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DNA explained: The role of the genetic counselor

By 2003, The Human Genome Project made history by successfully sequencing the entire human genome and creating the roadmap for large-scale genetic testing. Today, genetic testing uses that roadmap as a comparison to the sequence of our DNA. Many common conditions have an underlying genetic finding, and as a result, genetic testing options have exploded in recent years.

Because there are genetic tests for so many different aspects of health and wellbeing (including genetic testing for your pets!),  people are often left wondering what genetic test is right for them. If you’ve waded into the direct-to-consumer testing world, you may now have results that can be confusing or contradictory. Who do you go to for answers, help and guidance in navigating this ever-expanding and increasingly complex world?

“Genetic tests are rarely black and white, and the same result could matter differently to you depending on your age, your family, even your point in life and whether you personally would make decisions based on what the test is telling you,” says Brianne Kirkpatrick, a genetic counselor and founder and president of WatershedDNA.

General healthcare providers and even specialists may be a good first step. However, some providers may lack specialized training in genetics. Fortunately, genetic counselors are trained specifically in the areas of genetics, genetic testing, and counseling.





Who are genetic counselors?

“Genetic counselors are healthcare providers who use their advanced training in medical genetics and counseling to help patients and their families evaluate how their genetic makeup might impact their health,” says Erica Ramos, vice president of population genomics at Genome Medical and a former president of the National Society of Genetic Counselors. Erica Ramos also serves on the scientific advisory of doc.ai.

While training is broadly focused on the areas of genetics and counseling, many genetic counselors have specialized education and training focusing on areas like cardiology, pediatrics, and oncology. Ramos explains that genetic counselors are experts at “integrating information about your genetics, family history, personal history, and even your environment to assist patients and their healthcare team to make decisions.”

What do genetic counselors discuss?

In general, the role of the genetic counselor is to provide risk assessment and education about the potential genetic conditions in you and your family.

“Genetic counseling sessions are as unique as the people in the room or on the video chat,” says Kirkpatrick. “Your session will focus on uncovering what’s important to you and having a conversation around that. If genetic testing could be helpful, the genetic counselor will cover the process of genetic testing, the limitations and how testing might help you meet your goals.”

During the session you’ll have plenty of opportunities to ask questions about the things that matter most to you. While the questions asked during sessions vary depending on the reason for the visit, some common questions include:

  • Is there a genetic cause for my personal/family history?
  • Are my kids/parents/siblings also at risk?
  • Should I have (or do I need) genetic testing?
  • How accurate is genetic testing?
  • What can I do with the results of testing to improve my health?
  • What information should I share with my family?


Two other questions Kirkpatrick welcomes and encourages all patients to ask are:

      •    Based on what we’ve discussed so far, what are the next steps for me?

      •    Is there something I haven’t thought about that I should consider before making a

            decision?


How can I see a genetic counselor?

Many genetic counselors are available with self-referrals, meaning your primary care provider or another physician doesn’t have to formally make a referral. Ramos says that many genetic counselors can also meet with you via telephone or video. In addition, many health insurance plans pay for counseling. Be sure to check with yours before making an appointment with a genetic counselor.

The easiest way to find a genetic counselor is to visit findageneticcounselor.org. Just remember, you don’t have to walk through the world of genetic testing alone – genetic counselors can help you understand and take control of your genetic information.

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