From genomic-directed clinical trials and gene editing to personalized medicine and more, recent innovations in science and medicine are helping patients live longer, healthier and fuller lives. "Careers of the Future", a BWH blog series, explores the experts behind these medical advances, and how their roles in healthcare are pushing thier fields forward in service to patients.
Genetic Counselors: Making results meaningful to clinicians, patients and study participants
In the past decade, the number of certified genetic counselors in the U.S. rose by 88 percent, according to a 2016 National Society of Genetic Counselors (NSGC) Professional Status Survey. That number is likely to keep rising, with the U.S. Bureau of Labor Statistics projecting a growth rate of 29 percent for genetic counseling positions from 2014 to 2024.
Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. It is a unique blend of care coordination, interpretation and, of course, counseling. Genetic counselors are trained to take complex genetic information and explain it in ways patients, providers and consumers can understand. The field has been around since the early 1970s, when genetic counselors first began working alongside clinical geneticists, primarily seeing families of patients with pediatric disorders.
“I chose to become a genetic counselor because it combines my love for genetics with the ability to work with and help people. I also hope our research will impact U.S. health care policy in the future,” said Carrie Blout, MS, CGC, a senior genetic counselor and project manager for Genomes2People (G2P) at BWH. G2P is a translational research program led by medical geneticist and physician-scientist Robert Green, MD, MPH, that integrates genomic research and sequencing into clinical practice.
Today, the clinical specialty areas in which genetic counselors practice have expanded to include prenatal settings, oncology, cardiology, neurology, ophthalmology, metabolic disease and others. Blout says that genetic counseling in a clinical setting involves collecting extensive family and medical histories, analyzing inheritance patterns and explaining genetic testing options and test results in the context of a patient’s medical and family history, as well as providing support and advocating for patients.
Genetic counselors also have the option to explore the field’s unanswered questions as research genetic counselors, project managers and research coordinators. Some work in clinical academic laboratories while others work in industry settings including diagnostic laboratories, biotech or pharma companies. Others work in education or marketing roles to disseminate information about genetics to a variety of patient, provider, media, student and consumer audiences.
At BWH, genetic counselors on the G2P team are working to explore the medical, behavioral and economic implications of genomic sequencing. They are also seeking to better understand Alzheimer’s disease and its implications. Other counselors at BWH see adult patients in a variety of specialty clinics, including cardiology, endocrinology, pulmonology and prenatal settings.
No matter the area, genetic counselor and G2P team member Sheila Sutti, MS, CGC, says that clear communication still remains at the heart of the profession.
“We need to help patients understand the risks and benefits of the information we are providing them, some of which is extremely delicate,” said Sutti, the G2P project manager of REVEAL-SCAN: Risk Evaluation and Education of Alzheimer’s Disease: The Study of Communicating Amyloid Neuroimaging. “It is our responsibility to safely communicate these results because once people learn certain information, they can’t unlearn it.”
Blout says that she and her colleagues make sure patients understand what the presence of a genetic variant means in the context of their own history.
“We’re looking at family history and medical information combined to make the results meaningful for the patient,” she said. “In some cases, we explain that just because he or she has a genetic variant doesn’t mean they will develop a disorder.”
Genetic counselors also see patients who do not yet have an established diagnosis and have sometimes undergone years of testing and consults to try to find an answer to their diagnostic odyssey. At BWH, genetic counselors try to help these patients discover the cause of their medical condition not only in the clinic, but also in their research roles as part of Harvard’s Undiagnosed Diseases Network, which is funded by the National Institutes of Health.
Additionally, healthy people’s interest in undergoing genome sequencing is growing. As part of G2P’s MedSeq Project, a randomized clinical trial of whole genome sequencing, Blout and Green enroll seemingly healthy individuals, as well as those with a diagnosis of cardiomyopathy.
In BWH’s Adult Genetics Clinic, Sutti and Green evaluate and counsel a unique cohort of self-referred healthy individuals without any clinical indication of disease. These individuals are interested in obtaining whole genome sequencing to find out conditions to which they may be predisposed.
“Genomic sequencing is a new frontier being explored now,” said Blout. “Some patients come in with no real indications, and others have a family history that might predispose them to have a genetic condition even if they don’t have symptoms. Sequencing in healthy individuals is still a very new field.”
Blout says she hopes the role of genetic counselors will continue to expand into all aspects of medicine. She also hopes, and expects, that research and industry opportunities will continue to grow.
“Exploring these topics on the cutting edge is so rewarding, though a lot of what we do is a bit controversial, even in the genetics world,” Blout said. “We’re sequencing healthy babies and adults and providing Alzheimer’s information to patients at risk, but we’re doing it in careful and meaningful ways to explore the true impact of providing this information and how it affects patients, their families and the larger health care system.”
See original article here.