Table 2. Post-disclosure risk assessment and risk management procedure referrals and outcomes.
| Hereditary breast and ovarian cancer syndrome n=38; living n=37; female n=17; mean (range) follow up weeks: 52.2 (24-72.9) | ||||
|---|---|---|---|---|
| Risk assessment | Referred | Attended (no data) | Normal outcome (no data) | New AF-related cancer diagnosis (no data) |
| VHR breast screening (mammogram or breast MRI) | 16 | 5 (11) | 5 | 0 |
| Mammogram (symptomatic) | 1 | 1 | 1 | 0 |
| Prostate screening (GP or Urologist) | 17 | 5 (12) | (17) | (17) |
| Post-disclosure genetic counselling | 15 | 15 | - | - |
| Risk management | Referred | Attended (no data) | Decision to proceed |
New AF-related cancer
diagnosis |
| RR breast surgery | 10 | 4 (6) | 2 | 0 |
| RR ovarian surgery | 10 | 5 (5) | 4 | 0 |
| Lynch syndrome n=10; living n=9; female n=5; mean (range) follow up weeks: 48 (29.4-71.1) | ||||
| Risk assessment | Referred | Attended (no data) | Polyps found |
New AF-related cancer
diagnosis |
| Colonoscopy (or Lynch MDTclinic) |
9 | 2 (7) | 2 | 0 |
| Post-disclosure genetic counselling | 2 | 2 | - | |
| Risk management | Referred | Attended (no data) | Decision to proceed |
New AF-related cancer
diagnosis |
| Aspirin (GP prescription) | 6 | 4 (2) | 3 | NA |
| H. pylori test (GP) | 7 | 0 (7) | NA | NA |
| RR hysterectomy | 3 | 3 | 3 | 0 |
| Familial adenomatous polyposis n=2; MUTYH-associated polyposis n=1; mean (range) follow up weeks: 49.8 (40.4-67.1) | ||||
| Risk assessment | Referred | Attended (no data) | Polyps found |
New AF-related cancer
diagnosis |
| Colonoscopy | 3 | 1 (2) | 1 | 0 |
| Endoscopy | 2 | 1 (1) | 0 | 0 |
| Post-disclosure genetic counselling | 2 | 2 | - | - |
| Multiple endocrine neoplasia; n=5; mean (range) follow up weeks: 53.3 (28.4-60.1) | ||||
| Risk assessment | Referred | Attended (no data) | Normal outcome |
New AF-related cancer
diagnosis |
| Thyroid USS | 4 | 2 (2) | 1 | 0 |
| Biochemical tests | 4 | 3 (1) | 2 | 1 |
| Abdominal MRI | 1 | 0 (1) | - | - |
| Post-disclosure genetic counselling | 2 | 2 | »» | |
| Risk management | Referred | Attended | Surgery |
New AF-related cancer
diagnosis |
| Thyroidectomy | 2 | 2 | 2 | 1 |
| von Hippel-Lindau syndrome n=1; follow up weeks: 63 | ||||
| Risk assessment | Referred | Attended (no data) | Normal outcome |
New AF-related cancer
diagnosis |
| VHL clinic | 1 | 1 | 1 | 0 |
| Ophthalmology screening | 1 | 1 | 1 | 0 |
| Abdominal MRI | 1 | 1 | 1 | 0 |
| Post-disclosure genetic counselling | 0 | - | - | - |
| Familial hypercholesterolaemia n=32; mean (range) follow up weeks: 52.3 (27.3-72) | ||||
| Risk assessment |
Referred
(no data) |
Attended (no data) | Normal outcome | New AF-related diagnosis |
| Lipid screen | 18 (10) | 10 (7)a | 0 | 6 (of 6) |
| Post-disclosure genetic counselling | 7 | 7 | - | |
| New referral | Attended (no data) | Continue existing plan | ||
| Lipid clinic | 28 | 10 (17)a | 4 | |
| Risk management |
Begin therapy
(no data) |
Increase dose | Additional medicine | No change |
| Medication | 8(18) | 2 | 2 | 4 |