As prevalent as DNA has become in our modern vocabularies, the rapid growth of genomics, the implications of genetic research on public health and public policy and the growing need for genetic counselors are at the forefront of conversations at Indiana State.
An explanation of a genetic mutation can be summed up in what seems like a lesson from English class: “Take the sentence, ‘The cat sat on the mat.’ Imagine that we made a typo in one of those letters — say, the ‘c’ in cat — it would then be ‘The rat sat on the mat,’ and that would give you a different interpretation of that sentence,” said Rusty Gonser.
Associate professor of biology and director of The Center for Genomic Advocacy at Indiana State, Gonser explains that “the very something happens in your cells in your body, and that’s where you start getting diseases.”
At one point, everyone has mostly likely answered a medical history question such as “Does your mom or dad have any health problems?” What does the answer mean? That’s where genetic counselors come in. They help to assess risks of inherited disorders for individuals or their families.
“You could look at it this way: We’re entering into what you could call personalized medicine,” said Gonser. “We now have the ability to sequence someone’s genome, figure out what’s wrong with them and maybe the drugs we’re giving you are in the wrong dosage because your metabolism is different. We can now determine that from your genetics.”
In less than 75 years, we’ve gone from discovering the shape of DNA — deoxyribonucleic acid — to sequencing the entire human genome. Gonser explained that if someone wished to commit their life to typing out that genome on 8.5-by-11 sheets of paper, single-spaced with regular margins and 12-point font, the papers would stack as high as the Statue of Liberty.
“So when you think about that, that’s a lot of information to have typos in,” Gonser said.
With the advent of the new master’s degree in genetic counseling at Indiana State University, the benefits and fallbacks from rapid growth in the field of genomics, the implications of that research on public health and public policy and the prospects for current and interested genetic counselors at Indiana State are at the forefront of the discussion.
Megan Tucker is the graduate program director of the new Masters of Science in genetic counseling, in addition to her role as a senior genetic counselor for the Medical Genetics and Neurodevelopmental Center and Center for Prenatal Diagnosis at St. Vincent Hospital. She began her responsibilities as graduate program director at Indiana State in April.
“Where genetic testing has been really helpful is that it’s been really able to take a little bit of the guesswork out,” Tucker said. “Not even five years ago, our testing strategies were slightly different from what they are now.”
Tucker’s clinic at St. Vincent tends to see children with developmental delays and structural birth defects, such as a heart defect or cleft lip or palate. Not long ago, her team had to make educated guesses about the causes to inform the family of possible underlying issues and interpret their child’s condition. These educated guesses were formed by looking at other children with the same symptoms and assuming shared symptoms meant a shared condition. Now, instead of examining these symptoms, researchers can run genetic tests to confirm diagnoses.
This ability to look into genes has led, among many things, to the ability to see the connections between different diseases. One of the most common syndromes Tucker has come across in children is DiGeorge Syndrome, or 22q11 Deletion Syndrome, where the child exhibits a heart condition and a palatal deficiency. It was once called Vilocardialfacial (VCF) Syndrome, and DiGeorge was a separate syndrome for similar children that also had problems with calcium levels and psychological problems. By finding that both these syndromes were caused by the deletion of the 22q1 chromosome, they discovered that these two “separate” issues were really on a spectrum with one another, so it was clear the children once diagnosed with VCF were also at risk of the low calcium levels and psychiatric problems of DiGeorge and could be treated for these symptoms earlier.
“There’s a little boy in Wisconsin, his name was Nick Volker,” Gonser said. “By the time he was 4, he had 150 different surgeries because they couldn’t figure out why he would eat and get sick. And what they did was they … figured out he was missing a gene. So instead of giving him surgeries, they were able to give him umbilical cord stem cells that corrected the problem, and now he could eat normally.”
Gonser also described a similar case that consisted of a group of children who were thought to have Down syndrome, but upon sequencing their genomes, it was found that they were missing the genes that produced dopamine. They gave the children dopamine and found a few other genes that were missing, gave them the corresponding drugs, and according to Gonser, “they were functioning perfectly normal, you wouldn’t even know they had anything wrong with them.”
Gene sequencing also enabled us to discover, among many other things, that colon cancer is hereditary and that mothers with BrCa1 and BrCa2 (breast cancer genes) can increase their son’s risk for prostate cancer by passing on those genes. Individuals who are predisposed to certain conditions are then tested earlier for the best possible chance of prevention.
“So now, with genomics, we’re starting to see the relationships between these different genes with other cancers and diseases,” Gonser said.
This information is important, but it hasn’t always been delivered in a clinical setting with genetic counselors nearby to translate results to patients. There was a company called “23andMe” that made it possible to screen for certain genetic typos over the counter and deliver a risk analysis. Tucker already expressed concern at the growing number of fearful families coming to her with abundant and questionable research studies about different conditions, easily accessible through the Internet. Imagine the fear someone would have if they took an over-the-counter test and discovered they have seven genes for cardiac disorders.
“So that now becomes the negative part of the technology. What do we do with (the information)?” Gonser asked. “Which is where genetic counseling comes in. Just because you have seven genes for cardiac disorder doesn’t mean you’re going to have a heart attack. What it says is, ‘If I changed my diet, if I changed my environment, I can change how the book’s interpreted.’”
Despite the snail’s pace of public policy, there are already a few measures to protect patients. It is now a Health Insurance Portability and Accountability Act (HIPAA) violation to share genetic information of patients without their permission (such as to insurance companies) and as of the Genetic Information Nondiscrimination Act of 2008 (GINA), individuals cannot be denied access to group insurance policies or employment due to pre-symptomatic genetic testing results.
These are small steps toward regulation in the growing face of genetic advancement and its related issues. “23andMe” was able to sell tests to worried individuals with little or no medical background or medical literacy before the FDA finally stopped it from providing tests, and very few states have specific consent laws regarding DNA collected from cheek swabs and other tests, the information of which may be distributed to other companies, unknown to the DNA’s owner.
“I think public policy is trying to catch up,” Gonser said. “But public policy on these issues has to be bipartisan. The problem with public policy is that the politicians are often not scientists.”
The outlook for current and aspiring genetic counselors is bright.
“I see it moving out of the specialty diagnostic clinics and into the broader scape of general health care,” Tucker said. More than ever, genetic counselors are taking roles in laboratories, where they can decrease the number of unnecessary tests by helping to conduct the correct test on the most appropriate family member — which is not always the person who requests a test, but possibly a parent — and in sales, where they can answer questions. There are genetic counselors working with the Indiana State Department of Health, at St. Vincent and in nearly every hospital, and they are being sought by insurance companies considering covering genetic testing.
“So counselors are starting to take some of these other roles outside the classic clinic and into this broader spectrum already,” Tucker said.
There are only 32 genetic counseling programs in the country, and Indiana State — whose program was born out of the Unbounded Possibilities Initiative — is home to one of them, connecting the East and West coasts to provide more students with the opportunity to join the new generation of genetic counselors.
“That’s what is nice about ISU,” said Gonser. “We’re on the cutting edge.”