The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment

ABSTRACT Background Genetic counselors (GCs) have practiced in Inherited Retinal Disease (IRD) clinics for several decades. In this small subspecialty of genetic counseling, GCs are critical for patient understanding of genetic information, which can have prognostic, systemic, family planning and therapeutic implications. Recently, both access to genetic testing for IRDs and the number of genes associated with IRDs (>350) has increased dramatically. However, the practice models and roles of IRD GCs have not been previously described. Materials and Methods GCs working in academic IRD clinics were surveyed to assess their experience, clinical practices, and roles performed. The collected data was compared to the broader genetic counseling profession and to other specialties using publicly available data on GC professional practices. Results While roles of IRD GCs were overlapping with those of the overall genetic counseling profession, all survey respondents reported diverse roles that included both clinical and non-clinical duties, spending up to half their time on research and educational responsibilities. Most respondents (89%) felt that their clinic’s MD to GC ratio was too high, while clinical load varied. IRD GCs report varying degrees of prior genetic counseling and ophthalmology-specific experience but unanimously desire additional subspecialty-specific training. Conclusions This descriptive assessment of a small subspecialty suggests a need for growth in the number of GCs practicing in IRD clinics and could help to inform development of new GC positions in IRD centers. It also highlights the desire for additional GC-specific education and may be relevant to curriculum development within GC programs.


Introduction
Inherited retinal diseases (IRDs) are a phenotypically diverse group of conditions resulting in irreversible, often progressive vision loss.Currently, there are over 350 genes implicated in IRDs, including syndromic and non-syndromic forms.There have been considerable therapeutic advances over the last 20 years for these previously untreatable conditions, including one FDA-approved gene therapy (Luxturna; RPE65-mediated retinal dystrophy) and numerous genetic therapies in clinical trials.With these advances, a patient's understanding of the genetic basis of disease and risk assessment in family members becomes more critical, with genetic results directly impacting therapeutic eligibility and clinical trial participation (1,2).As a result, multiple sponsored genetic testing programs for IRDs have emerged.
The value of genetic counseling in the subspecialty of IRD has been recognized since the 1980s (3); however, considering the high diagnostic yield of genetic testing for IRDs and the developing gene-specific treatment opportunities for this group of conditions, the number of GCs embedded in a retinal dystrophy clinic represents an extremely small proportion of the GC workforce.Among the over 5,000 GCs certified in the US, most continue to practice in the core specialties of oncology, pediatrics and prenatal care.
However, an increasing number of GCs are now practicing in emerging subspecialties, including cardiogenetics, neurogenetics and psychiatric genetics (4,5).According to the 2022 National Society of Genetic Counselors (NSGC) Professional Status Survey (PSS).Ninety-three respondents (3%) reported a clinical role in ophthalmology, while only 19 respondents (<1%) indicated this was their primary position.These figures are likely underestimates given the response rate of 45% among eligible GCs; however, these GCs may be working in a variety of clinical settings and seeing patients for both ophthalmic and non-ophthalmic indications.Therefore, while the exact number of GCs practicing primarily within an IRD clinic is unknown, it is estimated to be < 20 in the USA.An understanding of the roles this group of GCs serve in IRD clinics can inform anticipated growth of IRD clinics, development of new positions and continuing education opportunities.
We describe the workforce of IRD GCs by summarizing responses to a survey of GCs practicing primarily in IRD clinics at U.S.-based academic medical centers.The roles, clinical team, service delivery models and educational experiences of these GCs are summarized and contrasted with practice models of mainstream genetic counselors, with an emphasis on the diversity of roles GCs serve in IRD clinics.

Methods
Following approval by the Oregon Health and Science University Institutional Review Board (IRB #24245), a survey was sent out to 10 genetic counselors known to practice in U.S.-based IRD clinics on 23 May 2022.Their names and contact information were obtained by personal correspondence or by publicly available records of the National Society of Genetic Counselors (NSGC).
The study's purpose was threefold (1): To analyze the experience of genetic counselors practicing in IRD clinics at major academic medical centers in the United States (2), to determine the diversity of roles of genetic counselors working in IRD clinics and (3) to compare workload and service delivery models of this subspecialty to that of the overall genetic counseling workforce.Invitees were encouraged to share the survey with others practicing in the subspecialty.The invitation included a link to an online survey via Qualtrics, with one email reminder sent approximately 3 weeks from the date of the original invitation.Eligibility criteria included practicing genetic counseling for patients with ophthalmic diseases and consenting to the use of de-identified responses for the purpose of research and publication.

Instrumentation
A survey was designed (M.M.) to collect data regarding experience, roles and opinions about the IRD subspecialty.The survey was piloted to a genetic counseling assistant (K.A.) and a retinal specialist (L.E.), neither of whom was a participant in the collected data set.Their feedback resulted in minor changes to the survey.

Data analysis
Means, medians, and percentages were calculated, as appropriate for all data points.

Results
Nine of nine survey respondents reported that the primary indication they see patients for is IRD; this group will be referred to as "IRD GCs."Though all respondents spent most of their time in the IRD clinic, some also saw patients for other indications (see supplemental data).
Respondents were asked to indicate in which of the following categories they spend time (1): Clinical duties (genetic counseling) (2), Clinical duties (other) (3), Research (4), Education and (5) Administration/Leadership. All respondents reported clinical duties (genetic counseling) and roles in at least 2 other categories (see Table 1).All respondents also spend the majority of their time on patient care (see supplemental materials).
Respondents reported that their clinic was supported by 1-4 IRD specialists and 1 (n = 4, 44%) or 3 (n = 5, 56%) GCs (see Table 2).Six respondents (three from each GC team size) felt that their clinic had a current need for additional GC support.Among the three respondents who felt that their team had adequate GC support, one reported an anticipated need based on clinic growth.Overall, only 2 respondents did not identify a current or anticipated need for increased GC support.Understaffing was also a theme identified from free text responses, highlighted by the following quotes: My position is 50% research and 50% patient care.However, due to clinical demands I spend 90% of my time on patient care.I think that our ratio of 1 FTE GC would be appropriate if 100% of that time was spent providing genetic counseling; since this is the minority of how I spend my time, we definitely need more genetic counseling support.
Five respondents (55%) reported a genetic counseling assistant (GCA) as part of their team (see Table 2) and reported that most helpful GCA tasks were scheduling results calls and maintaining databases; other tasks included taking pedigrees, requesting records, drafting orders and performing prior authorizations.
Patient-facing days per week ranged from 1-4, with 7 respondents (78%) indicating they spend 3 or more days in clinic.Three IRD GCs (33%) reported 4 clinic days per week, all of whom indicated that they are the only GC in their group and that their clinic could use additional support for genetic counseling services.
The majority of respondents (n = 8, 89%) reported seeing pre-test patients both in coordination with an ophthalmology clinic visit ("coordinated") and as an independent genetic counseling visit.The most common volumes for coordinated and independent visits (per month, per GC) were 30-40 and fewer than 10, respectively (Figure 1).No differences in preparation time were noted between coordinated and independent genetic counseling visits.Average preparation time for pre-test and post-test visits was 0.97 hour and 2.23 hours, respectively.
Respondents were asked to select all of the following service delivery options they utilize for results disclosure: phone (scheduled), phone (unscheduled), telehealth/video, in-person.Phone (scheduled) was the most common (89%), followed by phone (unscheduled) and telehealth/ video (56%) and in-person (44%).
Among survey respondents, billing practices varied widely: 33% of IRD genetic counselors do not ever bill for their services.33% always bill and 33% report billing for certain appointments.Data regarding rationale for billing practices was not collected, nor was billing practice stratified by visit type (in-person vs. virtual vs. phone).
The distribution of years of GC experience is summarized in Figure 2. Four respondents (44%) had non-didactic ophthalmology experience (clinical or research) prior to their current position.Five respondents (56%) indicated that they had didactic ophthalmology training in their genetic counseling program, with no trend noted based on years of GC experience.Three respondents (33%) had no ophthalmology experience prior to their current position; among these were the 2 most tenured in their current IRD position.
All respondents agreed that IRD GCs could benefit from additional ophthalmology-specific educational opportunities.Respondents also indicated that the following educational opportunities would have been most helpful prior to Survey respondents were asked to report the roles they serve in their clinic.The second column provides the percentage of respondents (n = 9) that reported spending time in each category.The third column provides the proportion of time that is spent in a given category among the 5 respondents that provided this data.The final column lists the self-reported types of roles that respondents in each category.

Discussion
Genetic counselors practice in a wide variety of settings, including general genetic counselors who may visit ophthalmology clinics on a regular schedule.While there are various practice models for delivering genetic services to patients with IRDs, our results suggest that employing GCs within the context of an IRD clinic is an existing and feasible model.

Roles of genetic counselors in IRD clinics
All IRD GCs reported that, in addition to a clinical role, their position encompassed a diversity of non-clinical responsibilities (Table 1).While the professional rate of GCs practicing in a clinical and non-clinical mixed role is only 22%, this data supports previous reports that GCs practicing in subspecialties often have non-patient care responsibilities (5,6).The variety of roles performed by IRD GCs highlights the diverse skillset a GC can bring to an IRD team.While some of these roles may be performed by non-GCs, the specialized training of a GC brings a unique perspective to contribute to the overall care of patients with IRDs.Additionally, at many institutions, IRD genetic counseling needs may be met by genetic counselors  who are not embedded within a retinal dystrophy clinic; for simplicity, their practice models are not represented in this study.However, better understanding the roles of GCs in retinal dystrophy clinics may provide further insight into the diversity of contributions GCs to ophthalmology practice, regardless of team structure or ocular indication.

Care team, caseload, service delivery and billing practices
While GC team size overall appears to grossly align with other similar GC positions (ophthalmology GCs report a median team size of 3; GCs practicing in mixed-roles report median team size of 5) (5) (see Table 2); staffing in this subspecialty appears to be inadequate, regardless of team size.This could be driven by the recent increased availability, panel size and clinical utility of genetic testing for IRD indications (7).While growth of this subspeciality is anticipated, additional research is needed to collect data on growth in number GCs practicing in IRD clinics.The wide variability in caseload (number of patients seen per month, see Figure 1) is difficult to further assess due to sample size and organizational and positional variables.However, the average case preparation time reported by IRD GCs was longer than that reported by 90% of genetic counselors in all specialties (5).We hypothesize that this could influence IRD GCs staffing perceptions and speculate numerous variables that may account for this difference, including case complexity, panel size, and research participation.
When delivering results, phone disclosures were the most common modality utilized by IRD GCs.This is in contrast to the audio-visual approach by most commonly used for service delivery by genetic counseling professionals.Interestingly, this is a shift from pre-pandemic delivery models in genetic counseling, which were primarily in person (5).We hypothesize that visual impairment among patients in this subspecialty may account for the prevalence of phone disclosure; however, further investigation is warranted.Pre-test service delivery models were not assessed in the survey, which is a limitation of this study.
Reimbursement practices were quite variable among respondents; these billing practices are likely influenced by geographic and institutional factors, including licensure, credentialing and utilization of sponsored testing programs.Importantly, differences in billing practices may affect funding to support GC services.For IRD clinics interested in adding a GC to their team, it may be important to explore reimbursement rates and billing frequency for GC services.Additionally, given the participation of IRD GCs in clinical trial eligibility review and recruitment, other avenues of capturing revenue for GC services could be considered in the future.

Prior experience, education and training
The distribution of years of GC experience for respondents (Figure 2) was well-aligned with the reported experience of GCs in all specialties.This distribution likely reflects the recent increase in the number of genetic counseling programs and graduates, and this growth in the profession is expected to continue.The tenure of GCs in this subspecialty without prior GC or ophthalmology experience suggests that the IRD subspecialty may be a suitable option regardless of years of GC or ophthalmology experience.However, further evaluation is warranted to assess the preparedness of new graduates to this subspecialty practice.
The unanimous desire for additional subspecialty education aligns with prior studies that have reported on-the-job learning and post-graduate educational demands among subspecialty GCs (8)(9)(10).This may be further compounded by the expansion of genetic therapies for IRDs.The variety of additional desired education includes pre-and post-graduate opportunities, highlighting the potential benefit of a multifaceted approach to meeting this educational demand.Efforts to meet this desire may include development of ophthalmology and gene therapy-related curriculum for GC students.Recently, a one-year GC IRD fellowship has been developed, aimed at meeting the additional training needs of future GCs desiring to practice in the subspecialty and to prepare for anticipated growth in the field.Future initiatives could aim to collect data to inform development of evidence-based training of IRD GCs.

Conclusions
A small group of GCs work primarily in academic IRD clinics in the United States.While prior studies have explored the expansion of genetic counseling into subspecialty clinics and the roles of GCs in these settings, to our knowledge, this is the first report to describe the workforce and practice models of IRD GCs.In many ways, IRD GC practice overlaps with the broader GC profession.However, IRD GCs are more frequently in mixed roles and have different caseload and service delivery model trends.Additionally, the current IRD GC workforce is not meeting the demands of the field and has a collective desire for additional training.Although this study has several limitations (i.e., small sample size, ascertainment bias), it highlights the integral role of GCs in IRD clinics and may provide insight for integrating GCs into existing IRD clinics.Additionally, as subspecialty practices grow, the increased demand for GCs in mixed roles will have implications for training programs and continuing education opportunities for genetic counselors.Further studies are warranted to explore questions raised by this baseline study.
beginning an IRD GC role (1): clinical ophthalmology rotations during genetic counseling training (2), an ophthalmology genetic counseling fellowship following graduation (3), increased didactic instruction during their genetic counseling training.

Figure 1 .
Figure 1.Monthly volume of patient visits.Number of coordinated (with ophthalmologist; circle) and independent (square) pre-test genetic counseling visits.Maximum response value of "> 40" is represented as 40-50 for illustrative purposes.

Figure 2 .
Figure 2. Experience of IRD GCs.Years of practice as a GC (light gray) and as a GC in ophthalmology (dark gray) among IRD GCs.

Table 1 .
Roles of IRD GCs in the retinal dystrophy clinic.

Table 2 .
Team structure and staffing of GC IRDs.
FTE = Full Time Equivalency; GC = genetic counselor; GCA = genetic counseling assistant; MD = physician; NR = not reported; PT = part-time.*Anticipate future need with interest from other services.^Including respondent.+ Free text response indicating partial support of at least 1 additional physician.Survey respondents indicated the percent of time they spend on clinical genetic counseling duties (% FTE), how many other GCs and MDs are on their team, their perceived need for additional GC services and available support staff.