The expanding ability to decipher human DNA has made genetic testing widely available. But it takes a pro to translate the information.
Jenny Saffran remembers having a strange, disjointed feeling as she walked into the UW Carbone Cancer Center for her first appointment with a genetic counselor in 2006.
She wasn’t sick; she was young and healthy, with a family and a full professorship in psychology at UW–Madison. But for several years, she had suspected that she carried a gene mutation that would put her at high risk for breast and ovarian cancer. Now she was going to find out for certain.
The appointment was not what she had expected.
“I assumed,” recalls Saffran, “[that] all I had to do was walk in, say my mother had ovarian cancer and I’m Ashkenazi Jew, and they would say, ‘Sure, fill out the paperwork.’ ” Instead, she and a counselor spent an hour working on a detailed family history before deciding that she was a good candidate for genetic testing.
When Saffran returned to learn her test results, she was prepared for bad news — concerns that intensified when she noticed that a box of tissues had been placed in the center of the table. Then the counselor confirmed her fears, telling Saffran that she had tested positive for the gene mutation.
“It’s life-changing information you are being given in a moment,” Saffran says.
Estimates from the National Cancer Institute note that women with this mutation have a 55 to 65 percent chance for developing breast cancer and a 39 percent chance for ovarian cancer — far higher than the general population.
Her genetic counselor was prepared not only to deliver such news, but also to talk about what the test results meant for Saffran, her children, and other family members. They discussed her short-term and long-term options. Saffran was deeply impressed by her counselor’s knowledge of the science and by the compassion and empathy she conveyed.
“I felt like my genetic counselor ended up being my therapist, my health care advocate,” Saffran says. She’s continued their relationship, consulting with her counselor about procedures and other medical concerns.
Before seeking out a genetic counselor, Saffran had given lectures about child development to the students in the UW’s genetic counseling program. But that professional experience evolved into a personal connection, giving her a fuller understanding of counselors’ critical roles in our medical system. As the field of genetics has matured and become a legitimate part of medicine’s toolbox, and as new technologies and lower costs are making it possible to investigate our own DNA, genetic counselors are invaluable in helping others understand this emerging knowledge.
Casey Reiser ’77, MS’80 has seen a lot of that knowledge emerge. Reiser, a tall, commanding woman, speaks in careful, measured tones. But when asked to remember her introduction to the science of DNA and heredity, her answer comes fast and certain.
“Ninth grade, Mr. Alvarez’s science class, Riverside Junior High School in Watertown, Wisconsin,” she says with a smile, recalling a lesson from more than forty years ago. “I thought genetics was
the coolest thing ever.”
Little did she know then that the UW had thought so, too, establishing the country’s first academic department for genetics in 1910, with an emphasis on agriculture. In 1957, a second department, medical genetics, was founded.
While in high school, Reiser contacted John Opitz, then a UW faculty member in medical genetics and pediatrics, and she was thrilled when he agreed to a meeting. With her newly issued driver’s license, Reiser drove to Madison and talked to Opitz, a step that fueled her growing interest. Two years later, she entered the UW and began taking every genetics class she could. She went on to enroll in the university’s master’s program in genetic counseling — which had started in 1976 — and graduated in its third class.
After settling in Cleveland for a while, Reiser returned to Madison. Beginning in 1991, she served as a genetic counselor in the Waisman Center’s Bone Dysplasia Clinic, working with children with bone growth disorders and structural abnormalities. When the genetic counseling program’s founder, Joan Burns MS’57, MS’73, retired in 2000, Reiser was named as the new director.
The science of genetics has come a long way since Reiser was in junior high. Today, deciphering DNA is commonplace, thanks to rapid advances in the biotech industry.
In 2003, the first complete map of the human genome was published, spelling out the genes — the regions of DNA known to code for proteins — and the random DNA that make up a human being. The project took thirteen years and carried a price tag of $2.7 billion. Since then, the cost to sequence genomes has dropped precipitously; a similar endeavor today costs just under $6,000, according to numbers released by the National Human Genome Research Institute in April 2013.
Now that we know the code for our DNA, the next step is to understand it. Currently, it’s estimated that humans have between 20,000 and 25,000 genes. Every week, scientists publish papers on the roles these genes play in our biology. When a gene is implicated in cancer or intelligence or personality, it’s big news. But for some segments of the population, the discovery that a certain gene causes a disease is more than just a news story — it’s personal. These are the people who become genetic counselors’ clients.
“We work with families who have, or are at risk for having, a family member with a genetic disease,” Reiser explains. The conditions can range from a mutation in a gene passed down through a family, such as Huntington’s disease or cystic fibrosis, to an error that is introduced early in conception, such as the extra chromosome that causes Down syndrome.
The term genetic counselor was coined in 1947 — six years before scientists James Watson and Francis Crick identified the structure of DNA. Early genetic counselors, who were almost exclusively medical doctors and scientists, were limited to identifying the heritability of diseases through reconstructed family histories. If you wanted to know if you or your children might be afflicted with a family disease, genetic counselors could give you a rough idea of the probabilities involved, but not much else.
The 1970s saw the widespread adoption of new technologies in prenatal medicine. Ultrasounds could detect developmental issues while the fetus was still in the womb, and amniocentesis — a mildly invasive procedure — gave physicians the ability to identify damaged or duplicated chromosomes from cells taken from a pregnant woman’s uterus. The procedures could confirm significant defects in a fetus and make it possible for parents to make informed decisions related to a pregnancy.
These factors were game changers for the profession of genetic counseling. Newly minted counselors were now part experts and part social workers, trained both to understand the science and to explain it compassionately to patients and their families.
“When you’re [working as] a counselor, you may be talking about the mechanism of a disease, but in the back of your mind, [you are] thinking about how to share that information as [your clients] incorporate it into their decision making,” Reiser says.
A central tenet of the profession of genetic counseling is that the client makes any and all decisions about treatment. While Reiser says that clients are good at making these decisions, the medical world is new to them and they may not know what questions to ask.
Saffran’s genetic counselor helped her every step of the way. She provided a list of doctors and helped Saffran navigate the health care system. She also wrote a letter to Saffran’s insurance provider, articulating why it should cover the cost of a procedure that would decrease her chance of ovarian cancer by 80 percent and her chance of breast cancer by 30 percent — and the cost was approved.
“[My counselor was] a real support person and advocate during what was a pretty challenging time,” Saffran says.
Understanding clients — as well as their genes — is so central to genetic counseling that those applying to a training program must demonstrate a commitment to both. The UW program that Reiser directs received more than one hundred and fifty applications for the 2013–14 academic year, and five students were accepted. Because even introductory genetics courses require extensive prerequisites, most applicants have degrees in the biological sciences, she says — but degrees and grades alone are not enough.
“There are a lot of expectations outside of coursework,” Reiser says. Most students accepted into the program have talked with or shadowed genetic counselors and have been involved with advocacy work, such as volunteering at a hospice, working with individuals with physical or mental disabilities, or answering phones at a crisis hotline center. These experiences help students to understand their future clients as well as the inner workings of the health care system.
Often, successful applicants know early on that they want to pursue this career. For Ashley Klein ’13, the work intrigued her starting in high school. “My mother brought me a book about careers, and the last page was about genetic counseling,” she remembers. “It brought all [of my interests] together.”
Today Klein teams up with a pediatric geneticist to work with children with developmental delays who are being seen at the biochemical genetics and medical genetics clinics at the UW’s Waisman Center. Sometimes the clinics identify symptoms that point to a well-known disorder, such as Tay-Sachs disease or Klinefelter syndrome, that can be easily confirmed with established tests. But in other situations, extensive genetic testing is called for to inform a diagnosis. In all cases, Klein spends time meeting with the clients and their families, explaining tests and results, gathering family histories, and discussing treatment options.
Not all genetic diseases become apparent during childhood. Individuals with a family history of Huntington’s disease, for example, may be uncertain about getting tested, especially when there’s no obvious treatment. In such cases, a genetic counselor may provide context to help them decide.
While none of her clients have had full genome sequencing, Klein often orders array testing, also called microarrays or gene chips. This test is carried out on a device about the size of a thumb that can contain tens of thousands of snippets of DNA found at exact locations on the chip. DNA isolated from a client’s cells is labeled with a fluorescent detection molecule and added to the chip. Because of DNA’s chemical makeup, it is possible to get the client’s DNA to “stick” to a matching strand of DNA on the chip. Using lasers and a powerful microscope, technicians can identify the bound DNA and confirm gene duplications, deletions, or even single-molecule mutations.
Test results are summarized in a brief report, and genetic counselors step in, translating the jargon and percentages in a way that is meaningful to their clients.
Because not all hospitals employ genetic counselors, especially those who specialize in one area of medicine, physicians may refer patients to an outside source for help. These remote genetic counselors perform the same services as a local counselor, but the consultation takes place over the phone or online. Testing services also employ genetic counselors to ensure that a given test is appropriate and to interpret results.
Traditionally, people seek genetic testing because they know that they or their offspring are at risk. But it has now become possible for anyone who is curious about ancestry or genetic traits hidden in DNA to purchase a test from a commercial online company, collect some saliva, and receive a full report on nearly 250 of their genetic sequences. The information may cover a range of details — from where a great-great-grandparent originated to genetic markers associated with increased risk for conditions such as diabetes or certain cancers.
But these online companies have raised concerns at the U.S. Food and Drug Administration (FDA). In fact, late last year, the FDA directed one well-known company, 23andMe, to stop selling genetic tests altogether while it undergoes regulatory review. The company said it would comply by providing only ancestry information and genetic data without interpretation.
Choosing her words carefully, and doing her best not to sound patronizing, Reiser says she worries about people making major health decisions based on such reports from such companies.
“The more information [clients] have, the better, but they need to have a real understanding of what [the tests] mean,” she says.
A client of 23andMe, for example, could discover that he or she is at risk for Type 2 diabetes. However, genetic factors can account for only 26 percent of a person’s chance for developing the disease. An individual’s weight, exercise routines, and more can play a significant part in an accurate risk number.
But, Reiser stresses, “Risk is per the individual.” She says that while it’s tempting to look only at the numbers, you need to know what is personally critical to determine an optimal course of action. “If a person has a one in one hundred chance for a disease and [he or she doesn’t] know anyone who’s had it,” explains Reiser, “the response will be very different from someone whose father died from that disease.”
It’s a genetic counselor’s job to understand the person and serve as a guide through the process of making a decision. Reiser shares a hypothetical example of a woman who, at age forty-two, is finally pregnant after years of infertility treatments. Her age puts her child at risk for Down syndrome. Should she take the slight risk of miscarriage that amniocentesis would bring? She might decide that after so many years of trying, she doesn’t want to do anything that might endanger the pregnancy. Or she might think about her age and the difficulties she would experience raising a child with developmental issues and decide that she needs to know the results of that test. While Reiser knows her client will have a reaction, “until I meet with her, I don’t know which way it will go,” she says.
While advances in DNA sequencing technology have allowed us to detect more and more medical conditions, our ability to cure those conditions is lagging behind. Reiser acknowledges that genetic counselors often must tell clients difficult news, but adds that they also provide invaluable context.
“Sometimes the outcome is to empower someone to make the best possible decisions and to make the best possible adjustments to new information,” she says. n
Kim Smuga-Otto ’97 is an assistant researcher at UW–Madison.
Published in the Summer 2014 issue
Shellie Kieke June 11, 2014
Thank you for your insightful feature highlighting genetic counseling! I am currently a genetic counseling student tackling a new career at age 40, and so many people don’t even know what genetic counselors do or how they help their clients. Your article will be very informative to many people.
Sean Cannan July 14, 2014
Author Kim Smuga-Otto failed to mention the great irony here. That is, the same children with “structural abnormalities” may now be violently killed in utero rather than helped later in life at the Waisman Center’s Bone Dysplasia Clinic, simply because they are discovered to have these disabilities.
In fact, the entire phenomenon of the new Eugenics was left out of this article altogether. Most parents “make informed decisions related to a pregnancy” that include aborting any child with Downs Syndrome, and indeed some decide to abort a child simply because she is found to be a little girl rather than a little boy. “Significant defects” in these cases can include having ovaries and a uterus that are discovered in an ultrasound. Like it or not, this is the world we live in today. And are these really the kind of things the UW should be taking an active part in?
People obviously have different opinions regarding these emotive issues. But pretending that none of them are associated with this story is intellectually dishonest and – obviously – politically motivated. This appears to be a recurring theme also, wherein a political bias permeates important stories. It would be a great improvement if On Wisconsin magazine and the Wisconsin Alumni Association strived to be more honest, fair, and comprehensive when dealing with controversial subjects like these.
Sean Cannan ’89
John Doe August 12, 2014
We have two children with very rare genetic conditions. Unfortunately, the reality of the services provided by the Waisman Center at UW and the genetic counselors at St. Marys, far differ from heart warming example in this article. Our experience, and other families who have children with very rare genetic conditions, is grossly different than what is portrayed here and on tv and movies (shock right). It is on the shoulders of the parents to find out information and resources, not genetic counselors.
E. W. August 12, 2014
This is a well-written article that details the advancements in genetic knowledge and explains a counselor’s role. It is very clear that the client makes the decisions. The UW has always been at the forefront of advancing knowledge and should indeed remain so. How an individual chooses to use that knowledge is not for any institution to dictate. A discussion of the political and religious issues surrounding the use of new information is beyond the scope of the article and was rightly not included.