| Phase 1 |
Focus group A |
1 |
Huntington's disease (HD) |
Mother unaffected, son (aged 17) unaffected |
| |
|
2 |
Polycystic kidney disease (PKD) |
Mother affected, son (aged 11) affected by PKD |
| |
|
3 |
Prader Willi syndrome (PWS) |
Father unaffected by PWS, daughter (aged 9) unaffected by PWS |
| |
|
4 |
Huntington's disease (HD) |
Mother unaffected by HD, father affected by HD, son (aged 14) at risk of HD, son (aged 11) at risk of HD |
| |
|
5 |
Huntington's disease (HD) |
Mother unaffected, Son (aged 18) at risk of HD, Daughter (aged 12) at risk of HD |
| |
|
6 |
Huntington's disease (HD) |
Aunt/Carer, unaffected by HD, son (aged 18) at risk of HD, daughter (aged 11) at risk of HD |
| |
|
7 |
Polycystic kidney disease (PKD) |
Father, affected by PKD, mother, not affected by PKD, son (aged 7), at risk of PKD |
| |
|
GCs |
N/A |
7 genetic counsellors from genetics departments across the United Kingdom |
| |
Focus group B |
2 |
Polycystic kidney disease (PKD)) |
Mother affected, son (aged 11) affected by PKD |
| |
|
4 |
Huntington's disease (HD) |
Mother unaffected by HD, father affected by HD, son (aged 14) at risk of HD, son (aged 11) at risk of HD |
| |
|
5 |
Huntington's disease (HD) |
Mother unaffected, son (aged 18) at risk of HD, daughter (aged 12) at risk of HD |
| |
|
6 |
Huntington's disease (HD) |
Aunt/Carer, unaffected by HD, son (aged 18) at risk of HD, daughter (aged 11) at risk of HD |
| |
|
7 |
Polycystic kidney disease (PKD) |
Father, affected by PKD, mother, not affected by PKD, son (aged 7), at risk of PKD |
| |
|
GCs |
N/A |
7 genetic counsellors from genetics departments across the United Kingdom |
| |
Focus group C |
8 |
Polycystic kidney disease (PKD) |
Mother, affected by PKD |
| |
|
9 |
Multiple endocrine neoplasia (MEN) |
Mother, affected by MEN |
| |
|
10 |
Huntington's disease (HD) |
Father, affected by HD |
| |
|
11 |
Vascular Ehlers-Danlos syndrome (EDS) |
Father, unaffected by V-EDS |
| |
|
GCs |
N/A |
2 Genetic counsellors from London |
| Phase 2 |
Mock MFDG |
2 |
Polycystic kidney disease (PKD) |
Mother affected, son (aged 11) affected by PKD |
| |
|
3 |
Prader Willi syndrome (PWS) |
Father unaffected by PWS |
| |
|
6 |
Huntington's disease (HD) |
Aunt/Carer, unaffected by HD, son (aged 18) at risk of HD, Daughter (aged 11) at risk of HD |
| |
|
7 |
Polycystic kidney disease (PKD) |
Father, affected by PKD, mother, not affected by PKD, son (aged 7), at risk of PKD |
| |
|
10 |
Huntington's disease (HD) |
Father, affected by HD, grand-mother, not affected by HD |
| |
|
11 |
Vascular Ehlers-Danlos syndrome (V-EDS) |
Mother, unaffected by V-EDS, grandmother, unaffected by V-EDS |
| Phase 3 |
Pilot MFDG |
3 |
Prader Willi syndrome (PWS) |
Father unaffected by PWS, mother unaffected by PWS, Son (aged 10) affected by PWS, Daughter (aged 9) unaffected by PWS |
| |
|
12 |
Ehlers-Danlos syndrome (EDS) |
Mother affected by EDS, daughter (aged 11) at risk of EDS |
| |
|
13 |
Von Hipple Lindau disease (VHL) |
Mother affected by VHL, daughter, unaffected by VHL |
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|
14 |
Familial adenomatous polyposis (FAP) |
Grandmother, unaffected by FAP, granddaughter (aged 16) affected by FAP |
| |
|
15 |
Familial adenomatous polyposis (FAP) |
Mother, unaffected by FAP, stepfather, unaffected by FAP, son (aged 15), affected by FAP |
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|
16 |
Ehlers-Danlos syndrome (EDS) |
Mother, affected by EDS, daughter, at risk from EDS, daughter, at risk from EDS, grandmother, unaffected by EDS, grandfather, affected by EDS |
