Table 2.
Self-reported results on experience and satisfaction by patients who underwent genetic testing (APC, BRCA or thrombophilia) at the genetic service of the San Camillo-Forlanini Hospital
| Testing type | |||||
|---|---|---|---|---|---|
| APC | BRCA1/2 | Thrombophilia | Total | p-value | |
| Genetic counselling and testing procedure | |||||
| Q1. Before you had the genetic test, did you receive appropriate information about testing procedure, benefits and limitations of the test, and eventual results? | |||||
| Yes (face-to-face) | 32 (97%) | 102 (98%) | 72 (72%)a | 206 (87%)a | <0.001 |
| No | 1 (3%) | 2 (2%) | 28 (28%) | 31 (13%) | |
| Q2. If yes, how satisfied are you with your understanding of the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results? | |||||
| Satisfied | 32 (100%) | 100 (98%) | 62 (86%) | 194 (94%) | 0.002 |
| Uncertain or dissatisfied | – | 2 (2%) | 10 (14%) | 12 (6%) | |
| Q3. After you had the genetic test, did you receive genetic counselling? (1 missing) | |||||
| Yes, by a geneticist | 22 (67%) | 56 (54%) | 16 (16%) | 94 (40%) | <0.001 |
| Yes, by a specialist | 2 (6%) | 7 (7%) | 51 (52%) | 60 (25%) | |
| Yes, by both a geneticist and a specialist | 6 (18%) | 37 (35%) | 14 (14%) | 57 (24%) | |
| No | 3 (9%) | 4 (4%) | 18 (18%) | 25 (11%) | |
| Q4. If yes, how satisfied are you with your understanding of what the test results mean, including your understanding of positive and negative results, and of the potential for uninformative results or incorrect results (such as false positives or false negatives)? (1 missing) | |||||
| Satisfied | 29 (97%) | 98 (98%) | 49 (60%) | 176 (83%) | <0.001 |
| Uncertain or dissatisfied | 1 (3%) | 2 (2%) | 32 (40%) | 35 (17%) | |
| Integrated care management | |||||
| Q5. Who referred you for genetic testing? | |||||
| Primary care physician | 5 (15%) | 6 (6%) | 6 (6%) | 17 (7%) | <0.001 |
| Geneticist | 12 (36%) | 31 (30%) | – | 43 (18%) | |
| Specialist | 16 (49%) | 67 (64%) | 94 (94%) | 177 (75%) | |
| Q6. If you have undergone genetic counselling, did the counsellor suggest dedicated health-care centres or specialized medical doctors who could manage your clinical case? | |||||
| Yes | 5 (15%) | 8 (8%) | 13 (13%) | 26 (11%) | 0.440 |
| No | 28 (85%) | 96 (92%) | 87 (87%) | 211 (89%) | |
| Q7. Has there been collaboration between the health-care professionals who participated in your care (e.g. the clinicians who required testing and clinical geneticists who reported results, or clinical geneticists who performed the genetic counselling and clinicians who planned a surveillance programme, etc.)? (1 missing) | |||||
| (Definitely or Probably) yes | 6 (18%) | 19 (18%) | 35 (35%) | 60 (25%) | 0.014 |
| Uncertain or (Definitely or Probably) no | 27 (82%) | 85 (82%) | 64 (65%) | 176 (75%) | |
| Quality of life | |||||
| Q8. Has the genetic testing improved your quality of life? b | |||||
| (Definitely or Probably) yes | 26 (79%) | 77 (74%) | 59 (59%) | 162 (68%) | 0.030 |
| Uncertain or (Definitely or Probably) no | 7 (21%) | 27 (26%) | 41 (41%) | 75 (32%) | |
| Q9. Has the genetic testing damaged your daily life? c | |||||
| Uncertain or (Definitely or Probably) no | 33 (100%) | 102 (98%) | 100 (100) | 235 (99%) | 0.628 |
| (Definitely or Probably) yes | – | 2 (2%) | – | 2 (1%) | |
a Three patients received both face-to-face and written information, and seven received only written information
b Exploring quality of life included how patients were able to do certain things (energy for everyday life, acceptance of bodily appearance, opportunity for leisure activities and capacity of work) and how they experienced various aspects of their life (sleep, daily living activities, personal and social relationships)
c clinical, psychological and social (discrimination and stigmatization) harms were investigated.