Skip to main content
. Author manuscript; available in PMC: 2020 Apr 1.
Published in final edited form as: J Genet Couns. 2019 Apr;28(2):283–291. doi: 10.1002/jgc4.1116

Table II.

Counseling challenges retrospectively identified for rES patients. Challenges and their overarching theme were determined by unanimous consensus of the three RIGhT team GCs. Challenges were identified in 14 of 27 cases, with 1 case represented in both the coordination and secondary and incidental findings themes.

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)