OVER THE Over the years, doctors have described more than 7,000 rare diseases, which are generally defined as affecting less than 1 in 2,000 people. Therefore, although rare for me personally, such illnesses are collectively a serious problem. There is a need for long tails that are difficult to treat due to the small number of patients and the often too slow recovery of symptoms. Three-quarters of rare diseases are hereditary, and the American advocacy group Global Genes believes that 400 million people worldwide have these diseases. For medicines to be better, those with them need to be aware of them sooner, preferably on the first day of their lives.
To that end, doctors in many places want to sequence and screen the entire baby’s genome at birth. In the United States, there are projects to do just that at Boston Children’s Hospital, Columbia University, and Lady Children’s Hospital in San Diego. Harvard’s pioneering group, known as BabySeq, recently received money to expand a small job to include 1,000 babies. In Europe, a five-year project called Screen4Care has begun. Efforts are also underway in Australia, China and Qatar. But a notable project is in the UK. There, a government-owned company called Genomics England was set up to carry out a study called the 100,000 Genomes Project to investigate genetic diseases and cancer in adults, and soon decided to sequence the genomes of 200,000 babies. Start the desired pilot project. It can be a precursor to national programs.
Screening babies for hereditary diseases is not a novel idea. Especially in North America, Europe and the Middle East, newborns are often tested at birth for some common hereditary disorders such as sickle cell anemia, thalassemia, and cystic fibrosis. However, whole-genome sequencing offers the potential to discover thousands of disorders rather than the few disorders currently being searched.
Early diagnosis means early treatment. This in turn means that children’s lives will be improved and even saved. However, the power of this technology could, in theory, help screen for conditions that may occur in later years, or even help parents avoid having other children with the same genetic mutation. Means there is.
The number of risk-related variants that are appropriate to screen is an open question. The first project of this kind, BabySeq, has done about 1,000 tests. It was found that 11% of the 159 infants it examined had at least one variant associated with the disorder that the child developed.
Technological utopians may find it a good idea to test everything, but newborn parents are more cautious. At a conference held by Genomics England in London on May 4, Rick Scott, the organization’s chief health officer, hopes the team will look far away in a genomic screening program for newborns in discussions with parents and doctors. He said he concluded that he was. A set of narrower conditions than BabySeq was looking for. The most attractive tests were for varieties that were likely to have childhood illness and would benefit from early treatment.
Therefore, Dr. Scott says the set of variants Genomics England seeks is “carefully” determined. Currently, the proposed list contains hundreds of items.If implemented TotoAs a result, about 1 in 200 babies will be diagnosed with a rare hereditary disease. The list may grow as understanding improves and new treatments arrive.
This public consultation shows that some parents want to know as much as possible about their child, while others never want to. According to David Bick, a clinical geneticist who advises Genomics England, one particular finding is that parents want certainty. They find it useless to say that a child is “quite likely” to have a medical condition. Rather, they want a fairly clear “yes” or “no”.
Also, many do not want to know about adult-onset illnesses that children may suffer at some point. This means rejecting tests that may indicate a newborn’s risk of developing cancer, diabetes, or Alzheimer’s disease in later years. That information puts the burden of deciding what to tell the child and when. Rather, these parents feel that it should be up to the children themselves to look for that information when they get older, if they so desire.
However, there are still some challenges. Pompe disease, for example, is a disorder in which a carbohydrate called glycogen accumulates in the cells of the body. Infant-onset forms of this disease need immediate treatment. Adult-onset types can be left untouched until they are in their thirties. Current genetic testing cannot distinguish between these morphologies. Therefore, the price of immediate treatment for adolescents is that there are parents who must have the knowledge that their offspring will eventually suffer, though not immediately.
Tay-Sachs disease, a fatal disease in childhood, poses another dilemma. Some parents absolutely don’t want to know about it, because it ruins their early experience with their children. Others feel that knowledge is power and want to know.
One of the most difficult questions of all is Duchenne muscular dystrophy, a degenerative disease that begins in childhood. Screening for this will find it in 6 of the 100,000 children tested. However, only a few of these currently have curable forms of the disease, and the required medications are not widely available. However, knowing that your child has the disease can also allow your child to take part in new drug trials.
Next year, Genomics England will work with doctors, patients, and the general public to tackle such questions, armed with a set of principles (which are controversial in their own right) on what tests should be done. prize. These principles include the idea that screening is applied but should lead to improved results. This should not include many invasive follow-up tests. And there is strong evidence that the genetic mutation being tested is actually causing the condition in question.
And there is one more. This is a difficult question about how to keep your data safe for life. Proper informed consent for all the different uses for which such data may be used is at the heart of the UK’s plans. Other places may not be so careful. In addition, things change. The temptation to crack an open genetic database for police investigations may be irresistible. Insurance companies will also be happy to snoop if allowed.
Most importantly, such data is a true Aladdin cave for medical researchers. Only some parents are ready to add a sequence of children to this cave. (Informed consent means that data may not be used in this way without the explicit consent of the parent.)
Combining the fruits of future scientific advances with the perfection of people DNA Sequences collected at birth can bring enormous medical benefits. But it may be a double-edged sword. Current knowledge of how the genome works is primitive. Among them are many so-called dark genetic substances that do what is currently unknown. The genome can, for example, hide the secrets of potential mental illness, or the secrets of behavioral predisposition that the owner of the genome wants to remain rather private. Current rules say that should be the case. But for those who have opened the door to allow doctors and scientists to see their data, the question of whether those data will remain secure for the rest of their lives may be a bet. ■■
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