The 2010s saw a boom in at-home DNA testing marketed as a simple way to learn about one’s ancestry. An added benefit was that tests could provide some health-related information, such as a …
The 2010s saw a boom in at-home DNA testing marketed as a simple way to learn about one’s ancestry. An added benefit was that tests could provide some health-related information, such as a genetic predisposition to diseases like Alzheimer’s and Parkinson’s. What these tests cannot do is answer the first question commonly asked by those with an elevated risk. What do I do next?
“While tests like 23andMe and Ancestry.com help consumers connect to their familial pasts, they do not offer the level of in-depth information medical genetic testing can provide,” said Fallon Brewer, CGC, genetic counselor at the University of Alabama at Birmingham. “Genetic testing is extremely nuanced and constantly evolving. Without assistance from a qualified professional, people may not be able to fully understand results well enough to make informed decisions regarding their health.”
A developing field
The growing interest in genetic testing over the last decade, paired with medical advances showing the benefits of using genetic testing in patient treatment and care, has led to growth in the genetic counseling profession. With the rapid developments in genomic medicine and testing, the need for qualified genetic counselors who can help patients and physicians properly navigate the complex field has increased.
The Alabama Genetic Counselor Act passed in 2019 established the Alabama Board of Genetic Counseling, which created a licensure program. The program requires all genetic counselors serving patients in Alabama, including by telehealth, to be licensed by September 2021. Two-thirds of genetic counselors in the Department of Genetics at UAB are already licensed, receiving many of the first genetic counseling licenses issued in the state.
“Genetic counseling is growing in size and in medical importance,” Brewer said. “The goal of the licensure is to set a minimum standard and protect the patient population. It sets an expectation that service is of a certain caliber.”
Brewer, who is the lead genetic counselor of Prenatal Genetic Services at UAB, is chair of the Alabama Board of Genetic Counseling. Other board members include UAB’s Alicia Gomes, CGC; Nathaniel Robin, M.D.; Warner Huh, M.D.; Sheri Jenkins, M.D.; and Leon Dure, M.D.
Translating the science
In a cell, messenger RNA, or mRNA, is needed to translate the cell’s genetic code from DNA to proteins, which play critical roles in the structure, function and regulation of the body’s tissues and organs. Without mRNA, proteins would not have the correct information to allow them to help the body function properly. Similarly, genetic counselors are needed to translate medical history, genetic testing options and test results to patients in order for patients to make informed decisions.
Counselors stay up to date with new technology and are able to more accurately identify needed tests, thus limiting unnecessary testing and saving patients time and money. Physicians also lean on a counselor’s in-depth knowledge of a patient’s medical and testing history when developing personalized care plans.
Genetic counselors work with a variety of patients, including:
• Patients with a family history of a genetic anomaly or disorder
• Families of children born with a genetic disorder or with a suspected disorder.
• Patients with a family history of cancer
• Patients with a genetic disorder who are family planning
• Patients who are referred after abnormal testing results, especially during pregnancy
For areas such as UAB’s division of Maternal-Fetal Medicine, genetic counselors are vital to the team. Genetic counselors work in every ultrasound clinic, discussing ultrasound findings with expecting parents and assessing the risks of a genetically linked birth defect. The counselors recommend which, if any, genetic tests are needed and also provide family planning guidance to families with known genetic disorders.
“Much of our work revolves around genetic conditions that may be affecting a fetus and in determining recurrence risk for that condition in future pregnancies,” said Sheri Jenkins, M.D., professor in UAB’s Division of Maternal-Fetal Medicine. “Genetic counselors are experts in genetic issues that affect families. They are very knowledgeable about the genetic tests available to assess for various diseases. We could not function well without them.”
Genetic counselors have also become an invaluable asset in cancer treatment. Multiple cancers have clear hereditary components that have significant implications on prevention and treatment for patients as well as their family. Through counseling and testing, genetic counselors work to identify patients and family members who might be at future risk for developing cancer. Their role has become a “cornerstone for contemporary cancer care,” according to Warner Huh, M.D., chair of UAB’s Department of Obstetrics and Gynecology and senior scientist at the O’Neal Comprehensive Cancer Center.
Training the next generation
UAB has recognized the added value and importance of genetic counseling in the health system and is taking a unique approach to help enhance the field. Instead of having genetic counselors employed by a specific division, all counselors are employed under UAB’s Clinical Genetics Services. Counselors then work in at least two of five main areas: cancer, prenatal, adult and pediatric, research, and with non-genetic physicians in areas such as neurology. The structure allows counselors to have more than one specialty and encourages more collaboration and learning among colleagues.
“Few institutions follow a centralized genetic counselor structure as we do at UAB,” said Nathaniel Robin, M.D., director of UAB’s Clinical Genetics. “Our counselors learn exponentially more in their first few years with their overlapping specialties. This has created a well-rounded and strong group of counselors who have a positive impact on the health system every day.”
The dedication to the enhancement of the genetic counseling field extends past the clinical setting. UAB’s School of Health Professions offers a Master of Science degree in genetic counseling. The competitive program earned its accreditation from the Accreditation Council for Genetic Counseling in 2013 and was re-accredited in 2019. The 21-month program admits eight students a year.
The program combines classroom and clinical experiences in pediatric, prenatal, cancer and other specialty settings. The versatile degree teaches students how to work with patients and families who are learning about and coping with the risk of genetic disease they may have for themselves and their relatives.
“The UAB Clinical Genetics Service is an important clinical training partner for the UAB Genetic Counseling Program,” said R. Lynn Holt, CGC, program director of the Genetic Counseling program. “Many of the program’s graduates join the UAB clinical service following graduation to support the growth of genetics services in Alabama.”