Genomic medicine and data sharing

Abstract

Introduction: Effective data sharing does not occur in the UK despite being essential for the delivery of high-quality genomic services to patients across clinical specialities and to optimize advances in genomic medicine.

Sources of data: Original papers, reviews, guidelines, policy papers and web-resources.

Areas of agreement: Data sharing for genomic medicine requires appropriate infrastructure and policies, together with acceptance by health professionals and the public of the necessity of data sharing for clinical care.

Areas of controversy: There is ongoing debate around the different technical approaches and safeguards that could be used to facilitate data sharing while minimizing the risks to individuals of identification. Lack of consensus undermines trust and confidence.

Growing points: Ongoing policy developments around genomics and health data create opportunities to ensure systems and policies are in place to support proportionate, effective and safeguarded data sharing.

Areas timely for developing research: Mechanisms to improve public trust.

Keywords: clinical care; data sharing; genomics; policy.

Fig. 1

Example of how sequence variant data are recorded within the DECIPHER database. (a) An individual record of a sequence variant in the PAX2 gene. (b) A list of variants within genes and information related to the variant including associated phenotypes.