An essential introduction to how genetics and “personalized medicine” will change healthcare

Personalized medicine will change the way we think about our health and treat diseases. Here is a short guide to what genetics and personalized medicine is all about.

Personalized or precision medicine?

‘There is a debate about whether the best term for describing the current trend in medicine should be “personalized medicine” or “precision medicine”.

“Precision medicine” highlights the fact, that we are able to target treatments to narrower patient groups based on genetic, environmental or lifestyle information. “Personalized medicine” takes it a step further and targets treatments, therapies and drugs specific to the individual, unique patient.

From one point of view, we have always had personalized medicine. A primary role of the physician is to target the patient’s treatment to the individual as much as possible. However, the medications and treatment options available to the physician have in most cases only been customizable to a certain extend and hence not really personalized to the individual patient.

From this point of view, we are at the point where we are pursuing precision medicine, but the goal still needs to be truly personalized medicine.

Additional information: Precision or personalized medicine?

Why personalized medicine now?

The reason personalized medicine is taking off now is due to a number of new health technology innovations being combined.

  • Gene sequencing has become cheaper and we are slowly starting to get better at interpreting the data
  • We are getting more data about patients’ phenotypes due to widespread use of Electronic Health Record and increasingly behavioral data outside the healthcare setting (quantified self, health kit, wearable sensors…)
  • The ability to compute and correlate data keeps increasing and new algorithms are being developed to better detect patterns in health data using advanced software and Artificial Intelligence (IBM Watson Health Cloud, Google DeepMind Health,Enlitic)

How can we use genetic information?

Already today genetic information can and is being used to personalized treatment.

  1. Check for diseases
    Today, gene testing is used to test for a number of rare diseases where the genetic mutation causing the disease has been identified. presents a list of diseases currently linked to genetic disorders.However, often tests do not provide yes or no answers, but provides information about increased risk and the tests need to be linked with other information to provide clearer answers.
  2. Provide drugs with better results and less side effects
    Many drugs have different profiles and the same drug can be highly effective on one patient and have no effect or severe side effect on other patients.One reason is that the patient’s ability to metabolize drugs differs. Hence, gene testing a person before administering a drug can help guide the physician in selecting the right dose or select a drug that is activated using a different pathway and thereby reducing adverse drug reactions.

    The field is called Pharmaco-genomics and while being really promising, also still lacks research and good methods for embedding the knowledge into everyday medical practice.

  3. Target therapy of treating cancer
    Cancer is a genetic disorder where the gene has mutated. The idea behind personalized cancer treatment is to analyze the cancer tumor, to get information about what kind of mutations are characteristic for a particular patient. This information can then be used, to select a therapy designed to deal with cancer types with this characteristic.Additional information: What is personalized cancer medicine
    Additional information: Understanding target therapy
  4. Develop new drugs
    Finally, knowledge about genomics can help in the development of new drugs. By linking the genetic information to the proteins they produce, researchers can target drugs that affect this protein. Genetic information can also help drug developers in choosing a target population for clinical trials. While supporting drug discovery might not directly affect the patients today, it hopefully can benefit future patients.Additional information: Case studies in Personalized Medicine – Vanderbilt at Coursera (really good course about the subject)

What kind of interventions are coming based on genetics?

Knowing your genetic profile might tell you, that you have a genetic disease or defect, but researchers are moving the boundaries by actually looking for how to repair or circumvent the genetic disorder. Here are three interesting approaches for actually modifying your genetic information or circumventing the problems.

  1. CRISPR is an immensely powerful and somewhat scary technique for actually modifying the genome of living cells. Hence, it promises to be able to replace defect genes with new ones. Think of it as a “search and replace” for DNA’s. It is a tool that promises a possible cure for people living with severe genetic disorder, but also brings a lot of ethical questions about when you should modify the human genome. It is still not tested in humans and a number of issues still need to be solved.For more information check out one of my other blog posts about the CRISPR technique 
  2. Messenger RNA (mRNA) therapy is a way of modifying the messenger. The mRNA is a vital link between your DNA and the protein that is created based on your genetic information. The DNA is transcribed in the messenger RNA, and is then send to the ribosome that creates a protein, based on this recipe.With mRNA therapy the patient is administered a drug containing the mRNA recipes. The ribosome will then use this “artificial recipe” to create the protein described in the drug. The patient’s cell can then actually start creating proteins that are not originating from the patient’s DNA. The mechanism can be used to create proteins that the patient is not creating due to a genetic disorder, or to have the cell actually creating new drugs themselves to combat diseases.

    Curevac and Moderna are two new bio-tech companies that currently focus on mRNA therapies. Moderna has raised more than $950 millions in funding the last 3-4 years to spend on work with this therapy.

    Additional information: Ultimate Review: How Could mRNA Overtake all other Biologicals in Medicine?

  3. Transplant of the mitochondrial is a technique to ensure that a mother’s genetic defect in the mitochondrial, is not passed on to her children. The technique basically takes an egg from a healthy woman, removes the nucleus and inserts the nucleus of the woman with the defect mitochondrial. When the egg is fertilized the fetus has the DNA from three different parents. It is however worth noticing that the DNA in the mitochondrial does not affect phenotypes such as behavior or look. The technique has been used to create 30-50 health babies before being stopped in 2002. However, recently debates in the UK and US might result in the treatment being re-introduced.Additional information: The girl with three parents

Closing remarks

While this short guide only briefly touches some of the advances in personalized medicine, it should point out why everybody interested in healthcare should follow this field closely.

Follow me on LinkedIn or Twitter (thomasrdk) for updated information about trends in healthcare.

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