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Seven years of searching can turn into months using your own genetics

User blog

Andrea Riposati

Are you able to cast your mind back to seven and a half years ago?  For much of our 7 billion-strong population the memory that arises will be of little significance, but for the millions of rare disease patients out there, this memory is has led and changed the course of their lives.

It takes on average 7.6 years for a rare disease patient to receive a diagnosis. This period of time is known as the rare disease odyssey, where patients are termed ‘medical refugees’. This is because, instead of receiving a standard course of medicine, rare disease patients are tasked with enduring; repetitive rounds of testing, miss-interpretations of results, and tracking down specialists. Yet still these patients manage to persevere with a distinct determination coming from what can be a frustrating and intolerable heartache. 

It is estimated that there are 350 million people living with rare diseases across the globe. If these 350 million people were to live in a single country, it would be the third most populous country in the world. These shocking but verifiable facts clearly demonstrate the widespread need to understand and tackle rare diseases. However, our lack of scientific understanding of these diseases has led the snow-balling of detrimental effects, left to be felt by rare disease patients.

Hope is around the corner. Since the legislation of the ‘Orphan Drug Act’ in 1983, there have been as many as 353 orphan drugs approved by the FDA. This has rendered at least 200 of the 7,000 known rare diseases treatable. Evidently, there is still a long way to go, but this brings to light an even greater tool, and one that is at each-and-everyone’s disposal.

80% of rare diseases are estimated to be of a ‘genetic origin’. This means that within our genome lies many of the answers as to why rare diseases occur. If scientists, clinicians and patients were able to understand the genetic basis of rare diseases, then the snow ball effect could be stopped, and rare diseases could be treated or even prevented in the future. However, in order to understand the human genome, it must be sequenced. This means taking genomes apart and citing every letter (A, T, C or G) it contains. Each person has a slightly different sequence of letters, which is what causes variation, as well as rare diseases. In the 1990s, sequencing the human genome would have taken you 15 years, intangible amounts of money and a global task force. Thanks to the age of technology we can now sequence a human genome, in months for less than $500.

Through the use of whole genome sequencing ending the rare disease odyssey could be brought forward. This would put a stop to the thousands of medical refugees, struggling to find where they belong in the medical world. This is because genome sequencing makes the genome and its secrets accessible to both the patient and their physician, accurately determining whether the patient has a rare disease based on their sequence of letters. Using this knowledge both patient and physician have the power to treat the diagnosed condition, prevent the onset of rare disease and find specialists who can make a real difference. Furthermore, once diagnosed, rare disease patients are able to connect with patients just like them. Diagnosis has the power to bring people together, allowing experiences of rare diseases to be shared. But this list of the benefits for genome sequencing does not stop at the patient and the physician.

The more genomes scientists’ sequence, the more variations of sequences can be observed and tested. This allows scientists to find new variations of sequences that cause rare disease. Once these variations are found and established, scientists will be able to research how these variations directly affect us. This will accelerate the development of treatments to stop the effects of rare diseases in their tracks.

Genome sequencing has the potential to empower the patient, the physician and the scientist. Therefore, if this opportunity comes you up, maybe you could consider it as you would be helping to change your life and the lives of others.