more_vert
The Eating Disorders Genetic Initiative (EDGI2) aims to identify the genes that predispose individuals to eating disorders to revolutionise future research into causes, treatment and prevention of the illness.
Eating disorders are a growing public health concern in Australia, affecting individuals across various demographics, with prevalences that have remained persistently high over the past decades. Recent research indicates that approximately 9% of Australian adolescents and young adults are affected by eating disorders, with anorexia nervosa, bulimia nervosa, and binge-eating disorder being the most commonly diagnosed conditions, with avoidant/restrictive food intake disorder (ARFID) gaining recognition. These disorders carry significant morbidity, with a concerning impact on physical and psychological health.
The mortality rates associated with eating disorders are among the highest of any psychiatric disorder. An estimated 10–15% of individuals with anorexia nervosa die from complications of the illness or suicide. This statistic underscores the dire consequences of untreated or inadequately managed eating disorders. Beyond mortality, the quality of life for individuals with eating disorders is often severely impaired, with long-lasting effects on emotional wellbeing, interpersonal relationships, and academic or occupational functioning.
Despite the significant burden of disease, treatment options for eating disorders remain suboptimal, with many individuals experiencing delays in diagnosis, limited access to specialised care, and challenges in managing co-occurring psychiatric conditions. The complex nature of eating disorders — characterised by a combination of genetic, psychological and environmental factors — has made effective treatments elusive. Thus, understanding the underlying mechanisms driving eating disorders is crucial in improving outcomes for those affected.
Research insights: the EDGI2 study
As researchers focused on the genetic underpinnings of eating disorders, we contribute to the Eating Disorders Genetics Initiative (EDGI2) study, funded by the National Institute of Mental Health. EDGI2 is a continuation of the previous EDGI study where we collected DNA from over 10 000 people with lived experience of eating disorders. Power calculations show that at least 100 000 people are needed for meaningful results. This new large-scale, international collaboration aims to achieve this sample size to uncover the genetic factors that contribute to the development of eating disorders, an area that has remained understudied compared to other mental health conditions. This will enable us to identify genetic markers that can help predict susceptibility to these disorders and, ideally, pave the way for more personalised treatment options.
The EDGI2 study builds on previous research that suggested a strong genetic component to eating disorders, with heritability estimates for anorexia nervosa and bulimia nervosa reaching upwards of 50%. This means that genetic factors play a significant role in determining whether an individual develops an eating disorder, alongside environmental triggers like societal pressures towards thinness or trauma exposures. Importantly, in the research to date by the EDGI program, we have already changed the understanding of the likely biological underpinnings of anorexia nervosa, demonstrating that is likely an illness that involves both psychiatric and metabolic genes. This finding has already had profound impacts on research agendas in eating disorders, played a role in destigmatising illness, and in the way it is received and treated in the health system. The strength of the EDGI2 study lies in its unprecedented scale and the breadth of its sample, which includes individuals from multiple countries and backgrounds. This breadth will allow us to examine genetic variation across different populations and determine whether certain genetic markers are universally associated with eating disorders or if they differ by geographic region or other characteristics.
Importantly, the field of genetic research is still in its infancy, and identifying robust genetic markers for complex psychiatric conditions like eating disorders is no simple task. One challenge is the interplay between genetics and environment: genetic predispositions may only manifest in the presence of specific environmental factors, making it difficult to isolate the effects of each. Additionally, the genetic variations we identify may only account for a small portion of the risk for eating disorders, meaning that other biological, psychological and social factors must be considered when developing comprehensive treatment approaches. Our goal is to fully evaluate both genetic and environmental factors to uncover ways in which these forces interact to increase risk for developing eating disorders.
Implications and next steps: moving forward in the treatment of eating disorders
The findings from the EDGI2 study could have profound implications for the future of eating disorder treatment. We anticipate that we will identify hundreds and maybe even thousands of genes that influence risk for eating disorders. Establishing an individual’s genetic risk profile could help us identify those at high risk of developing the illness and also predict the form the illness might take. This would allow for earlier interventions, potentially before the full onset of the disorder, and offer a more personalised approach to treatment. However, this is a long term goal, and much more research is needed to validate these findings and understand their practical applications in clinical settings.
In the immediate future, we believe there are several critical steps that need to be taken to address the current gaps in eating disorder treatment and care. First, we need to improve access to specialised care. Eating disorders are often treated by a variety of health professionals, including psychologists, dietitians and psychiatrists, but these services are not always readily available, particularly in rural and remote areas. Expanding access to these services, through telehealth initiatives and better funding for eating disorder programs, should be a priority.
Second, there needs to be greater public awareness of the genetic and biological factors that contribute to eating disorders. Too often, eating disorders are viewed solely as a consequence of poor body image or societal pressures, with less attention given to their complex genetic and neurobiological roots. Public health campaigns that educate both the public and health care providers about the genetic risk factors for eating disorders could help reduce stigma and encourage early intervention.
Finally, we would like to see more funding and support from the government and health services for research into the genetic and biological aspects of eating disorders. The EDGI2 study is an important step forward, but it represents just the beginning of what could be a revolutionary shift in our understanding of these conditions. As we continue to make strides in genetic research, we hope to see the development of more effective, targeted therapies that take into account an individual’s unique genetic profile, resulting in better outcomes for those living with eating disorders.
In conclusion, while there is still much work to be done, the EDGI2 study offers exciting prospects for improving our understanding of eating disorders and enhancing treatment strategies. By integrating genetic research with clinical practice, we can move towards a future where eating disorders are treated more effectively, with personalised approaches that address the complex biological and psychological factors at play.
Professor Nick Martin, Head, Genetic Epidemiology, QIMR Berghofer and Lead Investigator, Eating Disorders Genetics Initiative EDGI2, Brisbane
Professor Sarah Maguire OAM, Clinical Psychologist and Director, InsideOut Institute, and Co-Investigator, EDGI2, Sydney
Professor Cynthia Bulik, Distinguished Professor of Eating Disorders; Founding Director,
Centre of Excellence for Eating Disorders, University of North Carolina; Founder and Director, Centre for Eating Disorders Innovation at Karolinska Institute; Principal Investigator, EDGI2, North Carolina, USA and Sweden
The authors do not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and have disclosed no relevant affiliations beyond their academic appointment.
The statements or opinions expressed in this article reflect the views of the authors and do not necessarily represent the official policy of the AMA, the MJA or InSight+ unless so stated.
Subscribe to the free InSight+ weekly newsletter here. It is available to all readers, not just registered medical practitioners.
If you would like to submit an article for consideration, send a Word version to mjainsight-editor@ampco.com.au.
You can participate in the survey here https://redcap.qimrberghofer.edu.au/surveys/?s=W4WNXJXNY9JD447Y
Is it possible to participate as a volunteer in the EDGI2 study if you had/have an eating disorder?
I am fascinated to read this article, particularly because our 28 yo son has been diagnosed with ARFID and Emetophobia, recently resulting in a critical illness requiring hospital admission. He had starvation, and various vitamin deficiencies including scurvy, Vit D, and Vit K, all of which resulted in additional neurocognitive issues to his pre-existing ones. In SA, the eating disorders unit does not deal with people who don’t have body dysmorphia, hence he was cast adrift following discharge, and I’m still having to build a multidisciplinary team from scratch, to manage him. Our son has ASD, and various other developmental disabilities which may be related to a very rare genetic deletion, hence I would like to be connected with the Professor of Genetic Epidemiology to share detailed information which may be useful.