The DNAdigest social impact
DNAdigest promotes human wellbeing through easier and more efficient sharing of genomic data for research resulting in faster diagnostics and treatments for genetic diseases affecting millions of people world-wide.
Faster diagnosis for genetic diseases
There are globally 350 million people affected by nearly 7,000 rare genetic diseases. 80% of the disorders are genetic disorders that affect mainly children. It takes approximately 7 years in the US and 5 years in the UK to diagnose a rare genetic disease, and some patients never receive a diagnosis. The healthcare expenditure and personal cost for these extensive processes are incredibly high. The patient has to visit 8 physicians on average before any appropriate diagnosis, causing significant distress to both patient and relatives. This often further results in extra healthcare costs, such as psychological counseling for emotional impact.1
There is a promise for immediate diagnosis through DNA sequencing because this technology enables fast characterization of the genome of an individual. However, the diagnosis is not possible without filtering out known genetic variants. With the DNAdigest platform providing direct access to this evidence from existing data, it will be possible to provide diagnosis in a matter of days after DNA sequencing of the patient. The community will benefit from timely diagnosis both in terms of the cost savings by reducing the long diagnostic process and receiving a diagnosis will provide direct personal relief to patients and families.
Shorten the time for drug development
It takes on average 7-9 years with a $1.3bn cost to take a medicine to market due to the limited access of genetic data essential for progress.2Using the DNAdigest platform, time length in the pharma pipeline can be accelerated by up to 6 months. Orphan drugs treating rare diseases will enter the market faster, lowering the cost of drug development allowing earlier availability of the treatment to the patients.
Efficient use of data and public resources
Many publicly funded bodies store genetic data, however because access to the data is so restricted these organisations fail to communicate and share their data leading to replication of efforts, generating the same data in multiple projects. Considering the fact that the data production is highly expensive, this is a very bad return on investment for the public funding of research. DNAdigest aims at making data available for reuse across organisations doing genomic research and genetic testing and facilitating the communication among them. Thus, public resources will be more efficiently allocated.
Faster discovery of cancer biomarkers
Cancer is the most common terminal disease with 14.1mil people diagnosed worldwide.3 Only a few of the thousands biomarkers, whose role is to diagnose diseases, are clinically valid with an estimated time of 5-20 years to reach market due to the limited access on genetic data. Using the DNAdigest platform, time length in R&D pipeline for cancer biomarkers is expected to fall as data on cancer genes will be shared amongst the research groups. Communities will benefit from the faster discovery of the cancer biomarkers that will enable the early diagnosis and treatment of cancer patients.
New opportunities to understand complex diseases
Complex diseases, such as heart disease, affect millions of people worldwide. They are caused by a combination of genetic, environmental and lifestyle factors, many have not yet been identified and those who have, are limited in access by others. With the DNAdigest platform for data access it will be possible to power the big studies required to reveal genetic factors incurring increased risk for complex diseases. People at risk will benefit from an early diagnosis and even prognosis of the complex diseases.