DNA is the molecule that is the basis for life on our planet. Its billions of base pairs are responsible for most of the processes within our bodies that are coded within them. However, the sequence amongst these base pairs was just unraveled precisely 20 years ago on the 14th of April 2003.
In the following, we would like to highlight the history that led to the discovery of our DNA sequence and how genetic testing will affect our healthcare system and ultimately our health in the future.
The early days – limited by technology to detect the transparent blueprint molecule for life
Although most people associate Dr. James Watson and Dr. Francis Crick with the crucial help of Rosalind Franklin with the discovery of DNA, however, DNA was first described in 1869. The Swiss chemist Johann Friedrich Miescher discovered a substance with unexpected properties while combining white blood cells and acid. Johann called this unknown substance nuclein believing it had come from the cell nucleus.
It took more than ten years after Johann’s discovery for the German scientist Albrecht Kossel to identify the “nuclein” as a nucleic acid. Based on its chemical properties, he then gave it its current name, deoxyribonucleic acid – DNA. Together with this discovery, he also isolated the four building blocks of DNA; for both, he received the Nobel Prize in 1910.
Crick, Franklin, Watson and Wilkins put the picture together and described the entire DNA comprising the four bases and its helical structure. This discovery was published in the journal Nature on the 25th of April, 1953, and was an important finding that allowed for the improvement of disease prevention based on genetic analysis.
A, C, T, G – but what is the order?
Today 20 years ago, the International Human Genome Sequencing Consortium announced that it successfully completed the Human Genome Project and, thus, its goal to fully unravel the human DNA sequence. This achievement was groundbreaking as it now allowed sequencing DNA from patients and comparing it to a reference sequence. Through the comparison, from patient to the reference, detecting variations could lead to new discoveries on why diseases occur and being used in the diagnostic routine to help select appropriate treatment.
The success of the Human Genome Project took a long time, starting with initial meetings between 1984 and 1986. During the entire 90ties and early 2000s, hundreds of scientists helped to sequence and align the DNA code and these efforts were estimated to have cost around 3 billion US dollars.
Over time and with further research, it became evident that 20 years ago, almost the entire human genome, “only” 92%, was sequenced. It took nearly another 19 years to discover the remaining 8%. On March 31st, 2022, the Telomere-to-Telomere (T2T) Consortium that collaborated on the project to unravel the remaining 8% published the results of this project. These remaining bases include immune response genes for our immune system to battle infections, plagues, and viruses, as well as genes that play a role in the growth of the human brains.
What role does the sequence play in healthcare today?
The field of genomics has already revolutionized cancer diagnosis and treatment. Sequencing the genomes of tumors has become a common practice to identify specific variations, which enable tumor cells to evade the immune system. This can be addressed through a combination of checkpoint inhibitors, which help the body determine the abnormal protein and personalized cancer vaccines that utilize the tumor’s genetic code to aid the immune system in identifying the target. One such combination was expedited for approval by the US Food and Drug Administration for metastatic melanoma patients, and more similar treatments may follow.
Furthermore, a more comprehensive understanding of our DNA sequence can potentially transform the diagnosis of genetic diseases. In England’s Newborn Genomes Programme, the entire genomes of 100,000 infants will be sequenced shortly after birth, allowing for screening of approximately 200 rare and severe genetic diseases, collectively affecting around one in 200 infants. With existing interventions available for all diseases screened in this project, early identification and treatment can improve outcomes and quality of life.
As widespread sequencing efforts continue, our genomes will likely be included in our medical records, alongside other relevant information such as height, weight, and family history. Doctors may even consider this genetic information when prescribing medications, potentially enhancing their effectiveness and minimizing side effects. For example, in the case of warfarin, a drug used for cardiovascular disease, genetic variants of two genes can predict a patient’s sensitivity to warfarin, allowing doctors to prescribe the appropriate dosage.
How GenomSys takes part in supporting the genomics community?
The basis for all our software solutions is a unique multi-infrastructure genomic platform compliant with ISO/IEC 23092 (MPEG-G, “the MP3 for genomic data”), the only ISO open standard for genomic data representation, with CE-marked as In-Vitro Diagnostic Medical Device components to support secure genomic data storage, processing and distribution. Our platform reduces overall costs (storage needs -70%), speeds data transmission and analyses, facilitates data reuse and accelerates time to market for advanced applications. GenomYou is the first available app in the world offering the benefits of secure in-app storage and reuse of DNA as well as in-app genetic analyses to any B2C-focused organization wanting to offer unique personalized services to their customers through a one-of-its-kind digital channel.
GenomSys MPEG-G Toolkit is part of this platform, consisting of CE-marked software tools to support organizations in implementing the MPEG-G standard and leveraging its features (e.g., smaller files, faster transmission,…). Furthermore, it includes state-of-the-art bioinformatic pipelines – MPEG-G native as well – providing efficient secondary analysis of genomic data, easy to integrate into sequencing machines and/or tertiary analyses applications.
GenomSys pushes even further by catapulting genomics into the 21st century by leveraging the ubiquity of the mobile via its revolutionary GenomYou app. The app is the mobile part of the platform to enable organizations that offer services and products related to the information built into our DNA to transition their expertise and workflow onto a mobile device. The app guarantees the highest level of privacy and security for the valuable data, a convenient bridge to offer genomic analysis – run directly in the app – and a potential marketplace for their offers. All possible at the touch of a button on a smartphone, secure and private, thanks to the ISO/IEC-23092 genomic data standard (MPEG-G) and advanced genomic analysis. A unique offer by GenomSys.
By Lucas Laner on April 14, 2023.
 Yourgenome.org (2021). The discovery of DNA. https://www.yourgenome.org/stories/the-discovery-of-dna/
 Science History Institute (2022). Francis Crick, Rosalind Franklin, James Watson, and Maurice Wilkins. https://www.sciencehistory.org/historical-profile/james-watson-francis-crick-maurice-wilkins-and-rosalind-franklin
 National Human Genome Research Institute (2022). Fact Sheet – Human Genome Project. https://www.genome.gov/about-genomics/educational-resources/fact-sheets/human-genome-project
 David Lumb (2022). Scientists Finally Sequence the Entire Human Genome. https://www.cnet.com/science/biology/scientists-finally-fully-sequence-the-human-genome/
 Abby Bertics (2023). How the Human Genome Project revolutionised biology. The Economist 12.04.2023
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