The latest gene sequencing techniques can pinpoint rare diseases with remarkable accuracy in newborn babies.
Next generation gene sequencing in newborn babies in the ICU may actually lead to a more accurate diagnosis of rare diseases. Thus those families who are anxious to know if their baby is alright may be honestly informed regarding the little one’s health status.
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The research got published in the science journal CMAJ (Canadian Medical Association Journal).
This gene sequencing has the capacity to change the very landscape of clinical genetics as a discipline. Those newborns with rare and odd diseases may fare all the better thanks to a timely diagnosis regarding their condition.
Thus prophylaxis and treatment may start ahead of schedule which will lead to a conquest of the disease. Those with rare genetic ailments have to take a series of tests that determine the disease on a molecular level.
Specific genes or a series of genetic sequences are gauged. Often the tests for these diseases are engaged in on foreign soil since in Canada, no such facilities are available. Thus it could be a long time before a diagnosis is out in the open.
Very few studies have been conducted on next generation gene sequencing. The little knowledge we have of this is not enough to be of revolutionary significance. A pilot study took place with 20 newborn babies.
All 4813 genes connected in some way with the rare genetic diseases were tested. Of the 20 newborns, at least half had neurological issues such as seizures and hypotonia.
A molecular diagnosis was obtained for 40% of the infants. This sort of technique could be arranged for in a hospital-based lab. Thus no samples would need to be sent outside the nation.
A diagnosis would be manageable in no time and anxious families could have their fears allayed or dealt with in the nick of time. As they say, care is better than cure.
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Canadian hospitals would do well to opt for this sort of latest technology. It would have a salubrious effect on the health status of the progeny of Canadians who hold the nation’s future in their hands. To nip the evil in the bud by a sort of pre-diagnosis would immensely help in the treatment of rare diseases with efficiency and energetic promptness.