Table 2:
Standards of symptomatic and pre-symptomatic genetic counseling
| I. Standards of symptomatic genetic counseling for patients | ||||||
|---|---|---|---|---|---|---|
| Movement | MDS Section |
|||||
| Overall | Specialists | African N=62 | Asian/ | European N=183 | Pan-American N=179 | |
| N=568 | N=295 | Oceanic N=144 | ||||
| Regional standard of practice: who performs genetic counseling? SA | ||||||
| Geneticist (MD) | 203 (47.7%) | 121 (50.8%) | 14 (31.1%) | 39 (38.2%) | 82 (59.0%) | 68 (48.6%) |
| Neurologist | 196 (46.0%) | 123 (51.7%) | 17 (37.8%) | 51 (50.0%) | 64 (46.0%) | 64 (45.7%) |
| Genetic counselor (MS) | 121 (28.4%) | 72 (30.3%) | 14 (31.1%) | 34 (33.3%) | 32 (23.0%) | 41 (29.3%) |
| No standard | 73 (17.1%) | 45 (18.9%) | 11 (24.4%) | 11 (10.8%) | 20 (14.4%) | 31 (22.1%) |
| Genetic counselor (Non-MS) | 42 (9.9%) | 24 (10.1%) | 2 (4.4%) | 14 (13.7%) | 10 (7.2%) | 16 (11.4%) |
| None is performed | 41 (9.6%) | 15 (6.3%) | 11 (24.4%) | 11 (10.8%) | 6 (4.3%) | 13 (9.3%) |
| Refer outside | 40 (9.4%) | 19 (8.0%) | 5 (11.1%) | 7 (6.9%) | 15 (10.8%) | 13 (9.3%) |
| Other | 11 (2.6%) | 7 (2.9%) | 0 (0) | 1 (1.0%) | 3 (2.2%) | 7 (5.0%) |
| Nurse | 9 (2.1%) | 0 (0) | 1 (2.2%) | 3. (2.9%) | 3 (2.2%) | 2 (1.4%) |
|
| ||||||
| What is the availability of genetic counseling? | ||||||
| Low | 201 (47.2%) | 97 (40.8%) | 28 (62.2%) | 45 (44.1%) | 59 (42.5%) | 69 (49.3%) |
| Medium | 108 (25.4%) | 73 (30.7%) | 4 (8.9%) | 26 (25.5%) | 43 (30.9%) | 35 (25.0%) |
| High | 66 (15.5%) | 47 (19.8%) | 2 (4.4%) | 17 (16.7%) | 30 (21.6%) | 17 (12.1%) |
| None | 51 (12.0%) | 21 (8.8%) | 11 (24.4%) | 14 (13.7%) | 7 (5.0%) | 19 (13.6%) |
|
| ||||||
| Are you comfortable performing counseling? ^ | ||||||
| Yes | 226 (57.5%) | 90 (47.9%) | 15 (41.7%) | 59 (61.5%) | 73 (55.3%) | 79 (61.2%) |
| No | 167 (42.5%) | 98 (52.1%) | 21 (58.3%) | 37 (38.5%) | 59 (44.7%) | 50 (38.8%) |
|
| ||||||
| Is pre-test counseling included? | ||||||
| Yes | 251 (58.9%) | 160 (67.2%) | 20 (44.4%) | 60 (58.8%) | 85 (61.2%) | 86 (61.4%) |
| Do not know | 77 (18.1%) | 29 (12.2%) | 8 (17.8%) | 26 (25.5%) | 21 (15.1%) | 22 (15.7%) |
| No | 54 (12.7%) | 27 (11.3%) | 2 (4.4%) | 10 (9.8%) | 20 (14.4%) | 22 (15.7%) |
| No counseling offered | 44 (10.3%) | 22 (9.2%) | 15 (33.3%) | 6 (5.9%) | 13 (9.4%) | 10 (7.1%) |
|
| ||||||
| Is post-test counseling included? | ||||||
| Positive and negative results | 208 (48.8%) | 63 (26.5%) | 16 (35.6%) | 55 (53.9%) | 65 (46.8%) | 72 (51.4%) |
| Only positive results | 102 (23.9%) | 63 (26.5%) | 102 (23.9%) | 18 (17.7%) | 44 (31.7%) | 30 (21.4%) |
| Do not know | 78 (18.3%) | 26 (10.9%) | 11 (24.4%) | 23 (22.6%) | 23 (16.6%) | 21 (15.0%) |
| No | 38 (8.9%) | 22 (9.2%) | 8 (17.8%) | 6 (5.9%) | 7 (5.0%) | 17 (12.1%) |
|
| ||||||
| Who returns genetic results to patients? | ||||||
| Physician | 315 (73.9%) | 181 (76.1%) | 32 (71.1%) | 79 (77.5%) | 93 (66.9%) | 111 (79.3%) |
| Genetic counselor | 88 (20.7%) | 48 (20.2%) | 8 (17.8%) | 12 (11.8%) | 41 (29.5%) | 27 (19.3%) |
| Nurse/other staff | 23 (5.4%) | 9 (3.8%) | 5 (11.1%) | 11 (10.8%) | 5 (3.6%) | 2 (1.4%) |
|
| ||||||
| How do you report and follow through with VUS? SA^ | ||||||
| Report to patient | 218 (55.5%) | 136 (57.1%) | 13 (36.1%) | 55 (57.3%) | 72 (54.5%) | 78 (60.5%) |
| Do not perform WES/WGS | 96 (24.4%) | 56 (23.5%) | 14 (38.9%) | 21 (21.9%) | 26 (19.7%) | 35 (27.1%) |
| Do not report to patient | 59 (15.0%) | 38 (16.0%) | 5 (13.9%) | 12 (12.5%) | 30 (22.7%) | 12 (9.3%) |
| Process to revisit | 56 (14.2%) | 32 (13.4%) | 5 (13.9%) | 18 (18.8%) | 17 (12.9%) | 16 (12.4%) |
|
| ||||||
| Is genetic counseling required for PD genetic testing? | ||||||
| Yes | 236 (55.4%) | 124 (52.1%) | 26 (57.8%) | 77 (75.5%) | 75 (54.0%) | 58 (41.4%) |
| No | 111 (26.1%) | 86 (36.1%) | 7 (15.6%) | 10 (9.8%) | 39 (28.1%) | 55 (39.3%) |
| Do not know | 79 (18.5%) | 28 (11.8%) | 12 (26.7%) | 15 (14.7%) | 25 (18.0%) | 27 (19.3%) |
Regarding standards of symptomatic genetic counseling, there was no availability of counseling for 12% of participants, including in 24.4% of African, 13.7% of Asian and Oceanic, 13.6% of Pan-American, and 5% of European section participants. Among patient-facing individuals, 57.5% said they were comfortable performing genetic counseling. Results of genetic testing were most commonly returned by a physician (73.9%) or a genetic counselor (20.7%). Genetic counseling includes pre-test counseling according to 58.9% of participants and post-test counseling according to 72.7% (positive and negative results: 48.8%, positive results only: 23.9%). Pre-symptomatic genetic testing is available in 43.9% of participants’ sites overall and in 57.7% of sites among movement disorder specialists. Participants from the African (13.6%) and Asian and Oceanic (36.1%) sections were less likely to have site-access to pre-symptomatic testing compared with participants from European (51.9%) and Pan-American (52%) sections. Pre-symptomatic counseling was included with testing according to 47.1% of participants and not included according to 14% of participants. The availability of genetic counseling for pre-symptomatic testing was most likely to be considered “low” (47.2%) compared with “medium” (25.4%) or “high” (15.5%), and counseling is most likely to be performed by a neurologist (30.1%), a medical geneticist (19.1%), or a genetic counselor (21.3%). Most participants were not aware of a country-wide policy that addresses PD pre-symptomatic genetic testing (60.7%) compared with those that were aware (11.7%). ^ limited to patient facing participants.