The Genome Era is here. How do we make the most of it?
Susan Tousi
CEO at DELFI Diagnostics | Board Member at BICO | Scientific Advisory Board at Vizgen
We’re in an incredible time – sequencing applications are proliferating, science is advancing at a breakneck pace, and the word ‘genome’ is almost mainstream. The potential is massive. To unleash it, we need deep collaboration. We need the strongest technology. And we need to deliver the power of genomics globally and equitably.
I’ve spent the last 12 years of my career here at Illumina, either building genomic technologies as our Chief Product Officer, or helping researchers and clinicians bring them to life in my current role as Chief Commercial Officer. And each day, I have a renewed gratitude for the power of the genome, particularly on days when I get to connect with the people who are bringing that power to patients and to the planet. I recently had the honor of spending time with global leaders in research and clinical genomics at the International Congress of Genetics and Genomics in Melbourne, Australia. In our time together, we discussed the unique inflection point we’ve reached in genomics, and how we can seize its opportunities for the future.
To appreciate just how remarkable this inflection point is, we have to go back to the beginning – of gene manipulation at least – so around 50 years ago. Since that time, collective curiosity in genetics and genomics rapidly expanded. Genomics now reaches nearly every area of human and planetary health – from the leading disease states like cancer and heart disease, to leading environmental issues like food security and climate change. Twenty-five years ago, Illumina was founded. Today, our more than 23,000 instruments are used by more than 9,500 researchers and clinicians in more than 155 countries. Twenty years ago, the first human genome was completed, after 13 years, nearly 3 billion dollars and the efforts of thousands. Today, with our latest sequencer, the NovaSeq X, you can sequence and analyze a whole human genome in a day, for about $200. And a little less than 20 years ago, the UK BioBank started collecting samples. Today, this population sequencing model has expanded around the world, with Denmark, Singapore, Taiwan, and others engaged in population-scale initiatives, and multiple countries in the planning stages.
We are now in the genome era. And it presents us with immense opportunity – we still have so much more to discover, and so many more lives to reach.
To date, 4 million people, only 0.05% of the global population, have had their whole genome sequenced. Think about how many people that means are still waiting for answers, for help.[1] [2]
And from a planetary perspective, one that affects all humans and their health, the climate crisis continues to decimate species, crops, livelihoods, and people. As just one example, world hunger is on the rise after a decade of decline, affecting over 800 million people, more than 10% of the global population.[3] [4]
We don’t have time to waste. We need to keep accelerating our progress to expand the reach and application of genomic technologies to ultimately help our brothers, sisters, parents, children, friends, and planet.
The good news is – we can do this. All of this. Researchers and clinicians around the world are generating the ideas and the discoveries to solve these incredible challenges of humanity. And it is our constant focus at Illumina to deliver the next game-changing technologies that will support them in their groundbreaking discoveries.
Based on what we’ve done in the past, what we know we can create together, and the challenges we currently face, what could the next 5, 10, 50 years bring? Your care as a patient could routinely be informed and custom delivered using the multitude of genetic information unique to you. Your genome could serve as the fundamental element of your health record, and your own immune system could be part of your best treatment option. And genomics could become our greatest tool in combating the effects of climate change – to create plants that slow global heating, to protect species at risk of extinction, to generate nutritious global food supplies.
领英推荐
All of this is possible in the genome era. And we're working to make it a reality by increasing diversity, access, and partnership.
Genomic data is the blueprint for everything from identifying new diseases to precision drug development, and these data sets must be equitable. 87% percent of individuals in genomic studies of disease risk are of European ancestry. We can, and have an obligation to, change this. We’re working to help advance diverse data sets through partnerships like that with Nashville Biosciences and Amgen, where we are sequencing 35,000 whole genome samples from African Americans – who are currently very underrepresented in research for clinical genomic applications. And we recently expanded this work, announcing additional founding members of the Alliance for Genomic Discovery – AbbVie, AstraZeneca, Bayer and Merck, who will support co-funding of 250,000 samples and use the resulting data to develop drugs and develop therapies.
Aligned with diversity and equity, we need to make genomic technologies more affordable and accessible globally. This includes Illumina’s efforts to keep making sequencing more powerful, more cost-effective, and more sustainable than ever – like we have done with the NovaSeq X. And it includes improving genomic infrastructures globally. For example, our work with the African Centre of Excellence for Genomics of Infectious Diseases to develop a joint training academy will help increase Africa’s genomics capacity – which is critical for the continent that holds the greatest genetic diversity on earth.
Partnership underpins all of this: our abilities to better reflect diversity in genomic data and the genomic field, and to better drive awareness for, access to, and adoption of genomic technologies. This includes supporting the many ways genomics can be used to better our planet. For example, we are partnering in Australia with the Minderoo Foundation to use sequencing to help us better understand changing marine ecosystems to better protect marine biodiversity.
We have reached an incredible moment in our industry and in our collective history. And the life-changing benefits of that moment, of genomics, can’t come soon enough, for patients around the world or for our planet.
The technology, the insights, and the ingenuity exist to seize that moment. Most importantly, so do the people – researchers and clinicians around the world are thinking bigger and bolder than ever before. It is the honor of my career, and of Illumina as a whole, to work alongside them to help make those ideas, those dreams, reality.
Genome2Life with Strategic Execution in Global Market
1 年Genome to Life is the key
Senior Director, Global Population Health
1 年It was great to see you there, Susan Tousi
Neurogenomics, Life Science Insights, Pharmacoeconomics, Valuations
1 年“Genomic data is the blueprint for everything from identifying new diseases to precision drug development, and these data sets must be equitable. 87% percent of individuals in genomic studies of disease risk are of European ancestry. We can, and have an obligation to, change this.” Absolutely amazing take! I was speaking on this last weekend.