John and his wife, Barbara, decided to be tested for the Tay Sachs gene.  John and Barbara both tested positive for the mutated form of the Tay Sachs gene.  John and Barbara decided to marry anyway, but to adopt children rather than run the risk of having a child with Tay Sachs disease.  (The book club members do not know this story—you may tell it to them.)

• Genetic testing
  
  • The test only requires a blood sample to be drawn.
  • The cost of genetic testing for breast cancer varies from several hundred to several thousand dollars, depending on the type and levels of testing required.
   
• Tests are available that can screen for cystic fibrosis, Duchenne muscular dystrophy, fragile X syndrome, Gaucher's disease, Huntington's disease, Lou Gehrig's disease, Marfan syndrome, Tay Sachs, and many others.
   
• Tay Sachs disease—a genetic disease that can be identified by genetic testing.
  
  • Children born with Tay Sachs, a genetic disease, die by the age of two.
  • Tay Sachs is a recessive disease—you need two copies, one from each parent, to get the disease. Each natural child of two carriers has a one in four chance of having the disease.
  • A massive government genetic screening program during the 1970s reduced the number of babies dying per year from 50-100 to less than 15.
   
• Law
  
  • The Americans with Disabilities Act (ADA) forbids employers from discriminating against disabled individuals who can do their job.
  • In March 1995, the Equal Employment Opportunities Commission (EEOC) said that people with genetic predisposition to disease are perceived as disabled and protected by the ADA.
  • The Health Insurance Portability and Accountability Act (HIPAA) of 1996 prohibits group health plans from denying coverage based on health status.  An individual cannot be excluded just because of genetic information.
   
• News—Government genetic screening program recommendations address cystic fibrosis.
  
  • Cystic fibrosis (CF) is a genetic disease that usually affects the lungs and digestive system. How sick a person gets varies widely. There is no cure; most die by age 30.
  • CF is a recessive disease. A person who is a carrier has no symptoms.
    
    • While over 900 mutations have been found, about 25 are the major contributors.
    • The presence of the disease varies widely among ethnic groups.
  • Screening is recommended for individuals with a family history of CF, for partners of people with CF, for couples planning a pregnancy, and for couples seeking prenatal care. Testing for the general population is not recommended.
    
    • Screening for the 25 mutations is more cost effective than for 900 mutations.
    • Screening for the 25 mutations will identify carriers more accurately for ethnic groups that have the 25 mutations, and less accurately for ethnic groups with rare mutations.

1.  Would John encourage Kathy to get the test?  Why or why not?
2.  What other advice would John give Kathy?
3.  How might these decisions affect Kathy cognitively, psychologically, emotionally?