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Genet Med. 2014 Mar;16(3):231-7. doi: 10.1038/gim.2013.115. Epub 2013 Sep 5.

Risk estimates for complex disorders: comparing personal genome testing and family history.

Author information

1
1] Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada [2] Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada [3] Fetal Diagnostic Center, Kapiolani Medical Center for Women and Children, Honolulu, Hawaii, USA.
2
1] Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada [2] Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
3
1] Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada [2] The Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
4
1] Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada [2] Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
5
Molecular Structure and Function Program, The Hospital for Sick Children, Toronto, Ontario, Canada.
6
Centre for Computational Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
7
1] Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada [2] Department of Obstetrics and Gynecology, Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada.
8
Medcan Clinic, Toronto, Ontario, Canada.

Abstract

PURPOSE:

Personal genome testing allows the identification of single-nucleotide polymorphisms associated with an increased risk for common complex disorders. An area of concern in the use of personal genome testing is how risk estimates generated differ from traditional measures of risk (e.g., family history analysis). We sought to analyze the concordance of risk estimates generated by family history analysis and by personal genome testing.

METHODS:

Risk categorizations for 20 complex conditions included in Navigenics personal genome testing were compared with risk categorization estimates derived from family history assessment using the kappa (κ) statistic.

RESULTS:

The only conditions showing slight agreement between risk assessment methods were Alzheimer disease (κ = 0.131), breast cancer (κ = 0.154), and deep vein thrombosis (κ = 0.201) in females, and colon cancer (κ = 0.124) in males. Eighty-six individuals (11.4%) were found to have additional genetic risks not assessed by personal genome testing after family and medical history assessment, including 38 individuals with family histories suggestive of hereditary cancer syndromes.

CONCLUSION:

Discordance between personal genome testing and family history risk estimates suggests that these methods may provide independent information that could be used in a complementary manner. Results also support that eliciting family history adds value to overall risk assessment for individuals undergoing personal genome testing.

PMID:
24009002
DOI:
10.1038/gim.2013.115
[Indexed for MEDLINE]
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