Updated: 2022, Sep 26

13 Questions and Answers with a Certified Genetic Counselor

In this article, we will provide you with some common genetic counselor interview questions and answers.

Melanie Hardy graduated with a Bachelor’s degree in Biology from Michigan State University in 1998. She received a Master’s degree in Biology from Georgia Southern University in 2009 and a Master’s degree in Genetic Counseling from the University of North Carolina at Greensboro in 2011. She was certified by the American Board of Genetic Counseling in 2012. In 2014, she was awarded the New Leader Award, and in 2019, she was awarded the Outstanding Volunteer Leadership Award, both by the National Society of Genetic Counselors, for her involvement in a wide array of professional activities.

13 Questions and Answers with a Certified Genetic Counselor
Genetic Counselor Questions and Answers. Image/Shutterstock

Melanie currently works as the Director of Genetic Counseling Services for JScreen, a national non-profit public health initiative based out of Emory University School of Medicine. With a full medical lab at their disposal, JScreen offers affordable at-home access to cutting-edge genetic testing technology, patient education, and genetic counseling services.

Q1: What is your role as a Genetic Counselor?

Genetic counselors are trained in medical genetics and counseling skills. So we are especially good at helping clients learn about various types of genetic test options and understand how each may (or may not) be beneficial to that person. We can also translate complex genetic information in the test result into meaningful language that is especially relevant to the patient. There can be huge differences between one type of genetic test and another, and a genetic counselor is able to navigate that information to help a patient choose the right test and understand its results.

Q2: What are the different types of genetic tests?

There are lots of types of genetic tests, and each has its purpose. For example, many people utilize direct-to-consumer (DTC) testing options to learn more about their ancestry or certain personal traits. DTC tests are not ordered by a physician because the testing is limited and typically does not have direct implications for a person’s health or the health of their family. The results of DTC testing must be confirmed by a clinical test before they can be used to manage a person’s health.

Testing that is ordered by a healthcare provider is clinical testing or clinical screening – the labs that perform these tests are regulated to ensure high quality testing that has implications for a person’s health or for reproductive planning purposes.

Q3: Can you explain a bit more about the meaning of genetic screenings and cancer screenings?

There are many types of genetic screening: reproductive genetic screening, cancer genetic screening, prenatal screening, newborn screening, to name a handful. Screening tests look for evidence of risk for a genetic condition.

A reproductive genetic screening test would check for conditions that a person carries. Carriers typically have no symptoms of the condition, themselves, but may be at risk of having a child with the condition if their partner is also a carrier of the same condition. These at-risk carrier couples have options to have healthy children if they learn about their risk and take action, especially before pregnancy.

A cancer genetic screening test would look for genetic variations (mutations) that increase the risk that a person might develop certain types of cancer at some point in their lifetime. By identifying these variations in certain cancer genes, we can pinpoint the areas of the body that are most likely to be affected by cancer and discuss options to reduce cancer risk in those areas.

Q4: Is there a difference between getting tested through a doctor or certified Genetic Counselor, as opposed to direct-to-consumer genetic tests?

What some people don’t realize is that DTC testing is limited in its scope. DTC tests only include a handful of conditions, and the testing performed often looks only at a small portion of the genes involved. For example, there are over 1,000 mutations known to cause cystic fibrosis. A DTC test may only look for 2 or 10 or 20 of those mutations.

Also, the results of DTC testing should not be relied upon for clinical management. Unfortunately, there are many very sad stories about individuals whose doctors didn’t confirm their DTC results before performing life-changing surgeries, only to find out that the DTC test result was a false positive.

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*All individuals are unique. Your results can and will vary.

Q5: What are the benefits of getting tested through a doctor over the DTC alternative?

DTC testing is like doing a self-check for signs of skin cancer – there’s some chance that the average person doing a self-check could identify something meaningful, but I would still recommend that they get it checked by a doctor before any action is taken on what they found. There’s also a very good chance the person would identify something that isn’t a risk for skin cancer. Hence, the need for clinical confirmation.

A skin exam by a doctor who has been trained to perform skin exams is much more likely to identify a legitimate skin cancer risk – this is analogous to a clinical screening test. For diagnosis of skin cancer, the dermatologist is going to use a skin biopsy or other tools to confirm that the suspicious spot is actually cancerous – this is analogous to a clinical diagnostic test.

In short, using a healthcare-provider-ordered genetic testing option is superior to DTC testing because the oversight of the lab performing the clinical test helps to ensure that the results are actionable – you can reliably use the results for clinical management and risk assessment.

Q6: Are there any limitations to getting screened through a doctor?

Each doctor who orders genetic testing should have some familiarity with the test options and how to interpret results, but that’s not the sole focus of their practice. So, some doctors are more comfortable with ordering a smaller panel, whereas others like to order larger panels. There are pros and cons to each type of test panel, depending upon the patient’s needs. Unfortunately, if a doctor is only comfortable ordering a small panel, that might not serve the patient’s needs best.

Q7: How does JScreen compare to other DTC and doctor-ordered genetic tests?

At JScreen, we have tried to make genetic screening accessible and affordable for everyone. One of the benefits of DTC testing is its convenience – patient-initiated, testing from home, using saliva instead of blood, etc. We combined those benefits with the power of clinical testing and the help of a genetic counseling team to provide JScreen’s ReproGEN and CancerGEN test options. Our test panels are robust – they are designed to cover a significant number of conditions so that individuals know they’ve had comprehensive testing. They are clinical tests, ordered by a physician, to ensure reliability and actionability. Our genetic counselors are here to ensure each patient understands the testing and the results, and has full support in determining how best to act on the information they learn from testing.

Q8: How does speaking with a Genetic Counselor at JScreen help to make better sense of test results?

Each test result is different, and each patient is different. We help to explain the meaning of the results, but we also listen to the patient’s perspective on what they were hoping to learn, how they want to use the results, and any questions they have. It’s all part of personalizing the test results to the person.

There are often many things about a test result that are not obvious from the results report. For example, some variants in a gene are mild, and may not be associated with the same symptoms as other variants in the same gene. Genetic counselors help provide those nuances in a genetic counseling session. Also, if a patient mentions that they have a personal history of symptoms that are similar to the condition they carry, we will ask further questions to help determine if they might need clinical evaluation to determine personal health risk. So, genetic counselors can help to ensure that a patient gets a lot more from their results than they might on their own.

Q9: What can patients do with the results of their genetic screenings?

Reproductive carrier screening: patients can gather information about the chance that they might have a child affected with a genetic condition on the panel. There are several options that they have available to couples who are at risk to have a child affected with a genetic condition: in-vitro fertilization (IVF) with pre-implantation testing (PGT) to select embryos that are not affected, use of non-carrier egg- or sperm-donors to reduce the reproductive risk, pregnancy-based diagnostic testing to determine if the pregnancy is affected, adoption, and testing after birth and treating the condition if possible.

Cancer screening: patients can learn about their chance of developing cancer in certain areas of the body and plan with their doctor to manage that risk. That might entail additional screening (like mammograms and colonoscopies), at an earlier age or more frequently than the general population; it could entail additional screening (like MRI or endoscopy) that isn’t recommended for the general population, and risk-reducing surgeries.

Q10: How often should one get a genetic screening?

Once testing is completed, we don’t expect a person’s genetic makeup to change. However, advances are happening all the time in genetic testing – testing gets better, panels get bigger, and our understanding of the genes and how they behave improves. So it’s possible that reanalysis of the original results, or retesting on a larger panel, could be beneficial to a person in the future. It’s helpful to check in for updates every couple of years.

Q11: How early should one start getting genetic screening?

The timeline of when a person tests depends upon the information they need, when they need it, and what can be done with the information. For example, reproductive carrier screening is best done before pregnancy, but not every pregnancy is planned. So the few years before reproductive planning might be the most optimal time to think about testing.

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*All individuals are unique. Your results can and will vary.

A person may have a strong cancer family history and have concerns about their risk for cancer, but if we can’t provide screening or management options for several years (screening options often start after age 25), it may be too early for them to think about testing. Talking with a genetic counselor may help a person identify various considerations to determine the best time to test.

Q12: Should everyone get screened? If so, which tests do you recommend?

It’s not necessary for every person to do every genetic test. That being said, if there’s a chance that a person might want or might have children one day, they should consider reproductive carrier screening. If a person wants to know about their genetic risk for developing cancer, they should consider cancer genetic screening. We recommend relatively robust screening panels to ensure broad coverage of genes that could potentially be involved within each, and clinical testing to ensure reliability and actionability.

Q13: What is the most important message you can share about the importance of getting screened?

At JScreen, we always say, knowledge is power! It can be intimidating to learn about your genetic makeup, but at JScreen you’ve got a team of genetic counselors who can help you understand how to use the results in a meaningful way. You can’t act if you don’t know the risk, so consider the benefits of JScreen genetic screening to help you make plans for a healthy future!

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Claire Polansky, Ph.D. M.A.

Claire Polansky is a content writer for Tel Aviv University and a freelance writer deeply committed to health, animal welfare, and soci

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