Risk Assessment/Counseling

Risk communication is the two way exchange of information and opinion about risk, leading to better understanding and decisions (Edwards, Elwyn, & Mulley, 2002; Sivell et al., 2008). This complex set of tasks is integral to the general genetic counseling process. However, the relative importance of risk communication in a particular genetic counseling session may be major or minor (Michie, Lester, Pinto, & Marteau, 2005). Current genetic counseling job tasks were determined by the American Board of Genetic Counseling as the outcome of a Genetic Counseling Practice Analysis (Hampel et al., 2009).

The following lists the Risk Assessment and Risk Counseling tasks:

A. RISK ASSESSMENT

1. Analyze Pedigree
   1. Assess etiology (e.g., hereditary, familial, sporadic)
       
   2. Determine mode of inheritance
       
   3. Identify ethnicity and consanguinity based risks
       
2. Integrate medical, laboratory, and genetic information
    
3.  Modify differential diagnosis
    
4.  Perform Quantitative Risk Assessment
    
5.  Select risk assessment model based on client data (e.g., empiric data, Bayesian analysis, Gail model)
    
6.  Calculate risk (e.g., personal health, reproductive, susceptibility)
    

B. DIAGNOSIS AND NATURAL HISTORY DISCUSSION

1. Formulate counseling agenda
    
2.  Integrate natural history, characteristics, and symptoms of working diagnosis
    
3.  Incorporate client specific findings and needs
    
4.  Develop management plan
    
5.  Convey information about the following:
    
   1. diagnosis/indication
       
   2.  etiology
       
   3.  natural history
       
   4.  variable expressivity
       
   5.  penetrance
       
   6.  prognosis
       
   7.  prevention
       
   8.  treatment
       
   9.  management
       
6. Assess client understanding and response
    
7.  Tailor management plan according to client circumstances
    
8.  Modify counseling based on client’s understanding and response
    

C. INHERITANCE/RISK COUNSELING

1. Educate clients about
    
   1. basic genetic concepts
       
   2.  modes of inheritance
       
2. Counsel clients about the following
   1. genetic risks (e.g., carrier, reproductive, predictive)
       
   2.  risk modifiers
       
   3.  disease risks
       
3.  Evaluate client risk perception and response
    
4.  Address client misconceptions about their risks
    
5.  Modify counseling based on client’s understanding and response

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