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The Centre for Ethics of Paediatric Genomics (CEPG)
The Centre for Ethics of Paediatric Genomics (CEPG) is the world’s first ethics research centre specifically devoted to ethical issues in paediatric genomics.
Our mission is 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.
We are based at the Murdoch Children’s Research Institute at the Royal Children’s Hospital, in Parkville, Victoria.
- Understand the impact of genomic sequencing on families, clinicians and health systems
- Examine ethical issues associated with paediatric genomic sequencing
- Engage the public in the issue of paediatric genomic sequencing
- Develop evidence-based advice and guidelines
- Improve policy and practice
Genomic sequencing in children
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 or not you’ll be sick.
Genes don’t tell us everything about you, but there are some diseases we know are caused by genes. These are known as genetic disorders. These disorders can often be passed 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 be making 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. This is known as rapid genomic sequencing.
Why do we do this?
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 using 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 a number of 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. In some cases, when parents receive a diagnosis very early, they decide that 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 is different from other ways to diagnose a disease. Usually, we need parents to say yes if we want to do genetic tests of their children. However, we don’t ask parents every time we need to do something 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, the promises of rapid genomic sequencing might not be delivered. This is why what CEPG is doing is important.
Professor Julian Savulescu is 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 Melbourne University. He has written more than 400 publications and is a recognised world leader in the field of practical ethics and the ethics of genetics. He was awarded an honorary doctorate in 2014 by the University of Bucharest and in 2019, was elected as Fellow of the Australian Academy of Medical and Health Sciences.
Professor Lynn Gillam is an experienced clinical ethicist. She is a Professor in the Centre for Health Equity, in the Melbourne School of Population and Global Health at the University of Melbourne. Lynn 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. In 2019, Lynn was made a Member of the Order of Australia for service to medical education in the field of bioethics.
Associate Professor Zornitza Stark is a clinical geneticist at the Victorian Clinical Genetics Services (VCGS) and clinical research fellow with the Australian Genomics Health Alliance. Zornitza 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. Zornitza 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 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. Chris 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. Chris was awarded his PhD in Philosophy from the Australian National University in 2015. Before undertaking his PhD, Chris completed a Master’s degree in Applied Ethics and an Honours degree in Genetics.
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. Danya completed her PhD in 2015 at the Melbourne School of Population and Global Health, 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 is a Research Fellow in Biomedical Ethics at the Melbourne Law School, 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. Lauren 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, Lauren completed a 2-year postdoctoral Fellowship in Clinical and Organizational Bioethics at the University of Toronto Joint Centre for Bioethics.
Mark Taylor is Associate Professor of Health Law and Regulation and Deputy Director of HeLEX at the Melbourne Law School, University of Melbourne. His research is focused upon the regulation of personal information with emphasis upon 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 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 University of Athens. More information about Associate Professor Goranitis’ work is available here.
CEPG brings 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. CEPG will focus initially on paediatric rapid genomic sequencing for critically ill children and investigate how RGS can be successfully implemented into paediatric medicine. CEPG will 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. Each of these three main streams is summarised below.
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’, CEPG 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.
We will explore the experiences of the families of critically ill children with the RGS process. We will 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.
This research stream investigates the impact of 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 will conduct interviews with genetic health professionals who provide RGS to critically ill children and their families. Genetic health professionals will be asked about whether and how the RGS results have influenced the parents’ and treating team’s decisions about the child’s medical treatment. They will also be asked about any cases where they have experienced moral distress relating to these treatment decisions or while providing RGS.
RGS generates large amounts of data, which could be used for other purposes (e.g. in genomic research). Health systems need to design policies regarding how these data are 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. Qualitative focus groups will be held 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.