Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
22722694
TITLE
Using genomic data to make indirect (and unauthorized) estimates of disease risk.
ABSTRACT
The number of genetic factors associated with common human traits and disease is increasing rapidly, and the general public is utilizing affordable, direct-to-consumer genetic tests. The results of these tests are often in the public domain. A combination of factors has increased the potential for the indirect estimation of an individual's risk for a particular trait. Here we explain the basic principals underlying risk estimation which allowed us to test the ability to make an indirect risk estimation from genetic data by imputing Dr. James Watson's redacted apolipoprotein E gene (APOE) information. The principles underlying risk prediction from genetic data have been well known and applied for many decades, however, the recent increase in genomic knowledge, and advances in mathematical and statistical techniques and computational power, make it relatively easy to make an accurate but indirect estimation of risk. There is a current hazard for indirect risk estimation that is relevant not only to the subject but also to individuals related to the subject; this risk will likely increase as more detailed genomic data and better computational tools become available.
Copyright © 2012 S. Karger AG, Basel.
DATE PUBLISHED
2012
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2012/06/20
entrez 2012/06/23 06:00
pubmed 2012/06/23 06:00
medline 2012/11/01 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Nyholt DR Nyholt D R DR Queensland Institute of Medical Research, Brisbane, Qld., Australia. dale.nyholt@qimr.edu.au
INVESTIGATORS
JOURNAL
VOLUME: 15
ISSUE: 5
TITLE: Public health genomics
ISOABBREVIATION: Public Health Genomics
YEAR: 2012
MONTH:
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1662-8063
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Public Health Genomics
COUNTRY: Switzerland
ISSNLINKING: 1662-4246
NLMUNIQUEID: 101474167
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Alzheimer Disease genetics
Apolipoprotein E4 genetics
Base Sequence genetics
Female genetics
Genetic Predisposition to Disease psychology
Genetic Testing utilization
Genomics utilization
Humans utilization
Male utilization
Molecular Sequence Data utilization
Polymorphism, Single Nucleotide genetics
Risk Assessment genetics
Risk Factors genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Apolipoprotein E4
OTHER ID's