Genetic counselors work with families to answer the important questions: Is this test important? Will insurance cover this test? What does this result mean? Is there a treatment? What happens next?

GENETIC COUNSELORS

GENETIC COUNSELORS YOUR PARTNERS IN NAVIGATING THE EXCITING (AND SOMETIMES SCARY) WORLD OF GENETICS

BY DAWN LANEY, MS, CGC, CCRC

When Angie and her husband learned that they were pregnant with their first child, they were over the moon with excitement. They came down to earth with a bump, though, after talking with their doctor about her age and family history, which made them think about the baby's increased risk for some genetic conditions. Fortunately, they were quickly referred to a certified genetic counselor who helped guide them through the risks and genetic testing options for their pregnancy.

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"It was all kinds of weird and uncertain – so many different genetic issues in our families, and I was 'advanced maternal age'. Did we really need to do a test that might endanger the baby?" Angie recalls. "Talking to our genetic counselor really helped us figure it all out. She was great – empathy combined with tons of knowledge. Exactly what we needed." After the meeting with their genetic counselor, the couple felt comfortable making testing plans that felt right to them and that allowed them to focus back on the exhilarating adventure of having their first baby. Like Angie's experience, the news that something is "different" about a child's growth, development, or interaction with the world can be life-changing. The concern may arrive suddenly, delivered by a doctor, or gradually, recognized by a parent over time as an infant or child ages. Families find themselves juggling countless doctors' appointments while trying to understand complex medical information. If a genetic evaluation and testing is a part of this journey, a board-certified genetic counselor can make huge difference in the experience.

Genetic counselors are healthcare professionals who are specially trained in medical genetics and counseling in order to serve as translators, advocates, health educators, and, sometimes therapists to help patients and families navigate their emotional genetic journey. Genetic counselors work with families to answer the important questions: Is this test important? Will insurance cover this test? What does this result mean? Is there a treatment? What happens next? Genetic counselors also explain the implications of the testing to the non-geneticist doctors working with the patients so that everyone is on the same page moving forward with a patient's care plan.

Some of the important topics genetic counselors may cover in a genetic counseling session include:

The benefits of working with a genetic counselor are clear to board-certified genetic counselor Charlotte Peinhardt, who has learned that "In order for many patients and families to become empowered medical advocates, it can be very important to work with a genetic counselor who helps them navigate the genetic evaluation process, but also addresses the connected emotional and psychological impact of being on this journey." Her belief is supported by several studies including that of researcher and certified genetic counselor Robert Resta, who found "genetic counseling tends to improve information recall, improve psychological well-being, and is generally well-regarded by patients."

Genetic counselors can join a patient's medical team at any stage of their health journey. Many patients are referred to see a genetic counselor for genetic testing that may provide important information related to medical care. This may be when there are signs of a genetic condition in a patient, or an individual has a family history of a genetic condition or predisposition. Other times, a family or patient may seek help understanding genetic testing after completing a direct-to-consumer testing option like 23andMe or Helix. Still other patients will self-refer for genetic counseling to learn if there is any chance a series of health issues could be genetic. Depending on the reason for the referral, genetic counselors may be practicing as part of a medical care team such as medical genetics, cardiology, oncology, neurology, or high-risk obstetrician/gynecologists (OB/Gyns) or may also work independently in a private practice.

Genetic counselors see both children and adults. In adults, sometimes a genetic answer is suggested only after long years of trying to figure out why complicated health problems are happening. For example, Dave, who is living with the genetic condition cutis laxa, notes "There were clues that I had a genetic condition from the time I was born, but it took 60 years, a lot of tests, many doctors, an exome, a reanalysis of the exome, and the personalized attention of a dedicated genetic counselor to finally find the answer for why my sister and I have our health problems."

Depending on the goal of the genetic counseling session and the role of that particular genetic counselor, genetic counseling may occur over one or two visits related to a specific topic. This is often the case for counseling about increased risks found during pregnancy or cancer predisposition testing. For other patients and referrals, the genetic counselor may be part of a long-term care coordinator team with annual visits, participation in research, and coordination of care. An example of genetic counselors in this role are those who are part of a center of excellence for a specific condition. In this role, the genetic counselor works with the patient and family for many years. Kim, a patient living with a life-impacting genetic condition called Fabry disease, has been seen at a center of excellence that includes genetic counselors and sums up her patient-genetic counselor relationship in this way: "Over 20 years I have had two genetic counselors, both knowledgeable, understanding, and empathetic. They have shown me true compassion and I am happy to say they were always my advocate. They have and will continue be in my life through all of its ups and downs."

Not all genetic counselors work with patients; genetic counselors can work within genetic testing laboratories and pharmaceutical companies. These genetic counselors focus on education, patient advocacy, and interpretation of genetic results for patients and healthcare providers. They can be very helpful in making sure that healthcare providers and pharmaceutical team think about how best to convey information about genetics and testing to patients and families.

With the rapid explosion of genetic knowledge and innovations in genetic testing, the demand for genetic counselors is growing daily. To meet this demand, genetic counselor career options and roles have broadened. With their flexible degree and training, genetic counselors can help patients and families navigate and understand the complicated world of genetics in different ways. 

Telemedicine is one important innovation in genetic counseling that has expanded in recent years to meet the demands. The goal of telemedicine is to provide real time, interactive appointments between patients and genetic counselors who are in two different locations via phone, online, or video application. As Erynn Gordon, MS, LCGC, a genetic counselor and vice president of clinical operations at the genetic telemedicine company Genome Medical, eloquently explains, "Genetic counseling can help identify familial risks, or patterns of symptoms suggesting a genetic diagnosis in an individual or a family that may be missed by healthcare providers not trained in medical genetics. Unfortunately, most genetic counselors are located in major academic medical centers and large hospitals in urban or in some cases suburban areas. This means that access to genetics can be limited by distance, but also by the time needed to travel to these centers, typically during normal business hours (time off work, time away from family responsibilities). Telemedicine is a more flexible option (often with evening and weekend appointments) which increases access to genetic services by removing barriers."

Telemedicine genetic counseling options FLEXIBLE DEGREE & TRAINING, GENETIC COUNSELORS CAN HELP PATIENTS & FAMILIES NAVIGATE & UNDERSTAND THE COMPLICATED WORLD OF GENETICS IN DIFFERENT WAYS. have extended the reach of the approximately 5,000 board certified genetic counselors in the United States to help patients and families beyond the standard in-person appointment. Access to genetic counselors via telemedicine can occur through academic medical centers and programs such as Oregon Health and Science University ( ohsu.edu/telemedicine/tele- genetics-consultations) and Emory University's JScreen carrier screening program, but also through private telemedicine companies such as GeneMatters, Genome Medical, InformedDNA, Metis Genetics, Clear Genetics , Watershed DNA, and others that provide a variety of "live" genetic counseling sessions through easily accessible telehealth platforms. In addition, genetic counseling after genetic testing is often provided free of charge by laboratories such as PerkinElmer Genomics and Invitae.

Further expanding access to genetic counselors' knowledge beyond in-person and telemedicine appointments, there are now online consumer-focused genetics resources that can help provide accurate information about genetic conditions and resources to patients and families. These patient-friendly sites are not substitutes for genetic counseling, but many are written by genetic experts and can answer many common questions about genetic disease. Accurate and helpful websites in this category include: The Genetic and Rare Diseases (GARD) Information Center run by the National Institutes of Health (NIH) ( rarediseases.info.nih.gov), The Genetic Alliance's Disease InfoSearch ( diseasein- fosearch.org), National Organization for Rare Disorders (NORD)'s Rare Disease Database ( rarediseases.org/for-patients-and-families/informa- tion-resources/rare-disease-information/), and ThinkGenetic ( thinkgenetic.com/diseases).

Combining artificial intelligence technology and genetic information, there are also genetic information assistant chatbots that can accurately answer questions about genetics, genetic testing, and insurance from companies such as Metis Genetics and Clear Genetics. In some cases, these resources allow you to submit your specific questions and receive responses. This process does not substitute for genetic counseling but does provide information that helps patients and family members better understand the science behind the genetics.

Increased access to genetic testing and a better understanding of how that information can be useful in medical care means that the need for genetic counselors will continue to grow. Fortunately, genetic counselors are preparing to meet that need and make sure that the testing is translated into useful information for families seeking answers and next steps through a variety of delivery services. Genetic counselors will continue to be active partners for patients and families in navigating the exciting (and sometimes scary) world of genetics.

Interested in talking with a genetic counselor or learning more about genetic counseling? Visit the National Society of Genetic Counselor's consumer website at aboutgeneticcounselors.com

ABOUT THE AUTHOR:

Dawn Laney, MS, CGC, CCRC is a genetic counselor, assistant professor, clinical researcher, program leader of the lysosomal storage disease center, and director of the genetic clinical trials center in the Department of Human Genetics at Emory University in Atlanta, Georgia. She is a co-founder of ThinkGenetic, Inc. which empowers patients who want to know about possible genetic causes for their medical issues or obtain real-life answers to their questions about the impact of living with a genetic disease. She also enjoys writing children's books (most of which are about living with a genetic disorder).