December 2009 - When she was a master’s student in genetic counseling and sitting in on her first-ever patient visit, Maria Johnson watched the genetic counselor she was shadowing inform the patient—a woman with two small children—that she had, indeed, inherited the mutation for Huntington’s disease from her mother. The patient’s mother, who also was in the room and already was showing signs of the crippling and incurable neurodegenerative disease, started sobbing.
“That experience really ingrained in me many things,” said Johnson, “like how sensitive and potentially life-altering genetic counseling sessions can be when genetic test results are shared and how I never want to get to a point in my career where I’m just going through the motions.”
Johnson first started working as a full-time genetic counselor at the Johns Hopkins McKusick-Nathans Institute for Genetic Medicine (IGM) in February 2008, seeing patients with a wide range of genetic conditions. Recently the IGM hired a couple of new genetic counselors which allowed Johnson to focus on patients with metabolic disorders such as phenylketonuria (PKU), a condition in which an affected person is unable to break down the amino acid phenylalanine, which is found in certain foods like meat, milk, and eggs.
“One thing I really like about working with metabolism patients is that sometimes you can offer the family something they can do that can prevent a bad outcome,” said Johnson. “For example, in an individual with PKU, you can limit protein containing the amino acid phenylalanine in their diet to fully prevent mental retardation and seizures.”
When a new patient enters the clinic for the first time, Johnson starts the appointment by answering the patient’s questions and taking a medical and family history, back three to four generations if possible. The attending physician performs a physical exam, and together Johnson and the physician sift through the medical and family histories, physical exam, and sometimes the medical literature to figure out which genetic condition, if any, the patient might have. This sifting process may take five to fifteen minutes while the patient waits or, in more complicated cases, it may extend beyond the patient’s appointment. Johnson and the physician often order genetic tests—blood tests, for example—to confirm their suspicions.
Test results take anywhere from two weeks to several months to come back, at which point Johnson may call the patient or meet in person, depending on the patient’s preference. If Johnson calls and needs to leave a message, she tries to leave a neutral one.
“I try not to say I have good news for you unless I know the patient would think it’s good news.” Sometimes when there’s a family history of a disorder, explains Johnson, a negative test result may bring about negative feelings. For example, as a student, Johnson once saw two sisters whose mother had breast cancer that were tested for a genetic mutation that contributes to the majority of hereditary breast cancer cases. One sister tested positive; the other, negative. The latter felt excluded from what her mother and sister had both experienced and guilty that she had escaped diagnosis.
If a patient is diagnosed with a metabolic condition, Johnson and the physician typically meet with the patient or the patient’s parents around the time that the diagnosis is made and also during clinic follow-up appointments. During these first few appointments, Johnson helps patients and their families understand a diagnosis and/or cope emotionally with a diagnosis, depending on their specific needs. For patients who require additional counseling on genetic test results or a diagnosis, Johnson may see them in the absence of a physician for counseling-only sessions.
The counseling Johnson provides to patients varies considerably with their age. For a newborn with PKU, she meets with the newborn’s parents to educate them about the condition, direct them to helpful resources about the disorder, and discuss the chances of a future child having PKU. For patients in the adolescent years—when they begin to “become more independent and take more ownership of their care”—Johnson may meet them with their parents or, if there are sensitive issues that need to be addressed, one on one.
Johnson divides her professional time between the Harriet Lane Clinic in the David M. Rubenstein Child Health Building and her office in a building across campus. Approximately four times a month, she spends an entire day in clinic, where she sees, on average, four patients per day. On non-clinic days, she sees patients—usually in the Harriet Lane Clinic—for counseling-only sessions and on hospital inpatient floors when she’s on call. Sometimes her patients have heartbreaking stories.
Last fall, one of her ongoing patients, a tiny baby in the Neonatal Intensive Care Unit, passed away. “I grieved and then struggled with how appropriate it was for me to grieve since I wasn’t family, and I wasn’t a friend. I was simply a genetic counselor who had worked with the family.”
For emotional support during such distressing cases, Johnson often turns to her fellow genetic counselors. Genetic counselors in the IGM come together voluntarily in a peer group about once a month to share difficult cases— to maintain patient privacy they don’t ever reveal any names—as a way to get advice and grow professionally.
“In the beginning, setting work-life boundaries was difficult for me,” said Johnson. “I would take all these emotions home with me and continue processing them, which is dangerous because it can lead to burnout and emotional fatigue.” Sharing difficult cases with her peers helps her “process them so that they can stay more in the workplace.”
While some cases can be emotionally difficult, many of Johnson’s experiences as a genetic counselor are positive. She really enjoys establishing ongoing relationships with patients, helping patients leave with a better understanding of a particular disorder, and passing along joyful news to patients.
For example, Johnson recalls seeing a female patient who was a few months away from getting married and thinking ahead to having children. The woman desperately wanted to know if she was a carrier for Adrenoleukodystrophy, a neurodegenerative disorder that had killed her uncle and afflicted her brother. Her genetic test results came back negative.
“I remember calling her, and she screamed out loud with joy. She said, ‘This must be the best part of your job, calling people like me and giving us news that we wanted so badly.’” Johnson smiled. “That’s very true.”
--by Michelle Jones
The author is a 5th year graduate student in the Cellular and Molecular Medicine (CMM) graduate program and works in the Getzenberg lab.
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