Paolo Rossi Castelli 28 October 2021 6 min read

Will DNA mapping be the future for all newborns?

This UK pilot project involves 200,000 children. Its aim is early-stage diagnosis of rare genetic disease, but there are still a number of controversial issues to resolve.

Is it ethically sound and scientifically advisable to subject babies to a complete DNA analysis immediately after birth to discover any genetic diseases as early as possible?
The debate is underway, and in the U.K. and U.S.A. important projects involving hundreds of thousands of newborns are in the pipeline.

Proponents of full DNA mapping stress that a not inconsiderable percentage (estimated as 5 - 7%) of babies are born with a rare disease that in many cases can be treated, or even cure, if action is taken early. Usually, however, most hospitals perform a diagnosis during the first hours of life, or during pregnancy, only for a tiny number of diseases, due to extremely high costs and the time needed for genetic testing by traditional methods.

But now all this may change, as a result of Next Generation Sequencing techniques that can ‘decode’ entire genomes (an individual’s genetic makeup) in just a few hours, at a reasonable cost. Supporters of mass screening believe that having all genetic information available at birth brings great benefits and translates into considerable savings, as there will no longer be a need to treat disabilities and illnesses in later life.

Early studies in the U.K. and U.S.A.
With this principle in mind, Genomics England (a company created by the U.K. Department of Health and Social Care) has begun a pilot study on 200,000 babies, which will initially test for abnormalities associated with over 600 rare diseases, all of which are at least partially treatable. The DNA will also be stored to allow future research, for example into genetic predisposition towards tumours or into the effectiveness of specific medicines.

The U.S. is already thinking of launching a similar programme, initially to prevent or treat the most dangerous rare diseases (if possible), but the timeframe will be much longer.

In any case, according to Science magazine, the US and British projects have significant organisational differences that may have important consequences. In the U.K. everything is managed by Genomics England, a company that has been in operation for some time, with well-standardised criteria and every DNA sample will be taken, handled and stored in the same way by a network of interconnected laboratories, which follow stringent rules and limits, as regards confidentiality and ethics, on what is offered to families.

However, in the USA, each state will take care of testing independently, using private structures if it deems necessary, with the risk of a proliferation of different systems for decoding DNA. Ethical regulations could also vary a great deal with this kind of test management.

The debate is open
As part of this debate some experts have a great deal of doubt about the effectiveness of these tests, which can give the wrong results in more than one in ten cases, with evident risks of overdiagnosis, unnecessary treatments and worry for families. According to a survey in the JAMA Pediatrics journal, a large number of parents are not prepared to accept these kinds of preventative genetic screening.

In 2018 the US National Institutes of Health (NIH) issued a statement in which it stressed that widespread testing on all children is currently not advisable, because the effects of many mutations are as yet unknown and because numerous genetic diseases are untreatable. Many American patients’ and doctors’ associations believe that it would be much better to implement and extend already tried and recognised tests by speeding up procedures.

Those who support complete gene mapping for newborns counter these criticisms with other figures. For example, according to 23 studies, widespread genetic testing achieved early diagnosis of rare diseases in 36% of 1839 children (especially in newborns), with the possibility of treatment in 29% of cases, sometimes saving lives. “Gene sequencing –confirms Science – is becoming a new form of care for critically ill neonates”.


Paolo Rossi Castelli

Journalist since 1983, Paolo has been dealing with scientific divulgation for years, especially in the fields of medicine and biology. He is the creator of Sportello Cancro, the site created by on oncology in collaboration with the Umberto Veronesi Foundation. He collaborated with the pages of the Science of Corriere della Sera for several years. He is the founder and director of PRC-Comunicare la scienza.