PerkinElmer

Ephrem Chin

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 percent 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 todayand 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.

Multiomics 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. In fact, researchers involved in a 2021 pilot study used findings from genome sequencing to refer 134 individuals to physicians for immediate clinical action ability 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.

In this one study alone, we see the clear impact of omics in health care decision making – especially for rare disease patients. Many of the individuals impacted by lesser-known inherited disorders face years’ long diagnostic journeys and incur huge financial burdens along the way. The next natural challenge then becomes – how do we improve access to genome sequencing and multiomics 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. Revvity Omics, for example, maintains a global network of labs to practice “in country, for country” testing as per the local cultural setting. Anonymized data collected from locations across India, China, Sweden, the U.S. and UK aids in variant interpretation with a global impact.

Similarly, otherglobal pharmaceutical and biotechnology companies play a rolein 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.

Moving beyond diagnostics

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 help more people live healthier, happier lives.

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.