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Genomics4Newborns

Genomics for Newborns Exploring the legal, ethical, equity and economic implications of genomics in newborn screening.

Newborn bloodspot screening (NBS) programs are one the most effective and trusted population screening services in Australia. Almost all Australian babies – about 99% – are tested in the programs. Australia is now considering using genomic tests in the NBS programs to improve health outcomes for babies and their families.

The gEnomics4newborns: Research to integrate ethics and equity with effectiveness and economics for genomics in newborn screening project aims to develop new health technology assessment tools for easier evaluation of using genomics in the NBS programs. New health technology assessment tools will ensure the NBS programs remain equitable, effective, cost-effective and ethically-informed. The gEnomics4newborns research project is funded by the Medical Research Future Fund grant awarded in 2022. For more information, please visit the website.

A national Australian citizens' jury on using genomics in newborn bloodspot screening

Integrating genomics into NBS programs would represent a major technological advancement. As with any change in healthcare, it's crucial to assess the ethical, legal, and social implications of using genomics in these programs. This assessment must take into account the perspectives of all stakeholders, including the Australian public.

To gather these perspectives, the national Australian citizens’ jury on the use of genomics in newborn bloodspot screening will invite Australians to share their views on incorporating genomics into NBS programs. The jury will draft recommendations that will help guide policymakers in shaping the future of these programs.

The citizens' jury will take place from 9 March 2025 to 30 March 2025, involving a mix of online and in-person sessions where jurors will learn about the topic and engage in discussions. The in-person sessions will be held in Canberra.

Jurors will be selected through a democratic lottery process, managed by the Sortition Foundation, an independent specialist agency. Over 6,300 invitation packs will be distributed across Australia, covering all states and territories. From those who respond, an algorithmic system will select 30 participants to ensure the jury reflects Australia's diverse population. Selection criteria will include age, gender, ancestry, education level, state or territory of residence, urban or non-urban location, parental status, and whether they identify as living with a disability. Once the recruitment process is complete, further details about the jury's composition will be provided here.

The Question for the jury to answer

Since their inception, newborn bloodspot screening programs have relied on tests that measure the levels of specific natural chemicals in a baby’s blood. Recently, some states and territories have introduced genetic tests into their newborn bloodspot screening programs to detect a few additional health conditions. Now there are proposals to further integrate genomics into these programs.

The central question for the national Australian citizens’ jury on using genomics in newborn bloodspot screening is:

Under what circumstances, if any, should Australia use genomics in the newborn bloodspot screening program to ensure the program remains trustworthy and effective?

Information given to jurors

A key element of citizens’ juries is ensuring that jurors have the opportunity to learn about the topic before engaging in discussions and drafting recommendations. This support allows jurors to make well-informed recommendations on the given question.

For the national Australian citizens’ jury on using genomics in newborn bloodspot screening, jurors will receive a comprehensive booklet with detailed background information to assist them in their role. This booklet will be made available here before the jury begins.

In addition, experts will present information to help jurors understand genomics, newborn bloodspot screening, and other relevant topics. Jurors will have multiple opportunities to ask questions and seek clarification from these experts. After the jury concludes, the experts' presentations will also be available here. 

The presentations will cover the following topics:

  • Background information
  • Technical details
  • Policy considerations
  • First-hand experiences of rare genetic health conditions
  • Reasons why Australia may consider using genomics in newborn bloodspot screening
  • Concerns about using genomics in newborn bloodspot screening
  • Ethical, legal, and social implications of using genomics in these programs

Expert witnesses on the jury

Conjoint Associate Professor Kaustuv Bhattacharya (University of NSW) is a specialist at Sydney Children’s Hospitals Network. He is currently president of Australasian Society of Inborn Errors of Metabolism. He is passionate in novel treatments for rare conditions. He has published novel approaches to treat several metabolic diseases, some of which can be fatal in a baby’s first year of life. He participates in scientific advisory panels for national and international charities including Rare Voices Australia. He has been on Human Genetics Society of Australasia NBS advisory committee for over 10 years.

Conjoint Associate Professor Bhattacharya will present background information to the jury.

Professor Bennetts is a clinical scientist at the Children’s Hospital at Westmead. He has over 30 years of experience in diagnosing rare genetic disorders.  His department offers a range of molecular testing for many genetic disorders. He is currently leading a Medical Research Future Fund grant exploring the role of genomic sequencing in newborn screening.  His research team includes clinicians, pathologists, molecular geneticists, newborn screeners, genetic counsellors and midwives.

Professor Bennetts will present technical information to the jury.

Ms Louise Healy is Education and Advocacy Manager at Rare Voices Australia (RVA).  RVA is the peak body for Australians living with a rare disease and led the collaborative development of the National Strategic Action Plan for Rare Diseases. RVA's focus is policy and system advocacy, including newborn bloodspot screening expansion. Louise has more than 10 years of rare disease advocacy experience.

Ms Healy will answer the jury’s questions about child and parent experiences of rare health conditions and screening through the NBS programs.

Professor Zornita Stark is a clinical geneticist at the Victorian Clinical Genetics Services (VCGS) and Clinical Lead at Australian Genomics. She completed her medical studies at the University of Oxford. She trained in paediatrics at the Royal Children’s Hospital in Melbourne and in clinical genetics at VCGS. Professor Stark has lead numerous translational genomics projects through Melbourne Genomics, Australian Genomics, and the Genomics Health Futures Mission. All projects aim to accelerate rare disease diagnosis.

Professor Stark will present some reasons why Australia may want to use genomics in newborn bloodspot screening

Dr Kristen Nowak is Director, Population Health Genomics, Western Australian (WA) Department of Health. Her policy team aids translation of evidence-based genomic and screening technologies and knowledge into health systems. Nationally, Dr Nowak is a member, Health Technology and Genomics Collaboration; and Scientific and Medical Advisory Committee, Rare Voices Australia. Previously she was Chair, Newborn Bloodspot Screening Program Management Committee, and member, Standing Committee on Screening.

Dr Nowak will present the policy context to the jury.

Professor Kristi Jones is a clinical geneticist and leads the Department of Clinical Genetics at the Children’s Hospital, Westmead. Her clinical interests are broad, but include neurogenetics and preimplantation genetic testing. She is Clinical Professor at the University of Sydney and is an active clinical researcher. She has led clinical trials of advanced therapeutics in Duchenne muscular dystrophy since 2008, including recent gene therapy trial in 2-4 year old boys.

Professor Jones will present some reasons why Australia may be concerned about using genomics in newborn bloodspot screening.

Margaret Otlwoski is Professor of Law at the University of Tasmania and Director of the Centre for Law and Genetics. Her research expertise is in health law focusing on law and genetics/genomics including issues of regulation, privacy, consent, discrimination and data sharing. She is a Fellow of the Australian Academy of Law and Patron for Tasmanian Women Lawyers. She is also a Commissioner on the Tasmanian Voluntary Assisted Dying Commission.

Professor Otlowski will present some ethical, legal and social implications of using genomics in newborn bloodspot screening. She will present together with Professor Newson.

 

Ainsley Newson is Professor of Bioethics at the University of Sydney. She has 25 years of research experience in the ethical aspects of genetics, including a longstanding interest in newborn screening. Ainsley is interested in how genomics may be introduced at this life stage while also maintaining trust and effectiveness of the current screening program. A decade ago, Ainsley helped write Australia’s current newborn screening policy framework. She has two children.

Professor Newson will present some ethical, legal and social implications of using genomics in newborn bloodspot screening. She will present together with Professor Otlowski. 

Research team

For information on the research team delivering the gEnomics4newborns: Research to integrate ethics and equity with effectiveness and economics for genomics in newborn screening project, please refer to the  gEnomics4newborns project website.

The research team delivering the national Australian citizens’ jury on using genomics in newborn bloodspot screening :

  • Professor Stacy Carter – Chief Investigator, Lead facilitator
  • Associate Professor Chris Degeling – Co-facilitator
  • Diana Popic – Project management
  • Dr Yves Aquino – Project management, small group facilitator
  • Lucy Carolan – Project management, Participant support officer
  • Saniya Singh – Participant support officer
  • Dr Patti Shih – Small group facilitator
  • Belinda Fabrianesi – Small group facilitator
  • Kathleen Prokopovich – Small group facilitator
  • Emma Frost – Small group facilitator

Impact of the Jury

Please check back here after the jury has concluded to learn about its impact and outcomes.