Genetic information in medicine: Its generation, significance, and use

Livesey, Helen and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2025. Genetic information in medicine: Its generation, significance, and use. Schramme, Thomas and Walker, Mary Jean, eds. Handbook of the Philosophy of Medicine, Dordrecht, Netherlands: Springer, pp. 365-386. (10.1007/978-94-024-2252-8_13)

Full text not available from this repository.

Abstract

“Genetic information” may refer to information about a person’s family history, raw DNA sequence data, or an interpretation derived from the raw data. This chapter addresses what counts as genetic information, especially about humans, and the limitations on what can be known. Family history provides information relating to risk of disease without genetic testing. Genetic linkage studies provide information about the co-localization of a disease-related gene and a nearby marker on a chromosome. Tracking the marker can indicate whether someone has inherited the corresponding disorder. In contrast, association studies are performed on large populations and identify many dispersed genetic factors that influence the chance of developing complex diseases. Confidence in the accuracy of individual predictions based on linkage studies is often very high, while genetic association studies provide information that applies robustly to a population but not so readily to individuals. Further, predictions based on linkage analyses are open to improvement through the identification of errors, while such feedback is not feasible with polygenic scores applied to individuals from association studies. The distinction between “raw data” and “information” is fuzzy: when does data become information? The high-throughput methods now in use require an interpretive step based upon sequence information and an accumulated body of knowledge from other individuals of known phenotype in order to draw any useful conclusions from a person’s genetic constitution. Some variants will be assessed as of Uncertain Significance (VUSs). This raises the question of future reanalyses and reinterpretations of such VUSs or genome sequence data in general. In addition, unsought information may be found concerning risks of other diseases or of misattributed relationships within a family. Developments in DNA sequencing have led to an explosion in genome sequence data. Ownership of individuals’ DNA sequence is probably an unhelpful concept, but access to such information and control of how it is applied is important and may be subject to legislation.

Item Type:	Book Section
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Publisher:	Springer
ISBN:	9789402422511
Last Modified:	13 Jan 2026 12:46
URI:	https://orca.cardiff.ac.uk/id/eprint/183834

Actions (repository staff only)

Edit Item