Randy Scott: Bringing Metcalfe’s Law to Genomic Medicine

Each year, the Personalized Medicine Coalition recognizes an individual whose contributions in science, business, and/or policy have helped advance the frontiers of personalized medicine. This year, the Leadership in Personalized Medicine Award was presented to Randy Scott, Ph.D., during the Harvard Personalized Medicine Conference on November 28, 2012 in Boston, Massachusetts. 

Receiving the 2012 Leadership in Personalized Medicine Award from the Personalized Medicine Coalition (PMC), Randy Scott reflected on his success as the founder and former CEO of Genomic Health, but also looked ahead to new opportunities with his latest venture, InVitae Corporation.

Scott received the award this week at the 8th Annual Personalized Medicine Conference at Harvard Medical School. “Randy has transformed our understanding of how medicine can be practiced by creating one of the most successful personalized medicine companies to date,” stated Brook Byers, a partner with Kleiner Perkins Caufield & Byers and a previous honoree. Past winners of the PMC Award include Janet Woodcock (FDA), Elizabeth Nabel (NIH), Ralph Synderman (Chancellor Emeritus, Duke University), and Leroy Hood (Institute for Systems Biology).

After a successful stint at Incyte, Scott founded Genomic Health in 2000 and led the firm for nine years, overseeing the development of the Oncotype Dx gene expression test for breast cancer. He modestly shared the credit with numerous colleagues. “My contribution was I probably did a good job of hiring a lot of people at Genomic Health who are way smarter than I was,” he said, naming in particular co-founder Joffre Baker, CMO Steven Shak, and CEO Kim Popovits.

As a graduate student in the early 1980s, Scott said he had been excited about biotech but worried he was too late. “All the exciting genes had been cloned! TPA, Factor VIII, human growth hormone, insulin,” he recalled thinking. Today, Scott said, “we’re on the precipice of incredible accelerating change in this field… Everything we’ve experienced to date pales in comparison to what we’re going to experience in the next 5-10 years.”

But he also shed some personal insight into the launch of his latest venture, InVitae Corporation. He said he is “unabashedly excited” about the future of personalized medicine. “Personalized medicine is really when disease happens to you—your friends or your family. Suddenly it’s no longer just an industry we’re working in but something so personal, so intense, and so emotional. We should never forget that.”

The Network Effect

Scott said reading Intel founder Andy Grove’s book Only the Paranoid Survive in the mid-90s, during his tenure at Incyte racing to identify human genes, was highly influential. In the book, Grove discussed the impact of Moore’s Law on the revolution in computing; Scott saw parallels with the biotech industry. “The way we were sequencing DNA [at the time] was so embarrassingly simple,” he said. Just as computing costs were plummeting, Scott reasoned it was inevitable that sequencing costs would also fall.

Perhaps more importantly was the concept of “the network effect.” Just as Metcalfe’s Law—the community value of a network is proportional to the square of the number of its users—drove change in the computing world, so too will it drive the future of biotechnology.

“Having a really cheap genome sequenced is really not very useful. We still see articles in The New York Times, ten years after the genome project, [saying] ‘so what?’ At some level, they’re horribly wrong, and at some level, they’re horribly right. We’ve not yet seen the network effect or the full implication of Moore’s Law.”

Scott said the community is still “1-2 years away from the inflection point” where the cost of sequencing reaches the point that will trigger “massive consumer demand.” The value of genome sequencing will be most strongly felt in the network effect. “How we connect that genomic information across millions and millions of individuals… Somebody can be sitting at a computer, link into the network, and find how a mutation and how it correlates with their patient and a patient somewhere else in the world.”

Scott said he was also a believer in what he called the “Law of Finite Genomes.” The human genome is like a complex finite puzzle with about 150,000 pieces (20,000 genes and 100,000 non-coding RNAs). “All common diseases are really rare diseases,” Scott said, with cancer a prime example. “Medicine goes from an infinite game to a finite game,” he said. By comparing lots of genomic information, we can begin to rule things out.

Patients, Patients, Patients 

Scott was inspired to launch Genomic Health when a close friend was diagnosed with colon cancer in 1999. For the first time, Scott was personally struck by the chasm between science/technology and medicine. “We’ve got to bridge the gap—bring the science into clinical practice,” he said.

The focus at Genomic Health, Scott said, was “patients, patients, patients.”

“I’m not sure we had a model other than this maniacal focus on patients that wouldn’t be denied,” he said. If we could really do the science right, the science would sell.” Genomic Health spent an enormous effort on clinical studies.

“Clinical data wins over physicians, and it is physicians that win over the payors,” Scott said. “The onus is on us as an industry to build the value proposition [for payors]… so physicians have to adopt those products. If physicians adopt, they will drive payers to cover.”

Scott left Genomic Health this year to launch InVitae, spurred by the impact of rare genetic diseases affecting members of his family.

In 2000, Scott’s nephew had a daughter with galactosemia. Fortunately, the disorder was diagnosed within 48 hours of birth, and her diet could be changed, otherwise there could have been “a dramatically different outcome.” In 2005, an adopted nephew collapsed on a tennis court and died from hypertrophic cardiomyopathy. Advanced screening could have saved his life, but nobody knew any family history of cardiac disease, he said.

Finally, one of his wife’s relatives had a young son who developed serious seizures at age 2 years. The infant is developmentally impaired and severely autistic. Earlier this year, Scott revealed that exome sequencing of the child and his parents revealed a single de novo point mutation as the putative cause of the disorder. This is unlikely to provide any tangible medical benefit, but “it gives a clue into potential causes of these disorders,” he said.

Ridiculous Goal 

Scott said his goal in launching InVitae was to bring the power of genetics into the real world of clinical practice. “We have a ridiculous goal,” he said. “We want to aggregate all of the world’s genetic tests into a single assay—for less than the cost of a single assay today!”

In other words, InVitae plans to collapse all Mendelian inherited traits into a single assay that can be performed “reproducibly, at high quality and at reasonable cost for the medical system. So instead of going into these diagnostic odysseys… every parent thinking about conceiving a child can know exactly what their carrier status is and what disease risks lie in their family.”

The initial assay will essentially be an elaborate gene panel, but Scott’s plan is eventually that this will lead into whole-genome sequencing (WGS). Scott believes that “within 10-20 years, everyone in any developed health care system will be able to be provided with a low-cost [WGS] analysis at birth… We’ll be talking about managing your genome over the course of your lifetime.”

As for the question of how to deal with the plethora of data, “that’s Metcalfe’s Law, the network effect,” said Scott. “Much of the data won’t be of value to the patient or physician ordering the test. But collectively, they will be massively valuable to the research community.”

We’re big fans of “Free the Data!” said Scott. The universe of clinical genetic data “won’t be a database held by one company or one academic institution, but you’ll see a massive movement over the course of the next decade to make data broadly available within the research community.” This will create a huge disruption in medicine, Scott predicted, a shift from phenotypically driven medicine to more of a genotype foundation as sequencing costs fall and the network builds.

“Everything will drive off the genotype and it will move very fast,” he said. “This is a given. To me, this is the investment thesis. This will be the place to be, the chance to help people suffering from rare diseases. At the end of the day, every disease is rare.”

InVitae is building a strong management team. The company recently merged with Locus Development, a start-up co-founded by Sean George and Michele Cargill, founding scientists at Navigenics. Steve Lincoln and Jill Hagenkord, both formerly with Complete Genomics, also joined the cause this year, as did Reece Hart, former manager of research computing and informatics at Genentech.

– This article was first published at the Bio·IT World website on November 30, 2012.

Innovation Along the Path to Personalized Medicine (Part II)

In my previous entry, I discussed how the Human Genome Project has served as the foundation for additional research that has produced new insights into the genomic basis of disease and resulted in new tools and reagents that continue to generate new discoveries. Every endeavor—even those that may not result in a significant leap in technology or a new targeted drug therapy for patients—has contributed to our knowledge and understanding of the vastness and diversity of our genome, and is propelling us toward the reality of personalized medicine. Indeed, there are examples across disease areas of how personalized medicine is improving our ability to detect, prevent, and treat disease. 

Personalized medicine informs our understanding of disease origin

In the past and perhaps in much of today’s practice of medicine, diagnosis and treatment decisions are based upon observations within a clinical setting.  However, it is becoming increasingly clear that clinical features alone are not sufficient for diagnostic or treatment decision purposes.  Some good examples include:

• Hypertrophic cardiomyopathy (HCM) is a relatively common disorder characterized by an adult onset hypertrophy of the heart muscle sometimes more genes. 
• Noonan syndrome, a childhood disorder that has many manifestations was considered to be one clinically defined entity, but is now understood to be a disease resulting from the mutations in any one of ten or more different genes.
• Adult macular degeneration is an important cause of blindness in older individuals and genetic variants in a particular gene have been identified to be responsible.

Today, many clinicians would not make a diagnosis of these and many other disorders until the patient’s DNA is tested.  Having a more comprehensive picture of the underlying cause of the disease can lead to earlier, more accurate diagnosis, more informed treatment decisions, and better outcomes for patients.

Personalized medicine informs our understanding of disease risk

As we understand the role of specific genetic and genomic variants in the human population, it will become possible to assess the relative risk and absolute risk of individuals for particular diseases. Having such a risk assessment can allow for the development of prevention or postponement strategies for a specific disorder. As an example, our ability to detect individuals at high risk for cardiovascular disease through testing for lipid levels has had and continues to have a major impact on heart disease incidence in the United States and elsewhere in the world.  With seventy-five cents of every healthcare dollar going to the treatment of preventable chronic disease, prevention and early interventions for our most common and treatable chronic illnesses could save a significant amount of money and result in better health outcomes across the country.

Personalized medicine informs our understanding of disease treatment

Another area where genomics has had a great impact is in the area of pharmacogenomics.  Although for many years clinicians and researchers alike have known that not all drugs are equally effective in all individuals, the molecular basis for these differences has not been well understood.  This is changing very dramatically.  Pharmacogenomics is the study of how genetic variation affects a patient’s response to a treatment.  In cancer, for example, we now know that the molecular changes that cause the progression of particular types of cancer are very complex.  In turn, organ-based treatment approaches are not completely adequate.  In non small-cell lung cancer (NSCLC) some tumors have mutations that result in the activation of epidermal growth factor receptor (EGFR) and these tumors are exquisitely sensitive to treatment with some oral inhibitors of EGFR function.  Other NSCLC tumors have mutations in a gene called K-RAS a protein that acts downstream from the action of EGFR and tumors with this mutation do not respond to EGFR inhibitors.  Yet other NSCLC tumors are now known to have to overexpress Her2/Neu and treatment of these tumors with an inhibitor of Her2/Neu may be warranted.  In other lung tumors a gene called Met is amplified and treatment with Met inhibitors (under development) may be warranted.  Yet others have a novel translocation called EML-ALK4 and a drug that inhibits the fusion product appears very promising.  This is but one example of a tumor type where patient stratification is becoming critical for making appropriate clinical decisions.  Having a better understanding of how patients will respond to a drug based on their genetic makeup can lead to more optimal treatment choices, reduced side effects, and overall better patient outcomes.

The use of personalized medicine is beginning to impact many disease areas, and there is evidence that it is already improving the outcomes for patients at a reduced cost to society.  In our current status of healthcare where the costs are increasing at a pace that cannot be sustained by our economy, personalized medicine, illuminated by our ever-increasing understanding of the complexity of the human genome, shines as a beacon for solving some of the most important problems in our fight against disease.

Innovation Along the Path to Personalized Medicine (Part I)

Ten years ago, Bill Clinton and Tony Blair made a joint announcement that an international consortium had completed the draft sequence of the human genome.  The following year, papers describing the mapping and sequencing of the human genome were published by the public effort and a biotech company, appearing in Nature and Science respectively.  These were indeed, historic events as scientific innovation led us to decipher our genetic blueprint.  This year, we can mark this occasion by taking stock of what advances have occurred since the genome sequence and how its discovery continues to inform our understanding of medicine and influence medical care.

Diversity of the human genome

The International HapMap project was among the first to build on the initial sequencing of the human genome, and sought to achieve greater understanding of the diversity of the genome. What we discovered is that every human being has approximately the same amount of genetic information.  The similarities in the sequence of DNA, among all populations in the world, illustrate just how similar we are at the genetic level and put a spotlight on our common origins.  But there are differences among us.  If we compare the DNA of any two individuals their sequence would differ in approximately one out of every thousand nucleotides.  Some of these changes occur in coding sequences and others in non-coding regions of the genome. Some of these changes are certainly benign and others are certainly important and result in the diversity of the individuals.  Much research remains to uncover the connection between our genetic makeup and health and disease.  A large catalog of the genetic differences among individuals and populations is now publicly available and continues to grow, feeding researchers’ need for this valuable data to inform their work.

Genomic basis of disease

One of the reasons for launching the human genome effort was to provide the tools and reagents for rapid identification of the human genes and their variants responsible for human health and disease.  For example, a large number of genes important in Mendelian disorders have already been identified.  There is a large body of evidence that many common disorders such as cancer, diabetes, autoimmune disorders, and psychiatric disorders also have a strong genetic contribution.  Building on years of scientific effort, researchers have revealed strong associations between specific genetic variants in the human populations and their susceptibility to human disease.  Despite periodic criticisms of the genomic approaches and their cost, it is clear that genetic approaches are opening new doors to our understanding of human health and disease.  These efforts will continue.

Decreasing cost of whole genome sequencing

An important driver of the genomic revolution is the rapid reduction in the cost of DNA sequencing.  Many estimates indicate that the description of the first human genome sequence cost about three billion dollars.  In 2010 several commercial entities are offering human DNA sequence and sometimes its interpretation for less than $10,000.  This is close to five orders of magnitude in the reduction of the cost of sequencing and it is anticipated that this cost would go down by one or two orders of magnitude to $1,000 and perhaps even $100 in the not too distant future.  By any measure, this cost reduction has to be considered nothing short of phenomenal and a tribute to human ingenuity in its efforts to advance scientific discovery.

Advent of personalized medicine

What has been the impact of all these genomic developments on medicine?  Identification of genes involved in disease and how loss of function, alteration of function, or acquisition of new functions in the gene products are providing clues to our understanding of the molecular etiology and molecular pathology of disease.  Such information is critical for prediction of disease susceptibility, progression, and therapeutic response on an individual level.  The use of genetic and genomic information for diagnosis, prognosis and treatment decisions is called personalized medicine and it is gaining greater traction in medical practice.

In his next entry, Dr. Kucherlapati will continue the discussion of how the Human Genome Project has served as an important driver on our path to personalized medicine, and will offer examples of how genomic medicine is already having an impact on the diagnosis, prevention, and treatment of some diseases.

The Genomics and Personalized Medicine Act

This summer marked the 10^th anniversary of the sequencing of the human genome.  In the course of these ten years, advances in genomic technologies have begun to bring forth the promise of personalized medicine to the clinic.  And as this clinical utility continues to expand, our national legislative priorities will also need to reflect this change in medical practice and create regulatory policies that support creation and adoption of targeted therapeutics and personalized medical programs.

The coming of August starts to signal the close of summer, and with it, the August recess for Congress when our representatives head back to their districts to spend time with their constituencies. However, with the mid-term elections only months away, this August recess also signals a slowdown of legislative efforts and a focus on campaigns. Among the unfinished business that will remain after the 111^th Congress closes and the 112^th is elected is HR 5440, the Genomics and Personalized Medicine Act of 2010.

The Genomics and Personalized Medicine Act of 2010 is an effort to accelerate research, coordinate federal activities across agencies, and ensure delivery of personalized medicine to the American public.  The bill would help guide this new age of discovery and medicine in the second decade beyond the sequencing of the genome.

Built upon then Senator Obama’s Genomics and Personalized Medicine Act of 2006, HR 5440 attempts to expand the provisions of the 2006 version by mandating the creation of the Office of Personalized Healthcare under the Secretary of Health and Human Services.  This office will be the point for policy coordination regarding personalized medicine strategic planning, education, coverage and reimbursement, and product regulation.  The bill will provide $150 million in funding for personalized medicine research grants linking genetic profiles with individuals’ biospecimens.  The bill would also strengthen the FDA’s regulatory authority in this area, clarifying requirements for diagnostic tests and potentially allowing FDA to require companion diagnostic tests for new drugs entering the market.

Currently the bill has received little notice in Congress, having only six cosponsors, despite it being a high priority of then Senator Obama in 2006.  In addition, this bill will face another hurdle in moving forward, as it was introduced by Rep. Patrick Kennedy who will not seek reelection this year.  In the next Congress a legislative champion will need to be identified to introduce the bill, much less generate momentum to move the bill forward.

Legislation moves slowly – the science of personalized medicine, however, does not.  If this past decade has shown us anything, it is that genomic technologies are rapidly moving towards clinical applications.  Establishing the appropriate legislative and regulatory frameworks to fully capitalize on the potential of our scientific advances can contribute greatly to the overall healthcare goals of our nation.  Researchers, clinicians, and advocates will all need to play a role in educating our legislators and policymakers of the importance of good policy that supports personalized medicine and disruptive innovations. Strong encouragement to reintroduce legislation supporting personalized medicine policy will need to be emphasized by all parties involved in improving health.

A 10th Anniversary Reading List

It comes as no surprise that The Age of Personalized Medicine Blog isn’t alone in recognition of this momentous anniversary for the human genome sequencing. Many are eager to discuss the ramifications of this milestone, which is serving in some way as a litmus test for the potential of the genome, and the revolution its sequencing is expected to bring. Some are celebrating the successes we’ve achieved in personalized medicine in only one decade; others are impatient for the arrival of more significant advances; and some are skeptical that we will ever get there.

As you might see at any milestone, a lively debate is taking place.  I remain convinced that personalized medicine is not only achievable, it is also changing the way medicine is practiced here and now, and is laying the groundwork for more successes in the future.  See The Case for Personalized Medicine for some of those examples.

In the April issue of Nature, referencing his decade-old predictions on the adoption and implementation of personalized medicine, Francis Collins remarked, “It is fair to say that all of these predictions have come true, with some caveats that offer important lessons about the best path forward for genomics and personalized medicine. The promise of a revolution in human health remains quite real.”[i] The primary challenge as we look to the future is that we ensure that the lessons we have learned thus far—both from successes and “dead-ends”—are applied in our continued efforts to achieve this revolution.

We’ve summarized below some of the recent coverage related to the anniversary.  I invite you to take a look at what others have written, and contribute to the conversation by letting us know what you think.

New York Times

The New York Times recently ran a series of articles and an editorial on the human genome at ten.  The first article A Decade Later, Genetic Map Yields Few New Cures discusses how additional research has revealed that the genetic roots of disease are extremely complex, making the development of effective target therapies a greater challenge than was originally anticipated. The second article, Awaiting the Genome Payoff, shows that researchers and drug companies are investing heavily and still maintain hope for genomic medicine.  The article points to examples Merck, Bristol-Meyers Squibb, Genentech, Human Genome Sciences and other companies that are using molecular targets to transform their drug development process. The articles prompted a number of Letters to the Editor, including one from Leon E. Rosenberg of Princeton University and Huntington F. Willard of Duke University Institute for Genome Sciences and Policy.  In their letter, they noted, “Scientific discoveries have always been separated from their clinical contributions, not by 10 years, but usually by 25 or more.  This has been true for every major improvement in health care…The genome’s secrets will accrue to the benefit of sick as well as healthy people, but not overnight.”

Reuters

Last week, Reuters published an article entitled Ten Years On, Genomic Revolution Only Just Starting.  Andrew Witty, Chief Executive Officer of GlaxoSmithKline, echoed the sentiment reflected in the title, “The great mistake everybody made was thinking that the decoding of the genome would somehow yield a drug. It’s got nothing to do with yielding a drug – it’s got everything to do with yielding a whole array of components and ways of looking at a problem which, together with other things, will yield drugs. It’s going to take time.”

For a more comprehensive status check from Reuters, read their report A Golden Age of Genomics? A Decade after the Human Genome Was Decoded, Cures Are on the Horizon.

Nature

In April, Nature published an issue dedicated entirely to The Human Genome at Ten which included editorials from the two men who led the charge in the draft sequencing of the human genome in 2000 – Francis Collins, then head of the Human Genome Project, and Craig Venter, then head of Celera Genomics. When the issue was released, Nature conducted an online survey of its readers probing the question “What did the human genome sequence mean to you?” Last week, they published the results of the survey, as well as an analysis of the findings in the article Science after the Sequence. While the general consensus is that the true revolution of the human genome is still taking shape, many agree that “it has transformed the professional lives of scientists, inspiring them to tackle new biological problems and throwing up some acute new challenges along the way.”

New England Journal of Medicine

The New England Journal of Medicine has also embarked on a series dedicated to genomic medicine in recognition of the anniversary. The series began in May with an editorial from Harold Varmus, who was recently nominated by President Obama to serve as the director of the National Cancer Institute. NEJM also published  Genomic Medicine — An Updated Primer  which offers a crash course in DNA, RNA, SNPs, GWAS, and all the “-omics” in between.  The series continued in June as NIH Director Francis Collins and FDA Commissioner Margaret Hamburg described the scientific and regulatory structure, and the strides that FDA and NIH are making, that will illuminate The Path to Personalized Medicine. Collins and Hamburg note, “Together, we have been focusing on the best ways to develop new therapies and optimize prescribing by steering patients to the right drug at the right dose at the right time.” And indeed, efforts such as the NIH-funded Clinical and Translational Sciences Award program, FDA’s Voluntary Genomic Data Submission program, and the recently announced FDA-NIH collaboration offer just a few examples of the agencies’ confidence that personalized medicine is not only achievable, but represents the best path forward in providing optimal patient care. 

Now that you’ve taken a look at what others have to say, please let us know what you think about this milestone and the accomplishments in science, business and policy over the last decade.   

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[i] Collins, Francis. “Has the Revolution Arrived?” Nature 464, 674-675 (1 April 2010).

Health IT to the Rescue: Managing Data in the Age of Genomics

The 10^th anniversary of the drafted human genome, released by the Human Genome Project in 2000, is a milestone for personalized medicine.  Our mantra – “get the right intervention to the right patient at the right time” – all but mandates the roll-out of genomic information in clinical practice.  As we come closer to the goal of the $1,000 genome, I can now imagine a world in which an individual genomic profile allows us to tailor cancer treatment to a patient’s personal situation. In the next decade, genomics will provide us with the opportunity to refine treatment planning so that we use drugs when they are going to work, spare patients unnecessary side effects, and avoid wasting precious time, emotional resources, or funds on drugs that are unlikely to be effective.  Even intimately personal decisions, such as how to preserve fertility, can be elucidated by and based on genomic data mixed with an understanding of effectiveness and toxic risk.  

Coexisting with excitement at the possibilities of genomically-guided personalized medicine is a pervasive angst.  The profusion of new information can be daunting.  How will I know all of the relevant inputs into decision-making in the era of personalized medicine?  How will I balance multiple important factors for each patient, without a roadmap or algorithm for this new type of clinical decision-making?  In personalized medicine, when treatment choices rely on unique genomic data for each patient, the quantity of potential data points to be factored into any single clinical decision boggle the mind.  How can I intelligently coordinate and consider all of this data?

Recent progress in health information technology (HIT) and in advancing our country’s data infrastructure provide hope that technology may come to the rescue, saving us from a morass of data and helping us make sense of the new plethora of information.  The Human Genome Project yielded vast amounts of data; its completion required development of interoperable data, novel statistical methods, and new HIT systems.  These same tools can also help us use genomic information, as well as rapidly increasing bodies of clinical and research evidence, to inform decision-making.  Genomically-guided biomarkers and predictive tests will help generate personalized information, but tools will be needed to help clinicians understand and use the resulting data, integrated with myriad other personal data types like blood chemistries, clinical exam findings, pre-existing toxic exposures over a life-time, and patient reported concerns. The development of personalized clinical decision support tools and prediction models, tailored and designed for efficient use at the point of care, will assist us in connecting the dots between the promise of The Human Genome Project and the vision of personalized medicine. May this 10^th anniversary energize us to move from theory to action, and to strive for ever more finely individualized care that optimizes outcomes for our patients.

The Age of Personalized Medicine Celebrates the 10th Anniversary of the Human Genome Project

On June 26, 2000, Francis Collins and J. Craig Venter announced the completion of the draft sequence of the human genome. Although it would be another three years until the project was complete, the event was nothing short of history-making, and has been foundational in the pursuit of personalized medicine.  This year marks the 10^th anniversary of that landmark achievement, and indeed there is much to celebrate. And while remarkable achievements have ensued, the promised revolution in our understanding and approach to treating disease is still just beginning.

At the White House event where Dr. Collins and Dr. Venter made their announcement, then President Bill Clinton made bold predictions of its import. “Genome science will have a real impact on all our lives—and even more, on the lives of our children. It will revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases.”

Today, the list of targeted therapies and treatments is growing, and over 200 product labels recommend genetic testing or point to the influence of genetic variation on drug response or safety. All of these discoveries have been guided by an ever-increasing understanding of the molecular underpinnings of disease and the genetic predisposition of the patients they affect.

The Human Genome Project required an investment of over $3 billion and 13 years to complete. Today, enabled by innovation in high-speed sequencing technology, the $1000 genome appears to be within reach. With these advances, genomic sequencing has made its way out of the lab and into the hands of clinicians and consumers. Genetic tests are available to guide treatment decisions in the clinic for drugs like Selzentry® (maraviroc) for the treatment of HIV and Tarceva® (erlotinib) for the treatment of lung cancer, and direct-to-consumer genetic tests that can provide information about an individual’s predisposition for some health conditions are also on the rise. As these tests become increasingly available, we must work to ensure that they are scientifically grounded, and that they are supported by the appropriate policy and regulatory framework to govern them and protect patient interests.

These examples are the tip of the iceberg when it comes to the accomplishments, challenges, and opportunities that have succeeded the Human Genome Project.  In the coming weeks, leaders and visionaries from across the personalized medicine landscape will share their perspectives on the impact of the Human Genome Project, and how it continues to reverberate in our efforts to align policy, science, and clinical care to enable personalized medicine.

I invite you to join in the discussion. As the conversation unfolds this month, please share your thoughts about where the Human Genome Project has brought us, and the path that lies ahead.