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The plan to sequence the entire genome of every newborn baby in the UK to find certain people at higher risk of health conditions has been promoted, and consultations indicate that the method may gain public support.
Genomics’ potential to improve health The core of the Chief Medical Officer’s 2016 Annual Report, A group of experts convened by Genomics England (a government-owned genetics service) then recommended a research plan to sequence the entire genome of all newborns.
This approach was supported by Matt Hancock, the former British Minister of Health, who said: November 2019, Said it “will give every child the best start in life by ensuring that every child gets the best medical care as soon as they enter the world.”
Now Genomics England says that discussions with the public have provided support for these plans.
“Our consultation shows that we have done very carefully [whole genome sequencing of newborns] There will be some public support,” Professor Mark Caulfield, chief scientist of England Genomics, told the Guardian, adding that consultations with professionals are currently underway.
All babies currently have the so-called “Heel prick” or blood spot test Screen for nine serious health conditions at about 5 days of age, including cystic fibrosis, sickle cell disease, and various metabolic diseases. If these conditions are recognized, they can be treated or managed.
Although some DNA Testing Available before birth, currently only available for newborns under certain circumstances, such as tracking the sickle cell results of blood spot screening, if you are concerned that the baby may be at risk of a specific genetic disease, or very sick children without a diagnosis .
But supporters believe that whole-genome sequencing—and all newborns—provides more opportunities to discover whether infants are at increased risk for specific diseases, which may open up opportunities for early intervention from diet changes to gene therapy.
“There may be about 600 possible early life intervention conditions, and these all occur before your 5th birthday,” Caulfield said, noting that estimates indicate that nine children born in England will have one of these conditions every day.
Caulfield added that in the absence of treatment, high-risk children can have the opportunity to participate in research on new therapies, and screening may also indicate an increased risk of disease later in life, from cancer to Alzheimer’s disease.
However, experts say that this method has Moral dilemma, Including that it can cause unnecessary anxiety and treatment, not all diseases are currently treatable, and it raises questions about how and when to share results with children. Also have concerns Revolve around privacy and whether the results are as accurate for people from different ethnic backgrounds as for whites.
In order to gauge public attitudes towards screening, Genomics England discussed with the National Screening Council and Sciencewise with approximately 130 British members of the public. Participants participated in webinars and four webinars from February to March this year. .
Survey results will be submitted In the free online event on July 8, Indicating that whole-genome sequencing of all newborns may be supported by the public-participants said this may lead to a move towards a “NHS that focuses more on prevention.”
However, participants emphasized the need to provide support for parents and family members to cope with the psychological and emotional impact of the diagnosis.
Other issues raised included costs, consent, and protective measures to prevent insurance companies or marketing companies from using data. Participants also emphasized the necessity of screening to include babies from all backgrounds, but expressed concern about the possibility of discrimination. They also expressed concern about sharing health information about the condition of adults at birth.
Caulfield said these findings will help shape a potential newborn whole-genome sequencing program.
“The public supports a newborn program that focuses on conditions where early intervention may reduce disability or avoid early life harm, thereby having an impact on life National Health Service Family is the core consideration of the plan,” he said.
He added that the main goal of the pilot is now to assess whether early detection of diseases for which a clear intervention is performed before the 5th birthday is effective, safe, and can be done in the NHS, while adding that in the case of public support platforms, it must be treated without treatment In the case of stimulating new treatments for the disease, it is more challenging and takes time.
David Curtis, Professor Emeritus, University College London Genetics The Institute stated that although important issues were raised in the public consultation, there were some misunderstandings about the benefits of understanding the increased risk and other factors (including safety aspects) that need to be considered.
Curtis said that in his concerns, infants should not be tested to determine whether their parents have specific health conditions—despite the support of public consultations—and added that the genetic methods surrounding whole-genome screening The potential benefits have been hyped to a certain extent.
“I am skeptical of the idea that 600 conditions can be tested,” he said. “The possibly cruel fact is that finding useful, actionable results is very unusual.”
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