Boy with DNA strand toy

To develop a framework for the effective and ethical implementation of paediatric genomic sequencing, particularly rapid genomic sequencing of critically ill infants, in the Australian healthcare system.

What is genomic sequencing?

Every cell in your body contains a genome. Your genome is the collection of every gene you have, thousands of genes, bundled up into tiny packages in every cell. Genes carry some information about who you are and how you will develop, things like whether you’ll be tall or short, the colour of your eyes, and maybe whether you’ll be sick. 

Genes don’t tell us everything about you, but there are some diseases that are caused by genes. We know these as genetic disorders and they can often pass these disorders down through families, but can sometimes happen randomly.  

Genomic sequencing is when we look at all your genes and we try to see if we can find anything that might make you sick. Members of our team are doing this for very sick infants in the hospital. In these cases, time is of the essence. We try to do these tests as quickly as possible. We know this as rapid genomic sequencing.

Our mission

As the world’s first ethics research centre specifically devoted to ethical issues in paediatric genomics, our mission is to:

  • understand the impact of genomic sequencing on families, clinicians and health systems
  • examine ethical issues associated with paediatric genomic sequencing
  • engage the public in paediatric genomic sequencing
  • develop evidence-based advice and guidelines
  • improve policy and practice.

Why do we do genomic sequencing?

Genetic diseases are the leading cause of death in infants in developed countries. Rapid Genomic Sequencing (RGS) can diagnose genetic conditions in a matter of days; until recently, this process often took years. Sometimes, a diagnosis through rapid genomic sequencing can identify a problem that has an effective treatment. In other cases, it means we don’t need to spend months trying to figure out a puzzle. This can save pain and unnecessary anxiety, as well as use fewer medical resources.  

What are the ethical issues?

Rapid genomic sequencing has the potential to transform how we approach healthcare. There could be a lot of benefits. However, as with any new healthcare technology, it’s important to think carefully about how we should use it. Rapid genomic sequencing of infants presents several ethical issues. Our goal is to understand these issues and think about how we might manage them. 

For example, a very early diagnosis can impact how a parent views their baby. Sometimes, when parents receive a diagnosis very early, they decide they don’t want the doctors to do certain treatments, or they might decide to give their baby up for adoption. These things might be different if parents spend a longer time with their baby before they receive this news.

Rapid genomic sequencing can produce a lot of information. Once we’ve sequenced a baby’s genome, we know about all of her genes, not just the ones relevant to her disease. At first, this might sound like a good thing, but it might have drawbacks. For example, if we found out a child had a different disease that was going to make her sick as an adult and there was nothing we could do, should we tell her parents now? Is it right for a child to grow up knowing that she’s going to get very sick, or is she better off not knowing until she is older and can understand it better? 

We also need to think about whether rapid genomic sequencing differs from other ways to diagnose a disease. Usually, we need parents to say yes if we want to do genetic tests on their children. However, we don’t ask parents every time we need to save a baby’s life. Rapid genomic sequencing can save lives. Should we ask parents every time? What should we do if parents say no? 

These are just some of the ethical issues that are raised by rapid genomic sequencing in infants and children. We need to address these to ensure that sick children and their families experience the best care. If we don’t think carefully about these issues, we might not deliver the promises of rapid genomic sequencing.