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Serving families with science and empathy

Of all the families that Christophe Cordier has helped, there is one he will never forget. In 2012, Cordier, a genetic counselor at the Strasbourg University Hospitals in France at the time, was tasked with telling a young couple that the rare tumor their daughter had just been diagnosed with was due to a mutation that ran in the family. The mutation gave bearers— children and young adults in particular—a greater risk of developing several types of cancers. Further genetic testing revealed that the mutation was on the father’s side and that one of the couple’s other two children had also inherited it. The father’s sister had it too, as did her two children. Within the next 6 months, the couple’s two affected children and the father’s sister all died from cancer.

Being confronted with such familial suffering “is very hard” to take in emotionally, Cordier says. “This job isn’t for everyone,” he adds.

But Cordier was also in a position to refer the family to other professionals for further psychological support and to enroll them in a clinical trial investigating a method to improve early cancer detection in such patients. He also worked with the couple as they decided whether to have another child and whether to go through in vitro fertilization to limit the risk of passing on the mutation. Being close to patients and their families is one of the most rewarding aspects of the job, he says. “Patients confide in me regarding both their personal and family medical histories, but they also come to me with their daily concerns, doubts about the disease, worries for their children, and feelings of culpability.”

Handling often difficult clinical situations, explaining the role of genetics in disease, and guiding families as they adjust to their new reality are the cornerstones of a genetic counselor’s job. And for people trained as research scientists who, like Cordier, want to “be able to give patients an answer to their disease, their suffering, and their desires,” genetic counseling can offer a uniquely rewarding career at the interface of genetics, medicine, psychology, education, research, and counseling.

Helping patients make sense of genetics

As more and more becomes known about how genes cause or influence disease and advanced technologies peer ever more deeply into our DNA, genetic analysis has become increasingly integrated into clinical practice. In addition to helping doctors make diagnoses and decisions about treatment, genetic advances have put patients into a more proactive role when it comes to uncovering, managing, and preventing inherited disorders. This, together with a new diagnosis, can generate a lot of distress that few patients are equipped to confront.

Genetic counseling was born out of the need and desire to help those patients “understand and adapt to the medical, psychological and familial implications of genetic contributions to disease,” according to the U.S. National Society of Genetic Counselors (NSGC). As Gillian Hooker—who worked as a genetic counselor after completing a Ph.D. in molecular, cellular, and developmental biology—explains the job, “a lot of it is about helping [patients and their families] integrate that information into their life, cope when things are very difficult …, find ways to make meaning out of what’s happening to them, and move forward.”

Genetic counselors typically work in a clinic within multidisciplinary teams of doctors, nurses, and sometimes clinical scientists to help determine whether a patient suffers from a genetic disorder, has an inherited predisposition to develop disease later in life, or could pass on a dangerous mutation to their offspring. This aspect of the job involves gathering information about patient and family medical histories, drawing family trees, assessing the pattern of transmission of a mutation or risk of other family members carrying it, selecting and ordering genetic or genomic tests, and evaluating the results.

Just as important as this more technical work is educating patients about their medical conditions and helping them understand the genetic contribution. In cases where genetic tests exist, genetic counselors may guide patients through deciding whether to undergo testing and appreciating the possible implications for themselves and other family members. Genetic counselors may also help patients sort through their treatment or prevention options, such as helping women with family members who have died of breast cancer decide whether to undergo prophylactic mastectomies.

Genetic counselors offer at least part of the psychological support that patients and families need to adjust to their new condition, which often starts with helping them accept the diagnosis itself. “Genetic counseling fundamentally is about helping people to understand what we know from research about the illness that they have or that their family member has,” says NSGC President Jehannine Austin, “and it’s helping them to deal with all of the emotional issues that … relate to explanations for why somebody developed the illness that they did … so that that family can adapt in a more healthy way.”

Genetic counselors—who must guide patient decision-making in keeping with patients’ autonomy, culture, and worldview—also often help patients and families deal with potential moral and ethical issues. A couple could, for example, be faced with the decision of whether to terminate a pregnancy or have a child in the face of uncertain results about the inheritance of a genetic disorder. Often, genetic counselors themselves are confronted with ethical dilemmas, such as whether to disclose to a patient’s family members, who may also be at risk, that she or he has been diagnosed with an inherited disorder if the patient wishes to keep the information confidential. To further complicate matters, these ethical questions exist in a rapidly changing legal and cultural environment.

Finally, genetic counselors also point families toward other resources such as patient support groups or refer them for further psychological support and medical care. “There’s an emphasis on teamwork and liaising with other people to provide the best you can for the patient, and that’s very nurturing,” says Sue Kenwrick, who is now a principal genetic counselor at Addenbrooke’s Hospital in Cambridge, U.K., after leaving a 20-year-long academic career researching single gene disorders. And as the field expands, genetic counselors are “increasingly educating other health professionals about genetics,” adds Kenwrick, who describes the job as “very varied.”

Building on a research degree

Genetic counseling is a small profession today, and having a Ph.D. is even rarer. Only 52 of the 2205 genetic counselors in the United States and Canada who responded to this year’s NSGC Professional Status Survey (out of a total of more than 4000 genetic counselors) have a Ph.D. But many experts, including the authors of the U.S. Bureau of Labor Statistics Occupational Outlook Handbook, see a growing demand for genetic counseling expertise, and Ph.D. training in a relevant field can be a great jumping-off point.

Becoming a genetic counselor in the United States, Canada, and—increasingly—in Europe requires completing a professional master’s degree program. But having a biology Ph.D. under their belt gives aspiring genetic counselors a solid foundation to build upon as they broaden their knowledge of how genetics relate to disease and learn about medicine. Moreover, intimate understanding of the laboratory procedures behind the genetic testing can be a valuable asset, says Austin, who is also an associate professor of medical genetics and psychiatry at the University of British Columbia (UBC), Vancouver, in Canada and a graduate adviser in the UBC genetic counseling master's program. “The lab-based background [that comes with a Ph.D.] equips a genetic counselor to know the strengths and limitations of different types of tests,” she says. “This can be helpful in the context of working with physicians to select appropriate tests, and in the context of helping patients to understand what the particular test results that they received really mean.”

Genetic counseling also requires a life-long learning mindset similar to that of research scientists. In its early days, the profession mainly dealt with disorders caused by a single gene or chromosomal anomaly, but now things are becoming a lot more complex. Genetic counselors are increasingly asking labs to test larger tracks of DNA, such as panels of genes and sometimes the entire expressed genome, to tackle complex diseases whose development may be influenced by many genes and genetic variations. “We’ll be, in the genomic era, increasingly having to look up a lot of information about genetic variants and what they might mean” for a disease, Kenwrick says. Similar to Ph.D. scientists, genetic counselors must keep on top of scientific and technological advances by attending scientific conferences, reading the literature, and taking courses.

And scientists who are interested in genetic counseling don’t need to abandon research completely. In addition to directing patients to studies they might enroll in, many genetic counselors audit their departments to improve clinical practice or write up individual case reports, Kenwrick says. And some counselors do their own research, either by taking some time off from their clinical activities or combining the two. Cordier, for example, who is now a genetic counselor at the medical testing company synlab Suisse in Lausanne, trained and gained experience as a genetic counselor before doing a Ph.D. while continuing his clinical work.

The research that genetic counselors do is almost always geared toward further integrating genetic counseling into the clinic. Cordier, for example, studied the profession's development in France. Austin has been studying the value of genetic counseling for patients with psychiatric disorders, which are complex conditions influenced not only by many genes but also environmental exposure. Other common research areas include gaining biological insight into genetic disorders and their possible treatments and looking into how patients respond to genetic and genomic information to find ways to best deliver counseling services, says Hooker, who, after earning her genetic counseling master’s degree, investigated patient experiences and responses to genetic testing as a postdoc and exome sequencing as associate director of The Johns Hopkins University/National Human Genome Research Institute Genetic Counseling Training Program.

The human factor

But what primarily drives most of the scientists who have moved into genetic counseling is not the research or even the genetics. It is the desire to establish strong connections with patients and help them through difficult times. For Ph.D. scientists, that requires developing some skills that are not typically emphasized in research training.

When communicating with patients, for example, genetic counselors must tailor the science they explain according to what the patient really needs to know and her or his level of understanding. “It’s no good overwhelming [the families] with science,” Kenwrick says. Counselors must be able to turn complex concepts into information that is meaningful to patients and will help them adapt to their situation, Austin explains. The interaction should be a two-way process, with genetic counselors trying above all to uncover and address patients’ needs, she adds.

Scientists also have to learn to handle the emotional range and unpredictability they are likely to encounter in the clinic. “When you meet a patient …, you really don’t know how they are going to be when they walk through the door,” Kenwrick says. “Are they going to be anxious? Are they going to be angry that this is in their family? Are they going to be confused, nervous?” Another challenge is “knowing how to absorb [patients’ emotional responses] and to help them through that,” she adds. “You have to be able to be in the presence of quite a lot of emotional turmoil [and be empathic] without letting it overwhelm you.” Also important is accepting that it is not always within your power to solve the problem. “You have to enjoy the process of helping people who are in a difficult position without always being able to fix everything,” she explains.  

Basic scientists can also be hesitant to act on incomplete or imperfect knowledge, but genetic counselors must often help patients make life decisions amid uncertainty. This uncertainty is all the greater when dealing with complex conditions such as psychiatric disorders, where a lot remains to be understood about the genetic and environmental contributions. But, Austin says, “if we wait until we’ve got all of the tiny details figured out, we’re going to be waiting a really long time, and families are suffering now.”

Austin once had a patient who believed that his schizophrenia came from smoking too much marijuana when he was younger. This conviction made him believe that his condition was entirely his fault and view his medication as pointless. By helping him understand that biological factors were also at play—even without knowing all the underlying mechanistic details—Austin managed to change this perception. “Through genetic counseling I was able to show him, in a way that made personal meaning for him, how genes and environment actually act together,” she recalls. “His reaction was to break down into a puddle of tears and [say] things like, ‘I feel like a weight of guilt has been lifted.’” Within a month of his session with Austin, the young man, who started taking his medication, “was doing way better than he had done in years,” she adds. “It’s those kinds of things that motivate us … and give us the fuel to continue.”

Using their scientific knowledge to help people find how they can best adapt and move forward in their lives, even one small step at a time, is one of the greatest satisfactions of Ph.D. scientists who enter the genetic counseling profession. “If you’re interested in making a bigger difference at the individual level, then genetic counseling can be a really rewarding career,” Austin says. “It can be emotionally challenging work, but when you see the difference that you’re making, it’s addictive.”

Want to learn more? In the next installment, we’ll discuss where the jobs are, getting the necessary training, and figuring out if genetic counseling is right for you.

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