Sean Gordon is our #RARETech columnist
The twin terms, Personalised Medicine and Precision Medicine came into the vernacular in the late 1990s and early 2000s as a consequence of the sequencing of the human genome. Today it is a hot topic much discussed in blogs, journals and at conventions. It also become an initiative of the US Government through the Precision Medicine Initiative
This new paradigm has the potential to save and improve the lives of millions of people worldwide as well as saving billions of dollars.
Past medical theory and practice assigned patients to groups, “averages”, placing humanity along the so-called bell-shaped curve. However, none of us are average and those things which make us different are hidden deeply in our genomic code and other so-called ‘omics’ (more later) and how these omics interact with our environment and lived experience. What appear to be obvious similarities are superficial and mask deep differences.
“A pair of random individuals from two different populations is genetically more similar than a pair of individuals randomly selected from any single population.”
There are many definitions, but at its core Precision Medicine looks at patients as individuals rather than an average or even members of specific groups.
Precision medicine has been defined as a novel approach for disease treatment and prevention that considers the genetic information, environment, and lifestyle of each patient to ultimately establish specific strategies based on these factors.
To this end, precision medicine aims to create the most effective treatment plan for each individual patient in the hope of eliminating unnecessary diagnostic testing and therapies [emphasis mine].
It is precise because the treatment’s foundation is based upon the motto, “the right treatment for the right patient given at the right time.” The treatment is focused on a specific patient rather than all patients who share the particular indication.
What is driving the transition to Precision Medicine?
The transition comes at the intersection of three major technological trends which have put treatment strategies in the doctor’s hands unimaginable even a decade ago:
1. Omic medical research
Omics relates to the broad category of biological/molecular information (data) providing a holistic view of a living system. This analysis began with sequencing of the Human Genome and has spread into numerous sub-specialties each offering greater granularity into the complex processes of biological systems. The deeper molecular level information goes beyond medical knowledge from as little as a decade ago. “This omic era has allowed the introduction and development of a medicine much more optimised and personalised, which is considered by many professionals as the medicine of the 21st century.”
2. Massive amounts of confidential health record data
EHRs are real-time, patient-centered, digital records of health information and clinical care generated and maintained by healthcare providers.
Among Organisation for Economic Co-operation and Development countries there is a high level of adoption. The benefits to the health system and doctors are significant:
…structured and unstructured data are important in providing a complete story around patients’ clinical data, offering multidimensional insight into health and disease, provider and patient behaviour, and healthcare outcomes across populations and health systems.
By harnessing the power of electronic health records (EHRs), we are increasingly able to practice precision medicine to improve patient outcomes.
3. Analysis derived from artificial intelligence and other systems
The beating heart of Precision Medicine is data-driven AI.
At the centre of this strategy is a set of computer algorithms that identify patterns in multidimensional datasets that are then used to predict or optimise based on the availability of similar data on individual patients.
The returns of this harnessing AI for medicine can be significant:
“The algorithm could accelerate the approval of powerful treatments for many cancers, improve clinical outcomes, and reduce costs for treating cancer,” said Randall Holcombe, director of the UH Cancer Center.”
The AI based systems offer the following benefits to the medical community: 
Precision Medicine success stories
Although in its infancy, Precision Medicine is beginning to develop success stories across different disease types.
Next-generation sequencing (NGS) has achieved great advances in medicine and clinical practice, as well as in basic research field. NGS-based precision medicine has mainly focused on cancer [1,2], given the prevalence, availability of drugs targeting major oncogenic factors, and impact on human health. Another sector of focus through NGS-based precision medicine is ultra-rare diseases.
The following are rare diseases which have benefited by Precision Medicine:
Postscript – Are there clouds on the horizon?
The consensus is, Precision Medicine is a force for good. Precision Medicine multiplies the tools of doctors and medical professionals many times using advanced technology. However, are there are factors that should cause us to use these advanced tools with care. The following are some of these areas:
Recent examples of innovative targeted and precise therapies based on genetic diagnosis that have had
implications for patients beyond effectiveness. High-cost and high-risk interventions that are available primarily to
those with power, money, and access will likely exacerbate existing health disparities and potentially exacerbate the
burdens of specific diseases or disease risks. As precision health evolves, researchers, clinicians, and policymakers will need to develop strategies for proactively identifying some of these ethical challenges in therapeutic translation as well as policies and guidance to mitigate adverse impacts of successful precision-based therapies.
References and further information
 Also called personalised medicine.
 G.S. Ginsburg and J.J. McCarthy, Trends Biotechnol., 19 (2001), pp. 491-496
 The Precision Medicine Initiative is a long-term research endeavor, involving the National Institutes of Health (NIH) and multiple other research centers, which aims to understand how a person's genetics, environment, and lifestyle can help determine the best approach to prevent or treat disease. https://medlineplus.gov/genetics/understanding/precisionmedicine/initiative/
 Omics are novel, comprehensive approaches for analysis of complete genetic or molecular profiles of humans and other organisms. For example, in contrast to genetics, which focuses on single genes, genomics focuses on all genes (genomes) and their inter-relationships.
 Genetic Similarities Within and Between Human Populations, D. J. Witherspoon, S. Wooding, A. R. Rogers, E. E. Marchani, W. S. Watkins, M. A. Batzer, L. B. Jorde,Genetics. 2007 May; 176(1): 351–359. doi: 10.1534/genetics.106.067355
 The Past, Present, and Future of Precision Medicine, https://www.news-medical.net/life-sciences/The-Past-Present-and-Future-of-Precision-Medicine.aspx.
 We are only providing a high-level view of how these new technologies and practices are driving Precision Medicine.
 Sitapati, Amy & Kim, Hyeoneui & Berkovich, Barbara & Marmor, Rebecca & Singh, Siddharth & El-Kareh, Robert & Clay, Brian & Ohno-Machado, Lucila. (2017). Integrated precision medicine:the role of electronic health records in delivering personalized treatment: Integrated precision medicine. Wiley Interdisciplinary Reviews: Systems Biology and Medicine. 9. e1378. 10.1002/wsbm.1378.
 Rare Revolution (eZine), Summer 2020, pp.67-70
 What Precision Medicine Can Learn from Rare Genetic Disease Research and Translation | Journal of Ethics | American Medical Association (ama-assn.org)
Rare Revolution Editor