Cardiovascular disease riskc | 504 (43.4) | 230 (45.6) |
| Other disease riskd | 84 (7.2) | 32 (38.1) |
| Disclosure staff type | ||
| Genetic counselor | 439 (37.8) | 217 (49.4) |
| Research assistant | 595 (51.3) | 326 (54.8) |
| Not disclosed | 126 (10.9) | 8 (6.3) |
| Distance to genetics clinic in miles | ||
| 0-8.9 | 294 (25.3) | 154 (52.4) |
| 8.9-13.3 | 312 (26.9) | 151 (48.4) |
| 13.3-20.1 | 278 (24.0) | 128 (46.0) |
| >20.1 | 276 (23.8) | 118 (42.8) |
| Follow-up time, y | ||
| <2 | 398 (34.3) | 167 (42.0) |
| 2-3 | 289 (24.9) | 141 (48.8) |
| 3-4 | 240 (20.7) | 119 (49.6) |
| 4-5 | 160 (13.8) | 86 (53.8) |
| >5 | 73 (6.3) | 38 (52.1) |
Asian (n = 5), Black or African American (n = 20), Native Hawaiian or other Pacific islander (n = 2), unknown (n = 1). These racial categories were grouped together due to small numbers in each individual category.
Hereditary breast or ovarian cancer syndrome (BRCA1, BRCA2 genes), Lynch syndrome (MLH1, MSH2, MSH6, PMS2 genes), multiple endocrine neoplasia type 1 (MEN1 gene), multiple endocrine neoplasia type 2 (RET gene), hereditary paraganglioma-pheochromocytoma syndrome (SDHAF2, SDHB, SDHC, SDHD genes), von Hippel-Lindau syndrome (VHL gene), familial adenomatous polyposis (APC gene), PTEN hamartoma tumor syndrome (PTEN gene), hereditary retinoblastoma (RB1 gene), Li-Fraumeni syndrome (TP53 gene), tuberous sclerosis complex (TSC1, TSC2 genes).
Long QT syndrome or Brugada syndrome (KCNH2, KCNQ1, KCNE1, SCN5A genes), arrhythmogenic cardiomyopathy (DSC2, DSG2, DSP, PKP2 genes), dilated or hypertrophic cardiomyopathy (LMNA, MYBPC3, MYH7, MYL2, TNNI3, TNNT2, TPM1 genes), Fabry disease (GLA gene), familial hypercholesterolemia (LDLR, APOB genes), hereditary thoracic aortic disease (ACTA2 gene), Marfan syndrome (FBN1 gene), Loeys-Dietz syndrome (SMAD3, TGFBR1 genes), vascular Ehlers-Danlos syndrome (COL3A1 gene), hereditary hemorrhagic telangiectasia (ENG gene).
Malignant hyperthermia susceptibility (RYR1 gene), dual result (BRCA1 + LDLR, LMNA + SCN5A, BRCA2 + LDLR, ACTA2 + BRCA1, APOB + BRCA2, BRCA2 + DSP, BRCA2 + PKP2).