Storing paediatric genomic data for sequential interrogation across the lifespan

Abstract

Genomic sequencing (GS) is increasingly used in paediatric medicine to aid in screening, research and treatment. Some health systems are trialling GS as a first-line test in newborn screening programmes. Questions about what to do with genomic data after it has been generated are becoming more pertinent. While other research has outlined the ethical reasons for storing deidentified genomic data to be used in research, the ethical case for storing data for future clinical use has not been explicated. In this paper, we examine the ethical case for storing genomic data with the intention of using it as a lifetime health resource. In this model, genomic data would be stored with the intention of reanalysis at certain points through one’s life. We argue this could benefit individuals and create an important public resource. However, several ethical challenges must first be met to achieve these benefits. We explore issues related to privacy, consent, justice and equality. We conclude by arguing that health systems should be moving towards futures that allow for the sequential interrogation of genomic data throughout the lifespan.

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits and Preferences for Implementation

“…Genomic sequencing has the potential to drastically increase the scope of existing NBS programs [12]. Including genomic sequencing in NBS programs could help to identify conditions that traditional biochemical screening cannot [7] and overcome some of the current limitations of biochemical screening in premature and unwell infants [23].…”

“…In some cases, the diagnostic testing is genetic in nature; such NBS programs typically follow a protocol of first-tier biochemical testing (commonly tandem mass spectrometry), followed by genetic or genomic sequencing as a second-tier confirmatory/diagnostic test as appropriate, such as for cystic fibrosis [5,8,9]. However, some countries are either considering or beginning to include genetic testing as part of the first-line testing in NBS for conditions, such as spinal muscular atrophy [10][11][12].…”