Genomics Medicine: Deriving Value from the Human Genome

“Mission Accomplished”.  Some remember this as the phrase from President George W. Bush’s speech on May 1, 2003 aboard the U.S.S Lincoln aircraft carrier during the Iraq war.  Never mind that he never uttered the phrase, and the banner behind him was meant to celebrate the U.S.S. Lincoln’s longest combat mission.  In later years, the phase came to symbolize how much further the U.S. would need to go and how unfinished the work would be to rebuild a broken Iraq.  Major mission completions are now announced with a sobering caution.

At around the same time, just two weeks earlier in April 2003, the Human Genome Project announced that the 13-year, $3 billion, international collaboration to sequence, identify, and map all of the genes that comprise the human genome had been completed.[1]  Today, fifteen years later, we are still unravelling the human genome’s meaning, and perhaps not surprisingly, the full sequence still really isn’t finished.  In fact, those in the know like Craig Venter and Eric Lander have recently noted its incompleteness.[2]  Researchers are still discovering important new regions of the genome that have significant implications in human disease.  Stretches of highly repetitive DNA sequences and the importance of locations near the centers and the ends of chromosomes are only now being revealed.  Understanding how DNA in these regions is replicated and expressed may hold the key to determining how individuals differ and how health should be managed differently based on each individual’s genome.  In many ways, the true mission – to improve the treatment of every patient’s disease with the information from the first human genome – is just beginning.

We are seeing the benefits of the earlier work mapping the human genome in the diagnosis and treatment of disease.  Nowhere is this more impactful than in cancer, a malady driven by changes in a patient’s DNA.  Targeted therapies that are meant to act upon tumor cells with a specific mutation have helped to markedly improve the 5-year survival rates for aggressive cancers of the blood, breast, skin, GI tract, and other difficult to treat conditions.  Identification of common mutations in different cancers has resulted in more meaningful diagnostics to guide more accurate therapy decisions.  And the very definition of the type of cancer being diagnosed in a patient is shifting from “where” to “what” – from a tissue or organ designation to the identification of what genetic changes are in the tumor cells.  Many of the latest, most exciting cancer treatments, such as immunotherapy and engineered cell therapy have become possible due to a molecular understanding of how those therapies work, discoveries accelerated by the availability of the DNA sequences behind the genes involved.

Today, we are able to talk about second and even third generation targeted therapies for some of the earliest characterized, genetically-driven cancers such as Chronic Myeloid Leukemia (CML).  Our understanding of the genome and the functional consequences of specific mutations has enabled us to develop therapies specifically targeting mutations as cancer cells evolve to resist treatment.  As of June 2018, the U.S. FDA lists 101 approved targeted therapies for the treatment of different cancers[3], far more than the handful available when Imatinib was approved for CML in 2001.  And as a milestone for genomic data defining treatment of disease, last year the FDA approved the use of an immunooncology drug in treating cancer based on tumor cells that display genomic instability defects known as Microsatellite Instability – High (MSI-H) or mismatch repair deficient (dMMR).[4]

While immunooncology and long-term, durable responses in CML are some of the successful examples of “genomic medicine” in treatment of genetically-driven diseases, barriers to wider use of genomic information need to be addressed before the benefits of this new type of healthcare are realized by more than the lucky few in clinical trials.  One of the most important, yet rarely acknowledged barriers is the lack of a framework for individual genomic data ownership and accountability for data use.  An individual’s genomic data is as precious a resource as financial, familial, educational, and any other of the kinds of data that individuals care deeply about.  Governments have rules to protect Personal Health Information and there are even national laws such as GINA for genomic data; however, there is a dearth of cases that could set strong protection precedence for individuals.[5]  Companies that perform DNA sequencing often include terms in their provision of services that allow them to benefit from all individuals’ sequence data.  Healthcare systems that perform biopsies of tissue used for DNA sequencing take ownership of an individual’s tissue.  Laws such as GINA may protect individuals from discrimination in healthcare or employment; but other areas such as life insurance are not covered by the law.  Estimates are that greater than 100 million and possibly up to 2 billion individual human genomes will be sequenced within the next decade.[6]

Creating an irrevocable right of each individual to his or her own genome sequence would create more certainty for individuals and reduce the ambiguity over who can do what with it.  Existing laws meant to protect the privacy of individuals and their data could be expanded to cover DNA sequence data from individuals.  Finally, establishing ownership for an individual’s genome sequence transforms the information into an asset rather than something of unknown value.

If individual genome sequence data can be categorized as an asset, technologies and exchange systems for those assets can be created to solve another major barrier to genomic medicine adoption; namely the lack of applications, technologies, and demonstrable value for the individual in using the data.  There is a clear unmet need in identifying utility of the data.  Several studies have shown that physicians and healthcare institutions frequently point to this issue; however, few studies have been conducted on individuals who have derived clear benefit from using their own genomic data.  Despite this, the popularity of companies such as Helix, Ancestry, and 23&Me, demonstrates that individuals are very interested in learning more about their genomes.  What is lacking, are tools that enable each individual to understand and explore their own genomes.  Software such as Microsoft Office, exchanges such as online stock trading systems, and new technologies like blockchain are examples of tools that enable users to work with other data that have asset value to individuals.  Applications that allow a user to manipulate genome data in human interpretable ways can drive services that provide genome sequencing under the terms that individuals should demand (i.e., the data is owned by the individual with no rights to the sequencing company) and drive technology platforms that enable individuals to share information and/or transaction information using their genome data.  Individuals who have ownership of their genome data and the ability to use the data for transactional purposes could decide how and for what reasons their DNA sequence can be shared and used.

In addition to democratizing genome data by putting the ownership and tools in the hands of individuals, systems that enable individuals to explore and establish value to their genome data could also create value in the data that transfers to subsequent generations.  Information about an individual’s genome data history (e.g., parents, grandparents, siblings, children) can help determine health decisions for future generations and also provide missing information for individuals without access to prior genome data (i.e., adopted individuals).  Systems that securely record, store, and enable access across family generations would provide a platform for generational transfer, much as financial institutions have enabled transfer of financial assets from generation to generation.  Genome-specialists and genome-centric entities trained in uncovering the value of genome data could guide individuals, similar to how financial advisors do so for wealth management, and these types of services would help address the last major barrier to genome data usage, namely education.  While physicians, scientists, genetic counselors, and others may know enough to evaluate some of the genome data for an individual, individuals themselves would need services to help guide them on understanding the complete value of their whole genome.  Other capacities, again, such as financial planning have been created to educate individuals on complicated topics such as retirement planning, and the same could be built for genome data.

Because we are still learning about human biology and the causes of disease, knowledge will change over time, making it critical to create useful systems for genome data analysis, sharing, and preservation.  The practice of genomic medicine will continue to grow as our knowledge grows.  Now would be a great time to build the systems and processes necessary to allow every individual to benefit from their own personal genomes.  While completing the map of the human genome remains an unfinished mission, in this sense, the mission is now the beginning of an opportunity to create novel solutions for truly generating benefit from genome data.

  5. Since 2010 when GINA became enforceable, charges filed with the U.S. EEOC averaged 262 per year, representing between 0.2% and 0.4% of all cases each year.
  6. Stephens, Z. D. et al. PLoS Biol.13, e1002195 (2015)

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July 26, 2018






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