The rapid development of genomic technology over the last decade is apparent in many different areas of our lives. Whether it is the emergence of direct-to-consumer genetic testing or the initiation of huge sequencing projects like the Human Pangenome which aims to resolve racial biases within genetic research (see BioNews 1085), scientific advances are affecting more and more of us.
The recent pandemic has demonstrated that genome sequencing may be essential for public health, as it has allowed us to monitor the origin and evolution of SARS-CoV-2 as well as develop diagnostic tests for it. Genome sequencing is integral to providing insight into diseases that develop as a result of variants in our DNA, and it is for this group of patients that Great Ormond Street Hospital (GOSH) have developed its two-part animated series My Genome Sequence. The series explains what genome sequencing is and how it may be used to help them understand and potentially obtain treatment for their conditions. The senior social research scientist for GOSH, Celine Lewis, said in a statement that the team hopes the animation will 'make it easier for patients and families to understand this technology' as well as to inform their decision on whether to use it.
The first part of the animation series gives a detailed explanation of what DNA is and how changes within our individual DNA sequences cause physical variation between humans. Examples given are the difference in hair colour between two people or something more harmful, such as a health condition. It goes on to explain how having your genome sequenced may be used to help determine whether a medical condition you have is the result of a specific gene variation, information that could be used to inform treatment options (see BioNews 1121). Knowing which genetic variations are behind a medical condition can speed up the time it takes to find an effective treatment (see BioNews 1110).
The second part of the animation walks you through the process of having your genome sequenced so that patients are aware of what will be done with their DNA. It also explains how choosing to have your genome sequenced will help build up an accurate DNA database of people with your condition. This can be used as a point of reference for others who are affected and assist researchers in their work to find new treatments. I was particularly impressed by how this second part makes it clear that having your genome sequenced will not necessarily provide any information that will aid your treatment currently. It does, however, help build up an accurate DNA database of people with your condition. This can be used to aid the diagnosis of others with your condition and, in future, could help researchers find the underlying cause or even develop new treatments. Showing the potential downsides to the individual will help patients make an informed decision on whether to use it.
A stand-out feature of this animation is its use of a robot metaphor. We see a robot's code, or its DNA, malfunction due to a change in the letter sequence, which causes its foot to stop working. This robot's DNA is scanned and a match for this variation in the code is found in the database, allowing doctors to diagnose the robot's condition and then provide the robot with a new foot. This simplification of the benefits of genome sequencing makes the video much more accessible since the topic can be tricky to grasp for younger viewers, and considering that it is available on a children's hospital website, it is important for it to be useful to a range of ages. Although this resource could not be solely used to make a decision on whether to use this service, it would definitely benefit a younger patient as it provides an introduction to how the technology works and does go into detail on a few of the benefits it could provide. Parents or older children who are looking for more detailed information on the process of genome sequencing would need to look for supplementary materials online in order to gain a more accurate understanding.
Online animations are an excellent method of scientific communication as they can be watched at any time and are easily distributed to a large audience. There is a significant lack of educational outreach content targeted at young people concerning new medical technologies and treatments and so it is promising to see a new resource that is easily accessible online and able to be understood by a range of ages.
The use of whole genome sequencing for newborn babies will be discussed this coming Wednesday (17 November 2021) at the free-to-attend online event 'Whole Genome Sequencing at Birth: What Should Be Looked For? What Should Be Fed Back?', produced by PET in partnership with Genomics England. Register here.
There will also be a follow-up event, 'Whole Genome Sequencing at Birth: Consenting Adults, Sequencing Babies' on Wednesday 15 December 2021. Register here.