Predisposition for Genetic Factors in Patient History
Predisposition for genetic factors is documented in the family history section of a patient's medical history, specifically through a multi-generational pedigree (typically three generations) that maps patterns of disease inheritance, age of onset, and affected relatives. 1
Core Components of Genetic Predisposition Documentation
The Family Genogram as Primary Tool
A genogram is the essential instrument for capturing genetic predisposition, serving as a diagram that identifies facts and relationship patterns across three or more generations of family members. 1 This tool is particularly critical for:
- Mapping psychiatric conditions including depression, anxiety, bipolar disorder, and other mental health diagnoses across generations 1, 2
- Documenting age of onset for conditions in relatives, which helps assess penetrance and risk 1
- Identifying patterns of inheritance (autosomal dominant, recessive, or complex polygenic patterns) 1
Specific Elements to Document
When assessing genetic predisposition, the family history must capture:
- First-degree relatives (parents, siblings, children) with specific attention to psychiatric disorders, as these confer 4-6 fold increased risk for conditions like bipolar disorder 2, 3
- Second and third-degree relatives to establish multi-generational patterns 1
- Neurologic conditions including progressive disorders, movement disorders, early-onset dementia, and unexplained myopathy 1
- Psychiatric history across generations: depression, anxiety, psychosis, personality changes, and substance use 1
- Age of onset and disease duration for affected relatives, as this influences risk assessment 1
Context for Mental Health Presentations
Depression and Anxiety with Genetic Loading
For adults with treatment-resistant depression or anxiety, the family history becomes particularly crucial:
- Document family history of mood disorders including unipolar depression, bipolar disorder, and anxiety disorders, as these share overlapping genetic influences 2, 4
- Screen for bipolar disorder in relatives, as approximately 20% of individuals with major depression eventually develop manic episodes, particularly with family history of affective disorders 2
- Assess for early warning patterns in the patient's own developmental history: mood lability, behavioral dyscontrol, irritability, and temperamental patterns (dysthymic, cyclothymic, hyperthymic) that may presage bipolar disorder 2
Critical Distinction in Documentation
The family history captures inherited predisposition (genetic risk), which is distinct from personal psychiatric history (the patient's own symptom timeline). 1 Both are essential but serve different purposes:
- Family history = genetic risk assessment and inheritance patterns
- Personal psychiatric history = individual symptom course, treatment response, and developmental trajectory
Practical Implementation
When to Obtain Detailed Genetic Family History
Obtain a comprehensive three-generation pedigree when:
- Complex or treatment-resistant presentations suggest possible genetic loading 1
- Early age of onset (childhood/adolescent onset increases familiality) 2
- Multiple psychiatric comorbidities are present 2
- Family members report similar conditions, even if not formally diagnosed 1, 5
Common Pitfalls to Avoid
Families often misreport or misunderstand medical conditions, particularly distinguishing between different psychiatric diagnoses (unipolar vs. bipolar depression, anxiety vs. psychosis). 6 To address this:
- Ask specific symptom-based questions rather than relying on reported diagnoses: "Did any relatives have periods of decreased sleep with increased energy?" rather than "Did anyone have bipolar disorder?" 1
- Probe for undiagnosed illness: "Did anyone have unexplained mood changes, hospitalizations, or functional decline?" 1
- Document uncertainty when family information is incomplete or unclear 1
Integration with Genetic Counseling Referral
Consider genetic counseling referral when:
- Strong multi-generational patterns suggest Mendelian inheritance 1
- Early-onset neurodegenerative conditions appear in the family history 1
- Patient requests predictive testing for known familial conditions 1
The family history serves as the screening tool that determines whether formal genetic evaluation is warranted. 1, 7
Documentation Strategy
Use both narrative and visual formats:
- Create a visual genogram during or after the interview to identify patterns 1
- Construct a timeline mapping onset of psychiatric problems to family context and life events 1
- Update regularly, as family information often emerges over multiple visits and as relatives develop new conditions 5, 7
The family history is not a one-time assessment but an evolving document that should be revisited as the patient's clinical picture clarifies and as new family information becomes available. 1, 5