Author Archives: Hannes Smarason

About Hannes Smarason

Hannes Smarason is CEO of NextCODE Health, a genomics leader. He is the former CEO of the FL Group (formerly Icelandair) and Chief Business Officer of deCODE Genetics, an Iceland-based genomics company.

The Technologies That are Key to Unlocking Genome Analysis

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Lower-cost genome sequencing, genomic analysis tools support personalized medicine

Lower-cost genome sequencing, genomic analysis tools, and reference databases for human genomes are the “3-legged stool” that will help the world reach personalized medicine.

Genome sequencing technology available today can accurately sequence a whole genome from an individual’s test sample for a surprisingly low cost—a few thousand dollars (and dropping fast). As a result, the adoption of this technology is rapidly expanding as medical centers around the world embrace its utility in informing healthcare decisions—an emerging reality of personalized medicine.

Three important areas of technology progress have enabled the medical community to reach this point:

  1. Lower-Cost Genome Sequencing: Major technological advances have reduced the cost of sequencing to nearly $1,000 or less, a critical milestone to enable the use of sequencing as a mass-market product for medical care.
  2. Genomic Analysis Tools: Since the human genome was first sequenced more than a decade ago, an increasingly robust body of research has showcased the links between mutations identified in the genome and disease risk. Informatics tools have been developed by medical centers and genomics companies to apply to whole-genome samples. Increasingly, these genome analysis tools will need to adapt to the steady pace of new genomic linkages to disease and to operate at a level approaching “big data.”
  3. Reference Databases for Human Genomes: There are a growing number of robust databases of human genomes, including data for healthy people or those with certain diseases.  When properly analyzed, these databases offer the potential to provide the medical community with a reference library against which to compare genetic data. Large-scale, high-quality databases are an essential element to cross-reference a patient genome to guide more informed medical decisions.

These three technology domains represent the “3-legged stool” that will help the world reach personalized medicine. The technology is in place, and the corresponding insights and uses are expanding every day. Yet there are challenges to be resolved before implementing these tools on a universal basis.

For example, logistically, how will new DNA and supercomputing equipment be accessed by medical centers, and how will the data be stored? And more importantly, what is the most efficient way to compare an individual’s genome to the massive body of genomic information available to help inform medical decisions for that patient?

One important part of the solution: we must turn to “big data” solutions to manage and make use of the enormous amounts of data produced through sequencing. The whole-genome sequence of a single human is roughly 100GB—that’s the entire storage capacity of a single Macbook Air®.

The progress to date has been amazing. Yet the opportunities ahead are even more extraordinary to improve the speed, accuracy, and accessibility of genomic information to improve human health.

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Personalized Medicine: The Future is Almost Here

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The new era of personalized medicine.

The achievement of low-cost genome sequencing and the use of genomic data to better understand diseases are advancing the exciting new era of personalized medicine.

It’s been more than a decade since the human genome was first sequenced. Since then, we have been on the journey of applying this profound new discovery to create personalized medicine and advance human health.

Two significant triumphs along this human genome journey:

  • Using genomic data to better understand diseases; and
  • Achieving low-cost genome sequencing.

Each of these accomplishments has been a stepping stone into the exciting new era that is dawning now: where genomic information is becoming integrated into medical care.

Using Genomic Data to Better Understand Diseases

Let’s take a look back at the early days of using genomic data to connect the dots between genetic mutations and disease. From 1997-2004, I was part of the leadership team at deCODE, the Icelandic genomic company. This was the period when deCODE was building the world’s most productive human genomics platform, with a database of  tens of thousands of individuals who participated in genetic studies and including the largest database of genomes to this day. deCODE’s genomic engine was able to successfully identify the genetic variations associated with human disease. This resulted in dozens of groundbreaking discoveries that were published in major, peer-reviewed journals.

The legacy of deCODE was the creation of an industrialized platform capable of massive storage and analysis capabilities. This enabled researchers to crunch genomic data to gain insights about genetic variants, or risk factors, associated with many common diseases. deCODE’s premise was that once the genetics of disease was better understood that information could be used to create new ways to diagnose, treat and prevent disease. However, when I left deCODE in 2004, there were still barriers to overcome before this genomic information could be widely applied to the level of an individual patient. Chief among them was that the cost of genome sequencing was still prohibitively high. (deCODE was subsequently acquired by Amgen).

Achieving Low-Cost Genome Sequencing

Back in 2004, the cost to sequence a single human genome was hundreds of thousands of dollars. Today that cost is a few thousand dollars (and, in fact, fast approaching $1,000) for a whole genome sequence. DNA sequencing costs continue to fall, as speed and accuracy increase.

This means we are rapidly approaching a tipping point where, as the sequencing of human genomes becomes more economical, its adoption in the medical community becomes more widespread and genomic data can become more routine in medical care. This is why personalized medicine is becoming a reality.

The Era of Genome Sequencing in Medical Care

The steep drop in the costs of sequencing, combined with the explosion of research on gene variants and disease, mean the time is fast approaching when genome sequencing will become routine in medical care. Today, pathologists perform blood cultures to decide which antibiotics will stop a patient’s bacterial infection. Soon a patient sample can be taken to perform a genome sequencing to analyze the genetic characteristics of a patient to determine ways a disease can be prevented or, if they are sick, which treatments might work best for their disease.

The body of genomic knowledge and the large databank of human genomes built by pioneers like deCODE established the key building blocks that enable genome sequencing to have predictive power for individual patients. As more human genomes are sequenced and more genetic variants are associated with disease, the predictive power of knowing about risk genes and effective treatments for each patient – a.k.a. personalized medicine – will become an essential part of medical care.

Genome Sequencing Being Implemented by Medical Centers

In preparation for the future of personalized medicine, major medical centers in the U.S., Europe and Asia are actively beginning to install DNA sequencers and supercomputers as important tools for integrating genome sequencing into medical care. These medical centers are taking initial steps toward the routine sequencing of every patient’s genome to define the ideal course of prevention and treatment based on variants found in a patient’s genes.

Evidence of this adoption of genome sequencing by medical centers appeared in an article in The New York Times in April 2013 citing that:

  • Medical centers in New York City are spending more than $1 billion on new genomic research centers;
  • Several hospitals around the U.S. are undertaking systematic genome sequencing in patients;
  • Mount Sinai Medical Center has a program in which 24,000 patients participate in a biobank to include their DNA sequence and research over their lifetimes;
  • Memorial Sloan-Kettering Cancer Center sequenced 16,000 tumors from cancer patients in 2012; and
  • Phoenix Children’s Hospital opened a new institute in December 2012 to sequence the genomes of 30 percent of their childhood cancer patients.

For now, the use of whole genome sequencing in medical practice is still in its infancy, but the pace of progress continues to accelerate. Clearly, genome sequencing will soon become part of the nucleus of medical care. This will herald a new era in personalized medicine revolutionizing healthcare as we know it and transforming our lives. When do you think genome sequencing will become a part of the medical decisions in your life?

Myriad and the Supreme Court: A Battle of Ownership in the Field of Genetic Testing

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Supreme Court BRCA gene patent

The unanimous decision by the Supreme Court Justices to strike down patent claims by Myriad Genetics on the BRCA gene is a milestone that will greatly shape the future of the genetic testing industry and, in fact, accelerate progress toward the use of whole-genome sequencing for patients well beyond breast cancer.

Recently the Supreme Court struck down patent claims by Myriad Genetics on the BRCA gene. The Court ruled that while synthetically produced DNA may be patentable, isolated genomic DNA (gDNA), discovered in nature and separated from its environment in the cell, is not patent-eligible.

The unanimous decision by the Supreme Court Justices has significant implications for patients, physicians, and the health care and life sciences industries. In many ways, this is a milestone that will greatly shape the future of the genetic testing industry and, in fact, accelerate progress toward the use of whole-genome sequencing for patients well beyond breast cancer.

Within a day of the Court’s verdict, 10 companies announced their intention to compete with Myriad—and more are sure to follow, as BRCA has proven to be a very relevant gene for assessing risk levels, disease targets, and potential treatments.

While this industry flurry illustrates the potentially significant commercial opportunity here, the greater implication is that the landscape is beginning to shift toward sequence analysis on a genome-wide basis rather than on individual gene testing.

Because fundamentally, the gene-by-gene approach to genetic testing that would be necessary if individual companies had patents on certain genetic tests is un-economical and wasteful, compared with the scope of knowledge and insights to be gained from a whole-genome sequencing analysis. As evidenced by Myriad’s recent announcements to abandon individual BRCA testing by 2014, it seems they also acknowledge this trend.

Ultimately, then, the future of competition in genetic testing will be driven by the ever-improving tools for sequencing, managing genomic data, and manipulating large data sets—and not simply by patents on DNA sequences discovered in nature.

Angelina Jolie: Genetic Testing in the Mainstream Spotlight

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angelina jolie genetic testing decision

Angelina Jolie is perhaps the first highly visible public figure to “endorse” the idea of gene screening and make a very personal, radical medical decision as a result.

The May 14 New York Times featured an op-ed from recognized actress Angelina Jolie, entitled “My Medical Choice.” The piece recapped why she had her genes sequenced, and why she made the decision to undergo prophylactic bilateral mastectomy upon finding that she carried a very high-risk mutation in her BRCA gene. That mutation gave her a high likelihood of getting the same type of cancer that killed her mother.

Ms. Jolie is perhaps the first highly visible public figure to “endorse” the idea of gene screening and make a very personal, radical medical decision as a result. Her decision is a poignant example of the recent trend toward consumer-driven healthcare, wherein consumers take on a partnership role with their doctor in making major decisions, informed by science, which will greatly impact their future.

This trend will only accelerate as more technologies like whole genome sequencing are developed to aid in the decision-making process. As consumers gain increased access to medical information, they are more proactively seeking solutions that work for their personal circumstances.

The challenge for all of us in the health care industry is to embrace this empowered patient—and to work with them to ensure that they are part of making the best decision for their individual situation.  Embracing patient empowerment implies new attitudes for physicians and health care providers, as well as new economic considerations for hospitals, insurance companies, and service providers.

It should be noted that Jolie was among the minority of the population who can currently afford to seek the data, information, and counsel she needed to help her make her medical choices based on her established family risks.

However, as technology evolves and expanded uses for genetic testing helps to drive industry-wide economies of scale, these types of tests will become more broadly available to everyone. Ultimately, these tests and the medical care that they enable will become a routine part of mainstream care for all.