Genetic counselors search DNA for answers on disease inheritance
Deciding to have genetic testing is a very personal choice, one that often requires careful consideration. Sometimes, however, time is of the essence.
“A patient’s daughter called our clinic nursing triage line frantically wanting to get patient genetic testing before she passed away,” says Heather Highly, RN, in the Neurology Clinic.
Highly says Tiffany Grider, genetic counselor in the Neurology Clinic, immediately packed up her supplies and headed to the patient’s bedside at a nursing home. Grider also coordinated further testing with the funeral home.
“All of this was to help the family get answers related to their mother’s Alzheimer’s disease and if there was a related genetic component,” says Highly. “Tiffany immediately recognized the importance of this situation and went above and beyond to provide exceptional care for this patient and her family.”
Grider says this particular family had an early age of Alzheimer’s onset, so the symptoms started for this family prior to the age of 65. That made it increasingly likely that it was genetic. Grider needed to get DNA from the mother in order to test for specific genes.
“The daughter was extremely grateful,” says Grider. “I was doing my job; she had a much more difficult situation dealing with her mother. I was more than happy to provide that small service.”
Providing education and answers
Grider and her team at the Neurology Clinic test and counsel families with genetic conditions of the nervous system, including those with dementia, muscular dystrophy, ALS, and epilepsy.
“It’s an absolutely personal decision, and I never pressure anybody to do testing,” she says. “We’re counseling the people who are at risk and are trying to decide, do they actually want to find out if they inherited the disease?”
Part of the counseling process is to point out science doesn’t have gene therapy for most conditions right now, even for a positive result. That’s why education is an integral part of her job.
Wherever possible, Grider also identifies research and therapies that can help her patients.
An early love for genetics
“I have been interested in genetics since I was a child and first learned about it,” says Grider. “I was originally interested in curing cancer, because my dad had cancer.”
Once Grider got into college and began doing lab work, she realized she missed the human element.
“I was more interested in working with people, so the genetic counseling combined both of those interests for me,” says Grider.
She’s excited about future advances and innovations in her field.
“Nothing happens as fast as we want to with genetics, but we’re already seeing certain genetic conditions having gene therapy,” says Grider. “So, the second we can diagnose and confirm, we have a whole new treatment to offer them.”
Grider says rather than trying to repress or cover the symptoms, these new treatments actually change what’s causing the symptoms. She’s hopeful that more genetic conditions will have available gene therapies.
In the meantime, she and her team stand at the ready to help.