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Blog
Changing the Rare Disease landscape…one genome at a time
Joanne M. Hackett, Head of Genomic and Precision Medicine, EMEA
Nov 11, 2021
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  • Changing the Rare Disease landscape…one genome at a time

The genomics landscape has changed considerably over the past few years, and a big contribution to this acceleration has been the cost reduction of genomic sequencing. The Human Genome Project, dating back to 1990, quotes the cost of sequencing a human genome at $2.7 billion. When compared to the $299 quote from Nebula Genomics earlier this year – one does not need to think very hard about why global genomics initiatives are now progressing at pace.

It has been great hearing announcements from countries about their commitment to enhance the lives of citizens by embedding genomics into routine healthcare. There are many reasons why a genetic approach is highly desirable, including disease epidemiology, patient risk assessment, drug target identification and clinical trial optimisation. Over 190 global initiatives have been identified with half having a specific disease focus, and many also linking clinical data to the genomic data. Countries that have a health system that can longitudinally follow patients, can really maximise the linkage between genotype and phenotype. In addition, every country can harness the power of data gathered from patients or from survey data. An example of a private initiative is Ancestry.com which has a cohort of 15 million genotyped individuals with linked survey data, and Genomics England is an example of a public initiative which links about 125,000 whole genomes to EMR/EHR.

Genetic rare diseases account for nearly 80% of all rare diseases (Boat, 2015, Wright et al., 2018). The high unmet medical needs and the plight of affected patients and families are powerful arguments for further study of this wide range of rare diseases (Klein and Gahl, 2018, Schieppati et al., 2008, Wastfelt et al., 2006) by both academic and industry led study.

It is estimated in 2020 that 6,172 clinically distinct diseases are genetic in nature according to Orphanet, an online database of rare diseases that includes genetic and non-genetic diseases defined according to the European prevalence threshold (Cutillo et al., 2017). Analysis of the age of onset in rare diseases reveals the remarkable observation that 55% of all diseases are of pediatric origin

Analysis of all rare genetic diseases by the organ these diseases affect indicate that, irrespective of age, close to 70% of these diseases produce abnormalities of the nervous system

The concept of rare diseases focuses on a seemingly low percentage of people affected by a single affliction. Collectively, however, these rare diseases affect nearly 4% of the people during their lifetime. It is predicted that the numbers of patients with rare disease will dramatically increase. This concept is intrinsic to the idea of personalized medicine (Collins and Varmus, 2015).

The power of genomics can only be unlocked by a colossal amount of diverse aggregated non-identifiable data which can be responsibly and securely shared, while also protecting privacy. This is the ultimate goal for a learning health system which can adapt and change depending on the data that is generated. We are seeing an evolving relationship between academic, governmental, clinical and industrial communities which is both necessary and welcome. But…at the heart of all of this is the citizen, and it is our responsibility to ensure the opportunities that arise from a genomic healthcare system are translated accordingly. This includes issues of privacy, secure data storage, retention duration, and disclosed use cases of data to mention a few.

We need to ensure global genomics opportunities get initiated, but also can connect and learn from others. Standardised tools and frameworks are the foundation for this. I am pleased to be part of accelerating the genomics revolution, as it is my desire to have better health outcomes for all. These are not unrealistic desires or expectations, and that’s why together we can change the world…one genome at a time.

Read the Understanding the Global Landscape of Genomic Initiatives Report this blog has alluded to and that is published by the IQVIA Institute.  

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