Description
This logic path provides recommendations for referral to genetic counseling for genetic/familial cancer risk assessment and consideration for genetic testing. These recommendations are provided independently of screening/surveillance recommendations, but are intending to act as an available stepping stone to in determining if the patient’s risk for colorectal cancer justifies intensified screening/surveillance initiation and intervals.
Mid-Level Flow Diagram
Semi-Structured Logic Statements
Inclusions
| Name | Description |
|---|---|
Patients eligible for screening | Patients for whom screening is clinically appropriate. |
See 'Screening Eligible' logic path | |
Exclusions
None.
Events
| Name | Description |
|---|---|
Family history of inherited genetic susceptibility to colorectal cancer? | |
FAMILY HISTORY includes DIAGNOSIS `Genetic mutation associated with increased risk of colorectal cancer` | |
Variant status known? | Patient has been tested for the familial variant and a result is available. |
Personal history of syndrome-related cancer diagnosed before age 50? | Patient has a history of a hereditary syndrome-related cancer diagnosed before age 50. |
CONDITIONS include `Cancers Associated with Hereditary Cancer Syndromes Conferring Increased Risk of Colorectal Cancer` AND age at diagnosis <= 50 years | |
Family history of hereditary syndrome-associated cancer? | Patient has a family history of a cancer associated with a hereditary syndrome. |
FAMILY HISTORY includes DIAGNOSIS `Cancers Associated with Hereditary Cancer Syndromes Conferring Increased Risk of Colorectal Cancer` | |
1 or more first-degree relative diagnosed with hereditary syndrome-associated cancer diagnosed before age 50? | Patient has at least one first-degree relative (mother, father, sibling or child) diagnosed with a hereditary cancer syndrome-related cancer before age 50. |
FAMILY HISTORY includes DIAGNOSIS `Cancers Associated with Hereditary Cancer Syndromes Conferring Increased Risk of Colorectal Cancer` AND age at diagnosis <= 50 years | |
3 or more relatives with a hereditary syndrome-associated cancer? | Patient has 3 or more relatives (first-degree relatives - mother, father, sibling, or child - or second degree relatives - grandparents, half-siblings, first cousins, aunts and uncles, nieces and nephews) |
COUNT OF (FAMILY HISTORY includes DIAGNOSIS `Cancers Associated with Hereditary Cancer Syndromes Conferring Increased Risk of Colorectal Cancer` in (`First-degree relative` OR `Second-degree relative`)) >= 3 | |
Actions
Recommendation: Consider referral to genetic counseling for possible genetic testing Description RECOMMENDATION: Cancer risk assessment and genetic counseling are highly recommended when genetic testing is offered, including consideration of the most appropriate tests to order. Source: NCCN (2024) Pseudocode |
Recommendation: Consider referral to genetic counseling for comprehensive cancer risk assessment/genetic evaluation Description RECOMMENDATION: Consider conducting a more comprehensive family history and/or referral to genetic counseling for a cancer risk assessment. Source: ACG (2014), NCCN (2024) Pseudocode |
References
- USMSTF (2014): Giardiello, F. M., et al. (2014). Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the US multi-society task force on colorectal cancer. American Journal of Gastroenterology, 109(8), 1159–1179. https://doi.org/10.1038/ajg.2014.186
- NCCN (2.2024): NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric V.2.2024. https://www.nccn.org/professionals/physician_gls/pdf/genetics_ceg.pdf