Using survival methods to estimate age‐at‐onset distributions for genetic diseases with an application to Huntington disease

Academic Article


  • Two important considerations in genetic disease are the risk of inheriting the gene for a disease and the age‐at‐onset distribution among those inheriting it. This paper describes the use of survival data analytic methods to estimate these entities. When a sample consists of children and/or siblings of affected individuals, standard lifetable methods such as Kaplan‐Meier techniques can be applied. The desired estimators are functions of the Kaplan‐Meier estimator and their properties are derived using the invariance principle and delta methods. A discussion of the underlying assumptions and estimators of standard errors and mean onset age are given. In an application to Huntington disease, the risk (± SE) of inheriting the gene for disease among children of a singly affected parent is estimated to be 0.499 ± 0.020 and the estimated mean onset age (± SE) is 45.6 ± 0.7. Copyright © 1989 Wiley‐Liss, Inc., A Wiley Company
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    Digital Object Identifier (doi)

    Author List

  • Cupples LA; Terrin NC; Myers RH; D'Agostino RB; Rao DC
  • Start Page

  • 361
  • End Page

  • 371
  • Volume

  • 6
  • Issue

  • 2