This New UK Study Helped Illuminate The Genetic Causes Of Rare Diseases Among 5,500 People
Thanks to a recent nationwide study in the UK, approximately 5,500 individuals living with severe developmental disorders are now aware of the genetic cause underlying their conditions.
“Getting the right diagnosis is absolutely critical for families with rare conditions, which collectively affect around 1 in 17 people. Most of these conditions are genetic and can be diagnosed using the same genomic sequencing technology,” explained Caroline Wright, the study’s lead author.
The Deciphering Developmental Disorders (DDD) study, launched by the Wellcome Sanger Institute and the NHS, recruited over 13,500 families from 24 different regional genetics services located throughout the UK.
Each family had children living with undiagnosed severe developmental disorders likely due to a single genetic change– even though they had been previously tested via their national health service.
So, the researchers at the Wellcome Sanger Institute set out to sequence all of the parents and children’s genes in hopes of finding answers.
This genome sequencing was able to illuminate genetic diagnoses among about 5,500 children who participated in the study.
The diagnoses had a wide range– occurring in more than 800 different genes. They also included 60 new conditions which were discovered in the study.
Approximately 75% of the conditions were the result of spontaneous mutations– meaning they were not inherited from either of the child’s parents.
“The families in our study were desperate for answers, which can make a huge difference to clinical management and quality of life. We worked with hundreds of clinicians and scientists, as well as thousands of patients trying to find those answers,” Wright detailed.
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“By sharing our findings, many more families in the future should get answers faster.”
Additionally, the team learned that the chances of receiving an accurate diagnosis were lower among families not of European ancestry.
Due to this, the researchers have advocated for the increase of research participation among under-represented groups, as well as responsible data sharing.
“Undiagnosed patients with rare genetic diseases have the most to lose if they are not given an opportunity to participate in research and if their data are kept in silos,” said Matthew Hurles, the study’s senior co-author.
In fact, many of the team’s diagnoses were only possible through the combination of data from across diagnostic centers in Ireland and the UK.
And for some diagnoses, the team was only able to make a diagnosis by sharing data with colleagues internationally.
So, as genomic technologies make their way into routine healthcare, Hurles believes that it is critical to ensure that undiagnosed patients still learn and benefit from the research conducted using their data.
Collaboration was also at the heart of this study– with an embedded informatics platform allowing scientists, clinicians, and families to work together.
“From the initial design of the study, through the building and sustaining of collaborative partnerships with clinicians, to the identification and addressing of ethics research and advice into the Deciphering Developmental Disorders project has been crucial to its success and to building and maintaining the well-founded trust and confidence of clinicians and patients,” said Michael parker, the study’s senior co-author.
Now, a similar approach for diagnosing rare diseases is also being used in the NHS.
“We’re creating the most advanced genomic healthcare system in the world, and this study is yet another step forward to revolutionizing care for NHS patients,” explained Health Minister Will Quince.
“Using cutting edge, high-tech methods such as this offers the potential to better understand and more accurately diagnose rare genetic conditions so children can access treatment faster and potentially limit the impact of the disease on their life.”
To read the study’s complete findings, which have since been published in The New England Journal of Medicine, visit the link here.
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