Disease risk is a family affair

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Musings on genome medicine: the value of family history”, a guest Musings article published this week in Genome Medicine, argues that genome sequencing will not supersede family history information in the assessment of disease risk any time soon.

Professor Angus Clarke emphasizes that while the potential for access to complete genomic information from healthy individuals as well as patients is useful for assessing some types of disease risk, it will not tell the full story for many years to come.  A complete genome sequence does not provide information about the many independent factors that can influence the effect of a given allele, such as modifier loci, epigenetic effects or environmental interactions, and consequently this sequence information cannot provide a secure basis for health care decisions.

This Musings article also highlights the importance of the family history in building a relationship between patient and clinician, and the insights gained into the individual’s emotional response to disease.  These issues must be considered in the development of regulations and guidelines for direct-to-consumer genomic tests.

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Assistant Editor, Genome Medicine