Table 2 Demographics of Geisinger MyCode participants with an ETS result identified between June 2016 and October 2019 (n=80) by gene and compared to remaining MyCode cohort with reviewed exome sequencing
Demographic | MEN1 (n=6) | RET (n=40) | SDHx (n= 32) | VHL (n=2) | Any variant associated with an endocrine tumor syndromea (n=80) | Remaining MyCode with reviewed exome sequencingb (n=86,493) | p-value |
|---|---|---|---|---|---|---|---|
Median age (IQR) | |||||||
 Age at initial chart review/withdrawal | 46.3 (46.3–55.7) | 62.1 (41.5–72.5) | 56.5 (46.9–68.1) | 49.1 (52.0–54.9) | 58.4 (42.1–70.2) | 61.9 (47.3–73.1) | p=0.07 |
 Age at result return | 43.2 (42.0–52.1) | 60.6 (40.9–71.1) | 55.8 (45.2–66.0) | 47.6 (50.8–53.9) | 56.8 (41.4–68.0) | N/A | |
Sex | |||||||
 Male | 16.7% (1) | 47.5% (19) | 21.9% (7) | 50.0% (1) | 35.0% (28) | 38.6% (33379) | p=0.80 |
 Female | 83.3% (5) | 52.5% (21) | 78.1% (25) | 50.0% (1) | 65.0% (52) | 61.4% (53109) | |
 Unknown | – | – | – | – | – | 0.0% (5) | |
Race | |||||||
 White | 100% (6) | 100% (40) | 96.9% (31) | 100% (2) | 98.7% (79) | 97.6% (84387) | p=0.49 |
 Black/African American | – | – | 3.1% (1) | – | 1.3% (1) | 1.7% (1450) | |
 American Indian/Alaska Native | – | – | – | – | – | 0.1% (109) | |
 Asian | – | – | – | – | – | 0.3% (271) | |
 Native Hawaiian/Other Pacific Islander | – | – | – | – | – | 0.1% (116) | |
 Unknown | – | – | – | – | – | 0.2% (160) | |
Ethnicity | |||||||
 Not Hispanic or Latino | 100% (6) | 100% (40) | 96.9% (31) | 100% (2) | 98.7% (79) | 97.1% (83954) | p=0.80 |
 Hispanic or Latino | – | – | 3.1% (1) | – | 1.3% (1) | 1.7% (1480) | |
 Unknown | – | – | – | – | – | 1.3% (1059) | |
Alive at initial data pull | 100% (6) | 95.0% (38) | 93.8% (30) | 100% (2) | 95% (76) | 89.3% (77248) | p=0.10 |
Smoking status | |||||||
 Current smoker | 16.7% (1) | 30.0% (12) | 9.4% (3) | – | 20.0% (16) | 16.4% (14212) | p=0.39 |
 Former smoker | 33.3% (2) | 35.0% (14) | 40.6% (13) | 50.0% (1) | 37.5% (30) | 35.9% (31083) | |
 Never smoker | 50.0% (3) | 35.0% (14) | 50.0% (16) | 50.0% (1) | 42.5% (34) | 47.3% (40916) | |
 Unknown | – | – | – | – | – | 0.3% (282) | |
Time since results return (years; IQR) | 3.1 (2.9–3.5) | 0.7 (0.6–2.9) | 1.7 (0.7–2.7) | 1.4 (0.8–1.9) | 1.9 (0.6–2.9) | N/A | N/A |
Variant previously detected | |||||||
 Yes | 50% (3) | 22.5% (9) | 3.1% (1) | – | 16.3% (13) | N/A | N/A |
 No, but clinical diagnosis | 16.7% (1) | – | – | 50% (1) | 2.5% (2) | N/A | |
 No | 33% (2) | 77.5% (31) | 96.9% (31) | 50% (1) | 81.3% (65) | N/A | |
Number of families | |||||||
 Total | 4 | 23 | 31 | 2 | 60 | N/A | N/A |
  Previously clinically ascertained | 3 | 4 | 0 | 1 | 8 | N/A | |