The promise of genomic data is the major impetus behind the growing movement toward precision medicine. Although the U.S.'s Human Genome Project was completed in 2003, the high-level mapping of the genome it provided did not give us the specificity of knowledge needed to use genomics in everyday healthcare.
While we now know a great deal about how our individual genetic codes impact our health, we still have far more to learn. The map of the human genome gave us the general layout of the land, providing us with clues as to where to start looking for evidence about the relations between our genes and our phenotypes.
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Yet, there is still a long way to go before we can develop the holy grail of genomics: the ability to understand how individuals and their genomes interact to cause disease, and thus use an individual’s genomic data to improve health and treat diseases. Many expect that the efficiencies realized with that understanding will be a big step toward truly treating each individual with the very best, personalized care.
We are making some progress in this direction. For example, pharmacogenomicists – which combines the study of drugs with the study of genes – now understand that differing genetic codes may influence the effectiveness of a drug in different individuals. Our genomes direct our metabolisms, so minor differences in parts of our codes can mean significantly different abilities to metabolize foods and chemicals.
In pharmacogenomics, scientists are learning that tailor-made drugs or personalized doses of existing drugs, designed to match the genetic predispositions of groups of individuals with similar genetic traits, can help to save lives and treat illness more efficiently. For now, the numbers of pharmacogenomics breakthroughs remain small but they are growing. Scientists expect that over time we can deliver truly personalized treatments using diet and targeted chemicals to drastically improve outcomes.
Metabolomics, nutrigenomics, pharmacogenomics, and all the “omics” remain dependent upon a lot more than merely mapping the human genome. We need to map genomes of the entire human biome, or at least all of the organisms needed for healthy functioning, like our gut bacteria.
We further need to do a lot of deep correlation of data, going beyond the strings of nucleotides that are becoming increasingly cheaper to sequence. We must look at not only population genomics but also individual genomics data: the relation of an individual’s genomic code to their environment, development and flourishing. This is where typical studies run into significant cost and practicality problems.
To get the genomic data we want, we need enormous studies that follow people for long periods of time and collect ever increasing amounts of data about their daily personal lives. A few national efforts in the U.K. and elsewhere have attempted to enlist citizens into such large-scale studies, but the depth of the information into which they can practically delve has been rather limited. It is also not easy to convince millions of people to sign up for such studies. The difficulty increases with each new publicized breach of individual data privacy from large databanks.
The most successful efforts to build such databases have come from commercial quarters. Companies that gather DNA to map ethnic heritage or origins have built multidimensional genomic and phenotypic databases useful for the future of genomic research and for realizing the promise of precision medicine. However, this value has only recently been publically understood and recognized.
Completed health surveys have actually allowed these companies to develop curated datasets that can help pharmaceutical companies and researchers develop ever better models of the various “omics.” The customer questionnaires are not mere snapshots, but evolving interactions digging deeper into the changing health and behavioral characteristics of direct-to-consumer testing customers.
Recently, a number of companies have emerged to challenge the current models, suggesting that the public deserves to control and own their genomic data.
Many of these emerging companies have embraced blockchains as a means of assuring better distributed ownership and control. Blockchains provide permanent, virtually immutable encrypted ledgers of transactions and thus a new means of accounting for ownership and even accomplishing payment.
A dozen such efforts are underway, highlighting that the future for genomics will likely involve blockchain in some capacity. Eventually, we can expect blockchain to extend beyond genomics data and be leveraged for medical records in general.
Ultimately, the technology can be used by the large direct-to-consumer testing companies to help further spread the wealth of the research and to compensate individuals directly for contributing their valuable genomic data. The promise of cheaper, more efficient and true precision medicine will also be furthered as genomic blockchains take in data from cheaper whole genome sequencing and deliver even more precise data for use in research.
As “omic” data becomes broadly used and the flow of data and value occur simultaneously and efficiently, our individual healthcare and costs will improve. Treatments will become deep and well-informed transactions of rich data, building a cycle of medicine and research that continuously improves the care of individuals and populations.
The views and opinions expressed in this blog or by commenters are those of the author and do not necessarily reflect the official policy or position of HIMSS or its affiliates.
Blockchain and distributed ledger technology are taking hold in healthcare as the industry learns more about the potential to improve patient care and reduce costs.