Of all the families Christophe Cordier helped, it is one he will never forget. In 2012, Cordier, a genetic counselor of the Hôpitaux Universitaires de Strasbourg in France at the time, was asked to tell a young couple that their daughter rare tumor had been diagnosed with was due to a mutation that ran in the family. The mutation allowed bearers- children and young adults, in particular, a greater risk of developing several types of cancers. Furthermore, genetic testing revealed that the mutation was on the side of the father and one of the other two children the couple had also inherited. The sister of the father too, as her two children. In the next 6 months, two children with the couple and the father's sister all died of cancer.
Being faced with such a family suffering "very difficult" to take in emotionally, said Cordier. "This work is not for everyone," he added.
But Cordier was also able to refer the family to other professionals for psychological support and to enroll them in a clinical trial on a method to improve the early detection of cancer in these patients. He also worked with the couple as they decided whether to have another child and if to go through IVF to reduce the risk of transmission the mutation. Being close to patients and their families is one of the most rewarding aspects of the job, he said. "patients trust in me with regard to both their personal and family medical history, but they also come to me with their everyday concerns, doubts about the disease, worry for their children, and feelings of guilt. "
often difficult clinical situations Handling, explaining the role of genetics in disease, and guide families as they adjust to their new reality are the cornerstones of the work of a genetic counselor. And for people trained as researchers, as Cordier, want to "be able to give patients a response to their disease, their suffering and their desires," genetic counseling can offer a unique rewarding career in genetics interface medicine, psychology, education, research and consulting.
Helping patients make sense of genetics
As is known more and more about how genes cause or disease influence and advanced technologies peer ever deeper into our DNA, genetic analysis has become increasingly integrated into clinical practice. In addition to helping doctors make diagnoses and treatment decisions, genetic progress has put patients in a more proactive role regarding the discovery, management and prevention of hereditary disorders. This, combined with a new diagnosis, can generate a lot of distress that few patients are equipped to handle.
Genetic counseling is born from the need and desire to help patients "understand and adapt to the medical, psychological and familial implications of genetic contributions to disease," according to the US National Society of Genetic Counselors (SNJG). as Dr. Hooker, who worked as a genetic counselor after completing a doctorate in molecular, cellular and developmental biology, explains the work, "much is to help [patients and their families] incorporate this information into their lives , cope when things are very difficult ... to find ways to make sense of what is happening to them, and move forward. "
genetic counselors usually work in a clinic in multidisciplinary teams of physicians, nurses, and sometimes clinical scientists to help determine if a patient has a genetic disease, an inherited predisposition to developing the disease later in life, or could pass on a dangerous mutation to their offspring. This aspect of the job is to collect patient information and medical history of the family, drawing family trees, evaluate the transmission mode of transfer or risk to other family members with him, selection and control genetic and genomic testing, and evaluation of results.
Just as important as the more technical work is to educate patients about their health and help them understand the genetic contribution. In cases where genetic tests exist, genetic counselors can guide patients through deciding to undergo tests and assess the possible implications for themselves and other family members. Genetic counselors can also help patients sort their treatment or prevention options, such as helping women with family members who are breast cancer deaths deciding to undergo prophylactic mastectomy.
Genetic counselors provide at least part of the psychological support that patients and families must adjust to their new condition, which often begins with them to accept the diagnosis himself. "Genetic counseling is basically to help people understand what we know from research about the disease they or their family member," said President NSGC Jehannine Austin, "and help to deal with all the emotional issues that relate to ... explain why someone has developed the disease they did ... for this family can adapt to a healthier way. "
genetic counselors, who must guide the patient's decision-making in respect of the autonomy, culture patient and vision of the world as often help patients and families cope with moral issues and potential ethical. a couple could, for example, be faced with the decision to terminate a pregnancy or have a baby face uncertain outcomes on the inheritance of a genetic disease. Often, genetic counselors themselves are faced with ethical dilemmas, such as whether to disclose to family members of a patient who may be at risk, he or she has been diagnosed with a hereditary disorder if the patient wishes to keep the information confidential. To complicate matters, these ethical issues exist in a legal and cultural environment of rapid change.
Finally, genetic counselors also point families to other resources such as support groups for patients and refer them for more psychological support and medical care. "There is an emphasis on team work and liaise with others to provide the best for the patient, which is very exciting," says Sue Kenwrick, now a senior genetic counselor at Addenbrooke hospital in Cambridge, UK, after leaving a 20 year-long academic career researching monogenic diseases. And as the field develops, genetic counselors are "more educate other health professionals about genetics," says Kenwrick, which describes the work as "very varied."
Building on a research degree
Genetic counseling is a small profession today, and having a PhD is even rarer. Only 52 of the 2,205 genetic counselors in the United States and Canada that responded to the survey Status Professional NSGC this year (out of more than 4,000 genetic counselors) have a doctorate But many experts, including the authors of US Bureau of Labor Statistics occupational Outlook Handbook see a growing demand for expertise in genetic counseling, and PhD training in a relevant field can be a great starting point.
Become a genetic counselor in the US, Canada, and increasingly, in Europe requires the completion of the professional master's degree program. But having a doctorate in biology under their belt genetic counselors give budding a solid base to take advantage as they expand their knowledge on how genetics related to the disease and learn about medicine. In addition, the intimate understanding of laboratory procedures behind the genetic test can be a valuable asset, says Austin, who is also associate professor of medical genetics and psychiatry at the University of British Columbia (UBC) in Vancouver Canada and an advisor to graduate in the UBC program master genetic counseling. "The background based laboratory [that comes with a Ph.D.] team genetic counselor to know the strengths and limitations of different types of tests," she said. "This can be useful in the context of working with physicians to select appropriate tests, and in the context of helping patients understand what the results of the particular test they were really mean."
Genetic counseling also demands a life -long similar mindset to that of learning researchers. In its early days, the profession has mainly treated disorders caused by a single gene or chromosomal abnormality, but now things are becoming much more complex. Genetic counselors are increasingly asking laboratories to test large tracks of DNA, such as panels of genes, and sometimes the entire genome expressed to fight against complex diseases whose development can be influenced by many genes and genetic variations. "We are in the era of genomics, with increasingly watching a lot of information on genetic variants and what they can mean" to illness, said Kenwrick. Similar to the Ph.D. scientists, genetic counselors must keep abreast of scientific and technological progress by attending scientific conferences, reading of literature, and to take classes.
and scientists who are interested in the board genetics are not completely abandon the search. in addition to direct patients to the studies they could enroll in, many genetic counselors check their departments to improve clinical practice or submit individual case reports, said Kenwrick. and some counselors do their own research, or taking some time out of their clinical activities or a combination of both. Cordier, for example, which is now a genetic counselor to society of medical tests in Switzerland in Lausanne, trained and acquired experience as genetic counselor before doing a doctorate while continuing his clinical work.
The research genetic counselors are almost always geared towards further integration of genetic counseling in the clinic. Cordier, for example, studied the development of the profession in France. Austin studied the value of genetic counseling for patients with psychiatric disorders, which are complex conditions influenced not only by many genes, but environmental exposure. Other research areas include obtaining a biological insight into genetic disorders and their treatment options and research on how patients respond to genetic information and genomics to find ways to provide better counseling said Hooker, who, after graduating from genetic counseling teacher, a patient survey experiences and responses to genetic testing such as sequencing of postdoc and exome as associate director of the training program / research Institute Johns Hopkins University National Human Genome genetic counseling.
The human factor
Yet what drives most scientists who have moved to genetic counseling is not research or even genetics. It is the desire to establish strong relationships with patients and help them through difficult times. For Ph.D. scientists, which requires the development of certain skills that are not usually emphasized in the training of research.
When communicating with patients, for example, genetic counselors must adapt science to explain them according to what the patient really needs to know and his or her level of understanding. "There is no good overwhelming [the families] with science," says Kenwrick. Counselors must be able to transform complex concepts in information that are meaningful to patients and help them adjust to their situation, Austin says. the interaction must be a two-way process, with genetic counselors mostly trying to discover and it adds patients' skill needs.
scientists are also learning to manage emotional range and unpredictability they may encounter in the clinic. "when you meet a patient ... you really do not know how they will be when they walk through the door," said Kenwrick. "Will they be worried? Will they be angry either in their families? Will they be confused, nervous?" Another challenge is "how to absorb [patients’ emotional responses] and to help them through this" she added. "you must be able to be in the presence of a large number of emotional disturbances [and be empathic] without overwhelmed you." It is also important to accept that it is not always your power to solve the problem. "you have to enjoy the process of helping people who are in a difficult situation, but always able to arrange everything," she explains.
basic science may also be reluctant to act on incomplete or imperfect knowledge, genetic counselors often help patients make lifestyle decisions under uncertainty. This uncertainty is especially when dealing with complex conditions such as psychiatric disorders, where much remains to be understood about the genetic and environmental contributions. But Austin said, "if we wait until we have all the little understood, we will wait a very long time, and families are suffering now."
Austin once had a patient who believed that his schizophrenia came too smoked marijuana when he was younger. This conviction led him to believe that his condition was entirely his fault and see his medication as unnecessary. Helping to understand the biological factors were also in play, even without knowing all the details underlying mechanistic-Austin has managed to change that perception. "Through genetic counseling, I could show him, in a way that has personal meaning for him, how genes and the environment work together effectively," she recalls. "His reaction was to break down into a puddle of tears [say] things like, "I feel like a guilty weight was lifted. "Within a month of its meeting with Austin, the young man who began taking his medications," did much better than he had done over the years, "she adds. "These are the kinds of things that motivate us ... and give us the fuel to continue."
Using their scientific knowledge to help people find out 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 entering the genetic counseling profession. "If you are interested in making a greater difference at the individual level, and genetic counseling can be a very rewarding career," says Austin. "It can be an emotionally difficult job, but when you see the difference you make it is addictive. "
want to know more? in the next installment we will discuss where the jobs are, get the necessary training, and determine if genetic counseling is right for you.
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