Table V.

Taxonomy used with participants (reflecting patient input and emphasizing severity and unpredictability)

Categories of Genetic Conditions		Do you wish to receive these results?
Conditions with significantly shortened lifespan		Everyone will receive
Most children do not live past early childhood, even with medical interventions
Tay-Sachs results in the gradual loss of movement and mental function. Infants develop increasing seizures, vision and hearing loss, and severe mental disability. Death usually occurs by age 4.
Serious conditions		□ Yes □ No
Most children will have medical problems that require regular medical visits, daily medications, carefully monitored diets, or surgeries; or will have serious problems with learning, vision, hearing or mobility. Children may have shortened life spans into early adulthood.
Duchenne Muscular Dystrophy causes gradual loss of muscle function, beginning at five years of age. Children benefit from wheel chairs, and medications can support breathing and cardiac function, but most people do not live past their 20s.
People with Phenylketonuria (PKU) follow a very restrictive low protein diet for life to avoid problems with learning and behavior.
Usher Syndromecauses severe hearing loss from birth and vision loss later in childhood. In adolescence, people develop night blindness and a gradual loss of peripheral (side) vision.
Batten Disease causes gradual loss of brain functions, beginning between 5–10 years of age with gradually worsening seizures, visual problems, and learning. Most children do not live past their teens or 20s.
Cystic Fibrosis affects the lungs and digestive system. People with CF require frequent doctor visits and typically take many medications. The average life expectancy is 35 years, but this continues to improve with new treatments.
Mild conditions		□ Yes □ No
Most children will have medical problems that require occasional extra medical visits, occasional medications, a slightly modified diet, or surgery; or will have mild problems with learning, vision, hearing, or mobility.
People with Ataxia with Vitamin E Deficiency develop clumsy hand movement, and reduced awareness of body positioning as older children. Later symptoms may include difficulty speaking and loss of some vision. These problems can be reduced with taking Vitamin E daily.
Ichthyosis is characterized by scaling of the skin, particularly on the neck, trunk and lower extremities. Typically this scaling improves with age and during the summer months. This condition typically does not affect intelligence or behavior.
Conditions with unpredictable outcomes		□ Yes □ No
It is difficult to predict the outcome for many children. Some children will have more serious versions but others will have more mild versions or no problems at all.
Gaucher Disease Type 1 causes degenerative bone disease and low blood counts. While some people develop symptoms in childhood others have few symptoms even as adults. For those who do have these symptoms, treatments can reduce symptoms.
Limb Girdle Muscular Dystrophy cause muscle weakness that affects the ability to walk and run. Some people are affected as children but others are not affected until adulthood. Some people lose the ability to walk within 10 years, but other people have less serious problems.
Conditions that begin as adults		□ Yes □ No
Few have any symptoms as children, but medical, behavioral, vision, or hearing problems may begin as adults.
Hemochromatosis causes liver, heart, and pancreas problems. The first symptoms typically begin between the ages of 30 and 50, and can be treated relatively effectively, if they even develop at all.
Alpha-1 Antitrypsin Deficiency causes emphysema (progressive breathing difficulty and a frequent cough) with symptoms typically developing after age 60 in non-smokers and after age 40 in smokers.