Alex was born two weeks early, but she is healthy. The delivery was uncomplicated and her mother, Eloise, is also well. A nurse from the newborn screening service comes to see Eloise and Alex. He offers Eloise a choice between standard newborn screening and the “new test”, called genomic newborn screening. He explains that genomic newborn screening tests for many more conditions than standard newborn screening. It also provides Eloise with the option of having Alex’s genomic data stored so it can be re-analysed in the future if new health-related questions arise.
Newborn screening is a public health initiative to identify newborns with serious yet treatable conditions before the onset of visible symptoms, to prevent irreversible damage or death.
In Australia, programmes for newborns screen for approximately 25 conditions by analysing the chemistry of blood collected in the first two days of life. But a technology called genomic sequencing, which reads the baby’s DNA, has the potential to look at many more conditions than current newborn screening. Incorporating genomic sequencing into newborn screening would mean more babies who are going to develop severe conditions could be detected earlier, leading to earlier interventions and healthier babies.
In 2022, the Australian Government awarded AUD$15 million in funding towards research into genomic sequencing of newborns.
At this stage, genomic sequencing cannot replace biochemical testing for all the conditions currently screened for. However, genomic sequencing could be added to current screening to help improve its accuracy, as well as expand the conditions able to be screened. And some lethal childhood-onset conditions can only be detected through genomic sequencing, such as a neurodegenerative disorder called Tay Sachs disease, for which a gene therapy is under development.
Another potential benefit of integrating genomics into newborn screening is that the data could be stored long-term, perhaps even for a lifetime. This would allow doctors and scientists to re-examine the data at different points in the baby’s life.
If baby Alex suddenly became ill and ended up in intensive care, scientists could quickly access and analyse the data from her DNA to try to find a genetic basis for the illness. The time saved by not having to sequence her DNA from scratch could make a huge difference in terms of Alex’s care.
It’s not just in response to illness that re-analysing the data could be helpful. Alex’s parents might benefit from knowing in advance if she is at risk of developing other conditions later in childhood, such as hereditary cancers. Eloise may think finding this out in the newborn period would be too confronting, so storing the information until she is ready could help.
Alex’s data could also be re-analysed in early adulthood to find out if she and her partner are at risk of passing on any genetic conditions to future children, or she may choose to find out her chances of developing an adult-onset hereditary cancer or cardiac condition.
However some have argued that genomic sequencing technologies are likely to improve over time and that babies sequenced now will need to be resequenced down the track. Although current confidence in the accuracy of this data is high, this may change over time. In the future, sequencing costs may even decrease so much that it will be cheaper to resequence a person’s data than store it for a lifetime.
The ability to store and revisit DNA data also raises questions about how, where, and by whom the data will be stored. Public trust in current newborn screening programmes is generally high and more than 99 percent of newborns are screened.
But research suggests that, worldwide, people are reluctant to share genomic data, often because their trust in those responsible for data storage and sharing is low. Therefore, introducing DNA screening and storage into newborn screening programmes may lead to reduced uptake and poorer health outcomes for babies. It also raises privacy concerns as, to be effective, genomic data would have to be stored in conjunction with personal and health-related information, which increases the risks to privacy compared to storage of de-identified data.
Storage of genomic data also raises issues relating to consent. For standard newborn screening, some have proposed storage is in the public interest and should therefore be automatic. Storing (de-identified) genomic data on databases accessible by scientists would increase their ability to find causes of genetic conditions for currently undiagnosable patients, which is also in the public interest. And if storage of genomic data is likely to provide medical benefit for individuals, a fair question is whether parents have a right to refuse DNA screening and storage on behalf of their children.
Storing and re-analysing genomic newborn screening data holds great promise for improving the health of individuals, their children, and people globally. But it also poses ethical issues and questions. These must be thoughtfully addressed to preserve public trust in a programme that has health at its heart.
Danya Vears is a senior research fellow and team leader at the Biomedical Ethics Research Group, Murdoch Children’s Research Institute in Melbourne, Australia. Danya is a social scientist with a genetic counselling background who uses both empirical and theoretical methodologies to explore the practical, social and ethical issues relating to the use of genomics in both clinical and research settings.
Christopher Gyngell is senior lecturer in biomedical ethics at the University of Melbourne and Murdoch Children’s Research Institute. His research explores the ethical implications of new technologies including genome editing, artificial intelligence, and human enhancement.
Originally published under Creative Commons by 360info™.
