Katharina Buczek
“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.
