Certified genetic counselors (CGCs) are among the first faces that patients see once accepted into Vanderbilt’s Undiagnosed Diseases Network (UDN) where hopefully they will gain a diagnosis.
“Genetic counselors are advocates, educators, counselors and scientists, interpreting results of genetic tests and explaining how they might apply to each patient’s journey to a diagnosis,” said Elly Brokamp, MS, CGC.
Each UDN site starts the review the same way, with an initial lab report, but beyond that, each goes about evaluating patients in a different way. At Vanderbilt, those accepted consent to clinical testing and genomic sequencing, as well as an extensive inpatient clinical evaluation, which, in many cases, can take five days. The patient’s DNA is analyzed either by whole exome or whole genome sequencing.
And that’s where Brokamp and Laura Duncan, MS, CGC, come into play.
Genetic counselors can explain how inherited diseases and conditions might affect the patient and their families and how family and medical histories can impact the chance of disease occurrence or recurrence. They also help patients understand if genetic tests may or may not be right for them and what those tests may or may not tell. And most importantly, they help patients make informed choices about their conditions.
There are about 4,000 certified genetic counselors working throughout the United States. They have advanced training in medical genetics (a master’s degree from an accredited program) and have passed a national exam from the American Board of Genetic Counseling.
Vanderbilt plans to debut its master’s degree in genetic counseling this fall after recently receiving accreditation (see related story here). It will be the first in the state and one of only 46 in the U.S. The closest program is in Birmingham.
“Our role is to provide the individual with all the options, so they can make the right decisions,” Duncan said.
“The majority of our patients in the UDN are information seekers, but some patients we see may not want all the information. They may have too much on their plate or they may fear discrimination down the line.”
Vanderbilt’s UDN center is one of 12 sites of a clinical research initiative of the National Institutes of Health (NIH) that has recently been funded for another four years. Through funding from the NIH Common Fund, the 12 sites and four core labs work together to try to solve medical mysteries through team science. The network’s purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.
An undiagnosed disease can be a new disease or a rare presentation of a rare disease. Patients who apply to the UDN sites have not been diagnosed — not because they don’t have something — but because nobody has seen it before.
Not all genetic counselors work directly with patients. Some work in related areas such as laboratories, public health settings and corporate environments. But working with patients is what led Brokamp and Duncan to the profession.
Duncan, whose work load includes both the VUMC’s genetics clinic and laboratory as well as the UDN, said she was drawn to genetic counseling when she Googled careers that might blend biology and working with people. She received her master’s degree in genetic counseling from the University of Cincinnati.
“DNA is so cool – it’s fascinating that something you can’t even see does so much. You can really nerd out on this stuff.”
Brokamp, who is assigned mostly to the UDN, was fascinated with DNA and genetics in high school, was involved in various service and leadership projects and knew that she ultimately wanted to work with people. She earned her master’s degree in genetic counseling from Sarah Lawrence College.
“I loved (learning about DNA) so much in high school and wanted to study it more,” she said. “One of my teachers told me ‘nobody is interested in this but you,’” she said, laughing.
Brokamp said the journey to finding out a diagnosis is fraught with emotional ups and downs, not only for the patients, but for the health care professionals who care for them as well. Some patients can develop “post-diagnosis grief.”
“Having a diagnosis can be hard on families,” Brokamp said. “They can grieve the loss of being undiagnosed.
“Often a diagnosis is assumed to bring a family some relief… the participant may have more clear management and possibly treatment options. But finally having a diagnosis can also bring up more complex emotions,” Brokamp said. “Sometimes families have accepted not having an answer for their own condition or their child’s condition. They can be so used to being on the diagnosis path that it has become comfortable.
“A diagnosis can sometimes be ‘too little, too late,’ especially for the ultra-rare conditions where little information is known,” she said, adding that sometimes patients and their families are expecting a diagnosis in one category and they’re given a totally different diagnosis, so they need time to process. And sometimes a diagnosis includes features that the patient has not experienced yet, but will in the future — for example, when a child is diagnosed with a condition that includes intellectual disability in the future.”
Martha Dudek, MS, CGC, assistant professor of Obstetrics and Gynecology and program director of Vanderbilt’s new MGC degree, said that genetic counseling is a degree in demand.
“We currently have five open faculty positions for genetics counselors at VUMC,” she said. “At our national meeting, there were so many job postings there wasn’t even enough room on the job boards.”
