Table 1 Neurologists’ perceptions on returning WGS results
Questions and number of respondents | Percentage |
|---|---|
Gender (n = 155) | |
Female | 51.6 |
Male | 48.4 |
No answer | 24.0 |
Characteristics of patients (n = 204) | |
Mainly Adults (n = 98) | 48.0 |
Mainly Children (n = 76) | 37.3 |
Both (n = 30) | 14.7 |
Which of the following statements most closely describes your opinion about the return of WGS results to the patient, including incidental findings? | |
a. To be returned to a patient, WGS results should always have a demonstrated clinical utility for diagnosis, prognosis or treatment (n = 94/159) | 59.1 |
b. In some circumstances it may be appropriate to return WGS results that do not have a demonstrated clinical utility for diagnosis, prognosis or treatment (n = 65/159) | 40.9 |
i. reproductive decisions (n = 50/63) | 79.4 |
ii. parents’/proxies’ requests (n = 49/63) | 77.8 |
To be returned to a patient, an incidental finding should always…(statements were not mutually exclusive) | |
a. Be related to a disease for which effective preventive interventions or treatments were available (n = 111/158) | 70.3 |
b. Indicate a high risk of developing a specific disease (n = 104/158) | 76.8 |
c. Be about a disease whose onset may be expected in a near future (as opposed, for instance, to a result indicating a risk for a child of developing a disease late in adult life only) (n = 77/158) | 50.0 |
You agree that in WGS, analysis of the genomics should be limited to the genes likely to be relevant for a patient’s specific medical condition, so as to limit IFs (n = 108/157) | 68.8 |