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. 2019 Mar 27;10(4):489–499. doi: 10.1007/s12687-019-00418-7

Table 1.

Questionnaire of studies 1 and 2

Letter A Letter B
Patient General pop. Total Patient General pop. Total
N (75) % N (73) % N (148) % N (75) % N (80) % N (155) %
Characteristics of participants Sex Female 46 61.3 42 57.5 88 59.5 48 64.0 52 65.0 100 64.5
Male 29 38.7 31 42.5 60 40.5 27 36.0 28 35.0 55 35.5
Age (median) 35 37 35.5 41 40 40
Had at least one child 51 68.0 46 63.0 97 65.5 49 65.3 48 60.0 97 62.6
Worked in the health care sector 13 17.3 26 35.6 39 26.4 12 16.0 20 25.0 32 20.6
Understanding 1. How many times did you read this letter?
  One time 58 77.3 66 90.4 124 83.8 54 72.0 82 77.5 116 74.8
  Two times 17 22.7 7 9.6 24 16.2 19 25.3 17 21.3 36 23.1
  Three times or more 0 0.0 0 0.0 0 0.0 2 2.7 1 1.3 3 1.9
2. What is your level of understanding of this letter?
  0. Nothing is understood 0 0.0 0 0.0 0 0.0 1 1.3 1 1.3 2 1.3
  1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0
  2 3 4.0 7 9.6 10 6.8 0 0.0 0 0.0 0 0.0
  3 13 17.3 1 1.4 14 9.5 3 4.0 4 5.0 7 4.5
  4 9 12.0 19 26.0 28 18.9 16 21.3 11 13.8 27 17.4
  5. All are understood 50 66.7 46 63.0 96 64.9 55 73.3 64 80.0 119 76.8
3. Are there paragraphs which you had difficulty understanding?
  a. No 51 68.0 57 78.1 108 73.0 66 88.0 71 88.8 137 88.4
  b. Yes 24 32.0 16 21.9 40 27.0 9 12.0 9 11.3 18 11.6
4. What do you mainly learn through this letter?
  a. Nothing 1 1.3 0 0.0 1 0.7 2 2.7 0 0.0 2 1.3
  b. I am a carrier of a genetic anomaly 2 2.7 1 1.4 3 2.0 5 6.7 0 0.0 5 3.2
  c. A member of my family is a carrier of a genetic anomaly 31 41.3 33 45.2 64 43.2 28 37.5 29 36.3 57 36.8
  d: I could be a genetic disease carrier 25 33.3 23 31.5 48 32.4 27 36.0 37 46.3 64 41.3
  e. A consultation with a geneticist is offered to me 16 21.3 15 20.5 31 20.9 13 17.3 13 16.3 26 16.8
  f. It is an unsolicited letter 0 0.0 1 1.4 1 0.7 0 0.0 1 1.3 1 0.6
5. Do you think that all paragraphs are useful?
  a. Yes 63 84.0 54 74.0 117 79.1 70 93.3 74 94.9 144 94.1
  b. No 12 16.0 19 26.0 31 20.9 5 6.7 4 5.1 9 5.9
Feelings 6. The reading of this letter may arouse different feelings. What is the feeling that best applies to you?
  a. Happy 0 0.0 1 1.4 1 7.0 0 0.0 0 0.0 0 0.0
  b. Serene 2 2.7 8 11.0 10 68.0 4 5.3 2 2.5 6 3.9
  c. Curious 15 20.0 15 20.5 30 20.3 20 26.7 15 18.8 35 22.6
  d. Emotionless 5 6.7 0 0.0 5 34.0 0 0.0 4 5.0 4 2.6
  e. Shocked 4 5.3 5 6.8 9 6.1 3 4.0 3 3.8 6 3.9
  f. Worried 45 60.0 35 47.9 80 54.1 41 24.7 44 55.0 85 54.8
  g. Very worried 3 4.0 9 12.3 12 8.1 6 8.0 12 15.0 18 11.6
  h. Angry 1 1.3 0 0.0 1 0.7 1 1.3 0 0.0 1 0.6
7. If you feel worried, is it ….? (multiple answers can be selected) N = 48 N = 44 N = 92 N = 47 N = 56 N = 103
  a. For yourself 22 45.8 28 63.6 50 54.3 29 61.7 44 78.6 73 78.9
  b. For your child 32 34.8 45 43.7
  c. For your husband/wife 2 4.2 1 2.3 3 3.3 5 10.6 3 5.4 8 7.8
  d. For the affected family member 22 45.8 16 36.4 38 41.3 27 57.4 27 48.2 54 52.4
8. If you feel angry, is it …?
  a. In general 0 0 0 1 0 1
  b. Against affected family member 1 0 1 0 0 0
  c. Against the physician who sent the letter 0 0 0 0 0 0
9. What do you think about the term “genetic anomaly”?
  a. It is appropriate 39 52.0 31 42.5 70 47.3 34 45.3 36 45.0 70 45.2
  b. It is too frightening 1 1.3 3 4.1 4 2.7 2 2.7 8 10.0 10 6.5
  c. It is frightening but necessary 24 32.0 31 42.5 55 37.2 30 40.0 26 32.5 56 36.1
  d. It is reassuring 1 1.3 1 4.1 2 1.4 0 0.0 2 2.5 2 1.3
  e. Other 10 13.3 7 9.6 17 11.5 9 12.0 8 10.0 17 11.0
10. What do you think of the sentence “Some members may wish to discuss this and others will prefer to remain silent”?
  a. It is appropriate 46 61.3 32 43.8 78 52.7
  b. It is comforting 4 5.3 5 6.8 9 6.1
  c. It is unnecessary 19 25.3 27 37.0 46 31.1
  d. Other 6 8.0 9 12.3 15 10.1
Intention to contact HCP 11. Will you contact a health care professional?
  a. Yes 69 92.0 71 97.0 140 94.6 67 89.3 67 83.8 134 86.5
  b. No 3 4.0 2 2.7 5 3.4 2 2.7 2 2.5 4 2.6
  c. Do not know yet 3 4.0 0 0.0 3 2.0 6 8.0 11 13.8 17 11.0
12. If yes, would you contact …?
  a. Your general practitioner 22 29.3 9 12.3 31 20.9 7 9.3 13 16.3 20 12.9
  b. A genetics department 30 40.0 44 60.3 74 50.0 25 33.3 34 42.5 59 38.1
  c. Your general practitioner and genetics department 17 22.6 16 21.9 33 22.3 34 45.3 18 22.5 52 33.5
  d. Another health professional 0 0.0 2 2.7 2 1.4 1 1.3 2 2.5 3 1.9