For a long time, the cause of child mortality has been widely unknown. Today’s modern diagnostics methods and DNA sequencing allow us to predict curable metabolic diseases and identify genetic disorders, but would you like to know if your beloved son is prone to develop an incurable condition?

The Human Genome Project is already 20 years old, and the advances in science and technology in that field have made enormous progress. So huge that in 2014 the United Kingdom launched a mass sequencing program called 100 Thousand Genomes which, among other advantages, has opened the door to the sequencing of newborns. The British government initiative, called Newborn Genomics Program, aims to sequence 200,000 newborns to screen over 400 known genetic diseases.

We have already addressed the topic of post-natal diagnosis on our website in the context of metabolic screening. Later, in September 2018, we also talked about the role of DNA sequencing in the identification of genetic diseases. In this second article, written just after the 100 Thousand Genomes project had been launched, we could only make hypotheses about the impact this technology may have on our lives. Today, the DNA sequencing of newborns is no longer a concept to discuss but a regular practice in the UK and beyond.

What are the advantages of DNA sequencing of newborns?

Access to complete genomic data of the newborn allows doctors to make a quick and accurate diagnosis of a genetic condition and treat it effectively. While not all genetic diseases are curable, some are at least treatable. Therefore, having insights into a child’s genome can be a real life-changer. Here are some examples:

  • Severe Combined Immunodeficiency (SCID), previously considered a death sentence, is a disease that suppresses the immune defense due to multiple gene mutations in leukocytes. Today, childhood genetic testing makes this condition curable if diagnosed early enough.
  • Mucopolysaccharidosis is a rare disease that, if identified on time, can be treated with stem cell treatment before it compromises the whole organism.
  • Xeroderma Pigmentosum is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. Although we cannot cure this disease, its early diagnosis helps prevent the child from experiencing severe problems with the eyes, skin, and nervous system simply by protecting them from sun exposure.

Genetic screening programs, currently available for newborns in the United States and the United Kingdom, involve routine tests of many genetic conditions based on the blood sample. Babies who experience complications a few weeks after birth undergo another round of more detailed genetic tests, including complete genome sequencing. Today’s trend is to expand genetic testing with sequencing to screen thousands of genetic diseases, but this practice opens up a debate and raises many questions.

What are the doubts?

Not all doctors are willing to run genetic tests among children because most genetic conditions are incurable. Parents are also reluctant to test their children for fear of cruel truth. The perspective of having a child incurably sick can be unbearable. Especially if they know this may occur when they are no longer in the capacity to help.  This is the example of the Hungtington disease, characterized by progressive brain degeneration and physical disability, which manifests only around the age of forty. Given the continuous progress in science, it is reasonable to believe that 40 years from now, we will find a remedy for most incurable conditions, including Huntington disease, but nobody can predict what the future holds.

The expansion of genetic databases has already immensely improved our knowledge and advanced medical research. Infant sequencing programs would add another piece to the puzzle facilitating the development of personalized and precision medicine for the benefit of us all.


Written by Federico Sebastiani.
Translated and adapted by Justyna Lisowska.

This post is also available in: Italiano


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