This news item from the Telegraph highlights part of the new NHS 10-year plan. The claim is that “Advances will allow people to avoid fatal diseases and receive personalised health care”
“Wes Streeting, the Health Secretary, said the advances in genomics would allow people to “leapfrog” killer illnesses and receive “personalised” health care.
Within a decade, every newborn will undergo whole genome sequencing, which assesses the risk of hundreds of diseases. The advances aim to pave the way for an end to blanket screening and rudimentary health Measurements, Observations, and Tests (MOTs) that simply check for markers like high cholesterol and blood pressure after problems have become entrenched. A pilot scheme is starting this month.”
Guthrie testing
At present every baby is given a heel-prick blood test around day 3-5: originally the ‘Guthrie Test’ was a bacteriological test to rule out one genetic metabolic disease, Phenyl Ketonuria (PKU). Designed by American microbiologist, Robert Guthrie, in the 1960s, it was based on the finding that phenylalanine promoted the growth of Bacillus subtilis, so a drop of blood from a baby with PKU would enhance the growth of this organism, acting as a marker for the disease. It was hailed as the gold standard for any screening test which should comply with the following criteria:
Cheap and easy to perform test
High specificity and sensitivity ie low false positives and false negatives
The disease is treatable (in the case of PKU just by a diet low in phenyl alanine) and the outcome is greatly improved by early diagnosis (for untreated PKU average IQ is around 20, ie severe cognitive impairment with the child likely to be non-verbal and unable to achieve independence)
Since the 1960s, the Guthrie test has expanded to include tests for other inborn errors such as galactosaemia and conditions such as congenital hypothyroidism, which also readily fit the screening criteria of being serious, treatable conditions where the outcome is greatly improved by early diagnosis. Other genetic conditions such as Cystic Fibrosis and Sickle Cell Disease, took longer to introduce as the benefits of presymptomatic diagnosis took longer to establish.
The new proposals for performing a complete genome on every new baby born, is clearly in a totally different ball park than the current screening for a limited number of prespecified diseases.
Ethical questions
Returning to the Telegraph article, Laura Donnelly, their Health Editor, writes:
“The national rollout of genomics testing will be welcomed by many scientists, charities, doctors and patients’ groups but it is also likely to trigger an ethical debate.
Parents will be able to give consent, but it means their children will end up with information which some may not want to know – and which could change their future.
While current programmes focus on rare diseases – and can lead to prompt treatment or prevention of potentially fatal conditions – medical advances mean forecasts are likely to become far more detailed. This could mean children growing up knowing they have a much higher risk than normal of aggressive cancers or Alzheimer’s disease.”
The comments section as always provides a valuable glimpse of the readers’ views, who oddly enough do not share Mr Streeting’s enthusiasm for genomics and AI:
“Will you get life, health insurance etc. or spend your life worrying about something that you may not develop?”
“And be offered an exit strategy if the disease is too expensive. It has started now.”
“Quite a paradox when they've just legalised infanticide.”
“And then screening to be done before birth and the mother will be told of genetic disorders and abort the baby just before birth and hey presto, what a wonderful thing. NOT!”
“How many fast tracked to euthanasia and/or abortion prior to birth? Not to mention a ready made DNA database for a totalitarian government.”
“I bet there are some evil motives behind this BS about better health. Leave our kids alone! The medical fraternity has zero credibility as far as I am concerned.”
And the last one before DT closed the comments: “Why is it that socialism always leads to eugenics? Asking for a friend…”
Meanwhile, a first year junior doctor,Arya Kamyab, has reviewed the problems very clearly in an article for Medscape, The Ethical Minefield of Genetic Testing for All, showing much more maturity than many of those who advise governments, who seem to uncritically embrace any new technology with an often misplaced enthusiasm.
Data security
As Laura Donnelly points out, “There are also questions about the security of crucial data. Under the current programme, the baby’s DNA, health records and contact info are stored in the National Genomic Research Library, on secure UK cloud systems and data centres.”
In Ireland in 2009 a scandal arose when it was discovered that babies’ DNA samples had been retained going back to 1984 (!) and this led to a directive in Ireland also implemented in UK, New Zealand and a number of other countries, that all samples should be destroyed after 10 years, but by 2012 arguments about whether to destroy the samples were still ongoing. Scotland has also been wrangling with this issue for several years. There, the blood spot cards had been retained without parental permission dating right back to 1965, when the Guthrie test was first introduced, until 2003 when a consent requirement was added to the cards. In a report published in 2014, Guthrie Cards in Scotland: Ethical, Legal and Social Issues, these matters were addressed in detail but no clear decision was made and the samples were simply moth-balled. The issues were further explored by the Nuffield Bioethics group in 2019, but again with no clear decision being made. A public consultation was discussed as a bare minimum before making a decision on the retention and/or research use of this historic collection.
Interestingly on the other side of the world, there is controversy that adult blood samples taken with permission for a research project into SARS-CoV-2 were going to be destroyed as the company tasked with the project had run out of funds! In the end, after a public outcry, Queensland University has agreed to store the samples until more research funds can be identified.
Returning to the universal newborn genomic testing, Robert Dingwall, Professor of Sociology and past chair of the Bioscience for Society Strategy Panel, has written a challenging substack describing this as “a test in need of a use”.
Pfizer has been established about 175 yrs and has not cured ANYTHING
Cancer research has taken billions£ in donations over decades and still not cured cancer
Do I have confidence in the medical profession using a babies dna for good purposes? Err no.
The possible abuses have no limits!