Precision Medicine, Genomics & 'Open Health'

Traditional medicine, integrative medicine, preventive medicine, predictive medicine, regenerative medicine – and now we have 'precision medicine'.

The purpose of this article is to provide a brief introduction and high level overview of 'Precision Medicine' to health information technology (IT) managers and analysts, along with pointers to key resources or sources of information they might want to explore if they decide to delve deeper into the topic.

Precision medicine strives to identify patients who are more susceptible to certain diseases, who will respond to treatments differently, whose diseases or conditions may progress on a different course than others in the general population, and then designing specific preventive, diagnostic, and therapeutic solutions for these individuals.

In other words, precision medicine allows researchers and health care professionals to direct the most appropriate medicine or medical technology to specific patients based on the unique characteristics of that patient and engage the patient to maximize outcomes.

Genomics & Precision Medicine

According to Brian Wells, Associate VP of Healthcare Technology & Academic Computing at the University of Pennsylvania Health System (UPHS), "The promise of personalized 'precision medicine' will only be realized if health IT is used to gather the rich phenotypes of all patients and link that to their genotypes.”  See article on “What Is The Value Of Health IT?”

The completion of the Human Genome Project ushered in a new era in biomedical research and a path to more personalized medicine. Delivering on those promises has demanded not only access to genomic and phenotypic data on large numbers of individuals, but also tools to enable effective sharing, integration, standardization, and analysis of health related data from diverse sources.

For example, the tranSMART Foundation fosters the development of software and standards to enable scientists from around the world, across industry, academia, and government, to share and use common data. Earlier this year, the tranSMART Foundation announced a partnership with a company called GenoSpace to further expand health data sharing and analytic capabilities.  See Press Release.

GenoSpace has developed robust software systems for securely storing vast amounts of genomic and health data , as well as advanced analytical and visualization tools to make those data available to diverse user communities. GenoSpace for Research provides dynamic analysis, visualization and collaboration tools. GenoSpace for Clinical Care facilitates clinically actionable interpretation of genomic data for precision medicine. GenoSpace for Patient Communities enables patient-centric exploration and advancement of personalized medicine, as well as the return of data to clinical trial participants.

According to Dr. Kogelnik of the Open Medicine Institute, medicine is at a crossroads. He predicts that we will transition from a paradigm of generic 'evidence-based' guidelines to a model of medicine driven by genomics and personalized 'precision medicine'.  See article on Mainstreaming ME Research.

Open Source & Precision Medicine

"Translating the innovations in genomic sequencing into meaningful medical care will require transparent informatics resources that combine 'open source' software and public domain datasets," said Dr. George Church, professor of genetics at Harvard Medical School.

Recently, Curoverse announced the company has raised $1.5 million to accelerate development of the Arvados free and open source software (FOSS) platform for genomic and biomedical 'big data' and to deliver a range of new products based on the platform.  See Press Release.

Arvados is a computational storage platform designed for the biomedical industry. According to Adam Berrey, Chief Executive Officer (CEO) of Curoverse, "We are enabling a new generation of bioinformatics computing systems with a complete stack of commercially-supported, community-driven, open-source technologies that apply elastic computing and big-data strategies to the unique requirements of genomic research and precision medicine."

"The Arvados software and the data collected through Personal Genome Projects can be a foundation for the development and delivery of precision medicine in cancer, neo-natal care, inherited diseases, pharmacogenomics, and a variety of other applications", stated Dr. Church.

“This is an extraordinary time to be in biomedicine,” according to Dr. Buetow of the School of Life Sciences at Arizona State University (ASU).  "New ecosystem models are emerging that use information technology [IT] to reweave the very fabric of biomedicine, ushering in a new era of personalized, precision medicine."  See ASU News.

Issues & Challenges

Including the patient - Precision medicine cannot work without the contributions of individuals who want their own health information (e.g. genetics, blood test results, allergies, medical history) to someday inform a global knowledge network that can better connect innovative research to specific instances of care.

New policies & regulations - According to an article in the New England Journal of Medicine (NEJM) entitled "Preparing for Precision Medicine", the success of precision medicine will depend on establishing frameworks for regulating, compiling, and interpreting the large influx of information tied to the rapid pace of new scientific developments.

New clinical trial & approval processes - The success of precision medicine requires a more streamlined clinical trial and approval processes. Medical research organizations are already calling for regulatory bodies to review the regulation of clinical trials, citing excessively lengthy approval processes. In particular, precision medicine calls for a departure from traditional clinical trial frameworks, with phase 3 trials focusing on a more select patient group. This narrowed focus should facilitate streamlining existing processes.

Ethics, privacy, & security – The need for widespread collaboration, 'open access', sharing of data, and the development of 'open source' software tools are key to the growth of precision medicine.  This will require extensive public discussions that will lead to new rules, regulations, and processes that will need to be put in place over time.

Concluding Observations

The U.S. and other countries are investing in multibillion-dollar projects to implement the current generation of electronic health record (EHR) systems.  Next-generation EHR systems will store a wide range of additional individual-specific data – including genomic information - that will be essential as we focus more on precision medicine. Open source software and open standards will play a crucial role in developing these new systems.

Patient–clinician dynamics must also continue to change. The successful implementation of precision medicine will hinge on patients, clinicians, and other stakeholders becoming more aware that precision medicine is the wave of the future. They will all need to work together to help make it a reality.

Remember - Precision medicine should strive to ensure that patients get the right treatment at the right dose at the right time, with minimum ill consequences and maximum efficacy.