In September of this year, genetic counselors from all over the United States descended on Columbus for the annual meeting of NSGC, the National Society of Genetic Counselors. One of the major outcomes of that meeting was the announcement that November 9th (today) would be Genetic Counselor Awareness Day.
I’m not a genetic counselor, nor do I claim to be an expert in their profession. However, in the year since I joined Nationwide Children’s Hospital and The Ohio State University, I’ve gotten to know quite a few of them. Too, I have an increasing appreciation for their vital roles in genetic research, laboratory testing, and clinical care.
I’ve written in the past about the fact that, once NGS technologies became widely available to the research community, samples were the new commodity. In particular, we as researchers are expected to obtain large cohorts of well-phenotyped samples that have research value. A critical aspect of the cohort assembly is the informed consent that patients and/or their families must sign to participate in research. These documents are increasingly nuanced and complex with regard to the scope of use, privacy protections, and how data may be used or shared.
Like most legal documents, consents are complicated and somewhat-frightening to the average person. Most of the time, the time-consuming work of explaining and obtaining informed consent is done by a genetic counselor. Without consents, we have no usable samples, and without usable samples, we have no research study. It’s that simple.
Our institution and many others like it also have laboratory genetic counselors who assist clinicians in ordering laboratory tests for the patients under their care. This is a challenging role to play, as the adoption and evolution of genetic testing often far outstrips the ability of clinicians to understand:
- The tests that are available, and what they involve
- Which tests are most appropriate for most patients
- The expectations and results for genetic tests
Lab GCs, according to what I understand, are the crucial layer between the clinical laboratory and the ordering physician. This role requires both extensive knowledge about genetics and laboratory testing, as well as basic communication/people skills. Those things don’t always segregate together in humans, as you probably know.
Patient Care and Advocacy
Genetic counselors are often involved in patient care, and here is where their diverse skill set is especially valuable. Genetic information is increasingly part of patient care in the Western world. It’s also a powerful tool, often allowing for rapid diagnosis of conditions that may not always be clinically obvious.
And yet, as much as it excites us, human genetics can be frightening to the average person. Daunting. Difficult to understand. There is also the quite real possibility of (for lack of a better term) genetic malpractice: inappropriate test orders, incorrect interpretation of results, unauthorized or unwanted use of samples for research purposes. As the bridge between patient families and laboratories/researchers, genetic counselors not only participate in patient care, but serve as their advocates when necessary. In other words, they take responsibility for protecting the patients privacy and well-being. And that may be the most important role of all.
Thank you, genetic counselors. We appreciate you!