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Blazing paths in genetic counseling

As genetic analysis is increasingly used in the clinic to help put a name to a patient’s symptoms or evaluate someone’s predisposition to an inherited disease, genetic counselors have become more common in many parts of the world. Today, the profession remains small, but it is a growing area of opportunity that may be particularly suited to Ph.D. scientists who want to work in the clinic and make an immediate difference for patients

There’s no single way that scientists are transitioning into genetic counseling. To offer some ideas about routes that can be successful, we have peered into the careers of four scientists who have completed both a Ph.D. and genetic counseling training. They have carved their career paths in their own ways, often exploring different aspects of genetic counseling as they go, but what they all have in common is a strong desire to broaden the impact of their scientific training and help patients in any way they can.

From academia to the clinic

Sue Kenwrick

Sue Kenwrick

Courtesy of Sue Kenwrick

Sue Kenwrick spent nearly 20 years as a successful academic before contemplating a move into genetic counseling. A tenured reader at the University of Cambridge in the United Kingdom at the time, Kenwrick had been looking for genes involved in X-linked monogenic diseases since her postdoctoral years. But in the early 2000s, with the Human Genome Project recently completed, she saw that the search for individual genes would soon be moving to big genomic centers with more sequencing power. She also felt that the time had come for her to take on new challenges. So, she says, “I decided to look at whether I wanted to change direction in the type of science I did or change my career.” 

Her first step was a 1-year sabbatical in a developmental biology lab. “That was a lot of fun, and very stimulating,” she recalls, “but it did not satisfy my need for change.” Meanwhile, she found herself becoming attracted to genetic counseling, a profession she had become aware of from attending human genetics conferences. “The type of research I did brought me into contact with a lot of families with genetic conditions and their clinical geneticists, and I became increasingly interested in the impact of the monogenic disorders in families,” Kenwrick says. She had always felt a natural curiosity toward people and the different ways they handle challenging situations, and she liked the idea of broadening her focus and applying her scientific knowledge to the clinic.

But, she says, “I wasn’t sure I would be comfortable in a one-to-one counseling situation or could have the skills required.” To begin exploring those questions, she took a 2-year evening program in general counseling while continuing to run her lab. “It gave me a lot of insight into what it means to hear about people’s problems and what that does to your own reactions and emotions,” Kenwrick says. She also sought advice about joining the profession from clinical doctors and genetic counselors. “The more I knew, the more excited I became about using my genetic knowledge in a different way,” she says. 

So, in 2003, when the U.K. government funded a new 2-year clinical training program in genetic counseling following a white paper on realizing the potential of genetics in the National Health Service, Kenwrick was ready to go for it. She applied and got one of the traineeships. 

Kenwrick had prepared her way out of academia by gradually ceasing to take on new students or postdocs, but leaving behind her lab and a faculty position for good was not easy. “I wasn’t sorry to be leaving the pain of a grant rejection, but there were tears on dissolving my lab. Some people thought I was mad,” Kenwrick recalls. “However, it also felt healthy to have more than one career in a lifetime and go out of my comfort zone. … Now I’m really glad to have seen a different side of science. I’m still in touch with many of my previous colleagues and have just about stopped missing the anticipation of a sequencing or PCR result.”

Upon graduating with her master’s in genetic counseling, which she completed alongside her clinical training, Kenwrick took a position as a genetic counselor with the East Anglian Clinical Genetics Service at Addenbrooke’s Hospital in Cambridge, where she now leads the cancer genetics counseling service. Much of her work involves counseling patients who are worried that cancer in their family could be due to an inherited predisposition. “Cancer is extremely common in the population, so a lot of people are asking about this, … particularly since the Angelina Jolie story hit the press,” she says.

Hereditary predisposition to cancer is sometimes due to a single high-risk genetic change, like a mutation in the BRCA1 or BRCA2 genes for breast cancer, but most of the time, the disease is the result of multiple gene variants that add up, environmental risk factors, and a big element of chance. Kenwrick assesses the likelihood of an inherited cause by studying the family’s genetic tree and medical history, interpreting existing pathology or genetic reports from cancer patients in the family, and offering genetic tests if particular genes seem to be the likely culprits. “That’s a lot of detective work,” Kenwrick says.

In cases when a hereditary risk is identified, she helps patients make decisions about possible next steps, such as surveillance or prophylactic surgery. She also helps with communication within families, for example, by discussing with patients the best way they can tell relatives, including children, about genetic conditions and testing. “Telling relatives about a genetic condition can be one of the most difficult issues,” she says. “It can be very uncomfortable [for patients] to be the messenger. However, it can also be very empowering for them and their relatives to have an explanation for why people have been affected by a condition and to be able to develop a plan for themselves to manage risks.”

One of the greatest satisfactions of the job is being able to follow clinical cases all the way through, Kenwrick says. She remembers accompanying a couple who had repeated pregnancies affected by Duchenne muscular dystrophy through prenatal diagnosis. “I could be there for them when they were making that decision about whether to have another pregnancy, whether to have another test in their pregnancy, and all the waiting they have to do for the results,” she says. “Sometimes, [I would] be delivering the bad news that it’s another affected pregnancy. But then I could also be … the one to deliver the good news when the pregnancy was healthy, and it’s a very privileged position to be in.”

A researcher comes full circle

Jehannine Austin

Jehannine Austin

Credit: Child and Family Research Institute

Jehannine Austin’s own family medical history was the primary driver behind her career trajectory. Schizophrenia and bipolar disorders are common in her family, and she embarked on a Ph.D. in neuropsychiatric genetics with a desire to shed light on why. She soon realized that many others wanted the same answers. “My family were asking me questions like, ‘So, is it genetic?’ ‘What does that mean for us?’” Austin recalls. “And I found that, while my Ph.D. was absolutely brilliant in giving me very … narrow, deep knowledge, I didn’t have the breadth or the communication skills to be able to explain such complex things in a way that would be useful for my family.” She also increasingly came to feel that, as a lab scientist, “I was making a small contribution to a big-picture difference, and for me as an individual, that was not enough. … I needed to be at the people end of things.”

So, toward the end of her Ph.D. at the University of Wales College of Medicine (now merged with Cardiff University), Austin—who first heard about genetic counseling during an undergraduate summer research internship in the United States—went to speak to genetic counselors in the university’s medical genetics department. She also shadowed a few of their sessions, which “allowed me to consolidate this idea that this was what I wanted to do,” she recalls. With this confirmation, she finished her Ph.D. in 2001 and entered the Genetic Counseling Program at the University of British Columbia (UBC), Vancouver, in Canada.

During her training, Austin saw that hardly any genetic counseling services were being delivered to psychiatric patients, which strengthened her determination to “bring genetic counseling to psychiatry,” she says. Initially, she thought she would do so by working directly with patients, but when she graduated, she found that nobody would hire her for this type of job. She was told that there was no evidence that psychiatric patients and their families would be interested in receiving genetic counseling. And even if such a demand existed, there was no evidence that genetic counseling could help patients with psychiatric disorders, which—like most of the more common diseases—are caused by a complex interplay of multiple genes and variants as well as environmental factors. Up to that time, genetic counseling had mainly focused on rare diseases caused by a single genetic fault, and psychiatric disorders were not an obvious fit.

One clinic, however, offered her a research genetic counselor position within the Schizophrenia Program at UBC to try to provide such evidence. She accepted, deciding that, “OK, if those are the questions that are important barriers to making this happen, I’m going to research them.” She has been investigating the value of genetic counseling for psychiatric disorders ever since, gathering evidence supporting her hunch that people are interested in genetic counseling for psychiatric illness. “We also have evidence that it can really help people,” she says, for example, by making patients feel empowered and enabling them to manage their conditions more effectively.

“Along the way, I ended up getting grant applications funded and salary support, and somehow I ended up becoming a professor,” says Austin, who is now an associate professor of medical genetics and psychiatry and a Canada Research Chair at UBC. She also founded a pioneering psychiatric genetic counseling clinic, which she directs on top of her full-time academic job. In addition to fulfilling her dream of delivering genetic counseling services to psychiatric patients, the clinic provides Austin a venue to train specialist genetic counselors and directly access patients and their families for her research.

Austin, who is president of the National Society of Genetic Counselors, is also trying to help develop the research arm of the profession by taking only genetic counselors in her research group. “We live in an era of evidence-based medicine,” she says, so for her profession to mature, “it’s becoming increasingly important for us to be doing research into understanding what the effects are of providing genetic counseling.”

Though she didn’t plan for her career to take this route when she decided to pursue genetic counseling, “becoming a professor … actually turned out to be a very … good fit for me,” she says. In addition to giving her a way to combine scientific creativity with her desire to help patients, Austin believes that her genetic counseling training has helped her succeed in academia because it makes her stand out. “People with Ph.D.s, even in human molecular genetics, there’s hundreds and hundreds of us,” she says. “What makes me different and what makes me attractive to funding agencies … is that I have this unique element to my training.”

Genomics from multiple angles

Gillian Hooker

Gillian Hooker

Credit: Beth Harris

Where genomics is going and how the field can be useful to society are questions that have been tugging on Gillian Hooker’s sleeve since she was an undergraduate biology student. At first Hooker thought these questions could best be answered in a lab, so she enrolled in a Ph.D. program in molecular, cellular, and developmental biology at Yale University in 2000. She liked the research environment, but “toward the end of my Ph.D.,” she says, “I wanted to find something that felt … existentially meaningful, something that connected me to the really important, big issues in life.” She also wanted to be able to help people on a day-to-day basis. Combine these aspirations with some genetics knowledge and “it’s not too hard to arrive at genetic counseling from there,” she says.

But actually making the transition was less straightforward. It took Hooker “almost a year … to really get into a position where I was ready to apply” for genetic counseling master’s programs, she says. While completing her Ph.D., she talked to as many genetic counselors and master’s program directors as she could, which was “helpful for me to understand that I was making the right decision, to understand really what genetic counseling was,” she says. She also volunteered in an outreach clinic run by Yale’s medical school where she helped patients with paperwork. The experience convinced her that she would be comfortable working in such a setting.

But, she adds, “having done a Ph.D., I didn’t want to abandon research altogether.” So, when it came to choosing her master’s program, Hooker opted for The Johns Hopkins University/National Human Genome Research Institute Genetic Counseling Training Program, which is “very research-oriented,” she says. She then went on to Georgetown University, where she split her time between delivering clinical genetic counseling services to patients and conducting postdoctoral research investigating patient decision-making and emotional responses to BRCA1 and BRCA2 testing. “Being able to work with families facing their genetic risk of cancer brought a deeper meaning to the research, and a more nuanced perspective on key research questions,” she says.

After her postdoc, Hooker become the associate director of the same genetic counseling training program that she had graduated from, where, in addition to training students, she also conducted research. “It was very meaningful to be able to return to a place that had been so transformative for me in my own path,” she says. She also counseled patients who had come to the Undiagnosed Diseases Network after years of trying to put a name on a mysterious sickness, explaining whether new technologies like exome sequencing might help and discussing patients’ hopes and expectations. And she worked with the CLINSEQ Study, investigating the experiences of patients who were having their exome sequenced and how they responded to receiving genomic information.

Her next career move came a couple of years ago, when, for both family and professional reasons, she decided to relocate and take a job at NextGxDx, a data science company in Franklin, Tennessee. The company is developing tools to help users navigate the more than 60,000 genetic tests currently available and help hospitals and insurers design internal policies related to genetic testing. In her current role as vice president of clinical development, Hooker’s job involves studying “the genetic testing market and how it changes, and thinking about ways that we can learn from that information to better integrate genetic testing into the health care system,” she says. She also makes sure that the software and databases her company develops are intuitive and useful for clinicians. Doing so requires maintaining ties to the clinical world, which she sees as a perk of the job. 

For Hooker, the greatest challenge in working in a field like genetic counseling is choosing where to spend her time. In the United States, at least, “there is so much opportunity, so many things you could do,” she says. “I wish I had five parallel lives so that one of me could see patients, and one of me could teach and educate, and one of me could do research about genetic counseling. [T]hen on top of all that, I absolutely love what I’m doing right now, working in the private sector building out [information technology] tools that really will make it easier to access genetic tests.”

But whatever form her genetic counseling practice takes, Hooker feels she’s where she needs to be. “Working to help families that are grappling with these really big issues that get down to the fundamentals of who we are as human beings really keeps some perspective in your life,” she says, “and that’s what I love about genetic counseling.”

Setting the standards

Christophe Cordier

Christophe Cordier

Courtesy of Christophe Cordier

After earning a master’s degree in genetics, Christophe Cordier was working as a clinical research technician in his native France when his boss encouraged him to consider genetic counseling. His work involved gathering data for an epidemiological study about congenital malformations by reading medical reports and talking to families and, Cordier says, his boss “felt that I had a good relationship with patients and that maybe I could do more” to help them.

So, in 2006, just a couple of years after France officially created the profession and started offering specialized training, Cordier enrolled in the master's program in genetic counseling and predictive medicine at Aix-Marseille University—still the only program of its kind in the country. Cordier had little opportunity to find out what the profession was all about before embarking on the training because it was so new in the country, he says, which made the move “a bit adventurous.” But he found both the curriculum and the challenge attractive, and his boss had guaranteed that he could get his technician job back if genetic counseling didn’t work out, so he decided it was a risk worth taking. Upon graduating 2 years later, Cordier split his time between helping his boss with clinical studies and delivering genetic counseling services, which were still in low demand at the time, at the Hospital of Mulhouse.

Wishing to spread the word about genetic counseling and share his enthusiasm about his work with others, in 2010 Cordier decided to volunteer with the French Association of Genetic Counselors to help establish the profession in the country. While keeping the member database as the organization’s secretary, he soon realized that there were large discrepancies in the professional statuses of those working in the field around the country. Some were recognized as genetic counselors while others were employed as technicians, and salaries varied widely. “I told myself that doing a Ph.D. thesis on the establishment of this new profession would allow all of us to be treated equally,” Cordier says. So, while continuing to deliver genetic counseling to cancer patients, he embarked on a Ph.D. at the Strasbourg University Hospitals.

Cordier’s interest soon expanded to include the whole of Europe, where there is great variability in numbers, titles, training, and many other aspects of the profession. He joined the European Society of Human Genetics, investigating the professional roles and statuses of genetic counselors across the continent. He also worked on developing common standards, which he helped implement through the creation of a Europe-wide accreditation system for newly trained professionals. Cordier believes that today’s community of genetic counselors in Europe is too small to pressure policymakers into guaranteeing true equality of professional status even within a single country, but, he says, “we are trying to make things move forward.”

After earning his Ph.D., Cordier decided to take a job as a genetic counselor at the medical testing company synlab Suisse in Lausanne because of the greater resources, autonomy, and professional satisfaction it offered. In his previous position, it could take more than a year for patients to secure their first appointment and get their results. Now, he says, he can take clients through the entire process in less than a month. He also has direct access to the head of the testing laboratory, with whom he discusses each clinical case before delivering the results and advising clients on their next steps. Cordier also contributes to the company’s marketing efforts, sometimes visiting doctors to introduce the laboratory and its testing services.

Being a true discussion partner for patients, interacting with their families, giving them answers, and working in a profession that is both rare and varied are all aspects of the job that Cordier finds motivating. But, he notes, the job, which often involves “telling [families] a lot of bad news,” isn’t for everyone. His strategy for relieving the pressure and keeping things in perspective includes making sure to spend quality time with his loved ones when he joins them in France for the weekends. This job can be emotionally taxing, he says, “but when I go back to my family, given that I myself have three children and a wife, I manage to put that [more challenging aspect] on the side” and achieve a satisfying work-life balance.