What is a Genetic Counselor?

It happened again today, as it often does. I was wrapping up with a patient and she said, “I am always fascinated by the jobs people have. How did you end up being a genetic counselor?”

This is a familiar conversation for any genetic counselor. We all have a response that has been crafted over years of answering a seemingly simple question. Many of us probably give an explanation of our daily life that involves gathering histories, drawing pedigrees, explaining testing options and reviewing results. We may talk about education or advocating for our patients, but in such a brief interaction, it can be hard to encapsulate all that is involved in genetic counseling.

I have a similar story to the one that I have heard from other genetic counselors. I was interested in science and biology. After taking several genetics courses in college, I wondered what type of career I could pursue. I volunteered in a laboratory, but that experience didn’t have the patient interaction that I was looking for. I wanted something that could merge patient care with the science I found to be so fascinating. Genetic counseling was the perfect fit.

According to the National Society of Counselors (NSGC), genetic counselors provide risk assessment, education and support to individuals and families at risk for, or diagnosed with, a variety of inherited conditions. We interpret genetic testing, provide supportive counseling, and serve as patient advocates.


Genetic counselors: Where are we from and where are we going

Schooling for Genetic Counseling

As described on the NSGC website, becoming a genetic counselor requires completion of a master’s degree at an accredited genetic counseling program. These programs include rigorous coursework, research, and clinical training. After graduating, individuals must pass a board examination to become certified to practice. Some states require genetic counselors to have a professional license.

Traditionally, genetic counselors worked in a clinical practice within pediatrics under the supervision of physician medical geneticists. As new prenatal tests became available in the 1970’s, genetic counseling expanded into the reproductive area. The next big expansion occurred in the 1990s with cancer genetic counseling, which coincided with the identification of cancer susceptibility genes

Just 10 years ago, I was deciding which clinical area was the best fit for me. At that time, I had completed graduate school rotations in pediatric, prenatal, and cancer genetics. Early in my career, I hadn’t considered some of the non-traditional roles that a genetic counselor could pursue.

Since that time, the field of genetic counseling has exploded. There seem to be endless career opportunities that utilize the unique set of skills of genetic counselors. Many genetic counselors still work in the traditional clinical setting, but some are choosing to work in pediatric or adult sub-specialties such as cardiology or neurology. Other genetic counselors have branched into nonclinical areas such as administration, public health, education, academic laboratories and industry (Baty, 2018).

One extremely valuable area for genetic counselors is in utilization management. Utilization management programs have been implemented in hospital send-out laboratories as well as in referral and diagnostic laboratories to ensure appropriate genetic testing (Wakefield et al., 2018).

A recent study by Wakefield et al. (2018) aimed to evaluate the impact of genetic counselors reviewing incoming test orders. During the six-month study, a genetic counseling team reviewed 2,367 incoming test orders. Of these, 109 orders (4.6%) were flagged for review for potentially inefficient or inappropriate test orders. These flagged orders corresponded to a total of 51 cases. The genetic counselor team proposed a change for each flagged case and the ordering providers approved the proposed change for 49 of 51 cases (98.08%). For the 49 modifications, the cost savings totaled $98,750.64, for an average of $2,015.32 saved per modification. This study was one of many, but other groups have showed similar results.

These cost savings are staggering and highlight that genetic counselors reviewing test orders can not only improve genetic test ordering strategies, but also decrease the amount of health care dollars spent on genetic testing. Genetic test ordering “requires an understanding of the genetic complexities of a condition, an appreciation for the limitations of testing methodologies, and familiarity with ever-changing testing options” (Wakefield, et al. 2018).  Genetic counselors have this expertise as well as “empathy to normalize the frustration with the situation and facilitate problem resolution” (Wakefield, et al. 2018).

The role of a genetic counselor has expanded over time and will likely continue to expand further into non-traditional roles. We will not just educate and advocate for our patients and their families, but ensure that providers have support to navigate the complexities of genetic testing. We will continue to work with laboratories and insurance companies to ensure that appropriate testing is ordered and assist in reducing health care costs. We will continue to position ourselves as a critical member of a heath care team.

I had no idea when I was in college all the places that genetic counseling could take me. I think back to my patient from today, as she walked out the door. She looked back and said, “It sounds like genetic counseling must have been your calling.”

I think she’s probably right.


  • Baty, B.J. (2018). Genetic counseling: Growth of the profession and the professional. American Journal of Medical Genetics, Retrieved from https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.31601.
  • National Society of Genetic Counselors (NSGC). (2018) About Genetic Counselors. Retrieved from https://www.nsgc.org/index.php?mo=cm&op=ld&fid=477#do.
  • Wakefield, E., Keller, H., Mianzo, H., Nagaraj, C.B., Tawde, S., & Ulm, E. (2018). Journal of Genetic Counseling, Retrieved from https://link.springer.com/content/pdf/10.1007%2Fs10897-018-0226-8.pdf.