Table 2 Uptake of clinical recommendations for patient and/or family members by germline genetic testing result.
PGV (n = 55) | VUS-only (n = 221) | Negative (n = 218) | ||||
|---|---|---|---|---|---|---|
Patient recs | Clinician recs | Patient uptake | Clinician recs | Patient uptake | Clinician recs | Patient uptake |
Treatment change | 7/55 (12.7%) | 4/7 (57.1%) | 7/221 (3.2%) | 0/7 (0%) | NRa | - |
Follow-up change | 31/55 (56.4%) | 2/31 (6.5%) | 51/221 (23.1%) | 5/51 (9.8%) | 3/218 (1.4%) | 1/3 (33.3%) |
Meet with a genetic counselor | 17/55 (30.9%) | 7/17 (41.2%) | 36/221 (16.3%) | 12/36 (33.3%) | 1/218 (0.5%) | 0/1 (0%) |
Meet with a clinical specialist | 5/55 (9.1%) | 1/5 (20%) | NRa | - | NRa | - |
Other | 2/55 (3.6%) | 1/2 (50.0%) | NRa | - | 1/7 (14.3%) | 1/1 (100%) |
Family member recs | Clinician recs | Patient uptake | Clinician recs | Patient uptake | Clinician recs | Patient uptake |
Undergo genetic testing | 36/55 (65.5%) | 19/36 (52.8%) | 29/221 (13.1%) | 7/29 (24.1%) | 5/218 (2.3%) | 0/5 (0%) |
Meet with a genetic counselor | 34/55 (61.8%) | 2/34 (5.9%) | 25/221 (11.3%) | 3/25 (12.0%) | 2/218 (0.9%) | 0/2 (0%) |
Combined recs | Clinician recs | Patient uptake | Clinician recs | Patient uptake | Clinician recs | Patient uptake |
>1 patient rec | 31/55 (56.4%) | 19/31 (61.3%) | 53/221 (24.0%) | 36/53 (67.9%) | 3/218 (1.4%) | 1/3 (33.3%) |
>1 family rec | 37/55 (67.3%) | 20/37 (54.1%) | 34/221 (15.4%) | 8/34 (23.5%) | 5/218 (2.3%) | 0/5 (0%) |
>1 patient or family rec | 42/55 (76.4%) | 39/42 (92.9%) | 61/221 (27.6%) | 48/61 (78.7%) | 7/218 (3.2%) | 3/7 (42.9%) |
No further recs | Clinician recs | Patient uptake | Clinician recs | Patient uptake | Clinician recs | Patient uptake |
No further patient recs | 18/55 (32.7%) | 6/18 (27.8%) | 168/221 (76.0%) | 70/168 (41.7%) | 215/218 (98.6%) | 96/215 (44.7%) |
No further patient or family recs | 12/55 (21.8%) | 6/12 (50.0%) | 160/221 (72.4%) | 64/160 (40.0%) | 211/218 (96.8%) | 94/211 (44.5%) |
