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Personalized Medicine: Understanding Your DNA

Understanding personalized medicine and pharmacogenomics can take a little more time to understand and may leave us with additional questions. Henry “Mark” Dunnenberger, PharmD, Senior Clinical Specialist Pharmacogenomics, Mark R. Neaman Center for Personalized Medicine, answers questions about pharmacogenomics and Peter Hulick, MD, Medical Director of the Neaman Center for Personalized Medicine at NorthShore, answers questions about personalized medicine.

Understanding Personalized Medicine

Can diseases caused by environmental factors (i.e. depression, lung cancer) develop if one is a carrier of the specific gene?

The risk of developing a particular disease is related to many factors, both environmental and genetic. Risk is like a giant jigsaw puzzle with many pieces. Sometimes the bigger pieces are genetic, sometimes environmental, but it is the combination of all the elements that define one’s risk. Unfortunately, we do not have insight into every single piece. But a large factor like a BRCA mutation for breast/ovarian cancer risk or smoking for tobacco is important to identify. However, not everyone who smokes gets lung cancer just like not everyone who has a BRCA mutation gets ovarian cancer.

Why do some people test negatively for a genetic connection to cancer, yet get cancer? Or their family members get cancer?

Most of the genetic testing for cancer risk focuses on single gene risk factors, like the BRCA genes, which account for the minority of cancer diagnoses. As the field of personalized medicine and clinical genomics evolves incorporation of “polygenic risk scores” will become more routine. This type of risk assessment takes into account many smaller genetic risks factors scattered across our whole-genome that when combined can be important in understanding who is at higher risk and eventually who’s a lower risk for developing cancer compared to average population risk.  It’s also important to remember environmental factors, some of which we can control and others we cannot, that contribute to cancer risk.

If I had an identical twin, would our testing report different findings or the same?

Identical twins would have the same genetic make-up (sequence). This does not mean they will have the same clinical course as there are other factors that play a role in developing cancer or other health conditions.

Understanding Pharmacogenomics

Is the pharmacogenomics testing done at any age? Can children undergo testing? If not children, how young would you recommend?

Yes, pharmacogenomics testing can be done at any age. It is important to remember as we learn more about how your DNA affects your drug response, we will learn about new genes and variants which need to be tested. However, the variants we find will be helpful for your entire life and should not change. Because of this, pharmacogenomics is not a once-in-a-lifetime test but instead a test with lifetime value. Pharmacogenomics is most helpful before you are exposed to a medication because it can help predict how you may respond before you take the medication.

Can NorthShore primary care physicians order testing?

Yes, any ordering clinician at NorthShore can now order MedClueRx, pharmacogenomics testing, for their patients.

If I had an identical twin, would our testing report different findings or the same?

Your testing reports should be the same since we are analyzing the DNA changes you inherited from your mom and dad.