Addressing Cross-Specialty Clinical Genetics Education Needs

Abstract

Introduction:

Advances in genomics are transforming clinical practice, but there are too few genetics professionals to meet increasing demand. Moreover, many nongeneticist clinicians feel unprepared to incorporate genetics into practice. This study assessed clinicians' unmet genomics educational needs at a single academic institution.

Methods:

Qualitative interviews with Department and Division leaders informed a survey distributed to all clinicians at the institution. Survey questions focused on current practices, confidence, and desired educational resources around genetics and genomics. Data were analyzed using descriptive statistics and Fisher exact tests. Results were shared with an expert panel of Genetics-Genomics Champions to help meet educational needs across specialties.

Results:

Of the 215 survey respondents, 72% were faculty, 24% were trainees, and 4% were clinical staff, representing 18 departments. Less than half felt confident using genetics in the clinic. About 81% desired more training, which did not differ by role (P = .27) or department (P = .98). The Genetics-Genomics Champions proposed delivering just-in-time content via e-consults, online materials, and departmental meetings.

Discussion:

This study highlights clinicians' need and desire for more genetics training. It also underscores the importance of consulting genetics-savvy clinicians to identify challenges and solutions for addressing cross-specialty genetics education needs.

Completion of the Human Genome Project ushered in the advent of genomic medicine. However, challenges to implementing it into clinical practice persisted a decade later.¹ These barriers inspired a concerted effort by the US government, the Precision Medicine Initiative, launched in 2015² and a global call to action from clinical geneticists to incorporate genetics and genomics into all specialties.³

Barriers to implementing genomic medicine remain multifaceted. A shortage of genetic counselors impedes the use of genomic medicine, delaying or denying some patients potential benefits through missed diagnoses.^4–6 It is impractical to expect all clinicians to become expert geneticists; thus, sharing expertise between specialists and primary care physicians is crucial.^7,8 Progress has been made in certain areas. The National Comprehensive Cancer Network provides continuing education and guidelines for clinicians on genetic testing for patients at risk for hereditary cancers.⁹ The broader continuing education community must prepare for similar demands to come given the increasing volume of genetic and genomic information available to clinicians and patients.

This report describes challenges and potential solutions at the University of California, San Francisco (UCSF). After assessing unmet genetics educational needs through interviews and a clinician survey, we developed a plan that included consulting with Genetics and Genomics Champions (Genetics-Genomics Champions [GGCs]), genetics-savvy clinicians. Our mixed-methods approach provided insights from both qualitative, in-depth sharing of experiences and quantitative analysis of survey data from a broad sample of clinicians. We hope that sharing our approach and progress at UCSF will benefit other institutions addressing clinical genetics education needs.

METHODS

This study was conducted by the UCSF Institute for Human Genetics (IHG) Education Committee, consisting of genetics educators, trainees, clinicians, and researchers, including nationally recognized leaders. Participants provided informed written consent, and the UCSF Institutional Review Board deemed this study exempt from human subject review (IRB #19-29760).

We developed an eight-item interview guide covering how clinicians use genetics, their genetic resources, and their educational needs. Thirteen departmental leaders were selected for interviews based on their prominent roles in medical education at UCSF. They represented a spectrum of practitioners from the more general (eg, Family Medicine) to the more specialized (eg, Neurology). Interviews were conducted by IHG committee members, with responses recorded, anonymized, and analyzed thematically.¹⁰

A 36-item survey, informed by interview themes and refined by IHG committee members, was distributed to UCSF clinical faculty and trainees. Beta testing was performed by members who were not involved in the survey design. The survey included questions about demographics, use of genetics in practice, confidence with genetics-related tasks, and interest in genetics education. The survey was emailed to all faculty and trainees within clinical departments at UCSF using Qualtrics software (Qualtrics, Provo, UT) between June and July 2020. Descriptive statistics and Fisher exact tests were generated using Stata/BE 18.0 (StataCorp 2024).

Results were presented to UCSF School of Medicine Department Chairs, who nominated GGCs from each of their departments. These GGCs met with IHG Committee members monthly for a year to establish a plan for addressing genetics education needs.

RESULTS

All 13 invited departmental leaders were interviewed. Most (9/13) viewed genetics as essential for clinical practice and believed additional training is needed. Educational themes included communicating genetic test results, ethical guidelines, and effective delivery methods, which informed the subsequent institution-wide survey. There was also a consensus on the need for clinical genetics “champions” within each specialty to facilitate genetics training.

The survey was completed by 215 clinicians from all 18 UCSF departments, including 40 fellows or residents and 175 clinical faculty or staff. Overall, 67% did not order genetic tests or refer patients for genetic consultation in the past 6 months. Pediatricians ordered/referred within 6 months more often than other departments (P < .01). Many clinicians (58%) cited a need for more knowledge or experience as the primary reason for infrequent testing and referrals, and this did not differ across specialties (P = .17). Less than half felt confident in most clinical activities related to genetics. More were confident in recognizing the need for referrals than in interpreting the results of genetic tests (Figure 1).

FIGURE 1.

Self-reported confidence levels among 215 practicing clinicians in performing genetics and genomics-related activities.

Most (81%) surveyed clinicians desired more genetics training to feel more confident using genetic tests in practice, which did not differ by whether they were faculty, trainee, or staff (P = .27) or by specialty (P = .98). Of the 13 genetics-related topics proposed on the survey, the five most desired were 1) an overview of genetic/genomic tests (66%), 2) interpretation and communication of test results (54%), 3) use and limitations of direct-to-consumer testing (48%), 4) ethical issues and informed consent (38%), and 5) human genetics fundamentals (38%). Most (82%) preferred asynchronous online courses or workshops.

Twelve of 13 GGCs nominated by departmental leaders participated in monthly meetings to identify challenges in providing training to busy clinicians. Proposed solutions included more access to genetic counselors, electronic consult services, EHR alerts to indicate when to order genetic tests, and incorporating genetics education with existing meetings, such as Grand Rounds. They recommended just-in-time, easily accessible resources, including online FAQs and brief practical tutorials. Topics included how to order a genetic test, provide informed consent, and understand a genetic test report. Logistical barriers were also identified, such as lack of authorization by some clinical staff to order genetic tests, time constraints, and lack of insurance coverage for outsourced genetic services were also identified.

DISCUSSION

This study emphasizes the importance of continuing genetics and genomics training for clinicians. Cross-specialty gaps and needs include understanding the types and utility of genetic tests, interpreting and communicating results, and ethical issues like informed consent. Key informant interviews and surveys revealed that clinicians want more training to integrate genetics into their practice confidently. Engaging with GGCs from various specialties was invaluable in understanding cross-specialty educational needs. They also highlighted institutional and logistical barriers that need to be addressed in parallel and as part of the curriculum.

As a result of this study, UCSF has already implemented or is developing new solutions. For example, our pharmacogenetic testing service now provides education through clinical decision support systems,¹¹ and genetics talks have been integrated into specialty-specific Grand Rounds. Other institutions have also succeeded in increasing clinician preparedness for using genetics in the clinic through educational programs.¹² However, changes in clinician behavior require collaborative efforts and often involve changes at multiple levels of a health care organization.¹³

While direct education of nongeneticist clinicians is crucial, even clinicians with the experience and desire to incorporate genetic test results into clinical decision-making still need access to genetics professionals.¹⁴ Our GGCs also highlighted the need to expand the genetics workforce. The benefits of working with clinician GGCs were consistent with other studies showing that clinical “champions” can reduce barriers and promote change in practice.¹⁵

Our approach had strengths and limitations. A significant strength is the breadth of expertise in human genetics research, education, clinical practice, and leadership that was leveraged to design the interviews, survey, and panel of GGCs. The survey instrument was broadly distributed to practicing clinicians in various roles and departments/specialties at UCSF. The independent panel of GGCs further contributed to developing a plan for practically and realistically delivering educational resources. A limitation of the study is that our interviews were conducted in 2019 before the COVID-19 pandemic began, and the survey was distributed in 2020 during the height of the pandemic. This may have led to some bias in the specialties represented in our survey data, and it also made it impossible to determine a true response rate based on how many opened the email invitation. However, the independent panel of GGCs assembled and consulted in 2023 confirmed that the same desires and challenges remained relevant to their specialties. Finally, while our findings may be more applicable to large institutions like UCSF than to smaller or less well-resourced ones, we anticipate that there are important implications for practice at other health care institutions. Future efforts will focus on adding more specialty-specific educational topics at our institution like those already implemented in Pharmacogenomics. The content and delivery of these materials will likely need to be tailored to be sure we are minimizing burden and maximizing utility based on specialty-specific needs and challenges. In addition, we will be sharing our results at national and international conferences to identify potential collaborators for creating more generalized recommendations for enhancing genetics education for clinicians.

CONCLUSION

Given that advances in genomics are transforming health care but are hindered by a shortage of clinical geneticists, our study underscores the importance of appropriate training for nongeneticist clinicians. Our results highlight the need for genetics education across all specialties, meeting clinicians “where they are” and recognizing the crucial role of GGCs in education. These observations may inform other health care institutions in planning cross-specialty clinical genetics education.

Lessons for Practice

• ■ Nongeneticist clinicians desire more training in genetics and genomics to feel confident using and interpreting these results for patient care.

• ■ Clinicians need educational materials to reach them “where they are at” via genetics and genomics e-consultations with clinical geneticists, easily accessible online materials, grand rounds and other departmental meetings.

• ■ Medical institutions should consult with internal genetics-savvy clinicians from various specialties to identify opportunities for educating nongeneticist clinicians within and across specialties at their institution to ensure genetics and genomics is incorporated appropriately into patient care.