Description
Risk assessment for women who have family history that may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes to determine who should receive referral for genetic counseling and, if indicated after counseling, testing.
Mid-Level Flow Diagram
Semi-Structured Logic Statements
Inclusions
| Name | Description |
|---|---|
Age 18 years and older | In children <18 y, genetic testing is generally not recommended when results would not impact medical management. Source: NCCN |
Patient age >= 18 | |
Assigned female at birth | Referenced guidelines apply to individuals assigned female at birth. For transgender women, refer to specialty guidelines. |
'Assigned female at birth' is TRUE | |
Exclusions
| Name | Description |
|---|---|
Patient is not eligible for screening | |
See 'Screening Eligible' flow logic | |
Events
| Name | Description |
|---|---|
Family history of inherited cancer susceptibility? | Any blood relative with known BRCA1/BRCA2 variants, Li-Fraumeni syndrome (TP53 variant), Cowden or Bannayan-Riley-Ruvalcaba syndromes (PTEN variants), and other variants known to be associated with increased risk of development of breast cancer. Variants may include ATM, BARD1, CDH1, CHEK2, NF1, PALB2, RAD51C, RAD51D, STK11. |
Unknown variant status? | Not previously tested for BRCA1/BRCA2 variants or other variant of concern based on known family history. |
DOES NOT EXIST 'BRCA-1 mutation diagnosis' OR 'BRCA-2 mutation diagnosis' OR 'BRCA-1 mutation test' OR 'BRCA-2 mutation test' OR DOES NOT EXIST prior genetic testing panel including variant of concern | |
Family history of breast, ovarian, tubal, or peritoneal cancer | Pedigree of blood relatives on both maternal and paternal side including asking about specific types of cancer, primary cancer sites, which family members were affected, whether relatives had multiple types of primary cancer, age at diagnosis, age at death, and sex of affected family members. |
Ancestry associated with BRCA1/2 gene mutations? | Can offer testing to individuals who have one grandparent identified as of Ashkenazi Jewish ancestry, irrespective of cancer history in the family and without additional risk factors (source: NCCN). |
Ashkenazi Jewish ancestry in at least one grandparent | |
Selected method for familial risk assessment | Method by which to perform assessment of risk of inherited variant associated with breast cancer susceptibility |
FORMAL OR INFORMAL | |
Family history risk assessment result? | Result of familial risk assessment, either formal using a validated risk tool or informal using clinician judgement |
Output of validated brief familial risk assessment tool is positive, as defined by tool itself OR Probability >5% of a BRCA1/2 P/LP variant based on prior probability models, if model does not provide cutoff OR Informal familial risk assessment suggestive of higher than average risk of genetic variant | |
Actions
Brief familial risk assessment tool Description Tools evaluated by the USPSTF include the Ontario Family History Assessment Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment Tool, 7-Question Family History Screening Tool, International Breast Cancer Intervention Study instrument (Tyrer-Cuzick), and brief versions of BRCAPRO. Source: USPSTF Pseudocode |
Informal familial risk assessment Description Perform assessment based on criteria in first- or second-degree blood relatives known to be associated with increased risk of inherited breast cancer susceptibility variant. Source: ACS Pseudocode |
Referral for genetic counseling Description Referral for genetic counseling if not previously consulted, or if limited panel was done and additional testing may be warranted. Source: USPSTF Pseudocode REFERRAL for genetic counseling |