A Shift Toward Multiomics: How Genome Sequencing is Improving Human Health
Contributed Commentary by Ephrem Chin, Revvity Omics
October 20, 2023 | There has perhaps never been a more exciting time to work in genetics. Thanks to technological advances and information sharing through various industry and academic collaborations, we know more today about the human genome and how it influences human health than could have ever been previously imagined.
Twenty years ago, scientists completed the Human Genome Project that produced a DNA sequence accounting for roughly 90% of the human genome. This effort took 13 years of Sanger sequencing and billions of dollars to complete. The same endeavor, if pursued today using current next-generation sequencing (NGS) technologies, could take just a single day. This humbling realization speaks to the overwhelming power and progress of genomics today and suggests even greater opportunities that lie ahead.
A Shift Toward Multiomics
Today, genomics laboratories are doing much more than helping physicians make diagnoses. By marrying genetic data with other information and resources from different omics technologies—i.e., proteome, transcriptome and epigenome—medical geneticists help to provide a more detailed view of an individual’s health profile. This is what we know in the industry as multiomics.
Genomics has improved our understanding of the human genome and how individual genes (and their variants) may make an individual more likely to be diagnosed with certain conditions or diseases. And, thanks to sequencing technologies, we know today there are about 6,000 genes shown to be causative of approximately 7,000 disorders. Armed with these insights, medical geneticists are better able to refer patients with a rare disease or disorder to physicians for specific treatments. Researchers involved in the U.K’s 100,000 Genomes project conducted a pilot study in 2021 that used findings from genome sequencing to refer 134 individuals to physicians for immediate clinical actionability based on genetic diagnoses. Some of these individuals became eligible for clinical trials or saw changes in medication as a result. Others used findings to inform future reproductive choices or initiated surveillance and predictive testing for relatives. Similarly, studies like Project Baby Bear, which used rapid whole genome sequencing (rWGS) to provide personalized care to critically ill newborns, resulted in diagnoses for 76 infants and led to shorter hospital stays, fewer unnecessary procedures and better outcomes.
In these two examples alone, we see the clear impact of genomics in healthcare decision making—especially for rare disease patients. As a result, more companies—including Revvity—are bringing innovative sequencing technologies and services to market. The next natural challenge then for our industry becomes: how do we improve access to genome sequencing and use multiomics analysis on a global scale?
Making Multiomics Work For All
Awareness and access to genetic testing varies greatly country to country. This is due in large part to differences in national health systems (i.e., how people access, receive, and pay for care) as well as socioeconomic factors of the local population. For multiomics to be most effective, the presence of local genomics laboratories and sequencing of individuals from the local population is critically important. This is because certain genetic variants may exist only within specific populations. In low- or middle-income countries where resource allocation and mobilization may be lacking, collaboration between public and private organizations can be particularly impactful. Similarly, other global pharmaceutical and biotechnology companies play a role in extending the application of multiomics to improve public health. This could include offering free or discounted rare disease testing, or by developing novel treatments for these conditions.
What Lies Ahead In Multiomics?
Already, multiomics applications are moving beyond diagnostics to facilitate other genetic discoveries – especially in the pharmaceutical industry. In addition to identifying patients to participate in clinical trials, state-of-the-art platforms for biochemical and genetic testing can be used to monitor biomarkers and track the efficacy level of specific therapies. Multiomic information helps drive the next generation of CRISPR-based therapies. The potential impact of these programs could be monumental, leading to the development of new treatments faster, and helping more people live healthier, happier lives.
Additionally, there is a growing body of research aimed at uncovering the clinical value of omics-based screening in seemingly healthy individuals. With new insights uncovered in these applications of genome sequencing—along with continued improvements in the economics of conducting sequencing services —it’s possible WGS will transition from a being the last genomic test to run to being a first-tier diagnostic tool.
In science there is little, if anything, we can say with certainty. What should be expected is more change and progress made in multiomics technologies and discoveries for year to come. Personally, I cannot wait to see what the future holds.
Ephrem Chin is head of global OMIC services at Revvity Omics, a division of Revvity (NYSE: RVTY) that offers omics-based services in more than 155 countries worldwide to support HCP in patient care and biopharmaceutical companies in fast-tracking the development of treatments for genetic diseases. Ephrem.Chin@revvity.com