Table 5.
Themes and illustrative quotes about rWGS implementation and wider adoption.
| Themes/Subthemes | Quotes |
|---|---|
| Enthusiasm for rWGS in current or future patient care | |
| Potential to improve diagnostic accuracy and speed, leading to more effective treatment | “This tool will change how we care for patients; it can offer treatments and early diagnosis to conditions that would have otherwise taken a very long time and additional costs.” (Physician) “Very important to help families get answers sooner and help determine if there are any treatments available that may help.” (Genetic Counselor) “There are definitely some patients who could benefit, especially those whose clinical conditions are hard to explain for other reasons.” (Direct care nurse) |
| Qualified enthusiasm | “Hoping this test becomes a covered benefit from insurers so no child in need has to go without access.” (Physician) “Cost, resources and utility of results in the near term are not yet certain although expect this to be more obvious in the future.” (Hospital administrator) |
| Implementation of rWGS | |
| Satisfaction with implementation | “It is well run with our clinical champions coordinating and providing the counseling and education.” (Physician) |
| Limited experience; interest in learning more | “It has been so great to be able to do rWGS but more education needed for staff and provider understanding/comfort.” (Nurse Practitioner) “I have heard it mentioned while on multidisciplinary rounds, but as a resident, I feel disconnected and not sure where to turn to (aside from our Geneticist) on a day-to-day basis for rWGS testing and information. I do not feel confident in talking about rWGS alone with my patients and would appreciate more education to help this project take flight at my institution.” (Resident) |
| Role of genetics service | “Our genetic team has been a key for this project and we rely on them.” (Physician) “Until now this has been monopolized by the genetics department. I feel that this should be a more widely accessible test and based on results or concerns then genetics can be contacted. This reminds me of not ordering an echo till a patient is seen by cardiology. The reality is we order echo and work-ups including troponins and BNP etc., then contact cardiology.” (Physician) |
| Concerns about wider use of rWGS/genomic testing | |
| “I think case specific rWGS has merit, but the extraneous data that may impact insurability must be non-discoverable by insurance companies, and extreme caution should be used by providers to be sure patients are not overwhelmed by unexpected information.” (Physician) “I feel this is an option for parents but also feel it is a decision they need to make after all the appropriate education is given to them.” (Nurse Practitioner) |
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