Table 1. Participant demographics, AF gene, recruitment arm, primary condition status and result category, personal and family history of AF-related disease, disclosure process.
| Cancer | FH | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | BRCA1 | BRCA2 | MSH2 | MSH6 | MUTYH | APC | RET | VHL | Cancer AF | % | LDLR | APOB | APOE a | FH AF | % | Total | % | P value |
| AF variants in study cohort | ||||||||||||||||||
| AF | 12 | 26 | 1 | 9 | 1 | 2 | 5 | 1 | 57 | 64.0% | 26 | 5 | 1 | 32 | 36.0% | 89 | ||
| Unique variants | 12 | 19 | 1 | 8 | 1 | 2 | 3 | 1 | 47 | 18 | 1 | 1 | 20 | 67 | ||||
| Unique families | 12 | 24 | 1 | 9 | 1 | 2 | 4 | 1 | 54 | 25 | 5 | 1 | 31 | 85 | ||||
| Demographics | ||||||||||||||||||
| Female | 4 | 13 | 1 | 4 | - | 2 | 3 | - | 27 | 47.4% | 7 | 4 | 1 | 12 | 37.5% | 39 | 43.8% | |
| Age range | 31-69 | 23-60 | 50 | 29-56 | - | 42-50 | 59-83 | - | 23-83 | 39-66 | 29-65 | 32 | 29-66 | 23-83 | ||||
| Mean age (years) | 43.3 | 38.5 | 50 | 44.8 | - | 46 | 72 | - | 44.8 | 51.4 | 49.8 | 32 | 49.1 | 46.1 | ||||
| Male | 8 | 13 | - | 5 | 1 | - | 2 | 1 | 30 | 52.6% | 19 | 1 | 20 | 62.5% | 50 | 56.2% | ||
| Age range | 51-81 | 21-82 | - | 41-92 | 36 | - | 23-46 | 64 | 21-92 | 24-69 | 44 | - | 24-69 | 21-92 | ||||
| Mean age (years) | 63.4 | 48.9 | - | 62.2 | 36 | - | 34.5 | 64 | 54.1 | 47.9 | 44 | - | 47.8 | 51.6 | ||||
| Ethnicity | ||||||||||||||||||
| White British | 8 | 21 | 1 | 7 | 1 | 2 | 4 | 1 | 45 | 78.9% | 16 | 5 | 0 | 21 | 65.6% | 66 | 74.2% | |
| White, other White background | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1.8% | 1 | 0 | 0 | 1 | 3.1% | 2 | 2.2% | |
| British Asian, Indian | 3 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 5.3% | 0 | 0 | 0 | 0 | 0.0% | 3 | 3.4% | |
| Black British, Afro-caribbean | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1.8% | 1 | 0 | 0 | 1 | 3.1% | 2 | 2.2% | |
| Black, other Black background | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0% | 1 | 0 | 0 | 1 | 3.1% | 1 | 1.1% | |
| Mixed, White and Black Caribbean | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1.8% | 0 | 0 | 0 | 0 | 0.0% | 1 | 1.1% | |
| Mixed, other mixed background | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1.8% | 1 | 0 | 0 | 1 | 3.1% | 2 | 2.2% | |
| Chinese | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0% | 1 | 0 | 0 | 1 | 3.1% | 1 | 1.1% | |
| Hong Kongese | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.0% | 1 | 0 | 0 | 1 | 3.1% | 1 | 1.1% | |
| Not stated | 1 | 2 | 0 | 1 | 0 | 0 | 1 | 0 | 5 | 8.8% | 4 | 0 | 1 | 5 | 15.6% | 10 | 11.2% | |
| 100KGP recruitment arm | ||||||||||||||||||
| Rare disease | 9 | 24 | 1 | 7 | 0 | 2 | 4 | 1 | 48 | 84.2% | 22 | 5 | 1 | 28 | 87.5% | 76 | 85.4% | 0.76 |
| Cancer | 3 | 2 | 0 | 2 | 1 | 0 | 1 | 0 | 9 | 15.8% | 4 | 0 | 0 | 4 | 12.5% | 13 | 14.6% | |
| 100KGP primary condition status | ||||||||||||||||||
| Proband/affected | 7 | 10 | 0 | 3 | 1 | 0 | 3 | 1 | 25 | 43.9% | 10 | 2 | 0 | 12 | 37.5% | 37 | 41.6% | |
| Unaffected | 5 | 16 | 1 | 6 | 0 | 2 | 2 | 0 | 32 | 56.1% | 16 | 3 | 1 | 20 | 62.5% | 52 | 58.4% | |
| 100KGP primary condition result | ||||||||||||||||||
| Likely cause identified | 2 | 5 | 0 | 2 | 0 | 0 | 0 | 1 | 10 | 17.5% | 7 | 2 | 0 | 9 | 28.1% | 19 | 21.3% | |
| VUS/uncertain result | 2 | 2 | 0 | 0 | 0 | 1 | 2 | 0 | 7 | 12.3% | 1 | 3 | 0 | 4 | 12.5% | 11 | 12.4% | |
| No cause identified | 8 | 19 | 1 | 7 | 1 | 1 | 3 | 0 | 40 | 70.2% | 18 | 0 | 1 | 19 | 59.4% | 59 | 66.3% | |
| Evidence of AF-related disease | ||||||||||||||||||
| Only personal history | 0 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 3 | 5.3% | 7 | 1 | 0 | 8 | 25.0% | 11 | 12.4% | |
| Only family history | 5 | 9 | 0 | 0 | 0 | 0 | 0 | 0 | 14 | 24.6% | 5 | 3 | 1 | 9 | 28.1% | 23 | 25.8% | |
| Both personal and family history | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 0 | 3 | 5.3% | 10 | 1 | 0 | 11 | 34.4% | 14 | 15.7% | |
| Personal and/or family | 5 (42%) | 10 (38%) | 1 (100%) | 3 (50%) | 1 (100%) | 0 (0%) | 0 (0%) | 0 (0%) | 20 | 35.1% | 22 (85%) | 5 (100%) | 1 (100%) | 28 | 87.5% | 48 | 53.9% | <0.001 |
| Neither personal nor family history | 7 | 16 | 0 | 6 | 0 | 2 | 5 | 1 | 37 | 64.9% | 4 | 0 | 0 | 4 | 12.5% | 41 | 46.1% | |
| Disclosure process | ||||||||||||||||||
| Initial AF letter | 12 | 26 | 1 | 9 | 1 | 2 | 5 | 1 | 57 | 100.0% | 26 | 5 | 1 | 32 | 100.0% | 89 | 100.0% | |
| Pre-disclosure appt phone call | 6 | 12 | 0 | 7 | 1 | 0 | 2 | 0 | 22 | 38.6% | 0 | 0 | 0 | 0 | 0.0% | 22 | 24.7% | |
| AF disclosure appointments held by: | ||||||||||||||||||
| Consultant Geneticist | 4 | 3 | 0 | 3 | 0 | 1 | 4 | 1 | 16 | 28.1% | - | - | - | 0 | - | 16 | 18.0% | |
| Geneticist (Specialist Registrar) | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1.8% | - | - | - | 0 | - | 1 | 1.1% | |
| Consultant Genetic Counsellor | 1 | 5 | 1 | 3 | 0 | 1 | 0 | 0 | 11 | 19.3% | - | - | 0 | - | 11 | 12.4% | ||
| Principal Genetic Counsellor | 2 | 3 | 0 | 0 | 0 | 0 | 0 | 0 | 5 | 8.8% | - | - | - | 0 | - | 5 | 5.6% | |
| Genetic Counsellor | 4 | 14 | 0 | 3 | 0 | 0 | 0 | 0 | 21 | 36.8% | - | - | 0 | - | 21 | 23.6% | ||
| Trainee Genetic Counsellor | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 3 | 5.3% | - | - | - | 0 | - | 3 | 3.4% | |
| Lipid Consultant | - | - | - | - | - | - | - | - | 0 | - | 12 | 2 | 0 | 14 | 43.8% | 14 | 15.7% | |
| FH Nurse Specialist | - | - | - | - | - | - | - | - | 0 | - | 14 | 3 | 1 | 18 | 56.3% | 18 | 20.2% | |
No individuals in cohort with variant in MEN1, MLH1, or PCSK9
VUS/uncertain result: variant of uncertain significance or uncertain explanation for phenotype
a
APOE c.500_502 (p.Leu167del) only included in AF panel