The UK could become the first country in the world to offer whole-genome sequencing for every baby if a proposal to reform newborn screening is approved.
Scientists said that the initiative appeared to be designed to create a valuable health dataset rather than an effective method of improving the diagnosis of rare diseases.
Anneke Lucassen, director of the Centre for Personalised Medicine at the University of Oxford, said that if the primary objective were improving newborn screening, there were alternative, more targeted tests that would be cheaper and potentially more reliable.
She said that if it was all aboutdiagnosing more conditions, you could do that through other means. It's about helping to build the genomics industry in the UK and it's about creating a research resource so we can study people as they grow older.
Lucassen said she was not opposed to the pilot, but wanted more transparency because it was sold as something that was not the full picture. The public needs to know that.
All babies receive a five-day "heel prick" test to detect nine serious health conditions, including cystic fibrosis, but if the genomes of all newborns were analysed, it would be a huge upgrade.
The plan was mentioned in the chancellor's October budget speech as part of a £5 billion commitment to health research, with a suggestion that more than 200 conditions could be screened for.
Genomic England would add babies' genomes and health data to its research database in the pilot, allowing academics and industry scientists to use it for pre-competitive research.
The UK's approach to genetics was welcomed by some who said it would play an increasingly important role in healthcare in the future.
Prof Sir Peter Donnelly is the chief executive of Genomics and a professor of statistical science at the University of Oxford. The newborn screening programme is one step in that direction.
The public was supportive of the plans during the public consultation. Geneticists are concerned that there isn't enough clarity about the potential for more targeted tests of specific genes to work just as well or better.
If you want to improve newborn screening to improve newborn health, this isn't how you'd do it, says Prof.Caroline Wright.
The proposal to expand the number of conditions screened for was being put off because it was a national priority. He said this could delay the introduction of tests for conditions such as spinal muscular atrophy for which new treatments exist that can protect babies before symptoms appear.
There are questions about the risk of false positives. Whole-genome sequencing has been used to diagnose rare conditions in the past. It is more difficult to predict disease based on the genome of healthy babies than it is to predict disease based on other factors.
A recent trial in California found that genetic testing would result in a sixfold increase in false positives for metabolic disorders.
Predicting the risk of common health conditions such as heart disease and diabetes in adulthood is the greatest healthcare value of such data. He said that the consent process for obtaining genomic data in newborn babies was complicated.
Simon Wilde, the engagement director for Genomics England, said: "We recognise the uncertainty of knowing what the exact benefits might be, which is why we are doing the research pilot to gather the evidence." The public, patients and potential participants in the programme will be the ones to lead the planning and research for the pilot. We want to do this at the right pace, so we are not rushing into it.
