Musings on genome medicine: the value of family history
TLDR
It is argued that the routine availability of genome sequence information on individuals will not render family history information obsolete, both because the taking of a family history has other uses for the health professional, and because genome sequence data on their own omit the effects of numerous factors important for modifying risks of disease.Abstract:
Will the routine availability of genome sequence information on individuals render family history information obsolete? I argue that it will not, both because the taking of a family history has other uses for the health professional, and because genome sequence data on their own omit the effects of numerous factors important for modifying risks of disease. These include information derived from factors downstream of genetic variants and from upstream epigenetic effects. Further difficulties arise with uncertainties relating to gene-gene and gene-environment interactions, which may take decades to resolve if their resolution is even possible.read more
Citations
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Dementia Entanglements in a Postgenomic Era
TL;DR: Using Alzheimer’s disease as an illustrative example, it is shown how population databases of AD cases on which individual risk estimates are based are faulty due to confusion about the AD phenotype.
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Idiopathic scoliosis: cracking the genetic code and what does it mean?
TL;DR: The question remains how future genetic testing and genomic profiling may be of aid in the therapeutic algorithms related to idiopathic scoliosis.
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"You don't have to keep everything on paper": African American women's use of family health history tools.
TL;DR: Although participants thought collecting FHH information was important and had positive reactions to both tools, the majority did not use the tools to write down information and instead collected FHH informally, underline the importance of separating the components of FHH collection behaviors to analyze the steps used in FHH creation.
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Secondary findings: How did we get here, and where are we going?
TL;DR: This paper will review the setting before the guidelines were published, and empiric research and discussion that has occurred since, to best approach the current state of secondary findings in genomic medicine.
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Computerized history-taking improves data quality for clinical decision-making-Comparison of EHR and computer-acquired history data in patients with chest pain.
David Zakim,Helge Brandberg,Sami El Amrani,Andreas Hultgren,Natalia Stathakarou,Sokratis Nifakos,Thomas Kahan,Jonas Spaak,Sabine Koch,Carl Johan Sundberg +9 more
TL;DR: In this paper, the authors compared the completeness and accuracy of medical history data collected and recorded by physicians in electronic health records (EHR) with data collected by computerized history-taking (CHT) for patients presenting to an emergency room with acute chest pain.
References
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Genetic family history questionnaire
TL;DR: A written questionnaire suitable for obtaining comprehensive genetic family data was developed and evaluated for its effectiveness in obtaining an accurate and complete family history.
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Breast-cancer risk in BRCA-mutation-negative women from BRCA-mutation-positive families.
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Response to correspondence on “Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening”
Adrian Smith,Marie Boyd,M Bulman,A Shenton,F Lalloo,D G R Evans,Anthony Moran,R Iddenden,Lorraine P. Smith,Emma R. Woodward,Eamonn R. Maher +10 more
TL;DR: Responses to the interesting comments concerning the paper on phenocopies in families positive for mutations in BRCA1/2 genes since its electronic publication in October 2006 are sent.
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