Ask The Expert: An Interview with a Pathway Genomics Counselor

Leslie

SAN DIEGO, Apr 17, 2015  — Leslie Ordal, M.Sc., a field genetic counselor at Pathway Genomics, answers some frequently asked questions:

Are all genetic changes harmful?

No. In fact, everyone has genetic changes – it’s why we’re all different. Some genetic changes, called pathogenic variants, can be harmful to an individual, and in some cases, to their children if passed down.

Many other genetic changes; however, are quite common and have no known effect on health – we call these benign variants, and they’re just part of natural human variation. Some genetic changes can even be beneficial, such as those associated with reduced risk for certain diseases like Alzheimer disease.

Can I fix a pathogenic variant in my genes?

This is a very common question, and right now the answer is no. Your genes are in almost every cell in your body, and there’s just no way to go in and fix an alteration in the genetic code in each and every cell. However, research is ongoing and may make this a possibility in the future.

Can a gene be turned on or off?

Genes are actually constantly turned on, or expressed, and turned off, or repressed, depending on where they are in the body and what the body currently needs. We have about 20,000 genes and they are the same in every cell. In any given cell at a given time, most of those genes are turned off. Turning genes on and off at specific times allows the body to grow and develop properly – making cells in the liver different from cells in the heart, for example.

We know that genes can be expressed or repressed due to signals from other cells or even the environment, but we don’t know much about the specific interactions quite yet. The new field of epigenetics is researching this very complex phenomenon.

What is the difference between genetics and genomics?

The word genetics has been around for a lot longer and usually refers to the study of individual genes and their role in disease or inheritance. Genomics is a newer term that refers to an individual’s entire genetic make-up, or genome to use the scientific term. Genomics looks at the genetic sequence of genes, and their structure and function as well as the interactions between genes.

Can genetic testing tell me if I’m vitamin-deficient?

Certain genes affect how efficiently the body metabolizes nutrients, including vitamins. A specific change in the FUT2 gene, for example, is associated with the metabolism of vitamin B12, causing lower levels in some individuals. Some people who have this change, however, have normal levels of vitamin B12 – they may already be getting a lot of B12 in their diet, for example.

The change in the gene just tells us about the predisposition to better or worse metabolism, not the actual levels of the vitamin itself. Depending on the individual and their current health status, finding that someone has this change in FUT2 may be a starting point for their doctor to check their actual B12 levels through a blood test.

What kind of support does Pathway Genomics offer to patients and their health care providers?

At Pathway, we understand that genetics can be a complex topic and that choosing the right genetic test isn’t always easy. Our genetic counselors are on hand to answer any questions you might have about ordering tests or interpreting results. Our genetic counselors also review the requisitions for our cancer tests, to assist the provider in ensuring the most appropriate test is being ordered.

In addition, we can talk to providers about test results – we will walk you through the report and options for the patient. Patients themselves are also welcome to call and make an appointment to speak to a genetic counselor if they have questions. All of this is provided at no additional charge.

To learn more about what Pathway Genomics can do for your patients and your practice, visit us at www.pathway.com. Have a question for our genetic counselors? Send an email to counselors@pathway.com. To order a test kit, please go to www.pathway.com/order-kits.

Sincerely,

The Pathway Team
4755 Nexus Center Drive
San Diego, CA 92121
(877) 505-7374