Abstract #301316

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JSM 2003 Abstract #301316
Activity Number: 127
Type: Contributed
Date/Time: Monday, August 4, 2003 : 10:30 AM to 12:20 PM
Sponsor: Biometrics Section
Abstract - #301316
Title: Analysis of Familial Aggregation Studies with Complex Ascertainment Schemes
Author(s): Abigail G. Matthews*+ and Rebecca A. Betensky and Dianne M. Finkelstein
Companies: Harvard School of Public Health and Harvard School of Public Health and Massachusetts General Hospital
Address: 14 Cogswell Ave., Cambridge, MA, 02140,
Keywords: familial aggregation ; ascertainment bias ; quadratic exponential model
Abstract:

Familial aggregation studies are the first step in the identification of genetic diseases. If aggregation is found, more refined genetic studies may be undertaken. Complex ascertainment schemes are frequently employed to ensure that the sample contains a sufficient number of families with multiple affected members, as required to detect aggregation. For example, families may be sampled conditional on there being a mother-daughter pair in which both have disease. Adjustments must be made for ascertainment to avoid bias. Previous approaches have assumed independence of family history and selection as a proband, as well as a small probability of ascertainment and complete independence of disease and ascertainment. We propose adjusting for complex ascertainment schemes through a model for the joint outcomes of disease and ascertainment. This approach avoids the previous simplifying assumptions about the ascertainment process.

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