Consultation 1 – Using Long Read Sequencing to Revolutionise Genetic Testing in Leukaemia

Session Lead: Sophie Shaw, Bioinformatician (All Wales Medical Genomics Service [AWMGS])

This consultation focussed specifically on testing acute myeloid leukaemia (AML) and how the introduction of new technologies to the NHS could revolutionise this testing for patient benefit.

Members were split into break out groups where they provided answers to the following questions:

Breakout Group 1:  Would you rather the new faster test which might have a higher chance of missing a genetic change, or the old test which means results will be provided more slowly?

• Patients would want to have an understanding what the margin of error would be for the newer vs older tests in order to make the best, informed, decision.
• Reducing excess travel and time costs to the patient would be a key advantage to the new test as the patient would have to make fewer journeys to give samples.
• Accuracy is more important than speed, whilst it was discussed how quickly the turnaround time would be for the new test (3 calendar days) some felt that even this was too long to wait given the aggressiveness of cancers of this type.

Breakout Group 2: New testing detects all genetic changes in a single test, but it costs more. Some tests are faster, but some are slower. Would you rather have the new test or old test?

• Depending on the turnaround times, some members of this group felt that they would want both tests to ensure they get the most accurate picture.
• Some members of this group felt relatively relaxed about having multiple blood samples and taking the current nine tests, whereas others would prefer to have just one test which provides an overview of all genetic data.
• From a patient perspective some felt that the NHS cost savings would have less of an impact, with the potential benefits (e.g. faster diagnoses, reduced waiting times, etc.) to their family member/loved one being seeing as a more significant driver for wanting the newer test.
• Some wanted to see greater education about the newer test to be provided to GPs and the referring clinicians.

Breakout Group 3: New testing detects “additional findings” i.e. actionable genetic changes with a biological impact unrelated to leukaemia. For example, BRCA variation. Would you want to know? ​

• Additional findings should only be disclosed by a competent, trained professional, such as a Genetic Counsellor
• Whilst many of you indicated you would want to know any additional findings, providing they are actionable in a clinical setting, you cautioned against a blanket approach as not everyone in wider families would want to know. There would need to be a way of capturing individual preferences prior to testing whilst being clear on what is clinically actionable.
• The nuances and sensitivities involved in how information should be shared also needs to be taken into consideration as the patient and/or their families are likely to already be under a lot of stress at initial point of testing, but may be open to it in future.

Breakout Group 4: New testing detects “variants of unknown significance”. These are real changes but their role in leukaemia is unclear. Would you want to know? ​

• This group felt that the answer to this would depend on how this would affect the patient’s life. It was felt that it would be difficult to answer definitively, with some feeling the ‘uncertain’ aspects of these findings could be anxiety inducing.
• Support is critical, with there needing to be a clear pathway to support, including counselling/mental health to support patients.
• Others in the group felt that this may be a case of too much information. With this in mind, the group queried whether disclosing such findings was strictly necessary.
• Suggestion of potentially building in review periods where patients get their initial results and can, at a later point, refer themselves back in for more information.

Cross-cutting themes

• All groups emphasised the importance of obtaining informed consent in order to better inform decisions, both specific to the treatment on hand, and broader including reproductive choices.
• Accuracy was seen as a more important consideration than speed in most cases
• Clear communication is vital to conveying the benefit and efficacy of the test, including an estimated probability of the effectiveness of any follow-on treatment.
• The impact on staff resources/lab workloads would need to be considered, especially given the resource constraints experience within NHS clinical and laboratory environments
• Improved staff education and awareness amongst specialists of the nuances presented by this testing was seen as essential to the successful adoption of this new test.