Tag Archives: personalized medicine

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How revolutionary is personalized medicine?

The federal Precision Medicine Initiative announced on January 2015 has enjoyed broad support, but there are detractors. Soon after the announcement,  Dr. Michael Joyner wrote an op-ed in the New York Times with the view that the Initiative will not deliver as promised. his opinion prompted a large number of replies both pro and con. In July 2015, Dr. Timothy Caulfield wrote in a British Medical Journal blog downplaying the notion that personalized medicine should be considered a “revolution” and would likely follow the same path as other so-called genetic revolutions. In May 2015, Larry Husten, a medical journalist writing in Forbes,  takes issue with the rosy predictions of Victor Dzau, president of the institute of Medicine on the future of personalized medicine.

What are we to make of these opinions? In essence, do not look to personalized medicine as a panacea for human illnesses. The initial focus of the Initiative will be on cancer, an area in which personalized treatments are already well underway. Additionally, personalized medicine is showing promise in treating minor diseases  affecting  a small number of people when the disease is due to a single genetic mutation. The personalized medicine approach may not work as well in treating major diseases such as diabetes or heart disease. These diseases are more likely to be manifested due to environmental or lifestyle factors rather than defective genes,

Reservations aside, the Precision Medicine Initiative is a very welcome development. It will identify and test new targets for diagnosis and treatment of diseases, and will advance medical research.  The funds made available for the Initiative represents a small fraction of the National Institutes of Health budget, so will not handicap other vital projects of the NIH.


  1. Caulfield, Timothy. “Genetics and Personalized Medicine: Where’s the Revolution?” BMJ Blogs, July 23, 2015. Caulfield-BMJ Blogs
  2. Husten, Larry. “Precision Medicine Approaches Peak Hype.” Forbes, May 6, 2015. Forbes
  3. Joyner, Michael. “Moonshot Medicine Will Let Us Down.” New York Times, Jan. 29, 2015. Joyner-NY Times

PMI Image. Credit: The White House

Personalized Medicine patient

Precision Medicine Initiative

Recognizing the growing importance and promise of personalized medicine, the federal government launched the Precision Medicine Initiative with President Obama’s State of the Union Address in 2015.

A key component of the Precision Medicine Initiative (PMI) is the creation of a national research participant group, called a cohort, of 1 million or more Americans to expand our knowledge and practice of precision medicine. What is the cohort program?

Cohorts are used in a type of medical research known as an observational study. A prospective cohort study uses defined groups of people who are followed over time to see who experiences an outcome of interest. Cohort studies are useful when experimental studies are not feasible. Cohort studies are notable in requiring large numbers of people that are studied over long periods of time, particularly for less common diseases. For this reason, the PMI Working Group determined that in order to efficiently carry out the goals of the PMI, a very large cohort will be assembled over a period of 3-4 years. Researchers will be able to identify subsets of the cohort suitable for their specialized studies without having to resort to developing their own cohorts.

The participants will volunteer to provide medical history and biological specimens that will be available to researchers studying a variety of diseases and conditions.  The cohort will represent a broad cross section of the U.S. population from diverse social, racial/ethnic, and ancestral populations living in a variety of geographies, social environments, and economic circumstances, and from all age groups and health statuses.

The information obtained from the cohort will include individual variabilities in genetic, environmental, and lifestyle factors.  This knowledge will be used to develop quantitative estimates of risk for a range of diseases by combining environmental exposures, genetic factors, and gene-environment interactions; identification of causes of individual variation in efficacy and safety of commonly used therapeutics; discovery of biomarkers that identify people with increased or decreased risk of developing common diseases, as well as other medical advances.


  1.  The Precision Medicine Initiative Cohort Program

National Institutes of Health

PMI Cohort Program

2. The Precision Medicine Initiative Cohort Program –

Building a Research Foundation for 21st Century Medicine

Precision Medicine Initiative (PMI) Working Group Report to the Advisory Committee to the Director, NIH, September 17, 2015

PMI Working Group Report

Genome research

The Genome and Personalized Medicine

Personalized medicine is “an emerging practice of medicine that uses an individual’s genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease,” according to  the National Human Genome Research Institute.

Determining an individual’s genetic profile is based on analysis of his or her genome. What is the genome?

A genome is a person’s complete set of DNA ( deoxyribonucleic acid), including all of its genes. Each genome contains all of the information needed to build and maintain that person. DNA is present in 23 pairs of chromosomes found in the nucleus of cells. DNA consists of units called nucleotides, with the distinguishing feature being four chemical bases. Genes are small segments of DNA, which act as instructions (codes) to make protein molecules.  A large portion of genomic DNA does not code for protein, but may have functions related to regulating the activities of genes. Excellent discussions on the genome, DNA, and genes are available on the internet.

The Human Genome Project completed in 2003 was a landmark study to determine the sequence of all the DNA subunits of the human genome. The long-term aim of the project was to advance the diagnosis and treatment of diseases. Now, over two decades after the project’s completion these benefits are beginning  to be realized, and serve as the basis of personalized medicine.

Coming up next time– progress on the Precision Medicine Initiative.

Further Reading

  1. A Brief Guide to Genomics. National Human Genome Research Institute.


2. Genomics. The Broad Institute.


3. DNA Genes and Chromosomes. virtual Genetics Education Centre, University of Leicester.


4. About the Human Genome Project. Human Genome Project Information Archive 1990-2003.


5. Human Genome Project produces many benefits. National Human Genome Research Institute.



Introduction to Personalized Medicine

Personalized medicine, also known as precision medicine, is much in the news today. What is it, and why is it becoming increasingly important?

Personalized medicine is a new approach to healthcare. Until recently, patient care has been based on the general population, or a “one drug fits all” approach. Treating for the average person, however, can result in a complete cure or no response at all. Also, side effects to the treatment can vary from nonexistent to very severe.

Personalized medicine is now gaining prominence in healthcare as a result of advances in medical technologies. Leading the field is genome analysis, but also includes computational biology, medical imaging, and regenerative medicine. These technologies identify the unique characteristics of each individual, allowing for a more rational and effective means of diagnosis and treatment. Using the full potential of these technologies leads to a true application of personalized medicine.

In future postings of this blog, I will discuss various aspects of personalized medicine, starting with the human genome. Other topics will include the federal Precision Medicine Initiative, diseases currently treated by personalized medicine, drugs in the pipeline, and challenges faced in the implementation of personalized medicine.

Genetic engineering-Alexander Raths/Shutterstock.com