Genetic Counseling and the Precision Medicine Initiative

Genetic Counseling and the precision medicine initiative 

Precision Medicine Initiative
Image by National Institutes of Health

Doctors, genetic counselors and other healthcare providers work hard to provide the best care and medical treatment for you as an individual when you are a patient being treated for a particular medical condition. However, for most conditions the starting point for treatment is based on what is best for the “average” patient. Sometimes, adjustments are made because the differences are obvious - we don’t give a 90-pound female gymnast the same dose of anesthesia before surgery as we do a 300-pound male football player. But other times it is more complicated. 

Recently, there has been a big push for precision medicine (also referred to as individualized medicine or personalized medicine). Precision medicine means specific factors unique to you are used to directly guide treatment. Usually, this includes genetic testing, as your genes are one of the things that make you particularly unique.

Precision Medicine Initiative

Precision medicine recently became a new catchphrase after President Obama announced his plans to launch a nationwide research effort, called the Precision Medicine Initiative (PMI), during the 2015 State of the Union address. The PMI will build a group of more than 1 million research volunteers, made up of U.S. citizens, and collect medical records, genetic markers and many other pieces of information about each participant. This will allow us to see what works and what doesn’t in different individuals, which is important in order to tailor prevention and medical treatments.

How is Precision Medicine Currently Used?

Precision medicine today is used quite frequently to, for example, identify the best cancer treatment for an individual. We’ve learned that the genetic characteristics of the tumor can tell doctors a lot about how to treat that specific cancer more effectively. Instead of treating all breast cancers as the same, doctors can now look at the genetics of the tumor to see if a particular therapy is more or less likely to work. As a result, women with breast cancer can be treated with chemotherapy or other medications that are most likely to cure the disease.

Precision medicine is also valuable in prescribing some medications. Differences in our genetic makeup can mean that a medication might be very effective for one person, completely useless for another and actually cause negative side effects in a third.

One example is a medication used to treat and prevent heart attacks and strokes called clopidogrel (brand name Plavix). Studies show that 12 to 60 percent of people will not respond to this medication, leaving them at higher risk for heart attack, stroke and other cardiovascular complications. Before prescribing it, physicians can test to see if their patient is unlikely to respond and can prescribe a more effective treatment instead. The goal is giving the right drug at the right dose for the right patient at the right time, every time.

What Does Precision Medicine Mean to Me?

Precision medicine means specific factors unique to you are used to directly guide treatment. Usually, this includes genetic testing, as your genes are one of the things that make you particularly unique.We are in the early days of integrating precision medicine into all parts of medical care. That means that not all treatments can be tailored to fit your exact medical condition and genetic makeup. However, the research is continuing and the applications of precision medicine are growing daily. 

If you’re interested in learning more about genetic testing options and precision medicine, you can connect with a genetic counselor in your area by using NSGC’s Find a Genetic Counselor tool.

Erica Ramos, MS, CGC, is a personalized medicine expert for the National Society of Genetic Counselors and is a Senior Genetic Counselor at Illumina, Inc. in San Diego.

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