Congratulations, you got a new Illumina sequencer!
You work for a run-of-the-mill lab and institution that normally focuses on research or traditional genetic tests in the clinic, and you’ve now been given money to set up a genomics lab and bring in new revenue. Your boss and the board have heard that clinical genomics is the future and you are to lead them there. You already had a lab. You just needed a sequencer so voila you’re in business! You just need the ancillary equipment, and Illumina has thankfully given you a list of the most expensive suppliers to set you up. And last but not least, the clincher for the business case (that was never written) is that some local clinicians have said they’d love to support your lab. Every now and then they have a patient who should get their cancer sequenced, or are diagnosed with ataxia, Brown syndrome (you had to Google this one), or telekinesis. That’s the beauty of genomics, one lab can get you access to so many different markets.
You know that buying big shiny new instruments is similar to constructing new buildings, neither produce meaningful output on its own. But both help attract new staff, and thankfully you have some budget for this. So you go about hiring people. Grab some lab techs and a lab manager, or someone who at least knows what a quality management system is, and a pathologist or equivalent – oh my gosh they cost more than the sequencer itself! Don’t forget a bioinformatician, or two, or three, you never really know how many you’ll need. Consultants will come knocking on your door – they are expensive too – but you should at least entertain them, they’ll give you attention and flattery.
Now put together your quality management system if you don’t have one already and perform your validation for accreditation. That’s easy huh? Only that it isn’t if you’ve never done clinical genomics before. Then you realise how different the somatic and germline pipelines are really going to be. Your bioinformatician spends all day either on some internet forum with weird avatars or on a black screen with colored text, so you don’t know if they are really solving your problem or communicating with a Computer. Now you realize why companies like Sophia Genetics have succeeded, buying their kits and data/variant analysis licenses are really just an excuse for you to have a someone who knows what they are doing provide you samples and a template for your validation report.
Time passes, you keep yourself busy learning about the umpteenth iteration of the ACMG guidelines, you form opinions on whether copy number variations, gene fusions, methylations, and extrapolations are important variants to report on, and as this is starting to get complicated you attend some patient support groups as well as an AA. By the time you’ve recovered, your lab’s been inspected and you’ve got accreditation. Congratulations again!
Take some photos and videos. This helps create marketing stock images for the instrument manufacturers. They’ll interview you for a customer testimonial and invite you to their user group meetings, of which you get nothing out of, now that travel isn’t allowed. Have fun showing stakeholders through your new lab. Since the samples are bland and colorless, the sequencer itself doesn’t move, and genome browsers and databases look so 1990’s, you just leave them ogling at the pipetting robots. And let them put on some multi-colored disposable gloves. Speaking of gloves, I hope you remembered to throw out those blow-up glove dolls, taken down the posters of the DNA codon table and periodic table of elements, and your whiteboard of consumables to order. Your lab’s supposed to look “clinical” now!
Come up with a name for your professional-looking lab. Maybe your institution will allow you to use theirs – just add “clinical”, or “labs”, or “diagnostics”, as a prefix or suffix. But maybe they aren’t sure if you’ll damage their reputation so you need to come up with your own name. Research has shown that there’s a rapid increase in the number of registered company names including “genet-” or “genom-” in the name. Cool, let’s try that. You go with the creative GenetLabs. Oops, that’s taken.
Time to launch. There’s tens of millions of cancer patients in the world, and 1 in 20 people have a rare disease. These people need your lab, so you tell your staff. You all brace yourself for the flood of samples that’s about to come in. If things go well, you could run a discount program because it fits your ethics, a bit like what Invitae does with its partner programs for a random selection of disorders.
Only that the samples don’t come in. For all those cancer and rare disease patients out there, only a thumbprint’s size of that group actually fit under reimbursement criteria. Furthermore, a large number of cancer patients actually get better through standard of care, and most people with rare diseases get on with their lives without needing a diagnosis. Come to think of it, you have hundreds of connections on LinkedIn and not one of them have a rare disease unless Asperger’s counts now. How is it possibly 1 in 20? Hey, those genomics papers you were reading up on didn’t tell you this!
The sales/marketing/commercial/product/business manager guy/gal that you hired (really late in the process, as the turnaround time from their start date through to results was expected to be quick) reminds you that all along they’ve been needing a team. You finally believe this person. Maybe you should have listened all along, this was the only person in your company that showed up with corporate clothes.
You hire product managers and they fuss over your estimates of the TAM/SAM/SOM. It all seems rather academic, and given that you’re probably an academic, you think that’s a poor expression. All you care about are orders received, not a sketch of the customer journey. You hire marketing managers, literally on a first-in-best-dressed selection criteria. First, they tell you to get a proper logo for your company, not the one you crowd-sourced. They helpfully suggest that you need a DNA helix in it. Secondly, they bemoan how they were the last to be hired when they should have been the first. Not very helpful. In any case, they aren’t the last to be hired; the sales reps are. These are either young scientists and genetic counselors who didn’t enjoy practicing what they actually studied for, or grizzled veterans who won’t use your CRM because they can’t touch type.
Illumina at this stage tries to sell you more sequencers.
You start to figure out the market. The Genetic Testing Registry lists many hundreds of labs in this market, and it’s definitely not updated. And these labs all use the same technology as you. But you’re different. Your staff assure you that your lab provides higher quality, as if the other labs don’t make that claim too.
You’ll also do a data play. You also know about block chain. And genetic counseling chat bots. An Elon Musk poster goes up in the lab.
As you continue to figure out the market, you realize that Invitae are doing what you do, only better. That’s because they have so much more money to burn that you ever had. Ah, so that’s why they are able to provide those freebies. So you write what would be their business case to your boss and the board and they turn it down.
Since you’ve got no access to modern monetary theory like Invitae, you now have to look at other strategies. Foundation Medicine was acquired by Roche for billions of dollars. Billions!! Just think of the ROI! But they actually had some unique technology. So they had spent even more time than you did prior to accreditation. You don’t bother writing up a second business case, because you need to make money now from that sequencer, not after a few more years of RnD.
At this stage, it looks less likely that you’ll be part of the routine healthcare system. You know, the routine healthcare system where a patient in your neighborhood gets ill, they see their physician, who even though has never gone beyond learning G, C, A and T at school, knows the difference between germline and somatic cancer, is now providing genetic counseling, advice on how to navigate the various panels available, and is willing to make and take multiple phone calls and forms from payers, ordering a test from your lab and explaining variants of unknown significance or a clinical trial on the other side of the country, and telling their colleagues to do the same. Actually if you wanted to be part of the system, you should have set up a PCR for COVID-19 testing.
No, you’re not part of that system. You’ll have to fight over other genomics markets that are looking less like your original plan. There’s population sequencing, research grants where clinical results are provided back, screening / direct-to-consumer testing (you haven’t yet found out how much it costs to advertise on Instagram), and maybe you can outsource out whatever you’ve come up with in your lab – at the very least the sequencing! By the way, the list of sequencing providers is even longer.
So while you aren’t broke, this is all pretty disheartening. Illumina have now released the SuperSeq, which gives access to the $599 genome. But you’ll have to pay for the new machine, which they don’t even give you a trade-in option for as their reps have made their bonuses for the year already. To add insult to injury your reps go over and work for them, as do your bioinformaticians. Around about now, Ion Torrent comes calling. They are cheaper, but you’d have to start all over again. And you might not ever report indels but at this stage you just don’t care, and you’ve taken down that poster of Elon.
If the proverbial hits the fan and you do go broke, just remember that some years ago, one of Illumina’s customers allegedly sold their fleet of sequencers on eBay. Aren’t you glad you took those great marketing photos?
Genomics Now 