Table 2.
Result of SF analysis and specific questionnaires at TR, T6, and T12.
| Index Cases | SF1 (n = 16/18 returned) | SF2 (n = 20/22 returned) | SF3 (n = 11/13 returned) | |||||
|---|---|---|---|---|---|---|---|---|
| Name of gene involved |
Cardiac: DSG2 (1)a, FBN1 (1)a, MYBPC3 (1)a, MYH7 (1)a, RYR2b, TNNI3 (1)a Cancer: BRCA2 (1)a, SDHB (1)a Metabolic: LDLR (3)a,c, PCSK9 (1) Bleeding disorder: PROC (1)a, SERPINC1 (1)a, VWF (2)a Other: COL3A1b (1) DMD (1)a |
CFTR (2)a CYP21A2 (2) HFE (15)a,c SMN1 (1)a Pseudogene to gene CYP21A2 and SMN1b |
CYP2C19 Hmz (6)a,c CYP2C9 Hmz (7 + 2b)a |
|||||
| Identification of primary finding (PF) | With PF | 7/16 (44%) | 8/20 (40%) | 3/11 (27%) | ||||
| Without PF | 9/16 (56%) | 12/20 (60%) | 8/11 (73%) | |||||
| SPECIFIC QUESTIONNAIRE AT TR (only in responding parents) | N = 19 | N = 18 | N = 14 | |||||
| Satisfaction to have SF results (fairly to fully) | 89% | 94% | 100% | |||||
| Worry (fairly to fully) | 37% | 35% | 14% | |||||
| Regret requesting access to SF | 0% | 0% | 0% | |||||
| SPECIFIC QUESTIONNAIRE AT T6 AND T12 | ||||||||
| Change in lifestyle habits for the child (a little to a lot) | T6 | 6/16 | (38%) | 2/16 | (13%) | 1/10 | (10%) | |
| T12 | 6/13 | (46%) | 4/17 | (24%) | 2/11 | (18%) | ||
| Implementation of some actions of prevention for the child (food, sport…) | T6 | 7/16 | (44%) | 0/16 | (0%) | 1/10 | (10%) | |
| T12 | 5/13 | (38%) | 1/17 | (6%) | 2/11 | (18%) | ||
| Change in future projects | T6 | 0/16 | (0%) | 2/17 | (12%) | 0/10 | (0%) | |
| T12 | 3/13 | (23%) | 4/17 | (24%) | 1/10 | (10%) | ||
| Change in the vision of child’s future | T6 | 3/16 | (19%) | 4/16 | (25%) | 0/10 | (0%) | |
| T12 | 2/13 | (15%) | 3/17 | (18%) | 2/11 | (18%) | ||
| Changes in perception of the child’s body | T6 | 2/16 | (13%) | 1/16 | (6%) | 0/10 | (0%) | |
| T12 | 2/13 | (15%) | 0/17 | (0%) | 0/11 | (0%) | ||
| Change in the relationship with their child | T6 | 5/16 | (31%) | 1/16 | (6%) | 1/10 | (10%) | |
| T12 | 3/12 | (25%) | 4/17 | (24%) | 0/11 | (0%) | ||
| Change in perception of their child | T6 | 1/16 | (6%) | 2/16 | (13%) | 1/10 | (10%) | |
| T12 | 0/12 | (0%) | 0/17 | (0%) | 0/11 | (0%) | ||
| SPECIFIC QUESTIONNAIRE AT T12 | ||||||||
| One year later, how do you feel about the SF results? | ||||||||
| Satisfaction (fairly to fully) | 5/5 | (100%) | 4/4 | (100%) | 2/3 | (67%) | ||
| Worry (fairly to fully) | 0/5 | (0%) | 0/4 | (0%) | 2/3 | (67%) | ||
Hmz homozgote, SF secondary findings, TR time at results, T6 time at 6 months after results, T12 time at 12 months after results.
aIncluded individuals in the qualitative part.
bNot returned to patient (change of mind or not back for consultation).
c2SF.