Table 1: Survey Demographics, Testing Practice and Barriers:
Table 1A: Survey Response Characteristics and 1B: Regional and practice-specific genetic testing; 1C: Barriers to knowledge of genetic testing
| 1A: Survey respondent demographics | Overall N=568 | Movement Specialists N=295 | MDS Section |
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| African N=62 | Asian/Oceanic N=144 | European N=183 | Pan-American N=179 | |||
| Responses, % of respondents | 51.9% | 10.9% | 25.4% | 32.2% | 31.5% | |
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| Gender, N (%) | ||||||
| Women | 264 (46.5%) | 141 (47.8%) | 28 (45.2%) | 60 (41.7%) | 87 (47.5%) | 89 (49.7%) |
| Men | 303 (53.4%) | 153 (51.9%) | 34 (54.8%) | 83 (57.6%) | 96 (52.5%) | 90 (50.3%) |
| Non-binary/diverse | 1 (0.2%) | 1 (0.3%) | 0 (0) | 1 (0.7%) | 0 (0) | 0 (0) |
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| Age, N (%) | ||||||
| <35 | 82 (14.4%) | 26 (8.8%) | 13 (21.0%) | 26 (18.1%) | 21 (11.5%) | 22 (12.3%) |
| 35–50 | 295 (51.9%) | 154 (52.2%) | 39 (62.9%) | 71 (49.3%) | 94 (51.4%) | 91 (50.8%) |
| >50 | 191 (33.6%) | 115 (39.0%) | 10 (16.1%) | 47 (32.6%) | 68 (37.2%) | 66 (36.9%) |
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| Practice, N (%) | ||||||
| Major medical center | 399 (70.3%) | 233 (79.0%) | 41 (66.1%) | 107 (74.3%) | 136 (74.3%) | 115 (64.3%) |
| Private clinic | 92 (16.2%) | 31 (10.5%) | 8 (12.9%) | 25 (17.4%) | 26 (14.2%) | 33 (18.4%) |
| Other | 77 (13.6%) | 31 (10.5%) | 13 (21.0%) | 12 (8.3%) | 21 (11.5%) | 31 (17.3%) |
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| Profession, N (%) | ||||||
| General neurologist | 177 (31.2%) | 32 (51.6%) | 73 (50.7%) | 48 (26.4%) | 24 (13.4%) | |
| Movement specialist | 295 (51.9%) | 8 (12.9%) | 46 (31.9%) | 112 (61.5%) | 129 (72.1%) | |
| Genetic counselor | 1 (0.2%) | 0 (0) | 0 (0) | 0 (0) | 1 (0.6%) | |
| Health profession (non-MD) | 10 (5.1%) | 10 (16.1%) | 5 (3.5%) | 4 (2.2%) | 10 (5.6%) | |
| Other | 65 (11.5%) | 12 (19.4%) | 20 (13.9%) | 18 (9.9%) | 15 (8.4%) | |
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Human development Index HDI (mean ± SD) |
0.81 ± 0.12 | 0.86 ± 0.09 | 0.61 ± 0.09 | 0.76 ± 0.11 | 0.88 ± 0.05 | 0.85 ± 0.09 |
| Respondents from Developing countries (below HDI 0.788), N (%) | 226 (40.4%) | 63 (21.8%) | 61 (98.4%) | 88 (63.8%) | 9 (5.0%) | 68 (38.2%) |
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| 1B: Regional and practice-specific genetic testing; | Overall N=568 | Movement Specialists N=295 | MDS Section |
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| African N=62 | Asian/Oceanic N=144 | European N=183 | Pan-American N=179 | |||
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| Source of regional genetic testing: | ||||||
| An outside center | 191 (40.6%) | 95 (37.0%) | 57 (38.0%) | 63 (54.3%) | 53 (34.6%) | 57 (38.0%) |
| My center | 143 (30.4%) | 106 (41.3%) | 6 (11.5%) | 27 (23.3%) | 58 (37.9%) | 52 (34.7%) |
| Another dept at my center | 60 (12.7%) | 36 (14.0%) | 21 (14.0%) | 11 (9.5%) | 28 (18.3%) | 21 (14.0%) |
| Do not refer for testing | 56 (11.9%) | 17 (6.6%) | 11 (7.3%) | 10 (8.6%) | 12 (7.8%) | 11 (7.3%) |
| Do not know | 21 (4.5%) | 3 (1.2%) | 9 (6.0%) | 5 (4.3%) | 2 (1.3%) | 9 (6.0%) |
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| Describe genetic testing in your area: | ||||||
| Restricted to select centers | 256 (54.4%) | 146 (56.8%) | 18 (34.6%) | 61 (52.6%) | 80 (52.3%) | 97 (64.7%) |
| Accessible to general neurology | 149 (31.6%) | 99 (38.5%) | 4 (7.7%) | 36 (31.0%) | 64 (41.8%) | 45 (30.0%) |
| Not available in my country | 66 (14.0%) | 12 (4.7%) | 30 (57.7%) | 19 (16.4%) | 9 (5.9%) | 8 (5.3%) |
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| Frequency of clinical testing sent by an MD at your center: | ||||||
| Common (≥1 per month) | 90 (19.1%) | 68 (24.5%) | 2 (3.9%) | 19 (16.4%) | 42 (27.5%) | 27 (18.0%) |
| Infrequent (<1 per month) | 164 (34.8%) | 108 (42.0%) | 7 (13.5%) | 41 (35.3%) | 55 (36.0%) | 61 (40.7%) |
| Rare (<1 per 6 months) | 142 (30.2%) | 61 (23.7%) | 19 (36.5%) | 40 (34.5%) | 38 (24.8%) | 45 (30.0%) |
| Never | 75 (15.9%) | 20 (7.8%) | 24 (46.2%) | 16 (13.8%) | 18 (11.8%) | 17 (11.3%) |
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| Regional frequency: providers sending clinical testing: | ||||||
| Common (≥1 per month) | 28 (5.9%) | 19 (7.4%) | 2 (3.9%) | 7 (6.0%) | 16 (10.5%) | 3 (2.0%) |
| Infrequent (<1 per month) | 109 (23.1%) | 76 (29.6%) | 3 (5.8%) | 28 (24.1%) | 37 (24.2%) | 41 (27.3%) |
| Rare (< 1 per 6 months) | 233 (49.5%) | 126 (49.0%) | 19 (36.5%) | 56 (48.3%) | 79 (51.6%) | 79 (52.7%) |
| Never | 101 (21.4%) | 36 (14.0%) | 28 (53.9%) | 25 (21.6%) | 21 (13.7%) | 27 (18.0%) |
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| Testing sent from your center (may include >1) | ||||||
| Panel | 249 (52.9%) | 79 (69.6%) | 6 (11.5%) | 46 (39.7%) | 105 (68.6%) | 92 (61.3%) |
| Specific single genes | 193 (41.0%) | 135 (52.5%) | 7 (13.5%) | 44 (37.9%) | 77 (50.3%) | 65 (43.3%) |
| WES | 140 (29.7%) | 99 (38.5%) | 6 (11.5%) | 36 (31.0%) | 49 (32.0%) | 49 (32.7%) |
| WGS | 70 (14.9%) | 48 (18.7%) | 3 (5.8%) | 17 (14.7%) | 29 (19.0%) | 21 (14.0%) |
| None | 59 (12.5%) | 19 (7.4%) | 21 (40.4%) | 10 (8.6%) | 10 (6.5%) | 18 (12.0%) |
| N/A | 76 (16.1%) | 16 (6.2%) | 22 (42.3%) | 21 (18.1%) | 15 (9.8%) | 18 (12.0%) |
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| Certified laboratory required for clinical testing? | ||||||
| Yes | 279 (59.2%) | 174 (67.7%) | 19 (36.5%) | 67 (57.8%) | 103 (67.3%) | 90 (60.0%) |
| No | 73 (15.5%) | 39 (15.2%) | 10 (19.2%) | 19 (16.4%) | 10 (19.2%) | 18 (12.0%) |
| Do not know | 119 (25.3%) | 44 (17.1%) | 23 (44.2%) | 30 (25.9%) | 24 (15.7%) | 42 (28.0%) |
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| 1C Barriers to genetic testing and knowledge of genetic testing | Overall N=568 | Movement Specialists N=295 | MDS Section |
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| African N=62 | Asian/Oceanic N=144 | European N=183 | Pan-American N=179 | |||
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| Major unmet needs: obtaining testing for your patients? SÂ | ||||||
| Cost | 305 (78.6%) | 330 (78.6%) | 33 (91.7%) | 78 (82.1%) | 81 (62.3%) | 113 (89.0%) |
| Access | 247 (63.7%) | 271 (64.5%) | 30 (83.3%) | 54 (56.8%) | 71 (54.6%) | 92 (72.4%) |
| Knowledge | 232 (59.8%) | 254 (60.5%) | 20 (55.6%) | 58 (61.1%) | 90 (69.2%) | 64 (50.4%) |
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| Cost Burden | ||||||
| Insurance/govt | 115 (24.4%) | 78 (30.4%) | 0 (0) | 12 (10.3%) | 82 (53.6%) | 21 (14.0%) |
| High burden to patient | 223 (47.4%) | 92 (25.8%) | 41 (78.9%) | 81 (69.8%) | 47 (30.7%) | 54 (36.0%) |
| Low burden to patient | 46 (9.8%) | 26 (10.1%) | 4 (7.7%) | 16 (13.8%) | 12 (7.8%) | 14 (9.3%) |
| Variable burden to patient | 87 (18.5%) | 61 (23.7%) | 7 (13.5%) | 7 (6.0%) | 12 (7.8%) | 61 (40.7%) |
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| Barriers for Neurologists | ||||||
| Patient cost | 308 (71.1%) | 163 (71.2%) | 37 (74.0%) | 86 (76.8%) | 63 (48.8%) | 122 (85.9%) |
| Knowledge | 202 (46.7%) | 99 (43.2%) | 27 (54.0%) | 59 (52.7%) | 68 (52.7%) | 48 (33.8%) |
| Access to GC | 160 (37.0%) | 69 (30.1%) | 28 (56.0%) | 40 (35.7%) | 44 (34.1%) | 48 (33.8%) |
| Access to testing | 142 (32.8%) | 60 (26.2%) | 32 (64.0%) | 42 (37.5%) | 32 (24.8%) | 36 (25.4%) |
| None | 29 (6.7%) | 24 (10.5%) | 1 (2.0%) | 4 (3.6%) | 21 (16.3%) | 3 (2.1%) |
| Other | 29 (6.7%) | 17 (7.4%) | 2 (4.0%) | 5 (4.5%) | 8 (6.2%) | 14 (9.9%) |
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Barriers for MD Specialist
(may include more than one) |
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| Patient cost | NA | 151 (69.6%) | 3 (60.0%) | 29 (76.3%) | 34 (47.2%) | 85 (83.3%) |
| Knowledge | 26 (12.0%) | 1 (20.0%) | 4 (10.5%) | 11 (15.3%) | 10 (9.8%) | |
| Availability | 91 (41.9%) | 4 (80.0%) | 14 (36.8%) | 27 (37.5%) | 46 (45.1%) | |
| Testing time | 54 (24.9%) | 0 (0) | 12 (31.6%) | 21 (29.2%) | 21 (20.6%) | |
| Counseling time | 46 (21.2%) | 1 (20.0%) | 10 (26.3%) | 15 (20.8%) | 20 (19.6%) | |
| None | 32 (14.7%) | 0 (0) | 5 (13.2%) | 21 (29.2%) | 6 (5.9%) | |
| Other/NA | 40 (18.4%) | 3 (60.0%) | 3 (7.9%) | 16 (22.2%) | 20 (19.6%) | |
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| Patient Genetics knowledge | ||||||
| Low | 318 (80.9%) | 173 (72.7%) | 35 (97.2%) | 80 (83.3%) | 101 (76.5%) | 102 (79.1%) |
| Medium | 66 (16.8%) | 56 (23.5%) | 1 (2.8%) | 13 (13.5%) | 26 (19.7%) | 26 (20.2%) |
| High | 9 (2.3%) | 9 (3.8%) | 0 (0) | 3 (3.1%) | 5 (3.8%) | 1 (0.8%) |
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| Physician Genetic testing knowledge level | ||||||
| Low | 147 (34.5%) | 38 (16.0%) | 22 (48.9%) | 50 (49.0%) | 36 (25.9%) | 39 (27.9%) |
| Medium | 196 (46.0%) | 126 (52.9%) | 19 (42.2%) | 35 (34.3%) | 69 (49.6%) | 73 (52.1%) |
| High | 83 (19.5%) | 74 (31.1%) | 4 (8.9%) | 17 (16.7%) | 34 (24.5%) | 28 (20.0%) |
Most responses were from movement disorder specialists (n=295, 52.0%) and general neurologists (177, 31.2%), although this varied by region. As delineated in the table, participants, regardless of specialty, were from the following regions: African (62), Asian/Oceanic (144), European (183), and Pan-American (179). 83.7% (394/471) of participants responded that a center in their region provided genetic testing, although ordering genetic testing was uncommon for physicians across all MDS regions. When genetic testing is ordered, a variety of genetic tests are utilized: multigene panels (52.9% overall), single gene tests (41.0%), whole exome sequencing (29.7%) and whole-genome sequencing (14.9%). Major unmet needs in genetic testing included the cost of testing (78.6%), as well as access to genetic testing (63.7%) and knowledge about genetic testing (59.8%). Patient cost was seen as a significant barrier to genetic testing for the general neurologist (71.1%), as well as knowledge (46.7%), access to testing (32.8%), and access to counseling (37%). 58% of participants said they were interested in resources that would help improve their knowledge of genetic counseling. Complete summary provided in supplemental material. SA: select all that apply; ^limited to patient facing participants. 400/568 respondents completed all 52 questions.