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Genetic testing is a powerful tool in identifying rare disease patients and providing answers to a wide range of symptoms and sometimes multiple misdiagnoses. But the test itself isn’t enough to provide these answers – that’s where a genetic counselor is needed to fill in the gap.
With advancements in genetic testing, understanding the implications of test results is crucial for both medical professionals and patients. But what exactly does a genetic counselor do and how can they help those with or seeking a rare disease diagnosis? To answer these questions, we sat down with one of the licensed genetic counselors we work with at Probably Genetic, Krista Savage.
Based in Salt Lake City, Krista Savage (formerly Qualmann), MS, CGC is a genetic counselor with ten years of clinical experience in genetic counseling across multiple settings. Working in clinical and research settings, Savage specializes in adult neurogenetics and provides pre-test and post-test genetic counseling for patients who exhibit symptoms of conditions such as frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease), mitochondrial diseases, and other genetic syndromes. Krista is an active member of the National Society of Genetic Counselors, the Neurogenetics Special Interest Group, and the Association for Utah Genetic Counselors. Here she answers some of the most commonly asked questions about how she helps patients.
Genetic counselors are not doctors, but they are highly trained healthcare professionals with specialized expertise in genetics. “I’m not a physician, I don’t treat or prescribe,” explained Krista. “But I do specialize in fundamental genetics and all genetic testing technologies; I act as a translator between a doctor and a patient or a patient and a laboratory. I help put genetic testing results into context.”
Genetic counselors typically hold a master’s degree in genetics, which includes both scientific training in genetics and patient care training in counseling. They work closely with physicians, including geneticists and other specialists, to help patients navigate complex genetic information and medical management decisions.
Genetic counselors have an in-depth understanding of the human genome and the many rare conditions that can arise from genetic mutations. Their focus is on communicating this information in a way that patients can understand. They provide education about the potential risks, benefits, and limitations of genetic testing, helping patients make informed decisions about their health.
Genetic testing can provide critical answers for patients with suspected or confirmed rare diseases. However, these results are often complex, and without proper guidance, they can lead to confusion or misunderstanding.
A genetic counselor acts as a liaison between laboratories, patients, and ultimately doctors. While the lab is looking at hundreds and thousands of DNA changes for each patient, they do not always have access to comprehensive phenotypic data, or patient symptom information. Without a professional mining the phenotypic data from patients, those results present an incomplete picture.
“These test results don’t always just spit out a diagnosis,” says Krista. “Sometimes, they highlight a specific genetic variant that could indicate a genetic disease, but those results are only a piece of the puzzle.” It’s crucial that a professional interprets what these genetic variants mean in the context of the patient’s history, symptoms, previous diagnoses, and more.
“As an example, we might see a DNA change – that is to say, a genetic variant or genetic mutation – that we know is causing a genetic disease. We call that a positive result, which can provide a specific genetic diagnosis for the patient. There are also many DNA changes that we know don’t cause health problems. We call these benign variants or negative results, which are not related to a patient’s symptoms. Benign variants are usually not included on a genetic test report. Other times we might see a DNA change that may (or may not) cause a health problem, which we call a variant of uncertain significance. We know that most of these variants of uncertain significance aren’t the true answer for a patient’s symptoms. However, sometimes they might be. Here, a genetic counselor will work with the patient’s other healthcare providers to see if the patient is experiencing any connected symptoms, and if this possible genetic diagnosis is the correct match.” It’s a combination of genetic testing results and the patient health profile and history that leads to a correct diagnosis.
Deliver the genetic test results to patients so they understand the implications. Sometimes, a genetic mutation leads to a rare disease diagnosis. Other times, a genetic mutation leads to an increased risk for a disease, but not all individuals with the mutation will develop that disease. A genetic counselor helps break down these complex findings, explaining the difference between positive results (identification of a pathogenic variant that causes disease), negative results (no pathogenic variants were identified), and variants of uncertain significance.
The process of undergoing genetic testing and receiving results can be emotionally challenging, especially if there is a potential risk for serious health issues. Genetic counselors offer a supportive environment in which patients can discuss their concerns, fears, and hopes. This emotional support is particularly important for patients and families who may be coping with a rare disease diagnosis or for individuals who are trying to decide whether or not to move forward with genetic testing.
One of the key reasons to see a genetic counselor is the potential impact of genetic testing on family members. Many rare diseases are inherited, meaning that other family members may also be at risk. For example, it might impact a patient’s family planning decisions after understanding the risk of passing down certain genetic variants. Or, it may impact a person’s career, financial, or other life decisions after understanding their own risk for disease. A genetic counselor can help identify who in the family might benefit from genetic counseling or genetic testing and what steps they can take to manage their health proactively.
Genetic counselors collaborate with other healthcare professionals to develop personalized medical management plans based on genetic testing results. For instance, some results may suggest preventive measures, lifestyle changes, or specific treatments like gene therapies. In other cases, results might indicate that no immediate action is required but that ongoing monitoring is needed. By helping patients understand their specific risks, a genetic counselor ensures that the care plan is both tailored and effective.
“The same test results can mean very different things for different patients,” explains Krista. “For example, are they currently experiencing symptoms that need treatment or should they be screening for new and perhaps expected symptoms to emerge in the future?”
For rare diseases that don’t have approved treatments currently, genetic counselors are able to provide the latest information on disease research and ongoing clinical trials.
Krista’s specialty is neurology, so she is able to stay current with all ongoing trials around ALS and frontotemporal dementia (FTD). If she has a patient with results that match an ongoing clinical trial, she’s able to offer them enrollment or the opportunity to follow along with the clinical trials and receive updates on their progress.
Genetic counselors are also able to connect patients with patient advocacy groups (PAGs), specialists, and other educational materials.
If you or a loved one is undergoing genetic testing or has been diagnosed with a rare disease, connecting with a genetic counselor is a crucial step. There are several ways to find a qualified genetic counselor:
Some genetic testing companies, like Probably Genetic, offer access to genetic counselors as part of their testing services. If you qualify for no-cost genetic testing through Probably Genetic, you will also receive a free consultation with a genetic counselor to discuss your results and next steps.
Many primary care physicians and specialists can refer you to a genetic counselor. If your doctor suggests genetic testing, they will often recommend seeing a genetic counselor as part of the process. Unfortunately, given patient numbers and workloads, many doctors are unable to keep up with the developments in genetic testing and may not spot the signs in a patient who might need genetic testing.
The National Society of Genetic Counselors (NSGC) has an online directory where you can search for a genetic counselor in your area, or through telehealth services. However, insurance coverage varies significantly by state, insurance provider, and type of genetic counseling service requested.
Many rare disease patient advocacy groups, such as Global Genes or the National Organization for Rare Disorders (NORD), can help you connect with genetic counselors and other healthcare professionals experienced in rare diseases. These organizations often provide resources and support for patients and families navigating genetic testing.
For individuals with rare diseases or those seeking answers to unresolved health issues, genetic counselors are invaluable guides in the complex world of genetic testing. While there are a number of avenues to begin your genetic testing journey, Probably Genetic offers no-cost testing as well as free genetic counseling sessions through a nation-wide network of licensed genetic counselors.
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