What is Precision Medicine? A Simple Introduction for Confused Doctors

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Genes are having a moment. They are, according to Gartner healthcare analyst Richard Gibson, “The biggest thing to hit healthcare maybe ever, definitely since the advent of antibiotics in 1950.”

“It changes everything,” Gibson said. “From how you make a diagnosis, to how you assess and respond to risk. It’ll explain so much of what we don’t understand about variability.”

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For example, some people take ibuprofen and it does nothing for them. Others love it. What gives? Well, your genes, for one thing. Genomics has the potential to answer so many bedeviling health questions, such as why some people can follow a strict diet perfectly and never lose weight, while others lose weight just barely trying.

What is Genomics?


Your genome is you. It’s your complete set of DNA, the chemical instructions for building a you. DNA sequencing means figuring out which exact order the base pairs in a segment of DNA are in. Every individual has approximately three billion characteristics in their genomic code, like words in a book. According to CNBC, 99.9% of people’s genes are identical.

There’s only three million differences that are specific to each person, just one thousandth of the whole. Genomic sequencing companies take your DNA from a cheek swab or other sample and analyze it to learn from your unique .1%.

The first human genomic sequence in 2001 took the Human Genome Organisation (HUGO) and Celera Genomics 13 years and cost $13 billion.

Luckily, the cost has come down. Quite a bit, in fact. Today, a ton of different companies can sequence your genome for around $1,000. Illumina is one of those companies. Jay Flatley is Illumina’s chief executive. Flatley predicts further declines for the price of genome sequencing. “Clearly getting to a $500 genome is technologically possible,” Flatley told CNBC. “And we think certainly there’s potential far beyond that.”


One Huffington Post writer’s DNA analysis revealed how well he metabolizes various drugs, his higher-than-average risk for Alzheimer’s disease, and the fact that he can easily digest cheese (which I would have thought he could have figured out without a $2,900 test).

Sequencing your genes can also reveal diseases, such as cystic fibrosis, that you and your partner are likely to pass on to your children despite not having any symptoms. If you and your partner are both carriers, you can use In Vitro Fertilisation (IVF) to screen embryos for these genetic disorders before implantation.

But the potential usefulness for individualized analysis of each person’s genome is far greater. The National Human Genome Research Institute describes a future of far more accurate preventive medicine.

Imagine being able to predict how well a treatment or intervention will work with way more accuracy than we can today. Imagine drugs and procedures much more effective than what’s available now. That’s the promise of genomics and precision medicine.

In this series I want to go over the promise of  genomics and precision medicine along with what’s required to bring these innovations to widespread use.

What is precision medicine?

After we sequence the genome, getting the insights from it requires analysis. Like I said earlier, only .1% of your DNA is unique to you. That .1% are called variants, or biomarkers. A biomarker is a molecule we can label and categorize and count.

We know that genes influence how well treatments work. The same medicine that cures one person makes the other sicker. What we don’t know is which is which until we try the medicine. Genomic data can reveal that information prior to treatment, so treatments can be tailored to the individual.

Tailored medicine is hardly brand-new. We’ve been individually tailoring patient care based on genetic traits for a long time. Physicians have long-used family history to screen for risk assessment. For example, we have run genetic tests for von Hippel-Lindau disease or breast cancer for a while now.

But genome sequencing will vastly improve the breadth and depth of our capabilities to tailor medicine. For example, lifestyle choices also impact people differently based on their genes. On their FAQ page, the National Human Genome Research Institute predicts that “There will be a personalized aspect to what we do to keep ourselves healthy.” Understanding the genetic origins of diseases will unveil drugs and interventions far more effective and precise than we currently use.

Genome sequencing is already killing the game (and saving lives).

Exome sequencing is cheaper than sequencing the entire genome. Using it enabled researchers to discover the gene for Miller syndrome (a rare Mendelian disorder of unknown cause). Another team found the gene mutations associated with Kabuki syndrome.


Researchers using whole-exome sequencing discovered that a patient referred with a suspected diagnosis of Bartter syndrome actually had congenital chloride diarrhea.

Eventually, the goal is to see every health and medical decision, device, product, and recommendation tailored to each patient based on their individual cells, molecules, and genes.

In the meantime, researchers and physicians are working toward grouping patients into subpopulations according to their susceptibility to particular diseases, prognoses, and response to a specific treatments.

What’s next

This month the National Institutes of Health authorized $55 million in funding for the Precision Medicine Initiative. Long-term, the initiative aims to build a comprehensive genomic knowledge base which organizes and analyzes genomic data from one million Americans. This month the University of Michigan School of Public Health joined the national network of scientists in order to collaborate with Vanderbilt University’s Data and Research Support Center. U-M’s Genomics Initiative already has collected genomic data from nearly 35,000 patients who have consented to share it for research.


Search interest in “precision medicine” blew up after President Obama announced the Precision Medicine Initiative in his 2015 State of the Union address.

Since then, it’s become a bit of a buzzword, with tech vendors using “precision medicine” on their websites and in their marketing materials. People use it interchangeably with “personalized medicine” and “genomics medicine” but it is bigger than both, as it incorporates genomic, molecular, cellular, lifestyle, and medical data.

However, precision Medicine is literally the furthest left technology on Gartner’s 2016 Hype Cycle for Consumer Engagement With Healthcare and Wellness. Meaning it has a ton of potential but a long way to go before most people begin to really see and implement the benefits.


Stay tuned for more information about genomics and precision medicine. In the meantime, are you taking steps to get ready for the precision medicine revolution? Why or why not? Let me know in the comments.

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About the Author


Cathy Reisenwitz

Cathy Reisenwitz is a former Capterra analyst.


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