Hundreds of lives could be saved every year after the government announced plans for the world’s largest genetic screening program for infants.
The £175 million project, which will begin late next year, will sequence the genomes of 100,000 newborns to look for genetic defects associated with more than 200 unusual conditions, including rare genetic disorders of thyroid hormones.
They cannot be detected with the standard NHS heel prick test, which detects nine rare conditions, including sickle cell anemia and cystic fibrosis.
The NHS and Genomics England, who are jointly leading the project, hope this will speed up the diagnosis of rare genetic diseases in newborns, potentially saving the lives of hundreds of children a year.
The program will assess the feasibility and effectiveness of using whole genome sequencing (WGS) to diagnose more than 200 genetic diseases affecting approximately 3,000 newborns in the UK each year and will accelerate access to treatment.
It will focus only on conditions that affect children from birth to five years of age and can be effectively treated, such as biotinidase deficiency, a rare condition in which the body cannot break down biotin, one of the B vitamins, and process pyridoxine. Dependent epilepsy is a rare condition that, if left untreated, leads to uncontrolled seizures and developmental delay.
Which parts of England and which hospitals will take part in the study remains to be determined. But the parents of every baby born at a participating hospital have the opportunity to have their baby’s genomics analyzed during pregnancy.
The program is voluntary and runs in parallel with the ongoing heel test. In a newborn blood smear, a small sample of blood is taken from the baby to check for nine rare but serious diseases. When the baby is about 5 days old, the doctor pierces the heel and collects a few drops of blood on a special card. It’s been sent for testing.
The genome sequence is taken from a sample of blood or saliva. Genomics England does not know the best way to obtain a sample from a newborn for genome sequencing and is conducting research to determine the best way to do this. This is then analyzed for genetic defects associated with more than 200 rare diseases.
“The potential for genomics to revolutionize the way we deliver healthcare is enormous. If we can identify treatable diseases earlier and provide patients with faster access to potentially life-saving treatments, we can improve the lives of people across the country, including thousands of children, with this new pilot project. Health and Human Services Secretary Steve Barclay said.
The study will also explore how the human genome can be used throughout life to inform future health decisions.
And it will evaluate advanced genome sequencing technology to improve the accuracy and speed of diagnosing cancer patients, and will use artificial intelligence to analyze human DNA along with other information such as conventional scans.
Professor Sir Stephen Powys, National Medical Director of NHS England, said: “We are already changing the lives of thousands of cancer and rare disease patients by using the latest technology to diagnose faster and more accurately, provide more effective treatment and predictive intake for the prevention of certain diseases.
“This project can provide more powerful tools for NHS teams.”
Every year in the UK, thousands of babies are born with a treatable, rare disease that can be detected by whole genome sequencing – a screening of a child’s entire DNA. Most rare diseases are hereditary and children under the age of five are disproportionately affected.
Although these conditions are often difficult to identify, genomic testing has already become a major diagnostic tool. For many of these diseases, early and effective intervention is critical to help these children lead healthier lives.
The Newborn Genomes Program will also explore the potential benefits of securely storing a patient’s genome for predicting, diagnosing and treating future diseases throughout their lifetime, the Department of Health and Human Services (DHSC) said.
For example, if a child whose genome has been sequenced becomes ill at an older age, such as cancer, it may be possible to use the stored genetic information to diagnose and treat the child.
But while some scientists and clinicians welcomed the program, others said it was important to proceed with caution, given the privacy and ethical concerns associated with this largely uncharted territory.
As a world leader in genome sequencing, Professor Lucy Chappell, Senior Scientific Adviser at DHSC, said it was especially important for the UK to delve into these issues in depth.
“It is very important that we reliably test new genomic technologies so that the public and clinicians can have confidence in how they will be used.
“Therefore, I applaud these plans to study whether new approaches, such as neonatal whole genome sequencing, are effective, safe, and acceptable to parents. These developments could change healthcare.”
Some scientists and physicians not involved in the project echoed the warning. Professor Frances Flinter, Professor Emeritus of Clinical Genetics at the Guy’s & St Thomas NHS Foundation Trust, said: “Using whole genome sequencing for newborn screening is a step into the unknown.
“The potential benefits lie in the earlier diagnosis and treatment of more children with genetic disorders. Potential disadvantages are incorrect or indeterminate results, unnecessary parental concern, and lack of proper follow-up of screen-positive children.”
“Finding the right balance between benefit and harm will be critical. We should not rush to use this technology until both science and ethics are ready.”
Cardiff University professor Angus Clarke said: “The problem with this concept is that this idea comes with numerous practical and ethical difficulties. These include tensions between required access to information and data security, and the need to consent to the storage and retrieval of parent-child sequence data over time.
“There is also the issue of secondary use of data – looking for evidence of pathogenic variants relevant to later disorders that are not relevant to newborn screening for early childhood disorders – and if/when/how parents can access them, because that might have attitude towards them.
“Additionally, there is a general complexity of initial consent where parents must understand many of these issues in order for their initial consent to be valid.”
A public consultation conducted by Genomics England found general support for the use of genomics in newborn screening, provided the correct precautions are followed, the DHSC said.
Source: I News
I’m Raymond Molina, a professional writer and journalist with over 5 years of experience in the media industry. I currently work for 24 News Reporters, where I write for the health section of their news website. In my role, I am responsible for researching and writing stories on current health trends and issues. My articles are often seen as thought-provoking pieces that provide valuable insight into the state of society’s wellbeing.