Genomic healthcare data is critical to identify disease risk, ancestry, traits and response to medicines and aids in the development of new targeted therapies – precision medicines. DDW’s Megan Thomas observes developments of accessibility in this sector and the potential impact.
One might argue that this all started getting exciting with the launch of the Human Genome Project, which the National Human Genome Research Institute consider to be one of the greatest scientific feats in history1. In April 2003, after its launch in October 1990, the project was completed, generating the first sequence of the human genome. Since then, we have had access to a ‘human blueprint’ which has made it possible to study human biology and develop medicine in a previously impossible way. Now, we see the domino effect that followed.
The current landscape
At the beginning of November 2022, biotechnology start-up Longenesis partnered with Dante Genomics to offer whole genome sequencing (WGS) to more than 10,000 people across the Baltics and Mediterranean regions2. From a general healthcare perspective, access to this sort of data is invaluable, but this is particularly noteworthy in that DNA tests have historically been limited in these regions on account of cost and availability of practitioners, services and resources. WGS and Dante’s genomic reports will provide information about predisposition to genetic diseases, genetic carrier information and more. According to the companies, this collaboration will encourage people to pursue genomic solutions to help make personalised medicine more mainstream across Europe2.
In April 2022, PacBio expanded a research collaboration with Children’s Mercy Kansas City in an effort to improve scientists’ understanding of the genetic underpinnings of rare diseases.7 The collaboration will see Children’s Mercy Kansas City use PacBio’s Sequel IIe system in the study of genetic disease and the research will apply direct methylation detection and Iso-Seq full-length RNA sequencing. More recently, PacBio begun external beta testing of its Onso Sequencing System, a benchtop short-read DNA sequencing platform utilising PacBio’s sequencing by binding (SBB) technology. Neil Ward, General Manager for PacBio EMEA, said: “The launch of Onso and Revio is a significant milestone in both the sequencing technology landscape. PacBio’s HiFi technology has already powered some amazing discoveries, including the first complete telomere-to-telomere assembly of a human genome. With Revio, researchers will be able to access that same great chemistry, but at a much larger scale.”
In February 2022, a study was published in The Lancet Neurology, led by Queen Mary University of London, Illumina, UCL and Genomics England, in conjunction with NHS England, and assessed the diagnostic accuracy of WGS against the test used as standard across the NHS. The study found that WGS can quickly and accurately detect the most common inherited neurological disorders – something previously thought to be impossible. The scientists said the results support the use of WGS as a standard diagnostic tool within routine clinical practice and the study3.
Since then, on 7 November, a new study, also led by UCL researchers, revealed that tailoring the analysis of WGS to individual patients could double the diagnostic rates of rare diseases4. Lead author, Dr Robert Pitceathly (co-lead for the London NHS Highly Specialised Service for Rare Mitochondrial Disorders and a research group leader at UCL Queen Square Institute of Neurology), said: “We believe investing in specialist genomic medicine teams is crucial, ensuring equitable access to dedicated multidisciplinary expertise and maximising diagnoses. On average, patients in our study waited over 30 years for a diagnosis – we now have the capability to solve such cases but need adequate workforce planning to support NHS diagnostic genetic laboratories in achieving this goal.”
Study co-author, Dr James Davison (Metabolic Medicine Department at Great Ormond Street Hospital and Chair of the British Inherited Metabolic Diseases Group), said: “The journey to reaching a diagnosis for children and adults with rare, complex, medical conditions can be a very long process, and genomic medicine provides a transformative and powerful tool in helping reach that goal. This study highlights the importance of the collaboration between specialist clinicians and genetic scientists in interpreting the results of genome sequencing to maximise the opportunity of reaching a diagnosis which can then help guide medical management and treatment options.”
Qatar Genome Programme
The Qatar Genome Programme (QGP) is an example of how a country can and should respond to the sort of data to which we are increasingly gaining more and more access. This population-based project aims to position Qatar among the countries successfully implementing precision medicine for better health outcomes, and is generating large databases which combine WGS and other omics data with the comprehensive phenotypic data collected at Qatar Biobank.
The impact of such projects is visible in a study by the Qatar Genome Research Consortium, which was led by Dr Lotfi Chouchane from Weill Cornell Medicine-Qatar. As reported by DDW5, the study showed the first landscape of cancer germline mutations – hereditary mutations – in the Qatari population. Since then, scientists at QGP have joined forces with clinicians at Hamad Medical Corporation to build on these findings, using them to inform the current standard of care in the country.
Professor Asmaa Althani, Chairperson of the National Qatar Genome Committee, said: “National projects like Qatar Biobank and QGP have already screened tens of thousands of Qatari genomes for research purposes, and now they are showing that the data produced can be utilised clinically, especially in the area of predictive genomics and preventive medicine”.5
In another study on which DDW reported, a group of researchers at Qatar Foundation and Hamad Medical Corporation released a study that highlights a total of 60 disease-causing genetic variants linked with cancer, heart diseases, high cholesterol level and other diseases, with cancer-associated variants being the most frequent – which is consistent with the high prevalence of cancer in the Qatari population.6
The study, titled “Actionable genomic variants in 6,045 participants from the Qatar Genome Programme”, highlighted that 2.3% of the Qatari individuals with whole genome sequence data carried a pathogenic (meaning disease causing) or likely pathogenic variant in one of the 59 genes identified as medically actionable. Many of these genes are related to inherited forms of cancer and heart conditions.
If projects such as these are applied on a global scale, one can only begin to imagine the possibilities for the future of human healthcare.