Cambridge-Based Study Focuses on Improved Diagnostics and Treatment for Younger Patients

Updated July 4, 2019

One of the hardest things parents can face is watching their child suffer, especially when it's bad enough to land them in the intensive care unit. It's even worse when treatment doesn't seem to be working properly, or parents aren't given answers to the many questions they have. 

A study from Cambridge University and Addenbrooke's hospital, titled Next Generation Children research project, aims to take a look at very ill children in England who have unexplained disorders. According to BBC News, it is believed that one in four children who are currently in the intensive care unit have some type of genetic disorder. 

Advanced Genome Sequencing 

The Next Generation Children research project uses whole genome sequences and delivers results in as little as two to three weeks. Whole genome sequencing is a beneficial tool that creates a map of each individual's unique DNA, which is kind of like a blueprint of the body. 

Due to genetic and inherited mutations, genome sequencing can help determine an individual's risk for certain diseases. The results of this type of test usually fall into three different categories such as pharmacogenomic profiles, multifactorial disorders, and single-gene disorders. 

The results determine if there are any diseases caused by mutated genes, how someone's body responds to certain medications, and DNA changes that occur in more than one gene. 

How This Helps Patients and Doctors

This type of testing can help in various ways. If children in the intensive care unit with unexplained illnesses have a genetic disorder causing their symptoms, this will help identify what exactly might be going on inside of their body. 

Not only will this answer the many questions parents and healthcare providers might have, but it will also help come up with an appropriate treatment plan created uniquely for them. 

Without knowing exactly how the body responds to certain medications, doctors often have to take time trying certain medications as well as dosages to find the right one. Not only is this time consuming, but it can also lead to unpleasant side effects and provide very little to no help with managing symptoms. 

Genetic testing can help doctors understand exactly what the patient needs and how much. This also cuts down on the need for more invasive testing. 

This type of testing can greatly help doctors create a treatment plan for each patient, allowing them to find out what genetic disorder if any, a patient has, and develop a customized approach to treating their illness and managing their symptoms. 

It also provides healthcare providers with more answers, such as a prognosis, so they can best prepare the parents for anything that might happen in the future with their child's condition. Another benefit is that doctors can now educate parents on the risks of passing on the genetic disorder to more children if they plan to expand their family. 

The Results

Around 350 children and infants in the intensive care unit at Addenbrooke have had their DNA analyzed. Approximately two-thirds of these cases had a gene error that occurred during the time of conception and were not inherited. 

The children who had their DNA analyzed suffered from a variety of conditions which include reduced growth, neurological symptoms, birth abnormalities, and metabolic disorders. Parents also provided samples that were analyzed. 

One major thing that this testing determined was that the appearance of the child or infant is not an accurate way to determine if they have a genetic condition or not. Appearance is also not a good indicator of what gene abnormalities led to the problems the children experience. 

Planning for the Future

Parents who have lost their child due to a genetic disorder can finally find out the reasons why, instead of being left in the dark. Becoming pregnant again after losing a child to one of these conditions can cause a great deal of stress and anxiety. 

Parents may worry if their new baby will end up with the same condition. Genetic testing can pinpoint exactly what their baby died from, and analyze the DNA of the parents and the fetus to determine the potential risk. 

If it's determined that there is a high chance they will pass down a fatal genetic disorder to any offspring they produce, they can make an informed decision to not procreate to avoid any pain and suffering. 

If a couple decides they do want to try to start a family, genome sequencing can help educate the couple on any potential risks of passing down a genetic condition to their future children. This can help with making necessary preparations in learning more about the condition.

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