Evolving Role of Genetic Counselors

Advances in technology, and the understanding of genetic contributions to many common medical conditions have recently launched genetics to the forefront of medicine. Over the past 20 years, there has been a 900 percent increase of genetic tests available. According to the National Library of Medicine, less than 300 available genetic tests were available in the 1990s; at the end of 2012, almost 3,000 genetic tests were available.1

With the increase of tests came the increase in patient demand and thus the growing need for professionals who can both interpret the results and help patients understand their options.

Critical Role
Enter genetic counselors (GC), health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counselors work as members of a healthcare team to help patients understand and adapt to the implications of genetic contributions to disease, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions.

In 2006, genetic counseling was recognized as critically important for appropriate use and integration of genetic tests and services by the Health Resources and Services Administration’s Secretary’s Advisory Committee on Genetics, Health, and Society. GCs provide services in a growing number of specialties, including prenatal services, pediatric genetics, cancer genetics, cardiovascular genetics, neurogenetics and psychiatric genetics. Most GCs are clustered in larger cities and academic centers.2,3,4

Access to Counselors
Historically, patients and families affected with or at risk for rare genetic disorders consulted in-person with a GC, often for an hour or more. The combination of lengthy appointments, physical location and the increased demand for genetic counseling services has led to concerns about access to GCs.

In response, GCs have adapted their service delivery models to reach patients in new ways. A recent survey of the National Society of Genetic Counselors (NSGC) membership found that nearly half of GCs utilize telephone genetic counseling, telegenetic videoconferencing and group genetic counseling models, in addition to the traditional in-person genetic counseling model.

Telephone Counseling
Some GCs deliver a session completely by telephone in a one-on-one interaction for patients with a new indication or concern. Patients report acceptance of this model equal to that of a traditional in-person session.5 Examples of this success include such companies as Informed Medical Decisions Inc., which offer telephone-based genetic counseling by board-certified genetic counselors. Laboratories that offer genetic testing are adopting telephone genetic counseling as a supplemental service and valuable add-on for their patients and providers.

“I have found that providing telephone genetic counseling has not only allowed me to reach patients in many rural areas which would not otherwise receive genetic counseling, but that the unique privacy offered by a telephone conversation has added a level of intimacy to my sessions,” says Kara Milliron, MS, CGC, a cancer GC with Informed Medical Decisions.

Video and Web Conferencing
Genetic counselors also offer telegenetic counseling, which is provided remotely via video conferencing or a web link, allowing visual and audio access by both the GC and the patient. While telegenetic counseling has been well received,6,7 the most common barrier reported to its implementation includes the logistics of equipment setup and coordinating sample collection for DNA testing.

In follow-up to the NSGC survey on service delivery models, individual GCs were interviewed to better understand the limitations and barriers to using various service delivery models. One interview participant who provides genetic counseling to a very large service area, which includes an outreach clinic more than 200 miles away, reported that adding telegenetic counseling into her practice model enabled her to increase the frequency of outreach clinics, allowing for shorter referral wait times and reducing her own required travel time and cost.

Small Group Sessions
Group genetic counseling occurs when multiple unrelated patients meet together, often for a common indication, with a GC providing education and options for genetic testing. This model may or may not also include brief individualized consults. Group genetic counseling was first reported in the prenatal setting; however recent reports indicate cancer genetic counseling groups are also well received.8,9

Group counseling sessions offer a community of support, and also can fast-track access to information. For example, triaging similar patients into group sessions allowed one GC to successfully reduce what was a more than six-month wait-list for appointments.

An Evolving Field
While in-person genetic counseling continues to be the primary model of delivery, new models are successfully being incorporated to meet growing demand for the expertise provided by GCs. Each practice setting and specialty will likely have unique needs, thus affecting which service delivery models best fits a given organization or practice. As the demand and need for access to GC increases, these models will continue to evolve and new models may be developed to meet patient needs.

The following National Society of Genetic Counselors members contributed to this article: Shanna Gustafson, MS, MPH, CGC, Division of Molecular Medicine & Genetics, University of Michigan Health Systems in Ann Arbor, Mich. (sgustaf@med.umich.edu); Stephanie A. Cohen, MS, CGC, LCGC, Cancer Genetics Risk Assessment Program, St. Vincent Hospital in Indianapolis (SACohen@stvincent.org); Monica Marvin, MS, CGC, Genetic Counseling Program, University of Michigan in Ann Arbor, Mich. (monicama@med.umich.edu)

1. GeneTests Web. Available at: www.ncbi.nlm.nih.gov/sites/GeneTests (last accessed Jan. 16, 2013).
2. Wham D, Vu T, Chan-Smutko G, Kobelka C, Urbauer D, & Heald B. Assessment of clinical practices among cancer genetic counselors. Fam Cancer 2010;doi:10.1007/s10689-010-9326-9.
3. McPherson E, Zaleski C, Benishek K, McCarty CA, Giampietro PF, Reynolds K, et al. Clinical genetics provider real-time workflow study. Genet Med 2008;10(9), 699-706.
4. Uhlmann WR., Schutte JL, & Yashar BM (Eds.). (2009). A Guide to Genetic Counseling (2nd ed.). New York: Wiley-Blackwell.
5. Sutphen R, Davila B, Shappell H., Holtje T, Vadaparampil S, Friedman S, et al. Real world experience with cancer genetic counseling via telephone. Familial Cancer 2010;9(4), 681-9 .
6. Hooper B, Buckman M, & Edwards M. Evaluation of satisfaction of parents with the use of videoconferencing for a pediatricgenetic consultation. Twin Res Hum Genet 2011;14(4), 343-6.
7. Zilliacus EM, Meiser B, Lobb EA, Kelly PJ, Barlow-Stewart K, Kirk JA, et al. Are videoconferenced consultations as effective as face-to-face consultations for hereditary breast and ovarian cancer genetic counseling? Genet Med 2011;13(11), 933-41.
8. Young R, Jorgenson R, & Shapiro S Efficacy of and patient preference for three counseling formats. Journal of Craniofacial Genetics and Developmental Biology 1986;6;3-14.
9. Ridge Y, Panabaker K, McCullum M, Portigal-Todd C, Scott J, McGillivray B. J Evaluation of group genetic counseling for hereditary breast and ovarian cancer. Genet Couns 2009 Feb 18;1:87-100.

About The Author