New Strategies Seek to Expand Genetic Counseling Capacity, Remove Workforce Constraints on Testing

Geneticists and genetic counselors are in short supply. The shortage has even been a bottleneck for expanded clinical use of large molecular panels and whole-exome sequencing, which require patient counseling. It has been presumed that increasing the workforce capacity of these genetics experts, could remove workforce issues as a barrier to testing and increase comfort among nongenetics specialists ordering and counseling patients about results of complex, genetic tests.

The annual conference of the National Society of Genetic Counselors was held Sept. 13-16 in Columbus, Ohio. Many presentations focused on how to expand workforce capacity in order to improve access to services. Below is a sampling of studies that examined alternative strategies, including webbased, on-demand, and telemedicine options, to extend the reach of genetic counselors in clinical settings.

Web-Based Education about Exome Sequencing Okay
The best "full member" abstract award at the conference went to researchers at the National Human Genome Research Institute who tested a web-based alternative to in-person carrier results return. They designed a web platform that integrated education regarding carrier results with individualized test results.

A total of 462 participants were randomized to receive either web-based or counselor-delivered results. One to seven carrier results were returned to each participant. The web was non-inferior to the counselor at six months after return of results for the following outcomes: knowledge, distress, risk worry, and decisional conflict. There were no significant differences between the two groups in disclosure rates to children, siblings, or providers.

"[The results] should spur efforts to shift the communication of certain information about genomic test results from the clinic to the Internet to improve efficiency and reduce health care costs, allowing genetic counselors to prioritize in-person return of more threatening health risk information from sequencing," conclude the authors led by Barbara Biesecker, Ph.D.

Remote Genetic Counseling Improve Clinical Decision-Making
Researchers from Invitae (San Francisco, Calif.) tested a novel model for hereditary cancer risk assessment where 14 community-based breast cancer surgeons had "on-demand" access to a remote laboratory-based genetic counselor for consultation about testing eligibility and selection. The multiple participating clinical sites did not have a genetic counselor as part of their practice. Physicians could opt to utilize remote genetic counselors to discuss results or they could refer to traditional genetic counseling services.

Over the study period 236 patients were evaluated. Physicians used risk assessment tools (BRCAPRO and the Hughes Risk model) on 98 percent of patients. Nearly two in three patients (65 percent) met National Comprehensive Cancer Network guidelines for testing. After discussion with a genetic counselor, breast surgeons changed their test selection 21 percent of the time. Clinicians called to discuss results in just under half of cases (47 percent). Furthermore, based on these discussions with a remote genetic counselor, medical management changes were incorporated in 15 percent of these cases.

Non-invasive Prenatal Screening Results Management
Use of non-invasive prenatal screening (NIPS) has grown dramatically and is increasingly offered by nongenetics specialists. Yet, all major guidelines recommend that patients with both negative and positive results be counseled regarding limitations of testing.

Researchers from Counsyl (South San Francisco, Calif.) evaluated their "next-generation" counseling model. It consists of: provider notification of results availability; patient notification, if negative, in which a patient receives automated email to access results through a secure portal where she may watch tailored informational videos, request on-demand genetic counseling, schedule a later consult, or decline all of the above; direct patient contact by the ordering provider or Counsyl genetic counselors if the results are positive.

Over a 29-month period, 27,827 NIPS results were issued through the Counsyl system. Of these, 1,975 patients elected genetic counseling, 96.6 percent of whom received negative results. Of those wanting genetic counseling, 65.2 percent of patients with negative results and 72.1 percent of patients with positive results selected on-demand consult. For positive results, average consultation time was 15 minutes and seven minutes for negative results.

The average patient satisfaction rating for consultations was 4.9 out of 5.0.

Patient Satisfaction
The Providence Health and Services hospital system conducted a seven- question survey to assess patient satisfaction with three models of genetic counseling: one-on-one telegenetic counseling, in person group counseling, and traditional one-on-one in person counseling.

The researchers found that 100 percent (202/202) of patients surveyed report being satisfied with their visit, regardless of type of genetic counseling (telegenetic [n = 89], group [n = 20], or traditional [n = 88] counseling). The groups did not significantly differ with regard to ease of use, recommending the service to a friend, comfort in communicating, or time spent in the visit. The only significant difference seen was related to visit experience versus expectations. Patients seen in the traditional setting more often stated that the visit was "better" than expected versus the alternative models (91 percent traditional, 50 percent group, and 18 percent telegenetic).

"Based on this preliminary data, it appears that both alternative models may be acceptable to patients as a substitute for traditional counseling," conclude the authors, led by Monica Helm.

Telegenetics from Counselor's Perspective
Researchers from Virginia Commonwealth University conducted semi-structured interviews with board certified genetic counselors, who had conducted both a telegenetics and an in-person new patient appointment within the last 5 years. The researchers identified 20 themes from participants' answers, the most frequent of which were recognition that telegenetics increases accessibility for patients and technological errors pose difficulty in telegenetics session. While the respondents said overall, telegenetics sessions were similar to in-person appointments and they do offer benefits for the patients, most counselors still prefer in-person counseling due to the perceived difficulty with psychosocial assessment.