Should we sequence the DNA of every baby born in Australia? You will soon be able to express your opinion

Within a few days birth, over 300,000 Australian children a year have a blood sample analyzed to detect a number of sedate but treatable conditions.

The purpose of this newborn blood screening test is to detect babies at risk of disease and provide early intervention. These are conditions that can cause sedate harm to your baby if left untreated in the first days or weeks of life.

ABOUT one in 1000 children (or about 300 per year) are diagnosed with one of these diseases that would otherwise go undetected.

Australian screening program – which reaches about 99% newborns – mainly uses tests that measure the level of specific biochemical substances in the child’s blood. As part of the program, genetic testing (sequencing of a miniature amount of DNA) is used to a constrained extent.

However, as genetic technologies improve, researchers are discussing options for updating the screening program. This could include sequencing the DNA of every baby born.

This is just the beginning and we don’t yet know what an updated screening program might look like. But in a few months we will ask Australians for their opinion.

Recommendations from this research project will be presented to all health ministers and will directly inform how we can apply genomics in newborn screening in Australia.

Why are we talking about this?

Progress in genomics (the methods we apply to sequence some or all of our DNA) and reductions in the time and cost of sequencing mean that it will now be possible to apply genomics to screen newborn bloodstains.

We don’t know exactly how this could happen. One approach, however, is to apply genomics and existing biochemical tests.

This could potentially identify up to 1000 more diseases than the current program.

Using genomics to detect additional conditions could mean earlier diagnosis and treatment for more children and their families. It may also prompt relatives to get tested to see if they are also at risk or could pass the disease on to future children.

Although neonatal genomics has not yet been implemented in any country, many research projects exist all over the world AND in Australia are exploring different approaches to its apply.

Balancing benefits and risks

Challenges lie ahead. We must balance the potential benefits for the less than 1% of Australian babies diagnosed early through newborn screening and their families with the potential risks for all newborns screened and their families.

The apply of genomics in newborns raises critical economic, ethical, legal and equity issues worries.

Baby DNA sequencing can reveal more about the newborn and his or her loved ones than conventional biochemical tests.

For example, genomics can reveal conditions for which there is no cure, conditions that a child may develop in adulthood, or conditions that a child will not develop but may pass on to their children.

Genomics can detect less sedate conditions and genetic changes where we cannot tell how sedate the disease will be or how ancient the child will be when symptoms appear.

Genomics can detect genetic changes that do not cause disease, meaning the child would be unnecessarily treated or monitored.

Genomics also provides a huge amount of information that we don’t fully understand yet, so it can’t be used to facilitate your child.

The apply of genomics could lead to much more testing, genetic counseling and treatment. This would require significant additional health care resources, perhaps more than the health care system currently has.

We also need to ensure that all health care professionals caring for newborns and their families understand the benefits and limitations of genomics and the information it generates.

Questions we need to answer

Genomics could change the way newborn blood screening works in Australia. But first there are some critical questions you need to answer, including:

1. How much DNA should we sequence? All DNA (referred to as whole genome sequencing), or just part of the DNA (for example, specific genes)?

2. What results should we give to parents? Should we report everything we find, or only findings that may facilitate treat the child?

3. Are required health services available to all newborns? Conditions detected during newborn screening require specialized health care that may not be available everywhere. Some families may also have difficulty accessing care due to where they live, language barriers or socioeconomic factors.

4. What happens if there is no intervention for a specific health condition? Currently, less than 10% of occasional diseases occur effective treatment.

5. What data will be stored? How can we ensure the privacy and security of genome sequence data or screening results while enabling appropriate access to guide clinical care?

6. Will the information be used for other purposes? This information can be used for many other purposes, such as predicting a child’s likelihood of developing certain health conditions as an adult, for medical research, or for legal investigations into relatives.

7. How should we work with families to facilitate them make the right decision? How should families engage in screening? How do we balance the fact that newborn blood screening is typically encouraged with the inherent uncertainty of many genomic results?

8. How much will it cost? Are the additional costs of using genomics in newborn blood screening a good apply of taxpayer money?

You could express your opinion

Apart from the question “How Are we using genomics in newborns?” we have to ask “should do we apply genomics in newborns?”

As part Australian research projectthis year we will be leading a jury of Australian citizens looking into genomics for newborn blood spot screening.

Approximately 6,000 households across Australia will be randomly selected from the Australia Post database. They will be invited by post at the end of January to participate in the jury. You may get invited, so watch your email.

Of those who respond, 30 people will be selected to represent the diversity of Australians in terms of gender, age, background, education, place of residence and parental status. In March 2025, through online sessions and a face-to-face meeting in Canberra, they will review the issues we have described and develop recommendations on what we should do.

The apply of genomics in newborn screening is critical for everyone. Even if you do not plan to have children, the Australian healthcare system will have to cover any future healthcare costs associated with the screening program, its implementation and outcomes.

That’s why it’s so critical that we understand the views of the general public, as well as scientists, health professionals and policymakers.