Best Practices in Family History Collection and Risk Assessment for Primary Care

This toolkit was developed based on a set of best practices in family history collection and risk assessment in the primary care setting. This effort focused on cancer, specifically colorectal cancer risk assessment, but the same principles apply to other diseases. These best practices were derived from national guidelines and expert consensus, which included primary care clinicians. The upcoming chapters of the toolkit provide more detail on how to achieve the best practices below.

Clinical Skills Best Practices (Chapter 3)

Family history collection

  • Collect sufficient family history information to assess underlying cancer risk. This includes clarifying family structure for at least the patient’s and parents’ generations and grandparents at a minimum. Depending on the patient’s age, collect information about additional relatives (e.g., cousins). Identify cancer history in affected individuals, and identify if anyone in the family has had genetic testing.
  • Ask about cancer (all types) and polyps and ages of onset on both sides of the family. An individual does not have to be affected with a condition to pass on genetic risk factors to the next generation.
  • Remember to ask about any types of cancer in the family, not just CRC. Cancer syndromes can include risk for multiple types of cancers. CRC is not always a presenting cancer.
  • Be aware of factors that can complicate family history collection and interpretation (e.g., patients with incomplete or missing family history information such as early deaths, complex family relationships and structure, small families, adoption, surgeries that may prevent cancers).
  • Personal history risk assessment
  • Identify personal and lifestyle risk factors, including: past cancer, especially colorectal or endometrial; past adenomatous or serrated colon polyps (confirmed by pathology reports); inflammatory bowel disease.
  • Identify red flags in the patient’s current clinical presentation that may be signs or symptoms of CRC: blood in the stool, recent-onset and persistent or progressive diarrhea/constipation, persistent or progressive abdominal pain, abdominal mass, unexplained iron deficiency anemia, and/or unexplained weight loss.

Family history risk assessment

  • Identify red flags in the personal and family history that indicate increased cancer risk: early onset cancer or (confirmed) adenomatous or serrated colon polyps; multiple relatives with the same or associated cancers on the same side of the family; bilateral or multifocal disease; individual with greater than 10 (confirmed) adenomatous colon polyps; disease in the absence of known risk factors; ethnic predisposition to certain disorders.
  • Identify patterns in the family history that can point to inheritance patterns, familial clustering of cancer, or specific high-risk syndromes , such as Lynch syndrome.
  • Stratify patient cancer risk into average, increased (moderate) or or high risk according to guidelines-based criteria to determine management and next steps.
  • Consult with a genetic expert when you have questions about risk assessment.

Management based on risk assessment

  • Develop an appropriate evaluation plan based on personal and family history assessment. Patients with increased risk of cancer should be considered for earlier and/or more frequent screening. Patients at high risk of having a hereditary cancer syndrome in the family should be referred for genetic evaluation. Patients with a diagnosis of a hereditary cancer syndrome should undergo disease prevention and be managed based on syndrome-specific guidelines.
  • Educate the patient about risk factors, prevention strategies, and CRC signs and symptoms.
  • Incorporate specialist consultant input and recommendations from guidelines into the patient’s personalized management plan as needed.

Patient-centered communication

  • Communicate risk assessment and management guidelines tailored to the patient's comprehension and needs.

Clinical Processes Best Practices (Chapter 2)

  • Develop a systematic, team-based approach to family history collection and interpretation.
  • Use a tool (and/or EHR) to assist in family history collection and risk assessment.
  • Consider using or developing a standardized tool for risk assessment that can be used by members of the care team to streamline the work of physician, nurse practitioner, and/or physician assistant team members.
  • Maximize your EHR's capacity to support family history collection and risk assessment.
  • Incorporate CRC risk assessment into standard data collection and risk assessment processes for other conditions (e.g., breast cancer, diabetes).
  • Develop a professional relationship with local genetic professionals, and oncologists and gastroenterologists with interest and/or expertise in hereditary cancer, and seek consultation around management issues as needed.
  • Develop systems and workflows that connect risk assessment outcomes to clinical actions.
  • Develop systems and workflows to track actions taken over time, including (a) referrals to genetic and cancer specialists, and (b) screening, surveillance, and prevention procedures for those individuals at increased risk.
  • Develop systems to ensure that updates are made to the clinic process when risk assessment or management guidelines are changed.
  • Update the family history over time. Relatives’ health and disease status may change, which may affect your patient’s risk assessment.