52 Genetics and statistics

Statistical data can provide general information about how common a condition is, how many people have the condition, or how likely it is that a person will develop the condition. Statistics are not personalized, however—they offer estimates based on groups of people. By taking into account a person’s family history, medical history, and other factors, a genetics professional can help interpret what statistics mean for a particular patient.

Some statistical terms are commonly used when describing genetic conditions and other disorders. These terms include:

Statistical term Description
Incidence The incidence of a gene mutation or
a genetic disorder is the number of people who are born with the mutation or disorder in a specified group per year. Incidence is often written in the form “1 in [a number]” or as a total number of live births.
Prevalence The prevalence of a gene mutation or a genetic disorder is the total number of people in a specified group at a given time who have
the mutation or disorder. This term includes both newly diagnosed and pre-existing cases in people of any age. Prevalence is often written in the form “1 in [a number]” or as a total number of people who have a condition.
Mortality Mortality is the number of deaths from a particular disorder occurring in a specified group per year. Mortality is usually expressed as a total number of deaths.
Lifetime risk Lifetime risk is the average risk of developing a particular disorder at some point during a lifetime. Lifetime risk is often written as a percentage or as “1 in [a number].” It is important to remember that the risk per year or per decade is much lower than the lifetime risk. In addition, other factors may increase or decrease a person’s risk as compared with the average.

Use of Statistics Terms

  • About 1 in 200,000 people in the United States are born with syndrome A each year.
  • An estimated 15,000 infants with syndrome B were born last year worldwide.
  • Approximately 1 in 100,000 people in the United States have syndrome A at the present time.
  • About 100,000 children worldwide currently have syndrome B.
  • An estimated 12,000 people worldwide died from syndrome C in 2002.
  • Approximately 1 percent of people in the United States develop disorder D during their lifetimes.
  • The lifetime risk of developing disorder D is 1 in 100.

References

“Mutations and Health”by U.S. National Library of Medicineis in the Public Domain

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