As genetic testing is increasingly used in the clinic to help put a name to the symptoms of a patient or to assess the predisposition of a person to a hereditary disease, genetic counselors have become more common in many parts of the world. Today, the profession is still low, but it is an area of increasing opportunities that may be particularly suitable for Ph.D. scientists who want to work in the clinic and make an immediate difference for patients.
There is no one way that scientists are in transition in genetic counseling. To give some ideas on itineraries that can be successful, we looked into the careers of four scientists who completed both a doctorate and genetic counseling training. They carved their careers in their own, 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 any way they can.
from academia to the clinic
Sue Kenwrick
Courtesy of Sue Kenwrick
Sue Kenwrick spent nearly 20 years as a successful university before considering a move to genetic counseling. An incumbent player at the University of Cambridge in the UK at the time, had sought Kenwrick genes involved in monogenic diseases related to X since his postdoctoral years. But in the early 00s, with the human genome project was recently completed, she saw that the search for individual genes would soon move in large genomic sequencing centers with more power. It also found that the time had come for her to take on new challenges. So she said, "I decided to see if I wanted to change direction in the kind of science I did or change my career."
His first step was a year 1 year in a laboratory developmental biology. "It was a lot of fun and very exciting," she recalls, "but it did not satisfy my need for change." Meanwhile, she found herself more attracted to genetic counseling, a profession that she had realized to attend human genetics conference. "the type of research that I put me in contact with a large number of families with genetic conditions and their clinical geneticists, and I became increasingly interested the impact of monogenic disorders in families, "said Kenwrick. She had always had a natural curiosity about people and the different ways they handle difficult situations, and she liked the idea of expanding his home and apply science knowledge to the clinic.
But, she said, "I did 't sure I would be comfortable in a consulting position one-to-one or may have the required skills. "To begin exploring these questions, she took evening program 2 years in the General Council while continuing to run his laboratory." He 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, "says Kenwrick. She also sought advice from joining the profession of clinical doctors and genetic counselors. "The more I know, the more excited I became about using my genetic knowledge in a different way," she said.
In 03, when the British government has funded a new clinical training program 2 years 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 sought and obtained an internship.
Kenwrick had prepared his way out of academia gradually ceasing to take new students or postdocs, but leaving behind his lab and faculty position for the property has not been easy. "I was not sorry to be leaving the pain of rejection of the grant, but there were tears on the dissolution of my laboratory. Some people thought I was crazy, "recalls Kenwrick. "However, it also felt good to have more than one career in a lifetime and get out of my comfort zone. ... Now I'm really happy to have seen a different side of science. I am always in contact with many of my former colleagues and have almost stopped missing expectations of a sequencing or PCR result. "
After obtaining his Masters in genetic counseling, it has completed alongside his 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 runs the consultancy service in cancer genetics. Much of his job is to counsel patients who are worried that the cancer in their family could be due to an inherited predisposition. "Cancer is very common in the population, so that many people wonder about it ... especially as the story Angelina Jolie hit the press," she said.
hereditary predisposition to cancer may be due to a single genetic modification at high risk, such as a mutation in the BRCA1 or BRCA2 breast cancer genes, but most of the time, disease is the result of multiple genetic variations that add, environmental risk factors, and a large element of luck. Kenwrick assesses the likelihood of a hereditary cause by studying the family tree of genetic and medical history, the interpretation of the existing pathology or genetic relationships from cancer patients in the family, and offering genetic testing if certain genes seem to be the likely culprits. "That's a lot of detective work," says Kenwrick.
In cases where a hereditary risk is identified, it helps patients to make decisions on possible next steps, such as surveillance or prophylactic surgery. It also contributes to the communication within families, for example, discussing with patients the best way they can tell parents, including children, on the conditions and genetic testing. "Telling parents about a genetic condition can be one of the most difficult questions," she said. "It can be very uncomfortable [for patients] to be the messenger. However, it can also be very challenging for them and their parents 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 throughout, said Kenwrick. 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 made that decision about whether to have another pregnancy, whether to have another test of their pregnancy, and all expectations they have to do for the results, "she said. "Sometimes [I would] to deliver the bad news is that another affected pregnancy. But then I could be ... the one to deliver the good news when the pregnancy was healthy, and it's a very privileged position . to be "
A researcher comes full circle
Jehannine Austin
credit: Institute Child and family research
Jehannine Austin own family medical history was the main driver behind her career path. Schizophrenia and bipolar disorder are common in her family, and she began a PhD in neuropsychiatric genetics with the desire to shed light on the reasons. She soon realized that many others want the same answers. "My family asked me questions like," So, is it genetic? "" What does that mean for us? "Austin says." And I find that when my PhD was absolutely great in giving me ... very narrow, deep knowledge, I did not have the scale or the communication skills to be able to explain these complex things in a way that would be useful for my family. "It also increasingly came to feel that, as a laboratory scientist," I made a small contribution to a big-picture difference, and for me as an individual, that was not enough. ... I had to be at the end of people's things. "
Thus, towards the end of his PhD at the University of Wales College of Medicine (now merged with Cardiff University), Austin-who first heard of genetic counseling at a first summer internship research cycle in the United States, went to talk to genetic counselors in the medical genetics department of the university. It also shadow some of their sessions, which "allowed me to consolidate the idea that this was what I wanted to do, "she recalls. With this confirmation, she completed her PhD in 01 and entered the genetic counseling program at the University of British Columbia (UBC) in Vancouver, Canada.
During his training, Austin saw that the services little genetic counseling were delivered to psychiatric patients, which strengthened his determination to "bring genetic counseling in psychiatry," she said. at first, she thought she would do by working directly with patients, but when she graduated, she found that no hire for this kind of work. he 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 may help patients with psychiatric disorders, which like most of the most common diseases are caused by a complex interaction of multiple genes and variants and environmental factors. Until that time, genetic counseling had focused on rare diseases caused by a single genetic defect, and disorders psychiatric not an obvious fit.
Clinical, however, offered him a post genetic counselor Research in Schizophrenia Program at UBC to try to provide such evidence. She agreed, deciding that "OK, so what are the issues that are important obstacles to the realization of this, I'll look for them." She studied the value of genetic counseling for psychiatric disorders since, evidence collection to support his intuition that people are interested in genetic counseling for psychiatric diseases. "We also have evidence that it can really help people," she said, for example, by making patients feel empowered and enabling them to manage their conditions more effectively.
"on the way, I ended up getting the funded applications grant and salary support, and somehow I ended up becoming a teacher," says Austin, who is now an associate professor of medical genetics and psychiatry and a Canada research Chair at UBC. She also founded a clinic in psychiatric genetics pioneer consultation, she runs on top of his academic work full time. In addition to realizing his dream of offering genetic counseling for psychiatric patients, clinical Austin offers a place to train specialized genetic counselors and direct access to patients and their families for their research.
Austin, who is president of the National Society of Genetic Counselors, also seeks to help develop the research branch of the profession by taking only genetic counselors in his research group. "We live in a medical era of evidence based," she said, so for his profession to mature, "it becomes increasingly important for us to do research in the understanding of the effects are provide genetic counseling. "
even though it has no plans for his career to take this route when she decided to pursue genetic counseling," ... become a teacher actually turned out to be ... a very good fit for me, "she said. in addition to giving him a way to combine scientific creativity with his desire to help patients, Austin believes his genetic counseling training helped to succeed in the academia, because it makes him stand out. "people with Ph.Ds, even in human molecular genetics, there are hundreds and hundreds of us," she said. "what makes me different and what makes me attractive to funding agencies ... is that I have this unique part of my training. "
Genomics from multiple angles
Gillian Hooker
Credit: Beth Harris
When genomics is going and how the field can be useful to society are issues that have been on the sleeve Tits Hooker Gillian since she was an undergraduate student in biology. In early Hooker thought could better address these issues in a lab, she enrolled in a PhD program in molecular biology, cellular and development at Yale University in 00. She loved the research environment, but " towards the end of my PhD, "she said," I wanted to find something that felt ... existentially meaningful, something that connected me to the very important, the big questions of life. "She also wanted to be able to help people on a daily basis. Combine these aspirations with some knowledge of genetics and "it is not too difficult to get genetic counseling from there," she said.
But actually made the transition was less simple. it took Hooker "for almost a year ... really in a position where I was ready to apply" to the master genetic counseling programs, she said. While completing her doctorate, she talked to as many advisers genetics and control of program managers as she could, which was "useful for me to understand that I was doing the right thing, to really understand what genetic counseling was," she said. she also volunteers in an outreach clinic run by Yale school of medicine where she helped patients with paperwork. the experience convinced her that she would be comfortable to work in such a framework.
But, she adds, "doing a PhD, I did not abandon the search altogether." So when it came to choose his master's program, Hooker has opted for the training program / Research Institute of Johns Hopkins University National Human Genome Genetic Counseling, which is "very focused on the research," she said. She then has to Georgetown University, where she divided her time between providing clinical genetic counseling for patients and postdoctoral investigation decision of patients and emotional responses to BRCA1 and BRCA2 testing . "Being able to work with families facing their genetic risk of cancer has a deeper meaning for research, and a more nuanced perspective on the key issues of research," she said .
After his postdoc, Hooker became associate director of the same genetic counseling training program she had obtained her degree when, 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 way," she said. She also advised patients who came to the non-network diseases diagnosed after years try to put a name to a mysterious illness, explaining that new technologies such as exome sequencing could help and discuss the hopes and expectations of patients. and she worked with CLINSEQ study investigating the experiences patients who had their exome sequenced and how they responded to receiving genomic information.
His next career move came a few years ago, when, for both family and professional reasons, she decided to move out and take a job in NextGxDx, data science company in Franklin, Tennessee. the company is developing tools to help users navigate genetic testing more than 60,000 currently available and help hospitals and insurers to develop internal policies related to genetic testing. In his current role as Vice President of Clinical Development, the Working Hooker is to study "the genetic testing market and how it changes, and thinking about how we can learn from this information to better integrate genetic testing in the health care system, "she said. it also ensures that the software and its enterprise database grows are intuitive and useful for clinicians. This requires the maintenance of links with the clinical world, she sees as a benefit of employment.
for Hooker, the greatest challenge of working in a field like genetic counseling is to choose where to spend his time. in the US, at least, "there are so many opportunities, so many things you could do," she said. "I would have five parallel lives so that they saw me patients, and one of me could teach and educate, and one of me could do research on genetic counseling. [T] hen on top of it all, I absolutely love what I'm doing now, working in the private sector build on [information technology] tools that will really facilitate access to genetic testing. "
But whatever form its genetic counseling takes practice, Hooker feels she is where she should be. "Working to help families who are struggling with these big issues that get into the foundations of which we as humans really takes some perspective in your life, "she said," and that's what I like genetic counseling. "
Setting standards
Christophe Cordier
courtesy of Christophe Cordier
After obtaining a Masters in genetics Christophe Cordier worked as a clinical research technician in his native France when his boss encouraged him to consider genetic counseling. His job involved collecting data for an epidemiological study on birth defects by reading medical reports and talking to families, Cordier said his boss "felt I had a good relationship with patients and that maybe I could do more "to help.
Thus, in 06, only two years after France officially created the profession and began offering specialized training, Cordier enrolled in the master's program in genetic counseling and predictive medicine in Aix-Marseille University -still the only program of its kind in the country. Cordier was unlikely to know what the profession was all about before taking the training because it was so new in the country, he said, who made the move "a little adventurous." But he found both the program and attractive challenge, and his boss had guaranteed that he can get his job back if technician genetic counseling did not work, so he decided it was a risk take. After getting 2 years later, Cordier has divided his time between helping his boss with clinical studies and provision of genetic counseling, which were still in low demand at the time, the Mulhouse Hospital.
Wishing to spread the word about genetic counseling and to 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 secretary of the organization, he soon realized that there were large differences in the employment status of those working in the field throughout the country. Some were identified as genetic counselors while others were employed as technicians, and wages varied widely. "I thought that doing a PhD thesis on the development of this new profession would help us all to be treated equally," said Cordier. Thus, while continuing to offer genetic counseling to patients with cancer, he undertook a PhD at Strasbourg University Hospitals.
interest Cordier soon expanded to include all of Europe, where there is great variability in the numbers, qualifications, training, and many other aspects of the profession. He joined the European Society of Human Genetics, investigating the roles and status of genetic counselors across the continent professionals. He also worked on the development of common standards, he helped implement through the creation of an accreditation system at European level for newly trained professionals. Cordier believes that today's genetic counselors community in Europe is too small to pressure decision makers ensuring truly equal professional status, even within a single country, but, he says, "we try to advance things. "
After obtaining his doctorate, Cordier decided to take a job as a genetic counselor to society of medical tests in Switzerland in Lausanne because of greater resources, autonomy and job satisfaction it offered. In his previous position, it could take over a year for patients to get their first appointment and get results. Now, he said, it can take customers through the whole process in less than a month. it also has direct access to the head of the testing laboratory, with whom he discusses every clinical case before delivering results and advise clients on the next steps. Cordier also contributes to the company's marketing efforts, sometimes visiting doctors to introduce the laboratory and testing services.
Being a true discussion partner for patients, interacting with their families, giving them answers, and work in a profession that is both rare and varied are all aspects of the work that Cordier is motivating. But, he notes, the work, which often involves "tell [families] a lot of bad news," are not for everyone. Its strategy to relieve pressure and keep things in perspective includes ensuring spending time with his family when he joined them in France for the weekend. This work can be emotionally, he said, "but when I go back to my family, because I have my three children and a wife, I managed to put this [more challenging aspect] on the side "and to achieve a satisfactory work-life balance.
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