Turning an unknown to a known through Genomics, then learning through Digital

I have a daughter, Georgia Finlayson, with special needs. She’s incredibly happy as a child however for almost 12 years we've known this as Global Development Delay - a general phrase known to parents for 'unknown but something is wrong'.  Georgia has delays in all areas of physical and mental development. A couple of years ago, through my daughters geneticist, we became aware of a project that aims to sequence 100,000 genomes from over 70,000 people https://www.genomicsengland.co.uk/the-100000-genomes-project/.  We immediately decided to take part in it to help find answers.

Genomics was new to us and it’s new to a lot of people! Genomics is a discipline in genetics that applies recombinant DNA, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyse the function and structure of genomes (the complete set of DNA within a single cell of an organism). 

Recently we had it confirmed, through the findings of the 100,000 genomes project, that the cause of my daughter’s special needs has been identified as DDX3X gene mutation. Suddenly answers to long outstanding questions are available to us.  Digital channels such as PubMed, Genecards, Science Direct, Twitter feeds from geneticists and other respected sources can be searched.  We’ve found when the mutation was first discovered, who contributed to the research, communities of other families and guidance papers from charitable organisations and such.

Through online sources it was clear the original research that found the mutation was completed in 2015. The mutation is specific to girls. To date, 100 girls are known to have the mutation with a series of common but not identical combinations of symptoms. Not all girls share the same challenges.  We can find one other girl with symptoms in a combination similar to Georgia.

The 100,000 Genomes Project was responsible for these findings but there are other organisations contributing to research and building genomics related data.  These including GeneDx - www.genedx.com - a US based company that specialises in genetic testing for rare hereditary disorders. These were linked to the original research for DDX3X. Genomics is rapidly evolving as a discipline and with the science focus plus more commercial services such as 23andme - there will be more good news for many other families in the future.

I originally selected to work in Health and Life Sciences due to my daughter’s challenges. I needed to learn more about advancements in Science and there was no better place than to be in the industry. The clients I work with often show amazing commitment to progress and new ways of improving people’s lives. Jointly, our work is full of purpose, societal impact and meaning.

Aside from the evolution of Science, working in the Health and Life Sciences industry also comprises challenges with keeping up to date with the experiences people expect along the way and across the different health related touchpoints. Personalising Patient services is an example of a key challenge the industry needs to tackle in order to meet people’s expectations and ultimately have a positive impact in their lives. This is not an easy journey but, for me, it has proven to be a very worthy one and I am proud to be a part of it!