Genome management? The rise of genome factories? A Personal “Omics” cloud? A for clinical trials?

Genome management? The rise of genome factories? A Personal “Omics” cloud? A for clinical trials?  Audacious and achievable goals discussed at PMWC2014.

(This blog was originally posted at, earlier this year)

In January of this year,  thought leaders from across multiple industries assembled at the Computer History Museum in Silicon Valley to discuss key themes in personalized medicine at the Personalized Medicine World Conference 2014 (PMWC).  Having been in the genomics space for over 17 years and as now part of team that leads Invitae’s marketing and commercial development efforts, I have been attending PMWC since its inception in 2010.   Over the past 4 years, it has been fascinating to see how rapidly the field is advancing.  Importantly, despite the numerous challenges we face in democratizing genomics, there are inspiring opportunities ahead. This year’s meeting was filled with incredible speakers and ideas, and as much as I wish I could capture them all – I can only scratch the surface by highlighting the few themes I believe will be most impactful on our industry in the coming years.

From $1000 Genome to Genome Factories

The meeting opened with Jay Flatley, CEO of Illumina and recipient of the PMWC luminary award. He revisited milestones in personalized medicine over the last 10 years and showcased how Illumina’s history is intimately intertwined with this story, from genomics research, to translational medicine, to personalized medicine in the fields of cancer, reproductive health, and NIPT.

Most notable was his statement that “demand for genome factories is about to explode,” referencing Illumina’s recent announcement of a new platform HiSeq X, which boasts the ability to sequence a $1000 genome. In order to get to this price point, you need to purchase 10 of these new instruments (approximately $10 million). Economies of scale get you to the $1000 genome and means that a lab with this set-up, can sequence 18,000 genomes a year.  This is a key landmark in advancing and democratizing personalized medicine and making it more widely available to the masses.

In addition, Flatley emphasized that to really use genomes in medicine, “Big Data” sets need to be generated and shared between researchers and clinicians.  He then announced Illumina’s goal “to get 1 million sequenced oncology patients into a database within the next 5 years.” Not an unachievable goal for the man whose company brought us the $1000 genome…

Entering A New Era of Genome Management

Flatley subsequently participated in an impressive panel titled, “10 Years into Personalized Medicine: What Have We Learned and What’s Next.” Other panelists included our founder and CEO Randy Scott, Kim Popovits of Genomic Health, Brooke Byers  of Kleiner Perkins Caufield & Byers, and Ralph Snyderman of Duke University.

Snyderman opened the panel with, “The ability to predict, track, and precisely define the nature of a disease was one of the revolutions of medicine. Although personalized medicine started over 10 years ago and is potentially a $450 billion industry, things haven’t actually changed in healthcare that much. It’s still not personal, prospective, proactive or planned.”

Popovits shared that upon joining Genomic Health 10 years ago, Randy taught her about The Innovator’s Dilemma and the concept of “disruption.” As a pioneer of genomic diagnostics, she reflected upon some of the challenges they faced with Oncotype Dx. “If we had tried to approach this as a traditional diagnostic, we would have failed…I hadn’t anticipated that payers and regulators weren’t ready for genomic medicine.”

Scott also reminisced of his early days at Genomic Health, “We were wonderfully naïve… no one in the pharma industry was prepared to incorporate genomic data into routine clinical trials….  We just had to bypass pharma and go straight to the physicians.”   “Genomic medicine is here to stay,” added Popovits.  “The value is just too high. We will overcome the barriers and there will be a shift to prevention and early diagnosis.” In looking ahead, Kim predicted, “The next decade will be a revolution as transformative as antibiotics.  Every cancer patient will be sequenced.”

Scott’s vision of the future was influenced by his own family experiences of inherited genetic disease – he tells the story of his nephew’s daughter who had galactosemia, a rare Mendelian metabolic disorder.   “5-10% of the population suffers from a Mendelian disease…. Our goal at Invitae is to aggregate all the worlds’ genetic tests into a single assay for less than $1000,” commented Randy.  “We are focusing on germline genetics and the future is family health and comprehensive genome management.“

Genome management.  What is genome management? At its simplest, over the coming years, as the price of sequencing drops further and further, more and more people will have their genome sequenced for a variety of reasons: medical applications, carrier screening, pharmacogenomics, eventually newborn testing at birth, or just because people are genetically curious about themselves and their families.  As our CMO Jill Hagenkord points out in a previous blog, “DNA information will just exist.”

At Invitae, we require a physician to order and interpret our medical tests. However, we believe that every individual has the right to access their own genetic information and that each individual should own their genetic information.   When it becomes common that a plethora of genomic information just exists, the questions will become: Where will you store your genomic information safely and securely? How will you be able to access it?  Who will you choose to share it with and how?  How can you benefit from it?

That’s one of our goals at Invitae: to make genetic testing accessible to a billion people on the planet and then to safely and securely manage it for them.  Enter an era of genome management.

Personal “Omics Cloud” and the Rise of the Wellness Industry

Dr. Leroy Hood, the scientist who discovered how to automate DNA sequencing that revolutionized biomedicine and forensic science, added another dimension to the concept of genome management.  He proposed that, in the future of this space, every individual would have his or her own personal  “Omics Cloud.”

Hood started off talking about the need to unite the stakeholders in personalized medicine through education.  He also echoed Flatley’s sentiment regarding building “big data” databases that can be shared by various stakeholders.

He proposed that a step in getting there is conducting a “longitudinal Framingham type study of 100,000 patients.” His plan is to collect data three times a year from every patient, including “genomic and proteomic data, clinical chemistry, microbiome, and biomarkers from the heart, liver, brain, and blood.” Further, he also suggests layering in “quantified self “ phenotypic data.  This “Big Data” set can then be mined for actionable variants to reveal the early origins of disease.

This mammoth project will create a data cloud for each individual that can track his or her transition from wellness to disease. Eventually, we will be able to optimize factors for wellness. Hood predicts that this initiative will reduce costs, improve outcomes, and result in the creation of a “wellness industry that dwarfs the healthcare industry.”

A for Clinical Trials

Many companies claim that they put patients at the center of their approach, but by virtue of the questions from the audience and the panel discussion, clearly we as an industry are not succeeding at this goal.

Brave Neil Schiffman, stage IV lung cancer fighter, was an inspirational part of a panel entitled, “Personalized Medicine in Oncology Today”.  He is a classic example of a growing movement of patients who take matters into their own hands to self-educate and self-advocate, “I have my patient advocacy gene turned on” he says.

He shared his experience of searching for and extensively researching clinical trials, which he eventually participated in for a year before going back to his Tarceva treatment. Clinical trials give cancer patients hope, Neil continues, “The old model was that entering a clinical trial was the end. Today, it’s actually the beginning of treatment.”

With less than 10% of patients participating in clinical trials, it’s obvious that we have a problem and need to rethink our strategies around clinical trial recruitment.  One of the most poignant moments of the meeting was the emotional plea to the panel from a woman in the audience who moved us all to tears. She had sadly lost her husband to glioblastoma just last week and she shared their story of how once her husband was diagnosed, it was very hard for them to find any clinical trials, they didn’t know who to talk to or what resources were available to them.

“It’s terrible that there are still questions of what do I do next?  How do I find a clinical trial?” lamented Edgar Staren (CTCA Medicine and Science)to which George Demitri (Dana Faber/Harvard) responded,  “We need a so that patients with metastatic cancer can find clinical trials.”

Marty Tenenbaum @martyenenbaum (Cancer commons) supported this further. “We can cut a decade out of the clinical trial process if we can connect patients and  researchers who need each other,” he said. “Your zipcode is not the area to find the right clinical trial for you, it is your molecular zipcode.”

The inclusion of a patient on this panel made it one of the most impactful sessions of the whole conference.  We should emulate this approach. Edgar Staren suggests, “All industry leaders should include patients in their board meetings…it’s always helpful.” Neil supported this, saying, “Ask the patients to participate in the processes, in real time and you will get a better outcome…. don’t wait for patients to come to you. They’re often very sick.”

The participation and opinions of patients and patient advocates in the audience and panels, provokes a sense of urgency that we as an industry need to act swiftly to help make their voices heard and include them in our processes. We REALLY need put the patients at the heart of everything we do. “Every patient is a clinical trial of one,” said Tenenbaum. Disease is personal to every individual, but medicine is not personalized enough… at least not yet.

Free the Data, Unite the Data, and Share the Data

A theme that ran throughout the meeting was the need for patients,  clinicians and researchers to share data in order to accelerate our understanding of disease and develop better diagnostic, detection, prevention, and therapeutic strategies.

Flatley emphasized that Illumina builds and supports strategies for genomic data sharing.  Randy Scott echoed this sentiment when he mentioned the “Free the Data” movement” a grass roots effort to create a database of BRCA variants that can be shared by the scientific and medical communities. “Genes should be free and not patented,” according to Scott.

Marty Tenenbaum, himself a cancer survivor, summed it up nicely “Cancer is a great equalizer, most of us will confront it at close range at some point in our lives and when you do, you will want access to collective knowledge.”

Biotechnology 101 Slides for Singularity University

Biotechnology 101 for Singularity University

As many of you are aware, I recently gave a talk at the very prestigious Singularity University.  This is a program co-funded by NASA and Google to study how exponential technologies can solve the global challenges that afflict 1 billion people or more.

Check out

Singularity University Banner - Biotecnology a...

Image by david.orban via Flickr


Biotechnology 101 for Singularity University SLIDES

The 2011 Graduate Studies Program or GSP11 as it is known among the Singularitans, is a 12 week program where 80 of the brightest and most accomplished individuals from over 35 countries have assembled at NASA AMES to learn the exponential technologies in the following areas

Technology Tracks AI & Robotics
Networks & Computing Systems
Biotechnology & Bioinformatics
Medicine & Neuroscience
Resource Tracks Futures Studies & Forecasting
Policy, Law & Ethics
Finance & Entrepreneurship
Application Tracks Energy & Ecological Systems
Space & Physical Sciences

I was lucky enough to be invited to give them the basics of Biotechnology and Genomics and for those of you that are interested, my slides are posted above.

My Review of Kevin Davies’ The $1000 Genome

I just finished reading the 1000 dollar genome and I loved every page of it.  It documents the last ten years of genomics and the major accomplishments in genomic discovery and molecular technologies which will culminate in our ability to sequence an individual’s complete genomic sequence in a few hours and for less than $1000.  This is the holy grail of genomics.   While reading it I actually had palpitations of excitement at the thought that we are very nearly there and that this momentous achievement will happen in my lifetime.   The implications for science and medicine are huge.

You can’t really talk about genomics and molecular technologies without talking about personalized medicine and Direct to Consumer (DTC) genomics and Davies covers both eloquently.  He describes the innovations that will make the coveted $1000 genome a reality as well as the major characters in the field who have contributed to the genomics revolution and the companies that are emerging to commercialize these technologies and those that are bringing genomics to the consumer. You do need to have some scientific background to understand the technologies outlined, but even the non scientist will love the stories of the characters and more importantly the implications that knowing your genome can have for you.

Direct to consumer genomics is a very hot topic, from a regulatory perspective, from a privacy perspective, from a genetic ownership perspective and from a clinical utility perspective and Davies addresses all of these issues objectively.

Some of things I particularly liked about the book.

  • The book is very current; events that occurred just 8 weeks ago are described in detail here.  While the steps towards the $1000 genome have been a culmination of discoveries over many years, Davis focuses on the events of the last two years where the biggest technology leaps have occurred while cleverly jumping back to events in history to create context.
  • The story of 23&me is particularly inspirational to me; the author has obviously spent a good amount of time with the co founders Linda Avey and Anne Wojcicki and has captured their history, their vision and their passion superbly.   Anne Wojcicki is quoted as saying ‘we are at the beginning of a revolution that combines genomics and the Internet.  A number of statements like that attributed to the 23&me co-founders are scattered throughout the book, reminding the reader that this truly is a revolutionary time in genomics.
  • The story of 23&me in the $1000 dollar genome, highlights my own personal opinion that 23&me is an excellent combination of
    • Enabling the public to benefit from genomic technology
    • An educational resource for making knowledge on genomics accessible to  the public
    • A marketing machine, using some of the most novel and innovative marketing methods in the biotech industry, from spit parties to a very engaging integrated social media campaign.
  • The humanization of many of the people he describes in the industry.  Often, these are just faceless characters we read about, and given the subject matter it would be quite easy to portray these visionaries as just crazy scientists with extreme ideas that belong in science fiction movies.  Many of these people, I have been lucky enough to meet and work with.  Davies captures their essence well, highlighting the human side of their vision and describing their personalities, their challenges, the diseases that have afflicted them and their families and even their own fears when coming face to face with their genomes.
  • Leroy Hood‘s perspective that the $1000 genome will bring about a wave of personalized medicine that he calls P4 medicine, personalized, predictive, preventative and participatory with a focus on health and wellness not just disease.

Throughout the $1000 dollar genome, Kevin Davies describes a plethora of examples of personalized medicine success stories, the impact that a genomic scan has already had on individuals knowing their genome has in some cases saved their lives.

The exploration of personalized medicine may seem like a vision of the future but the $1000 genome corroborates my view is that it is here now, it has saved lives, changed lives and it can only get better from here.

Disclaimer: All opinions expressed in this blog are my own and not reflective of my employer’s views.