The field of genomics is rapidly impacting medical care across specialties. To help guide test utilization and interpretation, pathologists must be knowledgeable about genomic techniques and their clinical utility. The technology allowing timely generation of genomic data is relatively new to patient care and the clinical laboratory, and therefore, many currently practicing pathologists have been trained without any molecular or genomics exposure. Furthermore, the exposure that current and recent trainees receive in this field remains inconsistent.
To assess pathologists' learning needs in genomics and to develop a curriculum to address these educational needs.
A working group formed by the College of American Pathologists developed an initial list of genomics competencies (knowledge and skills statements) that a practicing pathologist needs to be successful. Experts in genomics were then surveyed to rate the importance of each competency. These data were used to create a final list of prioritized competencies. A subset of the working group defined subtopics and tasks for each competency. Appropriate delivery methods for the educational material were also proposed.
A final list of 32 genomics competency statements was developed. A prioritized curriculum was created with designated subtopics and tasks associated with each competency.
We present a genomics curriculum designed as a first step toward providing practicing pathologists with the competencies needed to practice successfully.
While molecular pathology and single gene tests are now common components of many pathology practices, rapid technology advances and declining costs have brought the ability to interrogate large portions of the genome with a single test (“genomics”) to clinical laboratories. The applications of genomics are being explored by every medical specialty and may be clinically useful for diagnosing and classifying disease, determining disease risk, generating prognostic information, and predicting response to therapy.
In comparison to the molecular tests already in routine clinical use, genomic tests generate a greater quantity of objective detailed data. These data need to be analyzed and interpreted in the patient-specific clinical context, and pathologists are in a prime position to provide this service. Pathologists are already responsible for the quality and rigor of most laboratory test results and interpretations.1,2 As such, pathologists have the necessary expertise in laboratory management, quality assurance, and regulatory oversight. They also have access to patient samples and experience ensuring specimen integrity and identity. With the introduction of new technology and associated applications, genetic and genomic testing will become generalizable across the full spectrum of clinical laboratory diagnostics.1 All pathologists, regardless of subspecialty, will need to integrate the results of genomic testing with histologic diagnoses, other laboratory results, and patient history to generate effective reports with clinically actionable information.3
Several groups of experts have acknowledged the need for increased pathology community engagement in the emerging field of genomic medicine and have called for pathologists to be at the forefront of embracing new technologies and demonstrating competence in this area.4–7 In 2010, a group of thought leaders representing national pathology organizations and other stakeholders met at the Banbury Conference Center (Cold Spring Harbor, New York) to address the future of personalized medicine. These leaders specifically called for education of practicing pathologists in the use of genetic data and information.5 The Banbury conference participants reached a similar conclusion as a group of European thought leaders: without a genomic medicine toolset, pathologists risk losing their key position in precision diagnostics.4,5
The need for educating health care providers in genomics has also been acknowledged both nationally and internationally.8,9 Genomic curricula have been developed for PhD students, nurses, and pharmacists.10–13 Nursing competencies for genetics and genomics have been defined in many countries and outcome indicators drafted.12,14 Yet, in medical school curricula, a gap in genomic education has been acknowledged, which extends into the training of pathology residents.15 In a survey of pathology residency program directors, less than a third said they provided education in genomic pathology topics.16 To address this educational gap, genomic curricula have been developed for pathology trainees and medical students at the institutional level and by a working group of the Program Directors Section of the Association of Pathology Chairs.1,16–18 A need remains to educate practicing pathologists. An effective genomic curriculum must take into account the variable pathologist knowledge base, practice setting, experience, and choices for continuing medical education. Many different components for inclusion in genomics curricula have been identified by others and include topics from the scientific, technical, and regulatory to the economic, legal, and ethical.4,17 What is needed, however, is prioritization of this diverse assortment of subtopics to help guide education for the practicing pathologist.
In 2013, the College of American Pathologists (CAP) implemented a case for change strategy encapsulated in “New Paths…New Choices: Pathology in an Era of Advancing Science and Disruptive Health Economics.” This strategy identified priorities and initiatives to ensure the future success of pathologists and the specialty as a whole in light of a changing health care environment. Delivering value in pathologists' current roles and creating value in new roles and services were identified as essential to helping ensure the future success of pathologists and the specialty. Genomics and informatics were specifically identified as 2 key areas in which pathologists may have enhanced roles. To ensure that pathologists can deliver in these new and enhanced roles, the CAP Council on Education was asked to oversee the development and identification of learning activities. In response, the Council on Education in conjunction with the Curriculum Committee formed 2 working groups to develop curricula in genomics and informatics. This article describes the prioritized curriculum developed by the genomics working group.
The objective of the CAP Genomics Curriculum Work Group was to design a prioritized genomics curriculum targeting the practicing pathologist with minimal to moderate prior knowledge and ability in genomics. To achieve the objective, the work group was asked to identify and prioritize critical competencies (knowledge and skills) that pathologists need in order to practice successfully and remain competitive into the future.
A 9-member work group was formed consisting of 8 individuals with expertise in genomic medicine and 1 CAP Learning staff member. The work group members were identified by the Council on Education and CAP Learning because of their knowledge of curriculum design methodology, genomic laboratory techniques, interpretation, and clinical value. Oversight was provided by the CAP Council on Education and Curriculum Committee. To achieve the objectives, work was performed via conference calls and off-line. For the project, genomic medicine was defined as “clinical care based on genomic information” including “the application and utility of large-scale genomic information management and data architecture in health care diagnostics in pursuit of efficient and cost-effective patient care and health outcomes at the level of individuals, institutions, populations, and communities.” This definition of genomic medicine originated with the CAP's Genomics Strategy Work Group and was approved by the CAP Board of Governors and Transformation Program Office Steering Committee. Both germline and somatic testing was to be considered.
The work group first jointly identified general subject areas for competency in genomics. For each subject area, work group members then drafted competencies (ie, knowledge and skill statements). At least 2 work group members were assigned to each subject area to ensure an exhaustive list. Statements were created by using action verbs to indicate proposed knowledge that individual pathologists should possess and skills individual pathologists should be able to perform. Each member initially worked independently to create his/her own competencies and comment on those of other work group members. All responses were also anonymized before viewing by the entire work group. Such a modified Delphi format allows for pressure-free input (ie, no concern of judgment from other members) and prevents a single individual or a small group from dominating the discussion.19 The lists of competencies were consolidated by the lead of the work group. All members then worked by conference call to refine this list of competencies. This refinement included combining redundant statements as well as removing or adding statements as necessary. Statements considered only critical for specialists were deleted. The competencies were drafted to provide broad coverage of the field and represent the minimum necessary for success regardless of previous training and practice setting.
A needs assessment was then conducted to determine if the refined list of competencies represented actual learning needs for pathologists. Genomic experts who were not involved in the work group were identified for the survey. Each member of the work group provided the name of 3 to 5 experts, and experts were also identified through their service to the CAP. The survey asked participants to rank the importance of each competency statement for the future practice and success of nongenomic or nonmolecular pathologists. Statements were ranked on a scale of 1 to 5 with 1 being unimportant and 5 being critically important. There was also the opportunity to provide comments as well as list additional knowledge and skills not already included. The data provided by the needs assessment survey were used by the work group to create a final list of competencies. A content validity index of 75% was used as a cutoff for inclusion in this final list of competencies. That is, competencies that were rated as very or critically important by 75% of respondents were included in the final list.20 Others not meeting this threshold were also included by work group consensus.
Next, a 7-member subset of the work group convened to further develop the curriculum. Subtopics and tasks a pathologist would undertake to demonstrate competency proficiency were identified for each of the final competencies to create curriculum maps. The work group members also proposed appropriate content delivery methods. Similar to the process used to draft the knowledge and skills statements, work was done off-line to create the curriculum maps, and at least 2 subgroup members were assigned to each subject area. Finally, the subgroup prioritized the curriculum for development. Each member ranked the 6 subject areas from 1 to 6, with 1 being the highest priority. The subgroup members also prioritized the competency statements by ranking the top 3 priority statements under each subject area. These rankings were then used to determine the priority competencies highly relevant to the current or near-future practice of pathologists.
Initially, 8 subject areas were identified: basic genetics and genomic principles; ethical, legal, and social issues; sample acquisition; quality assurance and validation; regulatory and compliance; testing and interpretation; reporting; and patient management. The group drafted 168 initial competency statements in these 8 areas. The lead of the work group then created, through consolidation and removal of redundancy, a list of 76 competencies for review by all members. Through refinement of the list, the work group was able to reduce the list to 49 statements believed most critical to success for the practicing pathologist. The refinement process also revealed that the competencies could be grouped into 6 final subject areas. Those areas were Basic Genomics Concepts; Sample Acquisition; Testing and Interpretation; Patient Management and Reporting; Quality Assurance and Regulatory; and Ethical, Legal, and Social Issues.
The needs assessment survey, used to rank the importance of the 49 initial competency statements, was distributed to 32 genomic experts. Thirteen (41%) responded to the survey at least in part, and 12 (38%) responded to the survey in its entirety. Of those 12 respondents who responded to all questions, 11 (92%) self-reported their genomic knowledge/ability as either extensive or substantial. Nine of the 12 (75%) had at least 5 years of experience beyond training. The survey results confirmed the importance of the competencies identified by the work group. Average importance ratings of the competencies ranged from 3.58 to 4.77. Competencies in the subject areas of Sample Acquisition and Quality Assurance and Regulatory were overall scored as the most important. While individual statements within the Testing and Interpretation and Patient Management areas scored highly, the survey respondents overall scored the other areas as more important to the success of practicing pathologists. Based upon the survey results and work group discussions, a final list of 32 knowledge and skills statements was generated (Table 1). Twenty-one of these competency statements were those that met the 75% content validity index threshold. Of the additional 11 competencies, 7 were revisions of the initial competencies, based on the needs assessment. The other 4 were included, as they were considered by the work group to be highly applicable to future roles pathologists might assume.
Further refinement of the curriculum included creating subtopics and identifying tasks that pathologists may incorporate into their clinical practice to demonstrate proficiency in a given competency. The ideal delivery modality of the curriculum was also considered. The work group identified performance-based and task-oriented education as vital. Therefore, interactive formats and simulated cases were suggested to deliver the educational content to fulfill the curriculum.
Respondents to the needs assessment were simply asked to score the importance of each competency. Since no additional qualifiers were provided, respondents did not necessarily consider relevance to current or near-future practice or ability to transform the specialty. As such, upon further discussion, the subgroup identified 3 priority educational areas: Testing and Interpretation; Sample Acquisition; and Patient Management and Reporting. While competencies within the Sample Acquisition subject area were identified by the needs assessment respondents as most important, those within the areas of Testing and Interpretation and Patient Management and Reporting did not rate as highly. The work group members, however, considered these areas to be highly relevant to the current or near-future practice of pathologists. That is, they may have the most significant impact on the transformation of pathology for the typical pathologist. Although the work group agreed with the needs assessment responders in that Quality Assurance and Regulatory competencies are important, they represent more advanced topics and may not have the same impact for the typical pathologist as the areas identified by the work group as highest priority.
Six specific competencies within the 3 areas were identified as a priority. In addition, 1 competency in the Basic Genomics Concepts subject area was identified as integral to an understanding of genomic medicine, “Define targeted gene panel, whole genome sequencing, whole exome and whole transcriptome sequencing.” Education in the remaining 5 Basic Genomics Concepts was also considered critical but this content could be incorporated into other molecular pathology curricula as opposed to being specifically related to genomics education. The final prioritized curriculum is shown in Table 2.
A prioritized genomic curriculum for practicing pathologists without preexisting expertise in the subject has been developed. The curriculum identifies knowledge and skills that will enhance the pathologist's ability to contribute to the health care team. The curriculum may be used by individual pathologists to assess their own learning needs and seek out educational opportunities. The curriculum may also be used as a foundation to guide development of educational content and learning tools.
The curriculum is not designed to make every pathologist an expert in genomic medicine but to begin helping every pathologist gain the knowledge and skills necessary for future success in this area. It is anticipated that pathologists who subspecialize in molecular genetic pathology will continue to fulfill the role of expert. While other curricula have been created for trainees, this report represents the first attempt to generate a curriculum for the typical practicing pathologists with a focus on transforming the specialty.1,16,17
In comparison with the Stanford open curriculum or the Training Residents in Genomics Working Group curriculum, similar themes emerge.7 These curricula, however, have broader learning objectives, whereas the curriculum described in this article serves as a road map for immediate prioritization of competencies. For example, the prioritized competencies do not include complex technical details related to next-generation sequencing. Instead, the focus is on tasks familiar to all pathologists, such as sample acquisition and communication with other clinicians.
A strength of this curriculum is the developmental approach including the use of a modified Delphi method to better enable unbiased consensus and the incorporation of anonymous survey-based data from genomics experts outside the work group. Use of a content validity index also allowed for a structured assessment of the survey data. One weakness is that the curriculum does not specifically incorporate bioinformatics, which is an important aspect of genomic pathology. Given the evolving nature of bioinformatics in the practice of the typical pathologist and the existing CAP Informatics Work Group, the Genomics Work Group chose not to include bioinformatics competencies at this time. Future iterations should incorporate specific learning needs related to bioinformatics.
As the field of genomics continues to evolve, one challenge will be in keeping the educational material as well as the educators of this curriculum up-to-date. The curriculum should be considered dynamic and should be reevaluated as needs change. Furthermore, this curriculum was developed by genomic experts and may require tweaking as implemented for practicing pathologists. In its oversight role, the CAP Council on Education will determine when in the future the curriculum needs to be reevaluated and/or refined.
While the development of a prioritized list of competencies for practicing pathologists is a step toward helping place pathologists at the forefront of genomic medicine, creating a curriculum is only a first step. Courses and workshops as well as examinations to assess efficacy are also needed, and as this curriculum and others are implemented, it will be important to assess the impact on quality of care and outcomes. Toward implementing the curriculum, the CAP Council on Education in conjunction with the Personalized Healthcare Committee has assembled a group of 5 subject matter experts in genomics education. Four Webinars addressing the highest priority competencies are planned for 2014. The Webinars will be focused on content that is immediately relevant to pathology practice. The Webinars will be archived on the CAP Web site, and continuing medical education credit as well as self-assessment modules will ultimately be provided. The CAP efforts to develop learning activities to fulfill the curriculum will continue into 2015 and beyond. CAP Learning will also identify other learning opportunities that are already available and make those opportunities known. Furthermore, the Curriculum Committee will look to incorporate topics that address the genomics curriculum into future CAP annual meetings as appropriate. In addition, the teaching of genomic pathology must coincide with the development of laboratory standards, consensus recommendations, cost analyses, and clinical trials. Pathologists need to take the lead in genomic medicine and work collaboratively with other specialties to expand genomics education. This curriculum will help assist in this endeavor.
The authors have no relevant financial interest in the products or companies described in this article.