Table II.
Theme of Challenge (N cases) | |||
---|---|---|---|
Coordination (7) | Secondary and Incidental Findings (4) | Informed Consent (4) | |
Patient details (N patients) | Delays in coordination of first RIGhT project patient due to unfamiliarity with process. (1) Delay due to parent located remotely. (2) Family rescheduled pre-test counseling appointment multiple times. (1) Send out delayed due to sample not being drawn urgently by ICU. (1) rES recommended on Friday. Coordination ahead of full RIGhT committee approval was needed to avoid weekend delay. Additional buccal sample was required for concurrent mitochondrial DNA analysis. (1) |
Secondary finding resulted post-mortem. (2) Incidental finding of adult-onset condition complicated transplant decision. (1) Incidental finding resulted after discharge. (1) |
Proband was at age of assent but temporarily incapacitated. (1) Parents consented on day 1 post-partum; difficulty tracking discussion. (1) Extremely low health literacy. (1) Geneticist did not fully discuss testing recommendation with family prior to GC visit leading to counseling challenges. (1) |