Table 1 Summary of areas of consensus and disagreement with respect to the design of a clinical trial evaluating the effectiveness of targeted screening for thoracic aortic disease
Area | Question | Summary answer |
|---|---|---|
Imaging | Should relatives of patients affected by non-syndromic aortic disease undergo an imaging test? | Yes (95%) |
Which imaging test should be used in cases in which no clear genetic condition can be identified? | MRI (79%) Echocardiogram (21%) CT scan (21%) | |
Which imaging test should be employed in cases in which a genetic condition can be identified? | MRI (82%) Echocardiogram (36%) CT scan (45%) | |
What should be the method of choice for follow-up in relatives with an uncertain genetic variant? | MRI (84%) Echocardiogram (21%) CT scan (16%) | |
Starting from what age should relatives be screened with an imaging test? | 16 years (19%) 18 years (19%) 10 years before (19%) | |
What should be the optimal follow-up rate? | 1 year (70–100%) Consensus not reached for: -Family history (SDR) | |
Genetic testing | Should incidental findings be a reason to adopt a more focused test? | Yes (95%) |
Who should be involved in genetic screening? | FDR (100%) SDR (45%) TDR (10%) | |
When would a patient (with a previous negative or inconclusive genetic test result) require re-testing? | Newly diagnosed FDR (95%) New evidence of pathogenic variants (100%) | |
Is it appropriate to store a sample from a patient affected by aortic dissection in any case during an urgent operation, for the purpose of genetic testing? | Yes (95%) | |
Is it appropriate to discuss genetic testing with the family after an urgent surgery for aortic dissection? | Yes (95%) | |
Is it appropriate to discuss genetic testing with the family after a patient dies from aortic dissection? | Yes (100%) | |
Genetic counselling | Who should be the professional figure involved in informing patients about genetic risk (and therefore referring them to a clinical geneticist)? | Cardiac surgeon (69%) |
Should a multidisciplinary team be involved in the management of these families? What professional figures should be involved from the outset? | Clinical geneticist (100%) Cardiac surgeon (95%) Cardiologist (90%) Radiologist (84%) Psychologist (69%) | |
How many years before the youngest person dissects for that gene should we start surveillance? | 5 years (33%) 10 years (47%) | |
Regarding the age peak in the risk of dissection, is it best to consider the mean value or the lowest one to plan screening? | Youngest age at dissection (89%) | |
Should there be an upper age limit for offering genetic testing to the patient with a thoracic aortic disease? | No (79%) Yes (21%) | |
Which upper age limit should be considered? | Mean (SD) 72.9 (10.88) | |
Which psychological tests should be used to monitor the impact of the screening programme? (Depression) | HADS (30%) WHO WMH-CIDI (30%) | |
Which psychological tests should be used to monitor the impact of the screening programme? (Anxiety) | HAM-A (44.4%) | |
Trial design | What would be the optimal trial design to use to assess the value of a screening programme for TADs? | Cluster (50%) Stepped wedge (22%) Individual randomisation (28%) |
How many centres should be involved? | More than 7 (60%) | |
How long do you think it would take to change what is currently done for screening? | More than 2 years (57%) 2 years (21%) | |
What tool should be used to measure quality of life? | EQ-5D (47%) SF-36 (13%) | |
What are the most appropriate measures of effectiveness? | New diagnosed disease (70%) Long-term mortality (73%) | |
Which clinical events should be evaluated in this research? | Perioperative mortality (94%) AMI and stroke (83%) Length of stay (67%) AKI (61%) | |
When should relatives involved in the test be monitored for signs of depression and anxiety? | 12 months (52%) 12 months (52%) |