Centre for Ethics of Paediatric Genomics
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.
Group members
Professor Julian Savulescu
Professor Julian Savulescu trained in medicine, neuroscience, and philosophy and holds the Uehiro Chair in Practical Ethics at the University of Oxford where he directs the Oxford Uehiro Centre for Practical Ethics and the Wellcome Centre for Ethics and Humanities. He spends several months per year in Melbourne as Visiting Professorial Fellow in Biomedical Ethics at the Murdoch Children's Research Institute where he directs the Biomedical Ethics Research Group and Distinguished Visiting Professor in Law at The University of Melbourne. He has written over 400 publications and is a recognised world leader in practical ethics and the ethics of genetics. The University of Bucharest awarded professor Julian Savulescu an honorary doctorate in 2014 and, elected him a Fellow of the Australian Academy of Medical and Health Sciences in 2019.
Professor Lynn Gillam
An experienced clinical ethicist, Professor Lynn Gillam works in the Centre for Health Equity, in the Melbourne School of Population and Global Health at The University of Melbourne. She is also the Academic Director of the Children’s Bioethics Centre at the Royal Children’s Hospital Melbourne. At RCH, Lynn has been involved in over 200 ethics consultation since 2005. She also provides policy advice and leads research into a range of issues in paediatric clinical ethics. Professor Gillam became a Member of the Order of Australia for service to medical education in bioethics in 2019.
Associate Professor Zornitza Stark
A clinical geneticist at the Victorian Clinical Genetics Services (VCGS) and a clinical research fellow with the Australian Genomics Health Alliance. Associate Professor Zornitza Stark completed basic paediatric training at the Royal Children’s Hospital in Melbourne and advanced training in clinical genetics at VCGS before being appointed as a consultant at VCGS in 2011. Her main area of practice is paediatric genetics, with a special interest in the clinical application of genomic testing technologies for the diagnosis of rare genetic conditions. Associate Professor Stark completed a Master of Bioethics (Monash University) in 2012, and a Doctorate in clinical genomics (University of Oxford) in 2017. She leads the Australian Genomics Acute Care flagship, which provides ultra-rapid genomic testing to critically ill infants and children.
Dr Christopher Gyngell
Dr Christopher Gyngell is a Research Fellow in Biomedical Ethics. His research interests lie primarily in the ethical implications of biotechnologies and the philosophy of health and disease. Dr Gyngell was previously a Marie Sklodowska-Curie Fellow at the University of Oxford, where he led a project titled "Selecting, Creating and Modifying Embryos", which investigated the ethical and legal implications of the gene-editing technique CRISPR. The Australian National University awarded Dr Gyngell his PhD in Philosophy in 2015. Before undertaking his PhD, Chris completed a Master’s degree in Applied Ethics and an Honours degree in Genetics.
Dr Danya Vears
Dr Danya Vears is a Senior Research Officer at the Biomedical Ethics Research Group, Murdoch Children's Research Institute. She is a social scientist who explores ethical issues relating to genetic testing. Dr Vears completed her PhD in 2015 at the Melbourne School of Population and Global Health, the University of Melbourne, supervised by Professor Lynn Gillam. She then undertook a postdoctoral research fellowship at KU Leuven in Belgium under Professor Pascal Borry, which explored ethical challenges relating to genomic sequencing in the diagnostic setting. Her current main research interests include ethical issues associated with genomic sequencing in both clinical and research contexts, genomic newborn screening, and expanded carrier screening. She also has a Master of Genetic Counselling.
Dr Lauren Notini
Dr Lauren Notini is a Research Fellow in Biomedical Ethics at the Melbourne Law School, The University of Melbourne and an Honorary Fellow with the Biomedical Ethics Research Group, Murdoch Children's Research Institute. Her main research interests include paediatric bioethics, clinical ethics, empirical bioethics and the ethics of assisted reproductive technologies. Dr Notini is working on various projects, including those relating to transgender health, next-generation gene sequencing in paediatrics, elective children’s surgeries, and emerging assisted reproductive technologies such as mitochondrial replacement and in vitro-derived gametes. Before joining the Melbourne Law School, Dr Notini completed a 2-year postdoctoral fellowship in Clinical and Organizational Bioethics at the University of Toronto Joint Centre for Bioethics.
Associate Professor Mark Taylor
Mark Taylor is Associate Professor of Health Law and Regulation and Deputy Director of HeLEX at the Melbourne Law School, The University of Melbourne. Associate Professor Taylor focuses his research on regulating personal information with an emphasis on health information and genetic data. He is interested in the law of data protection and the common law duty of confidence and the reconciliation within both legal regimes of protections for privacy and public interest.
Associate Professor Ilias Goranitis
Associate Professor Ilias Goranitis is a Senior Health Economist within the Centre for Health Policy at The University of Melbourne and the Health Economics lead for Australian Genomics. His work focuses on exploring the value and cost-effectiveness of genomic technologies using health economic and discrete choice modelling methods. He is an alumnus of the London School of Economics and the University of Athens.
Our research
We bring together a multidisciplinary team of social scientists, healthcare professionals, legal researchers and health economists to carry out an innovative programme of research that will analyse the ethical, legal, social, and economic issues raised by genomic sequencing of children.
We focus initially on paediatric rapid genomic sequencing for critically ill children and investigate how Rapid Genomic Sequencing (RGS) can be successfully implemented into paediatric medicine. We conduct qualitative and quantitative research to better understand the impact of RGS on families, clinicians, and health systems and identify key ethical issues as they emerge in practice.
There is currently an absence of recommendations to help clinicians decide whether and how a diagnosis of a rare and potentially life-impairing condition should influence treatment decisions for a critically ill child. In a process known as ‘reflective equilibrium', we will apply ethical and legal principles to analyse key issues raised by RGS and combine this with the qualitative and quantitative data collected to develop practical, evidence-based advice and guidelines to improve policy and practice.
Families
We will explore the experiences of the families of critically ill children with the Rapid Genomic Sequencing (RGS) process. We interview parents of critically ill children who have undergone RGS. These interviews will explore parents’ experiences with informed consent, being offered additional findings, decisional regret, and receiving results. This research stream will also involve conceptual ethics work to address the ethical question of whether parents should be able to refuse RGS, which may be life-saving or otherwise clinically beneficial, for their critically ill children.
Clinicians
Our research stream investigates the impact of Rapid Genomic Sequencing (RGS) on clinicians involved with providing RGS to critically ill children.
- First, we will survey neonatal and paediatric intensive care clinicians (both in Australia and internationally) to explore their views and practices regarding using the results of RGS to inform treatment decisions.
- Second, we conduct interviews with genetic health professionals who provide RGS to critically ill children and their families. We ask Genetic health professionals about whether and how the RGS results have influenced the parents’ and treatment team’s decisions about the child’s medical treatment.
We will also ask parents about any cases where they have experienced moral distress relating to these treatment decisions or while providing RGS.
Health systems
Rapid Genomic Sequencing (RGS) generates large amounts of data, that can be used for other purposes such as genomic research. Health systems need to design policies regarding how data is stored, accessed and used (‘data governance models’). In this stream, we will explore the ethical and legal implications of different data governance models. We will investigate how ethical and legal frameworks can inform data governance, and what values drive people’s preferences for different governance models.
We hold qualitative focus groups with members of the Australian public to investigate their views and preferences regarding different data governance models for paediatric RGS. We will use the focus group data to develop further research. Understanding how members of the public weigh the moral values at stake in data governance (such as privacy, autonomy, collective welfare, and equity) will help guide policy decisions regarding the management of data produced from paediatric RGS.
Featured publications
Rapid Challenges: Ethics and Genomic Neonatal Intensive Care. PEDIATRICS 143 (Suppl 1): S14 - S21 (2019) PubMed Gyngell C, Newson AJ, Wilkinson D, Stark Z, Savulescu J.
Contact us
Centre for Ethics of Paediatric Genomics
Murdoch Children's Research Institute
The Royal Children's Hospital
50 Flemington Road
Parkville VIC 3052
Australia