The cost of sequencing the human genome has drastically decreased over the past 11 years. Current prices reflect both the laboratory costs of running the sequence as well as the labor involved with interpreting the results.
Nicole Hook, a genetic counseling graduate student at Northwestern University's Feinberg School of Medicine, explains in this clip how technological advancements are not the final answer to all health issues.
Genes are scary.
And that’s according to Catherine Wicklund, the director of graduate studies in genetic counseling at Northwestern University’s Feinberg School of Medicine.
“There is this genetic [sensitivity] that exists around the field,” she said. “People don’t really understand genetics and what it involves, so they’re scared of it.”
This lack of understanding is due, in part, to the specialized nature of genetic counseling. Genetic counselors are traditionally trained in prenatal care, pediatrics and cancer treatment, she said. As a result, their patient base is often limited.
“We interact mostly with mothers and young children,” she said.
The completion of the Human Genome Project in 2003 caused the field to expand. A joint effort by the U.S. Department of Energy and the National Institutes of Health, the research took 13 years and cost the government an estimated $3 billion. The result was a map of the entire catalog of DNA in the human body.
“This gave researchers more information than they could handle,” said Dave Kisor, a professor of pharmacokinetics at Northern Ohio University in Ada, Ohio. “Suddenly we had 3 billion nucleotide pairs to examine.”
Since that initial mapping, the cost of sequencing the human genome has dropped dramatically. According to the National Human Genome Research Institute, it currently costs approximately $7,000 for an individual to have his genome sequenced. This cost reflects both the use of sequencing instruments and reagents as well as the labor involved with interpreting the results.
With all that genetic information readily available, genetic counselors have had to adapt their role in the clinical setting.
“It used to be that you would test one gene at a time,” Wicklund said. “There were very few tests available, so you would suspect a disorder based on symptoms and then order a test of that one gene to confirm.”
Now, in addition to single gene disorders, genetic counselors also look for risk factors for conditions including heart disease and diabetes among an entire catalog of DNA. They then translate the information and make it applicable to physicians who are not specifically trained to interpret the results of genetic testing.
“Geneticists are good team players,” Wicklund said. “They can work with neurologists and cardiologists, for example, to show how genetic information can make treatments more effective.”
A common example is Plavix, a medication commonly used to prevent clotting. According to Kisor, the drug is often prescribed after stents are used to open a clogged artery. In certain individuals the drug does not work, or works inadequately, and plaque builds up in the artery. To avoid that risk, genetic counselors can check for the presence of the genes responsible for metabolizing the drug and switch them, if necessary, to an alternative medicine.
“It’s also applied in less well-studied areas where there is less information to rely on,” said Khateriaa Pyrtel, a graduate student in the Northwestern program. “Schizophrenia is an example. We can look at frequency of presentation and age of onset to develop a profile,” for comparison, she said. Patients who demonstrate risk factors can be introduced to preventative therapies before symptoms of the disorder worsen or even present.
While useful in a clinical setting, it is not the only place the information is relevant. Increasingly, leading companies such as 23andMe that offer personal genomic testing are recruiting genetic counselors to interpret test results.
“You look at the output of the machine and decide if what you found may be causing a condition,” said Nicole Hook, a graduate genetics student at the Feinberg School of Medicine.
This opportunity has changed the look of the job market for graduate students like Hook and Pyrtel. As a result, their curriculum has expanded to allow for learning opportunities in fields outside of a traditional clinical setting.
“We had a rotation at the University of Chicago where we were actually working within a lab,” Hook said. “It was not patient oriented. [We] worked interpreting results,” as you would in an industry setting.
Though the applications are changing, the core of a genetic counselor’s job is still to teach.
Elizabeth Leeth, a genetics professor at Feinberg and manager of the Center for Maternal and Fetal Health at North Shore University Health System in Evanston, said students continue to participate in practice-based lessons. During these classes, students research a genetic disease and then teach it to the class. The goal is to make complicated information understandable.
“Describe it to me like I’m a girl and I just found out I’m XY,” said Leeth to students. “What’s a receptor? What’s a hormone? Make me understand.”
It’s hoped that the result of effective teaching is the elimination of fear and a more effective use of genetic understanding.
“We all have genes,” Wicklund said. “We want to normalize it so it’s not so scary."