Chicago, IL || February 2017 - - According to University of Chicago genetic counselor Jessica Stoll, MS, CGC, the vast majority of patients who come to see her for a first visit have no idea what genetic counseling even is. “I think the word ‘counselor’ throws them off,” she says, sympathetically.
For the most part, the people who are directed to Ms. Stoll and her colleagues at the University of Chicago’s Gastrointestinal Cancer Risk and Prevention Team have been referred to the unit because one or more of their close family members has been diagnosed with some type of cancer. “What frequently happens,” Ms. Stoll explains, “is that when a patient is receiving cancer treatment, their family members receive crash course educations on numerous aspects of oncology. They learn about radiation, or chemo, or surgery – and sometimes they hear that a cause of a particular cancer may be hereditary in nature. And that leads them to us.”
Genetic counselors are employed in a variety of fields. Generally speaking, they work to identify and care for individuals who have increased risks of hereditary diseases or inherited disorders. As far as cancer is concerned, genetic counselors consult with family members of cancer patients and help them determine whether or not the cancer in the family is related to an underlying genetic predisposition.
As a field, genetic counseling is relatively young, even within the still developing world of DNA-related medicine and research.
The first program for genetic counselors was established at Sarah Lawrence College in 1969 through something of a fluke (the New York Times announced the creation of the curriculum before it was officially green-lit; the ensuing public support for the discipline convinced Sarah Lawrence’s leadership its conception had merit). The program, and the field itself, obtained a wider level of legitimacy and acceptance following the American Board of Genetics establishing an official certification exam for genetic counselors in 1981. Today, the National Society of Genetic Counselors has helped popularize the field among healthcare providers nationwide and connects patients with appropriate local resources.
“It’s a very progressive school of medicine. We’re playing detective and looking for something within a patient’s DNA. Most medicine is very reactive – you’re treating an existing illness or problem. But [...] if we determine a risk is there, a patient can be proactive about their health management and hopefully address something earlier." - Jessica Stoll
As far as the families of pancreatic cancer patients may be concerned, genetic counselors like those at the University of Chicago can play an instrumental role in a person taking ownership of their own health.
“It’s a very progressive school of medicine,” offers Ms. Stoll. “We’re playing detective and looking for something within a patient’s DNA. Most medicine is very reactive – you’re treating an existing illness or problem. But when it comes to something like pancreatic cancer, which is hard to find if you’re not specifically out to find it, and which is hereditary in about 10% of cases - if we determine a risk is there, a patient can be proactive about their health management and hopefully address something earlier."
At the same time, Ms. Stoll notes, genetic counselors have to seriously consider a patient’s mental health and wellness. “It’s crucial that a patient understands what potential test results may mean, and what options will or won’t be available if we discover something. For some people, having the information about risk is incredibly beneficial, for others, it’s too much of a strain.”
When a patient concerned about pancreatic cancer proceeds with testing, a counselor will undertake two investigations: first, they will create a familial map of cancer history through medical records; then a patient may be offered a genetic test (usually by way of a simple blood test).
Counselors look for particular markers, usually testing about 20 specific genes. If no mutation is detected, on one level, the news seems reassuring. But as Ms. Stoll is quick to point out, because the hereditary causes of pancreatic cancer are not definitively known, a negative result “does not mean a patient has zero risk.”
On the flipside, if a mutation is discovered, it doesn’t necessarily mean a patient is guaranteed to eventually face pancreatic cancer – just that they have a higher risk of developing it. “No matter what, test results are complex,” explains Ms. Stoll. “For some people, a positive test result is not necessarily heartening. But for others, the information is a positive, in that it may allow you to be proactive.”
“Cancer awareness is risk awareness. Just like how men and women of certain ages know it’s wise to screen for breast and prostate cancer, we need to ensure people know that pancreatic cancer may be hereditary. If you know your risk, screening may help you manage it.” - Lynda Robbins
If a patient has a genetic mutation, pancreatic cysts, or another potential precursor for the illness, their genetic counselor will consult with an oncologist, and typically schedule detailed yearly screenings - often alternating between magnetic resonance imaging (MRI) scans, and endoscopic guided ultrasounds (EUS).
Some patients will never find anything and will never have to grapple with pancreatic cancer. For others, like Tom Collins, a physician in Maine, yearly screenings in a Rolfe funded family registry at Johns Hopkins Medicine allowed his physicians to diagnose his cancer in its earliest, most treatable stage. He credits the program with saving his life.
In 2016, the Rolfe Foundation hosted Ms. Stoll and her colleague at the University of Chicago, Sonia Kupfer, MD, for an educational symposium concerning genetic counseling. Since then, the Foundation’s Executive Director, Lynda Robbins, has noticed a marked uptick of interest in the field.
“It’s all part of raising awareness,” Ms. Robbins says. “Cancer awareness is risk awareness. Just like how men and women of certain ages know it’s wise to screen for breast and prostate cancer, we need to ensure people know that pancreatic cancer may be hereditary. If you know your risk, screening may help you manage it.”
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If you are the family member of a pancreatic cancer patient and are interested in learning more about genetic counseling, there are several ways to contact a counselor.
Published: February 10th, 2017.
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This article also appears as part of the Rolfe Pancreatic Cancer Foundation’s
electronic newsletter, The Catalyst (Vol. 4, February 2015 – The New Chapter issue).
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