Table 2.
Roles of researchers and their research studies for respondents who completed the online survey
| Researcher roles and characteristics | Number | Percentage |
|---|---|---|
| Role(s) of the researcher | ||
| Obtaining informed consent | 116 | 48.1 |
| Collection of clinical/phenotypic data and biospecimens | 131 | 54.4 |
| Generating genomic data | 164 | 68.0 |
| Analysis of genomic data | 218 | 90.5 |
| Receiving deidentified samples/data | 194 | 80.5 |
| Providing clinical care | 14 | 5.8 |
|
| ||
| Years of experience in human genetic research | ||
| <1 year | 4 | 2.3 |
| 1–5 years | 54 | 30.5 |
| 6–10 years | 42 | 23.7 |
| 11–20 years | 48 | 27.1 |
| >20 years | 29 | 16.4 |
|
| ||
| Populations studied | ||
| Adults | 228 | 94.6 |
| Children | 137 | 56.8 |
| Fetuses | 20 | 8.3 |
| Adults lacking decision-making capacity | 41 | 17.0 |
| Terminally ill | 72 | 29.9 |
|
| ||
| Number of participants enrolled | ||
| ≤100 | 29 | 16.3 |
| 101–500 | 29 | 16.3 |
| 501–1,000 | 20 | 11.2 |
| 1,001–5,000 | 66 | 37.1 |
| 5,001–10,000 | 15 | 8.4 |
| >10,000 | 19 | 10.7 |
|
| ||
| Genetic methods used | ||
| Candidate gene resequencing | 176 | 73.0 |
| CNV analysis | 164 | 68.0 |
| GWAS | 164 | 68.0 |
| WES | 178 | 73.9 |
| WGS | 132 | 54.8 |
| WES and WGS | 112 | 46.5 |
| Plans to do WES/WGS | 35 | 14.5 |
|
| ||
| Participants studied using WES or WGS | ||
| <10 | 25 | 12.3 |
| 11–50 | 41 | 20.1 |
| 51–100 | 32 | 15.7 |
| 101–500 | 54 | 26.5 |
| 501–1,000 | 20 | 9.8 |
| >1,000 | 32 | 13.3 |
CNV, copy-number variant; GWAS, genome-wide association study; WES, whole-exome sequencing; WGS, whole-genome sequencing.