Table 3 Challenges organised by step in the automated reanalysis process, coded to the CFIR, matched to top rated ERIC strategies and experience-based example of the strategy.

Step 1

Patient consented for reanalysis at primary test

Unknown consent process. How to opt out, reconsent at age of transition, or analysis scope is broadened, and when offered in mainstream services

Design, Quality & Packaging

Promote adaptability

Clinical team education

…clarity around the lab processes and good education to the different clinical units about the process so they can then interpret that in a way that they can educate their patients. GC14

Develop educational materials

Obtain & use patient/consumer/family feedback

Step 2 Automated pipeline triggered

Updating clinical information. No mechanism to update the pipeline with new clinical information

Available Resources

Access new funding

A clinical information feed platform and teamworking with primary care physicians

Unless, you have some amazing platform that allows physicians and health care providers who have ongoing contact with the patient and family to be able to add in additional information. GC18

Change physical structure & equipment

Fund & contract for clinical innovation

Trust in the automated pipeline. That the pipeline is triggered and performs as expected

Knowledge & Beliefs

Conduct educational meetings

Local champions at services

…it won’t be until it is implemented then people will see the benefit and that instils trust…I think having champions at each site that are really engaged with the project and can help almost guide those clinicians. GC14

Identify & prepare champions

Develop educational materials

Executing

Purposely re-examine the implementation

An audit process

From our [the laboratory] point of view how do we sufficiently engage the software to know that the right things are being completed and then making a log of that process. Lab10

Develop & implement tools for quality monitoring

Provide local technical assistance

Step 3

Variant curation

Unknown laboratory workforce implications and skills shortage.

Executing

Purposely re-examine the implementation

Develop and test the pipeline

It comes down to having the right tool that allows us [the laboratory] a fairly hands free or even eyes free way of knowing what we need to follow-up. Lab11

Develop & implement tools for quality monitoring

Provide local technical assistance

Step 4

Clinical interpretation

Clinical workforce capacity. Lack of funding towards attending Multi-Disciplinary Team (MDTs) meetings

Available Resources

Access new funding

Additional renumeration

We already are involved in attending MDTs but our role is going to evolve … especially as patients are now going to be having reanalysis through our services, as long as that is funded and acknowledged. CG05

Step 5

Clinician informed about the result

Ensuring the report is received by a clinician who can action it.

Compatibility

Promote adaptability

Reporting pathway

The lab would need to have an agreement with each department…where there was a monitored inbox where reanalysed reports go so that if someone moves on or is on maternity leave for a year that report doesn’t get lost in the ether. GC06

Conduct local consensus discussions

Conduct cyclical small tests of change

Step 6

Into medical records

None reported

Step 7

Patient informed about the result

Clinical workforce implications. Managing expectations, locating patients/families and, results return appointments

Individual Stage of Change

Identify and prepare champions

Staffing levels and workforce infrastructure

You wouldn’t always need clinical geneticist to be involved in the return of results to families, skilled genetic counsellors can be involved in that process. So thinking about how to best utilise the workforce. CG03

Make training dynamic

Alter incentive/allowance structures

Processes for recontacting patients/ families.

Executing

Purposely re-examine the implementation

A national approach

If there was sone kind of national approach or database where we could track patients down easier GC17

Develop & implement tools for quality monitoring

Provide local technical assistance

Funded reanalysis programme

Lack of an appropriate funding model.

External policies & incentives

Involve executive boards

Appropriate funding model

You would need a completely new funding model. It needs to work at scale, so the more samples you process, each individual one becomes cheaper to get each answer. CG01

Alter incentive/allowance structures

Build a coalition