Exec Chat: Illumina CMO Looks From Pandemic Boom To Future Where Genomics Is ‘Foundational’ To Health Care
Illumina’s chief medical officer Phillip Febbo discusses expanding use cases for gene sequencing, the firm’s planned introduction of new long-read sequencing technology Infinity, the status of its Grail acquisition, and additional plans for 2022.
Illumina, Inc.’s chief medical officer Phillip Febbo expects 2022 will be bright for the San Diego, CA-based gene-sequencing giant.
In an interview with Medtech Insight, Febbo pointed to new product launches, budding partnerships, double-digit revenue growth, and rising awareness of gene sequencing’s vital role in predicting and diagnosing genetic disease as factors driving Illumina’s confident outlook. (Also see "JPM 2021: Medtronic, Biogen, Edwards LifeSciences, Guardant Health, Illumina" - Medtech Insight, 11 Jan, 2021.)
Among Illumina’s plans for 2022 is the rollout of a new long-read sequencing technology called Infinity, which will enable researchers to sequence about 5% of the genome that has thus far remained elusive for Illumina.
“We are taking all the appropriate measures to allay any concerns about this acquisition and creating a future potential anti-competitive situation.” – Phil Febbo
Further, the CMO is confident that the shadow of regulatory intervention cast over Illumina’s $7.1bn acquisition of Grail multi-cancer early detection testing will lift.
In 2020, Illumina announced its acquisition of GRAIL, Inc., which develops the Galleri blood test capable of detecting more than 50 types of cancer. The acquisition was challenged by authorities including the US Federal Trade Commission, which believes it would diminish innovation in the US market for multi-cancer early detection and boost prices. The European Commission objects to the transaction as well. (Also see "Illumina Remains Committed To Grail Merger Despite Regulators' Doubts" - Medtech Insight, 9 Aug, 2021.)
Illumina proceeded with the buyout in August 2021 despite ongoing regulatory investigations. The company said in the FTC proceeding, a third-party discovery issue has delayed the closure of the administrative record. It expects that issue to resolve this quarter and expects the judge’s decision in the second or third quarter. (Also see "Updated: Illumina Presses Ahead With Grail Merger Despite Antitrust Regulators' Opposition" - Medtech Insight, 19 Aug, 2021.)
Illumina also said it would maintain both companies separately to comply with EU interim measures. On 3 February, the European Commission suspended the deadline for its review of the merger, which Febbo considers a “good sign” of engagement with Illumina’s proposed remedies that address the Commission’s concerns.
Febbo discusses below gene sequencing’s current and future prospects, the importance of Infinity, developments around Grail, and what else lies ahead for the company.
That study and many studies that have preceded resulted in many guidelines supporting whole genome use in genetic disease and moving towards meaningful reimbursement. It is a little disappointing that despite the evidence guidelines and reimbursement, there's still very little utilization. Only 5% to 10% of children suspected of genetic disease get early whole genome or any genetic testing. And that's something we're acutely focused on. Genome sequencing is moving also into understanding the impact of our own genetics on common diseases. Genetics will increasingly become important to all of our health and our health care.
Finally, we know that the genome has variants [alterations in the most common DNA sequence] that affect how each of us metabolize drugs. The management of cardiovascular disease with the right prescriptions can be informed by genetics. We also have a lot of interesting information coming out about the genetics in dementia, autism, and other neurodegenerative diseases, and certainly metabolic disease with diabetes, liver disease, are really starting to gain some traction. I think the big movement of whole genome will move out of rare disease and into being foundational to our understanding of common diseases and people's risk to common disease.
We've been building our own teams in our medical group that helped develop evidence, publish evidence, and also develop educational activities. We primarily work with the key professional societies to support them with information so that they're determining how to bring that to their members, whether it's pediatrics, neurologists, cardiologists or oncologists. There are incredible innovators out there that are using our platform to provide clinical tests. We're also developing in vitro devices to make it even more accessible. And as those become accessible, we want to also address the cost for patients.
We still have a long way to go. In the United States NIPT [noninvasive prenatal testing] is covered for most women who are pregnant. Oncology comprehensive genomic profiling is becoming the standard of care and many public and private insurers are covering it. We are seeing that coverage included in the UK, Germany, and in France. I'm an oncologist, I’m used to taking care of cancer patients. It can't move fast enough, because I know outcomes do improve when you use genetic insight to manage cancer and other diseases. We're working very hard to accelerate as fast as possible.
But there is about 5% to 10% of the genome where the structure is hard to sequence and to understand the sequence of it with only segments that are 150, 250 base-pair long. You need segments that are a kilobase, two kilobases, 10 kilobases, because these areas have structural elements – they can be rearrangements, they can be duplications – that require those longer read segments. That’s why we see there’s incredible enthusiasm for short read to do most of the work, but also long read to get into some of those more difficult locations.
There are areas like spinal muscular atrophy where the genes can be hard to deconvolute. There are also some genes that are involved in pharmacogenomics. Like CYP-2D6 is a gene that metabolizes a lot of drugs out there, there’s a pseudo gene, and there are different alleles that can be very difficult unless you have a broader perspective. We’ve been able to improve our bioinformatics to get to many of the alleles and to get almost complete insight in those two specific genes, but Infinity will really complete the process. There are technologies out there that can do de novo long reads [which refers to sequencing a novel genome where there is no reference sequence available for alignment]. But we also want to empower those with an Illumina sequencer to get to that information. Infinity has a special library prep process where we can empower Illumina users to get to those long reads in those regions that are more difficult.
The good news on agreeing is that the European Commission is looking hard at our remedies now and asking for a lot of information about exactly what the remedies are. We've put out a long-term supply agreement where we have real engagement with some of our key customers who are considering also participating in the multi-cancer early-detection market moving forward. It's going to be an incredibly important and competitive market. We're going to want to be the sequencing platform of choice for any company creating one of these tests. It’s in our best interest to make sure that our acquisition of Grail does not decrease the enthusiasm that companies will have building towards a test.
When you combine really good understanding of diseases that individuals have together with genomic information in populations, it really gives you an idea to understand new potential therapies to improve upon outcomes. And we see a lot of customers investing in different databases, the UK Biobank activities, it's just going to be really exciting to see the insights that are generated over 2022. We’re anticipating growth of 14% to 16%, another record year for us as far as revenue, and it's just a manifestation that genomics has always been fundamental to research but it's becoming increasingly foundational to health and health care. I think we'll continue to see movement in that direction this year.
On a broader scale, this pandemic has raised awareness of the importance of sequencing and understanding public health threats. It was the first time that my parents, who are both in their 80s, started talking to me about sequencing and variants. ‘Doesn’t your company do some sequencing?’ Yeah, we do some sequencing … I took that as a very good sign that it's starting to raise awareness.
I’m hopeful this 2022 will be a much different year with respect to the risk to all of us from this pandemic and the risk to society and our livelihoods. More customers have these sequencers in more parts of the globe. They’re now going to ask what else can we do with this sequencer or what can we do for other infectious diseases like HIV, multidrug-resistant tuberculosis, malaria. What can we do for non-infectious noncommunicable diseases like heart disease, like diabetes, and cancer. I'm really excited to think about the opportunities to help those folks now transition to addressing other needs that are beyond the pandemic.