Looking Ahead to the 2022 American Society of Human Genetics Annual Meeting
Archana Gupta, PhD, staff scientist at Thermo Fisher Scientific, shares her perspective on the potential of genomic research to improve human health.
Genomics and genetic research have transformed – and will continue to transform – clinical care for many diseases and conditions. Scientific discoveries enabled by new genetic understanding are often the critical first step toward developing a new test or intervention to improve outcomes and human health.
Applied Biosystems Solutions has been at the forefront of medical innovation through genomics and genetic research for more than 40 years. This week, a team of Thermo Fisher scientists will attend the American Society of Human Genetics (ASHG) Annual Meeting, where more than 6,000 scientists from academia and industry will share the latest insights from across the field.
Thermo Fisher Scientific at ASHG
Archana Gupta, PhD, staff scientist, Genetic Sciences, at Thermo Fisher, is excited to lead a workshop on genetic analysis tools for precision cancer research at the event. But more importantly, she looks forward to being surrounded by genetic scientists from around the world, who inspire her in her work with technologies that enable scientists to better understand human disease and health.
Archana, your team will participate in the American Society of Human Genetics this week. Have you attended this event before? Why is it important?
Yes, I attended ASHG last year virtually. ASHG is the largest human genetics conference in the world, and I can’t think of another event of this size that brings together such a robust network of scientists in the human genetics and genomics space.
I’m also looking forward to learning about the discoveries and challenges in this research space. I’m constantly inspired by the relentless work of the scientific community to make a difference in human health. We at Thermo Fisher Scientific want to be there to support their mission and help push their science toward breakthroughs and clinical transformation.
What are you most looking forward to at the conference this year?
This year, the conference is in person. I’m very much looking forward to meeting with a diverse group of scientists, as well as engaging in the interactive sessions to learn more about different research topics, especially complex and rare diseases, cancer and epigenetics. I’m also looking forward to connecting with our collaborators in person and learning from leading scientists on how they are pushing the boundaries of genetic research.
When I attended the European counterpart, the European Society of Human Genetics (ESHG) earlier this year, I loved hearing about some of the rare inherited diseases that affect some families in the world. That we now have genetic tools available to determine the disease etiology and support this research is an unbelievable feat. I hope to hear additional cases like this discussed at ASHG.
I’m also interested in the genomics-led transformation of cancer care. There has been a lot of investment in precision cancer research, and I want to hear more about how scientists are using genetic information of cancer patients to detect cancer early and improve disease outcomes. It is a promising field and one that we all hope gets realized to its full potential.
How have genetic technologies advanced in recent years?
Genetic technologies have advanced significantly over the last few decades to keep in pace with the questions that are being asked by the scientists. Whether it is assay sensitivity or sample throughput or instrument automation, we are constantly evolving our genetic analysis tools to ensure that we are enabling scientists all over the world to deliver cutting-edge scientific insight that can be translated in the clinic. This of course is built upon the foundation of technologies that are rock solid and reliable. As a scientist myself, I cannot imagine anything being more important than to have data that you can trust in, particularly when it comes to human health. One cannot afford to go wrong there.
Sanger sequencing, for instance, is considered as the gold standard for sequencing and is being used by many researchers to detect and confirm genetic mutations involved in various disease processes. Given its wide usage and therefore need for higher throughput, we recently launched the Applied Biosystems™ SeqStudio™ Flex capillary electrophoresis system which offers a four-plate capacity with remote setup and monitoring for greater flexibility.
Another great example is our new digital PCR (dPCR) system, the Applied Biosystems™ Quantstudio Absolute Q™. There is a great need for high sensitivity and precision for liquid biopsy to detect cancer mutations. Given how limited the sample yield from liquid biopsy is, it is all the more important to have the input be fully analyzed. The Quantstudio Absolute Q system utilizes our proprietary microfluidic array plate technology and dead-end reagent loading that enables 95% of the sample to be analyzed per reaction as opposed to just 25-60% of other dPCR systems. Imagine how much more information you can get from your precious clinical samples now.
We also take our responsibility to continue advancing our genetic analysis portfolio very seriously, and we want to ensure that the technology is accessible globally to empower scientists in their research.
From your perspective, what are some of the ways that new genetic understanding can make the world healthier?
Genetic research offers the ability to understand and investigate a disease state at the molecular level. This can not only be used for advancing our knowledge of the disease pathogenesis, but also for translational applications such as disease detection, therapeutic target identification, biomarker discovery, etc. As an example, genetic analysis technologies such as qPCR, dPCR and Sanger sequencing are being used globally to detect cancer-driving genetic mutations or viral nucleic acids that help in identifying patients for timely treatment of cancer or an infectious disease. The recent use of Thermo Fisher’s gene expression assays for SARS-CoV-2 detection during the ongoing pandemic speaks to that point- sensitive detection in a timely manner to keep the community healthy and safe.
Another technology that deserves mention here is microarrays, specifically for predictive genomics. By analyzing the genomic information of an individual, one can predict disease risk and understand drug response in an effort to improve health outcomes. Biobank repositories all over the world, including the UK biobank, are making use of the Applied Biosystems™ Axiom™ microarrays for high-throughput genotyping of population-scale cohorts that are being used for large-scale analysis of disease biomarkers for various conditions. Such information could be used toward developing prevention strategies – compelling lifestyle changes and more frequent screenings – or to guide personalized treatment in the future.
We’ve seen a lot of clinical transformation in the last decade that was made possible through genetic advances. What do you think the next decade could look like?
I’m excited about a number of things. I’m excited about gene therapies, especially, for their potential to address the root cause of disease. If we can safely treat patients at the genetic level, the benefits of one treatment could be permanent. It’s been the greatest joy for so many scientists who’ve been working toward this for decades to actually see that all of this research is improving human health. I’m an HIV researcher by training, and I’m really excited for the first-ever Phase 1 clinical trial going on right now to evaluate the safety of a gene therapy approach for achieving HIV cure. Patients with HIV need lifelong drugs, so it would be life-changing for them if there was a way to delete the virus out of cells. This is mentioned in the sentence below, although in a slightly different context
Needless to say, as gene therapies are advancing from bench to bedside, so is the need for high-throughput genetic analysis tools for evaluation of the gene editing technology or the delivery system to optimize the therapy platform. It is imperative for us to continue meeting the scientists’ needs as they work toward developing cures.
The other area I personally find very interesting is the research on microbiome. Our microbiome plays such an important role in shaping our immunity, and we primarily think of the gut when we think about it. However, recent research has shown that different bacterial and fungal nucleic acids exist in cancer tissues and in plasma of cancer patients, and so they could potentially serve a diagnostic or prognostic function in cancer. How interesting would it be, if you could tell what type of cancer one could have by merely by investigating the microbiome signature in the circulation? Also, what if we could use that information in reverse? If certain types of microbes have high association with cancer incidence, perhaps we could treat cancer by changing the microbiome? The future of this field is very exciting!
What makes you most hopeful for the field of human genetics?
So much of our health is tied to our genetic makeup. Yes, the environment is also a big component, as well as our lifestyle, but a big part of who we are – and, particularly, our risk for developing disease – is encoded in our genes. Genetic insight can unlock a lot of powerful information that could lead to clinical transformation.
Much of our disease risk, especially our risk for developing cancer, emerges from our genetic makeup. So, if we want to truly improve human health – by curing diseases, improving lives and reducing the morbidity of certain diseases – it is so important to understand how genetics play a role.
Ultimately, as genetic scientists, we set out to improve human health. The field has come such a long way, and we’re truly making some impact toward that goal.
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