Genome Sequencing: A Personal Journey (Part I)

 In Medical Product Design

Today, I made the ultimate consumer-health purchase.  By swiping my credit card, I ordered a $999 Full Genome Sequence and Analysis by Boston-based Veritas Genetics.   The test and subsequent moral debate were the topics of an article I read in the San Diego Union Tribune Sunday.   It piqued my interest because the medical test was being marketed to consumers, people like you and me.   I thought, how exciting, further proof of a seismic shift underway in healthcare that includes not just marvelous new products and services but the way they are bought and sold.

Before making that decision, I called my father on the way into the office and said, “Dad, I think I’m going to have my genome sequenced.”  His immediate response, “Do you really want to know?”   I promptly replied, “Well of course. That’s why I’m calling you.”  Then it sunk in.  What if I find out about a genetic disposition toward a dread disease that I will take me out in the future?  What if the information indicates that I need to change my lifestyle immediately?  I’m not an overly religious person, but what does God think about it?

There are clearly moral and ethical issues at play, but every great revolution has them.  I’ve decided not to over-think it and approach the decision just like any other purchase I make.  Do I need this? No.  Do I want it?  Yes.

The psychology behind “want” and “need” is one the healthcare industry and device manufacturers will have to learn to embrace as the industry shifts.  Proactively avoiding or preventing illness can be thought of as a “want”.  Conversely, persuading someone who is already sick that they need medical attention and convincing him or her to seek help is pretty easy.  Appealing to people’s wants over needs is a consumer-based model and in Converging Healthcare and Consumer Worlds Will Require a New Ecosystem, I touch on that idea and how marketers of those products and services will need to become more consumer savvy in the years to come.

Veritas Genetics has done a pretty darn good job of explaining whole genome sequencing on its website.  At least all the things an uninformed consumer like myself needs to know.  Prior to visiting the website I did a quick Google search and read about sequencing.  I have to admit that even with my technical background my head was left spinning.  It’s like not being a car person and reading Road and Track magazine.  Horsepower?  Zero to 60?  Who cares – I just want to get to work every day and be able to connect my phone to my car’s speakers.

I love the website explanation:  “There’s a map inside every one of us.  You actually come with a set of easy to read instructions.  Introducing the whole genome.  More informed decisions for health and longevity.”

The site goes on to explain some of the more expected analysis they will conduct for things like cancer, cardiovascular diseases, immune disorders, organ health and pharmacogenomics.  What surprised and delighted me was the explanation of the lifestyle traits that are included.  One of them is athleticism… how cool is that?  I’ll gain clues to and better understand my athletic and muscle performance, aerobic exercise and endurance to name a few.  I feel like I’m finally about to receive the keys to my body that have been misplaced for 43 years.

If you’re a parent, chances are good you’ve caught yourself saying,  “I wish my baby came with an instruction manual.  I just can’t figure out what’s wrong.”

So imagine a not so distant future, where all babies leave the hospital with a standard issue beanie, diaper, and Life Instructions.

Genome sequencing and analysis has the ability to unlock many of life’s mysteries and it will grow exponentially more powerful with every genome that gets sequenced.  It will enable a preventative and personalized medicine revolution that will fundamentally change the way we care for ourselves.

The Cost of Sequencing

Up until now, the biggest barrier to genome sequencing has been cost.  In 2009, having your genome sequenced cost about $40,000. That price has dropped by half each year and San Diego’s own Illumina played a large role in that reduction by launching the HiSeq x10 Sequencer a couple years ago.  Coincidentally, the Veritas Genetics website tells me that my test will be run on that very same instrument.

Earlier, sequencing was primarily used to diagnose a problem and required a doctor’s order and insurance.  It was simply too expensive to be an elective, preventative test.  The current cost represents a tipping point and enables people to slide into the driver seat of their own healthcare, a topic I explored in Do It Yourself Health: Ignore This Trend at Your Peril .

myGenome Online Purchase

I arrived at the Veritas Genetics website and was greeted with the usual sales and marketing language geared to educate, inspire and get me to buy.

As a proud Amazon Prime member who receives free shipping and other perks, I buy most of my stuff online, from shoes to furniture and apparently now – genome sequencing.  Going through the online purchase process was very familiar and almost identical to most purchases I’ve made online with a couple exceptions.

The $999 offer is for the first 5,000 customers and this is actually a pre-order that will be filled by the end of the month.  The most notable exception is that the test requires a doctor’s order.  They even state (read HAVE TO STATE) “This is not a direct to consumer test” but end with “We will assist you in obtaining this order from your provider.”

The FDA is very particular about what medical companies can and cannot say in their marketing literature.  I am convinced that the doctor’s order requirement will fade very soon, as the new patient centered healthcare model evolves.  Until then there will be workarounds for consumers like us.

Exceptions aside, there were essentially three steps to completing my order.

1. I added it to my cart.

2. I entered my personal information included shipping address and physician information.

3.  Finally I was asked for credit card payment information.  There was even an option to enter a coupon code.  A coupon to have your genome sequenced?  Cool, I wish I had one.  Maybe they will be offered on Groupon in the future.

The site says that I will receive a saliva test kit in the next few weeks and get my results 4-6 weeks later.  The consumer in me thinks the turnaround time is too long, in comparison to most online purchases. As a technologist however, I understand the challenges and realize that the sequencing industry is in its infancy.

Now, there’s not much to do but wait. What happens next will be the subject of a future blog.

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