Could a Baby's Heel-Prick Test One Day Reveal a Risk of Cancer?

What two 2026 studies, from Michigan (Diller and colleagues) and from Qingdao, China (Huang and colleagues), tell families about reading newborns' genes for inherited cancer risk

Scientists are exploring whether the heel-prick blood test that nearly every newborn already has could also look for rare inherited gene changes that raise a child's chance of cancer. A Michigan study suggests that about 1 baby in 27,000 carries such a change and goes on to develop cancer in early childhood, while a Chinese study found that about 5 in every 100 healthy babies carry a gene change that guidelines say is worth reporting, mostly linked to adult health.

A few days after birth, a nurse pricks your baby's heel and places a few drops of blood on a card. That small card is tested for a list of rare but serious conditions, and it is one of the quiet success stories of modern medicine. Today the same drop of blood can also be used to read a baby's genes, the instructions inside every cell. That raises a question families may soon be asked: should newborn screening also look for genes that raise the chance of cancer? Two research teams, one in the US state of Michigan and one in the Chinese city of Qingdao, have now gathered some of the first large-scale evidence to help answer it [1][2].

How families used to learn about inherited cancer risk

Most children who develop cancer do not have an inherited cause. But in a minority, a change in a single gene, often passed down from a parent, greatly raises the chance of a particular cancer. A large study of young people treated at a major US children's cancer hospital found such inherited changes in about 8 or 9 in every 100, and most of their families had no history of cancer that would have raised suspicion [3]. A study at a children's hospital in Houston found a similar share, about 10 in every 100 children with solid tumours [4]. Until now, families usually found out only after a child became ill, or because a relative had already had cancer.

When doctors did know early, it could make a real difference. In the Netherlands, babies known to be at risk of retinoblastoma, an eye cancer of young children, were examined from their first weeks of life; most tumours were found while still tiny, and nearly 9 in 10 children kept good long-term vision [5]. Experts now estimate that about 45 in every 100 children with retinoblastoma have an inherited form [6]. For families with Li-Fraumeni syndrome, an inherited condition caused by changes in a gene called TP53, regular check-up scans found tumours early, and about 89 in 100 people were alive five years later with check-ups compared with about 60 in 100 without them [7]. Children with harmful changes in a gene called RET can have their thyroid gland removed before cancer starts [8]. In 2021, a computer model estimated that testing every newborn for 11 such genes could prevent some childhood cancer deaths [9]. But nobody had checked, in real children, how often such a test would actually find something.

At the same time, several countries began trying genetic newborn screening: across eight screening centres in China [10], in six New York City hospitals in the Genomic Uniform-screening Against Rare Disease in All Newborns (GUARDIAN) study [11], in a hospital maternity ward in Belgium through BabyDetect [12], and in Victoria, Australia, through BabyScreen+ [13]. Separately, the American College of Medical Genetics and Genomics (ACMG), a professional body of genetics experts, keeps a list of genes worth reporting whenever someone's genes are read for another reason. Its latest version has 84 genes, many linked to illnesses of adulthood [14][2].

Looking back: children in Michigan who developed cancer

Michigan keeps leftover newborn blood cards for research. Diller and colleagues found 1,948 children born in Michigan between 1987 and 2020 who developed a solid tumour or a brain tumour before their eighth birthday, and tested the DNA from each child's stored newborn card for harmful changes in 11 genes [1]. It is important to know that this study looked backwards: none of these babies were actually screened at birth, and no family received results when their child was a newborn.

The team found that 132 of the 1,948 children, about 7 in every 100, had a harmful gene change that the blood card could have revealed. Spread across all the babies born in Michigan with a stored card, that works out to about 1 baby in every 27,000. To put that in perspective, the researchers point out that this is about as common as, or more common than, some conditions newborn screening already looks for, such as Pompe disease, a rare inherited condition (about 1 in 18,000 babies), or severe combined immunodeficiency, a serious immune problem (about 1 in 59,000).

The gene changes were concentrated in certain cancers. All 6 children who developed medullary thyroid cancer had a change in RET. Of 168 children with retinoblastoma, 68 (about 4 in 10) had a change in a gene called RB1, rising to 41 of 51 (8 in 10) among children with cancer in both eyes. For some of the more common childhood tumours, such as Wilms tumour of the kidney and neuroblastoma, the test would have found very few. Children with a gene change tended to be diagnosed younger, at about 14 months of age compared with 32 months. For comparison, among more than 38,000 babies in other genetic newborn screening studies, only 2 were found to carry a change in one of these childhood cancer genes [1].

Looking forward: healthy newborns in Qingdao, China

Huang and colleagues took the opposite approach [2]. They read the complete genetic code of 6,685 healthy newborns in the city of Qingdao, taking part in the 10 K Newborn Genome Screening Project (QDnewborn), and checked the 84 ACMG genes. About 5 in every 100 babies (338 newborns) carried a gene change that the guidelines say should be reported. Most were in genes linked to heart and blood vessel conditions (about 3 or 4 in 100) and cancer risk (about 1 in 100), and the most common cancer gene was BRCA2, known for inherited breast and ovarian cancer risk. Among the findings that guidelines say should be reported, the most common gene was LDLR, which causes inherited high cholesterol. This is one finding where acting in childhood clearly helps: in a Dutch study, children who took cholesterol-lowering medicines called statins from childhood had far fewer heart problems by their late thirties than their affected parents [15]. The childhood cancer genes from the Michigan study were rare in Qingdao, with no reportable RB1 changes at all. The team also found that some gene changes are much more common in Chinese babies than in people of European ancestry, and the other way round.

What these numbers do and do not mean

These numbers are easy to misread, so a few points matter. The "7 in 100" from Michigan describes children who already had cancer, not all babies; among all newborns, the figure is about 1 in 27,000. Carrying a gene change is not the same as having a disease: studies of adults show that many people with such changes have no signs of the related illness [16], and the Chinese study did not follow the babies to see what happened to them. In Michigan, children with retinoblastoma who carried an RB1 change showed no clear difference in survival from those who did not, although among children with other cancers, those carrying a gene change did less well. A somewhat higher rate of second cancers among children with gene changes could have been due to chance. Because the Michigan children were mostly White and the Qingdao babies mostly of Northern Han Chinese ancestry, results may differ in other communities. Several of the Chinese researchers worked for the genetics company involved in the study [2].

What this could mean for families

If cancer genes were ever added to newborn screening, a positive result would usually lead to regular check-ups rather than treatment: eye examinations and brain scans for RB1, ultrasound scans of the tummy, kidneys or liver for several other genes, and, for RET, possibly early removal of the thyroid [1][8]. The Michigan team was open about the downsides: worry for families, the burden of frequent tests for young children, and the chance that uncertain results lead to unnecessary procedures. Gene changes linked to adult illnesses raise further questions [17]; the Chinese researchers themselves note that experts still debate whether this takes away a child's own future choice about whether to know [2]. Sometimes such findings help parents instead: in the BabySeq Project, a research study of genetic testing in newborns at hospitals in Boston, some families learned about their own risk, and three relatives chose surgery to lower their cancer risk [18].

For now, this is research. Neither study changed how babies are screened, and parents do not need to do anything differently. If your family has a history of cancer in childhood, your baby's doctor or a genetic counsellor can talk with you about whether testing makes sense.

What researchers are working on next

The next step is to offer screening for a small, carefully chosen set of childhood cancer genes to newborns, with parents' consent, and then follow those babies to see whether early check-ups really lead to earlier diagnosis, gentler treatment, better vision and longer lives. Researchers also want to build gene lists that suit each population, learn how often gene changes actually lead to illness, and work out what screening would cost. You can read more about genetic newborn screening in our article on the GUARDIAN study at https://inneosight.org/en-US/articles/guardian-genomic-nbs2025.

References

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  2. Huang Y, Gao Y, Duan Z, et al. Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns. NPJ Genom Med. 2026;11(1):29. doi:10.1038/s41525-026-00565-0 ↩
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