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The transition to precision medicine “one size fits all” to “my medicine”

Sean Gordon is our #RARETech columnist

​​​Sean is a patient with Adult polyglucosan body disease (APBD). APBD is a late-onset, slowly progressive disorder affecting the central and peripheral nervous systems, presenting from the mid 40s onward.

He features in RARE Transition, Winter 20/21 and this is his extended column.

What is Precision Medicine?[1] And why is it precise?

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.[2] 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[3] 

This new paradigm has the potential to save and improve the lives of millions of people worldwide as well as saving billions of dollars.

  • Cancer – The American Cancer Society estimates that 600,000 people will die of cancer causing an economic impact of $80 Billion.  “[M]any cancers are the result of predispositions to certain diseases inherited along ethnic, racial, or familial lines.”[4]
  • Neurological diseases –The Alzheimer’s Association predicts that 16 million individuals will be living with Alzheimer’s by 2050. The financial costs will skyrocket to $1.1 trillion. “Fully unlocking the secrets of how an individual’s genetics impacts his or her likelihood of developing or surviving a particular condition would produce a fundamental revolution in the way providers approach the practice of medicine”.[5]  
  • Diabetes – The idea of precision diabetes medicine is gaining momentum, based upon the promise of reducing the enormous and growing burden of diabetes worldwide. The Harvard School of Public Health estimated that “The global cost was 825 billion dollars per year” with the cost to the US at 105 billion dollars.[6]
  • Rare Diseases – The inherent nature of the over 7,000 diseases rare diseases: its geographic spread, long period until diagnosis (average 5-6 years) and treatment for less than 10% demand a new approach. Moreover, the majority of the 350 million people with rare conditions have genetic causes best suited to genomic and the digital foundation of Precision Medicine.

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’[7] (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.”[8]

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].[9]

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[10]:

  1. Omic medical research
  2. Massive amounts of confidential Electronic Health Records (EHR) mined from patients with similar conditions irrespective of geography
  3. Analysis derived from artificial intelligence and other systems.  

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.”[11]


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.[12]

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.[13]


By harnessing the power of electronic health records (EHRs), we are increasingly able to practice precision medicine to improve patient outcomes.[14]

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.”[16]

The AI based systems offer the following benefits to the medical community: [17]


 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.[18]

The following are rare diseases which have benefited by Precision Medicine:

  • Cystic Fibrosis patients.[19]
  • Nic Volker: Fatal bowel inflammation and colocutaneous fistula a mutation in the X-linked inhibitor of apoptosis protein (XIAP) gene by Whole Genome Screening (WES), which has important roles in inflammatory signaling and immunity.
  • 14-year-old twins: Dopa (3,4-dihydroxyphenylalanine)-responsive dystonia was identified with Next Generation Screening (NGS)
  • 6-year-old girl: NGS was used to identify a rare form of cancer
  • 14-year-old girl: A dramatic case of a girl who had suffered from autoimmune enteropathy since she was 3 months old. A novel de novo mutation in the ligand binding domain of cytotoxic T lymphocyte antigen 4 (CTLA-4) was discovered by WES.

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:

  • Poor predictive values: “Google researchers ended up looking at a range of different AI applications… They found that underspecification [known issue in statistics, where observed effects can have many possible causes] was to blame for poor performance in all of them. The problem lies in the way that machine-learning models are trained and tested, and there’s no easy fix.”[20]
  • Lack of education/training: “As interest in commercial genetic testing rises among consumers, primary care physicians have increasingly had to put clinical context around patients’ test results. However, most providers have not had in-depth training in genomics or genetics in medical school.”[21]
  • Errors in DNA testing: Because databases that genetic testing companies use to interpret DNA tests often contain errors, “we’re starting to see a lot of fumbles,” with physicians telling patients they have disease-causing genetic mutations when they really do not.[22]
  • Security and privacy protection – EHR: As EHRs are critical to Precision Medicine the vulnerability to cybercrime is a major concern. “United States hospitals were targeted by two major cybersecurity attacks this fall: the first taking down Universal Health Services, a chain of hundreds of hospitals, and the second by a group called UNC1878 threatening hundreds of individual health care facilities all around the country. Targeting health care institutions directly marks a new approach for cybercriminals.”[23]
  • Precision Medicine Can Exacerbate Health Disparities and Create Ethical Dilemmas:

          The AMA Journal of Ethics points out:
          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.[24]


Sean features in RARE Transition, Winter 20/21 and this is his extended column. To read his column visit RARE Transition

References and further information

[1] Also called personalised medicine.
[2] G.S. Ginsburg and J.J. McCarthy, Trends Biotechnol., 19 (2001), pp. 491-496
[3] 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.
[5] Ibid
[7] 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.
[8] 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
[9] The Past, Present, and Future of Precision Medicine,
[10] We are only providing a high-level view of how these new technologies and practices are driving Precision Medicine.
[13] Ibid
[14] 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.
[17] Rare Revolution (eZine), Summer 2020, pp.67-70​
[24] What Precision Medicine Can Learn from Rare Genetic Disease Research and Translation | Journal of Ethics | American Medical Association (

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