Table 3. Roles of researchers and their research studies for respondents who completed the online survey1.
| Researcher roles and characteristics | Number | Percentage |
|---|---|---|
| Role(s) of the researcher | ||
| Obtaining informed consent (N=193) | 77 | 38.9% |
| Collection of clinical/phenotypic data and biospecimens (N=191) | 97 | 49.0% |
| Generating genomic data (N=194) | 129 | 65.2% |
| Analysis of genomic data (N=192) | 169 | 85.4% |
| Receives de-identified samples/data (N=193) | 167 | 84.3% |
| Provides clinical care (N=194) | 56 | 28.3% |
|
| ||
| Years of experience enrolling participants or collecting samples in human genetic research (N=193) | ||
| < 1 year | 3 | 1.5% |
| 1-5 years | 41 | 20.7% |
| 6-10 years | 40 | 20.2% |
| 11-20 years | 36 | 18.2% |
| > 20 years | 21 | 10.6% |
| N/A | 52 | 26.3% |
|
| ||
| Populations studied (N=193) | ||
| Adults | 184 | 92.9% |
| Children | 120 | 60.6% |
| Fetuses | 12 | 6.1% |
| Adults lacking decision-making capacity | 32 | 16.2% |
| Terminally ill | 50 | 25.3% |
|
| ||
| Number of participants enrolled (N=194) | ||
| 100 or fewer | 20 | 10.1% |
| 101-500 | 25 | 12.6% |
| 501-1000 | 16 | 8.1% |
| 1001-5000 | 49 | 24.8% |
| 5001-10,000 | 14 | 7.1% |
| > 10,000 | 19 | 9.6% |
| N/A | 51 | 25.8% |
|
| ||
| Genetic methods used (N=193) | ||
| Candidate gene resequencing | 134 | 67.7% |
| CNV analysis | 123 | 62.1% |
| GWAS | 132 | 66.7% |
| WES | 153 | 77.3% |
| WGS | 110 | 55.6% |
| Methylation/epigenetic analysis | 54 | 27.3% |
|
| ||
| Participants studied using WES or WGS (N=166) | ||
| 10 or fewer | 11 | 5.6% |
| 11-50 | 34 | 17.2% |
| 51-100 | 21 | 10.6% |
| 101-500 | 47 | 23.7% |
| 501-1000 | 20 | 10.1% |
| > 1000 | 33 | 16.7% |
|
| ||
| Returned genetic research results to participants | ||
| Results that were the focus of the study (N=189) | 63 | 31.8% |
| Incidental or secondary results (N=188) | 33 | 16.7% |
1
Percentages based on total number of respondents (N=198)