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Molecular Pathology Education: A Suggested Framework for Primary Care Resident Training in Genomic Medicine

2022; Elsevier BV; Volume: 24; Issue: 5 Linguagem: Inglês

10.1016/j.jmoldx.2021.12.013

1943-7811

Maria E. Arcila, Anthony N. Snow, Yassmine Akkari, Devon Chabot‐Richards, Preeti Pancholi, Laura J. Tafe,

Genomics and Rare Diseases

Developments in genomics are profoundly influencing medical practice. With increasing use of genetic and genomic testing across every aspect of the health care continuum, patients and their families are increasingly turning to primary care physicians (PCPs) for discussion and advice regarding tests, implications, and results. Yet, with the rapid growth of information, technology, and applications, PCPs are finding it challenging to fill the gaps in knowledge and support the growing needs of their patients. A critical component in expanding PCP genomic literacy lies in the education of physicians in training and in practice. Although a framework for developing physician competencies in genomics has already been developed, the Association for Molecular Pathology is uniquely situated to actively utilize the skills of its members to engage and support PCPs in this effort. This report provides an overview and a suggested basic teaching framework, which can be used by molecular professionals in their individual institutions as a starting point for educational outreach. Developments in genomics are profoundly influencing medical practice. With increasing use of genetic and genomic testing across every aspect of the health care continuum, patients and their families are increasingly turning to primary care physicians (PCPs) for discussion and advice regarding tests, implications, and results. Yet, with the rapid growth of information, technology, and applications, PCPs are finding it challenging to fill the gaps in knowledge and support the growing needs of their patients. A critical component in expanding PCP genomic literacy lies in the education of physicians in training and in practice. Although a framework for developing physician competencies in genomics has already been developed, the Association for Molecular Pathology is uniquely situated to actively utilize the skills of its members to engage and support PCPs in this effort. This report provides an overview and a suggested basic teaching framework, which can be used by molecular professionals in their individual institutions as a starting point for educational outreach. The field of genomics is evolving at a phenomenal speed, and has advanced from a period of rapid discovery to the adoption of a wide range of clinical applications that influence every aspect of the health care continuum. With broader use of genetic and genomic testing beyond the traditional specialties of medical genetics, pediatric genetics, and obstetrics, enhanced training of providers across all specialties is now warranted. Among them, the rapid engagement of primary care physicians (PCPs) is of pivotal importance because of their central role in patient care. PCPs are specialists in family medicine, internal medicine, or pediatrics, who provide definitive care to patients at the point of first contact when entering the health care system and take continuing responsibility for providing comprehensive care. As such, and through their ongoing relationships with patients of all ages and their families, PCPs are in a unique position to identify potential needs, support and educate patients, and facilitate the proper use of genomic medicine in a safe and effective manner. In daily practice, PCPs are increasingly called on to identify, understand, and provide basic information related to the full spectrum of genomic applications. Some relevant examples include the identification of individuals with a potential undiagnosed genetic condition, referral to expert practitioners and services, assessment of risk and management of medical conditions influenced by genetic factors, and patient education about genetic variation, testing, and meaning of results (Figure 1). During the past few years, several commentaries and editorials have been published that voice concerns about the rapidity at which genomic medicine is entering clinical practice and the challenge of the medical education system in keeping up with the speed of adoption. Recent surveys of practicing physicians have made it clear that there are large gaps in knowledge that are difficult to fill, as physicians report that they are not sufficiently confident in their ability to interpret or use genomic data.1Crellin E. McClaren B. Nisselle A. Best S. Gaff C. Metcalfe S. 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Furthermore, keeping up with the ever-increasing applications across all of their patient populations is difficult and time consuming. Additional concerns are associated with the number and type of tests available. Genomic medicine utilizes a wide range of new technology. Understanding this technology and the implications to the validity of results adds higher levels of difficulty to the incorporation of genomic medicine into daily practice. Direct-to-consumer genomic testing has also expanded rapidly. Both the number of companies offering direct-to-consumer testing and the types of testing available continue to increase. Although some companies offer testing for well-established genetic markers of disease risk or pharmacogenomics, others are marketed for entertainment purposes and include information of uncertain validity, such as musical ability or optimal diet. As consumers may not have the knowledge to critically evaluate the use and application of these tests, they will likely turn to their primary care physicians for guidance in interpreting results.15Horton R. Crawford G. Freeman L. Fenwick A. Wright C.F. Lucassen A. Direct-to-consumer genetic testing.BMJ. 2019; 367: l5688Crossref Scopus (39) Google Scholar, 16Hudson K. Javitt G. Burke W. Byers P. American Society of Human Genetics social issues CASHG statement∗ on direct-to-consumer genetic testing in the United States.Obstet Gynecol. 2007; 110: 1392-1395Crossref PubMed Scopus (97) Google Scholar, 17Allyse M.A. Robinson D.H. Ferber M.J. Sharp R.R. Direct-to-consumer testing 2.0: emerging models of direct-to-consumer genetic testing.Mayo Clin Proc. 2018; 93: 113-120Abstract Full Text Full Text PDF PubMed Scopus (80) Google Scholar, 18Dinulos M.B.P. Vallee S.E. The impact of direct-to-consumer genetic testing on patient and provider.Clin Lab Med. 2020; 40: 61-67Abstract Full Text Full Text PDF PubMed Scopus (6) Google Scholar A long-term solution to expanding PCP genomic literacy lies in the education of physicians in training. In the last decade, several genomic medicine initiatives have surfaced, aimed at increasing genomic knowledge and readiness for current and future providers. Educational approaches are diverse, encompassing immersive and experiential learning programs, interdisciplinary and interprofessional education opportunities,19Charon R. The patient-physician relationship: narrative medicine: a model for empathy, reflection, profession, and trust.JAMA. 2001; 286: 1897-1902Crossref PubMed Scopus (1183) Google Scholar, 20Dasgupta S. Common threads: reflective practice connecting medical genetics concepts across an integrated curriculum.Med Sci Educ. 2016; 26: 281-282Crossref Scopus (2) Google Scholar, 21Dasgupta S. 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Although the content, delivery, and target audience vary broadly depending on the program, genomic medicine training requires a solid, standardized, basic structure to enable further ongoing, career-long learning ability. To this end, several entities, such as the Association of Professors of Human and Medical Genetics and the Association of American Medical Colleges, have adopted some of the core competencies established by the Accreditation Council for Graduate Medical Education to shape curriculum content and structure genomics-related learning (Association of Professors of Human and Medical Genetics, , last accessed October 13, 2021). In 2013, the Inter-Society Coordinating Committee for Physician Education in Genomics generated a flexible framework that could be used by various professional organizations and medical specialties, including primary care, for developing physician competencies in genomics.31Korf B.R. Berry A.B. Limson M. Marian A.J. Murray M.F. O'Rourke P.P. Passamani E.R. Relling M.V. Tooker J. Tsongalis G.J. Rodriguez L.L. Framework for development of physician competencies in genomic medicine: report of the competencies working group of the inter-society coordinating committee for physician education in genomics.Genet Med. 2014; 16: 804-809Abstract Full Text Full Text PDF PubMed Scopus (103) Google Scholar With basic competency frameworks in place, important next steps being considered across institutions and individual professional societies are the development and customization of competencies across areas of practice. An even larger task is determining how to broadly implement and disseminate the genomic information while keeping pace with the rapid evolution in the field and supporting the specific needs of each program and individual learners. For primary care and other physicians in training, an interdisciplinary/interprofessional educational approach constitutes a highly suitable modality to allow interactive and dynamic learning. The Association for Molecular Pathology is uniquely situated to actively utilize the skills of its members to engage and educate trainees under this model. Recognizing that a combined effort from both primary care and molecular professionals is required to formally establish the specific set of competencies for the field, the current work provides a basic overview of high-yield competency areas that may be addressed by molecular pathologists at their individual institutions, including basics of testing, methods, and implications, key features of test reports, and common applications of genomic medicine that may generate questions for PCPs. Given the nature of the field, the content of this overview is not meant to be exhaustive but could be used as a starting point for educational outreach. A list of online resources, both basic and advanced, has been included in Supplemental Table S1, which users may find useful for ongoing education. Each section has clinical vignettes as basic examples of a valuable teaching tool that molecular professionals may use to provide context for the principles being taught. Molecular professionals are encouraged to offer their expertise to primary care training programs to facilitate the education of residents in accordance with curriculum guidelines and requirements for the residency. The curriculum should be established and implemented as part of a multidisciplinary approach, coordinated by the primary care program, and incorporating several teaching modalities to promote and meet educational competencies, as defined by the Accreditation Council for Graduate Medical Education. Both formal and informal teaching opportunities should be offered by molecular professionals to provide longitudinal experience throughout the residency training. Participation in structured didactic lectures, conferences, journal clubs, and workshops, for example, may be utilized to cover broad fundamental concepts in medical genetics and molecular diagnostics. Individual teaching, small group discussions, and/or other personalized teaching experiences should be incorporated to promote interaction and familiarity with experts in the field, provide more in-depth teaching of relevant and emerging topics, and facilitate level-specific interventions for the individual learners. Web-based resources may be used as teaching tools to supplement instruction. Clinical trainees should be encouraged to contact molecular professionals with questions regarding genomic testing and applications. Active participation of genomics professionals should also be sought for tumor boards, conferences, and meetings where a genetic diagnosis is being considered. Elective rotations in medical genetics and molecular diagnostics are highly desirable to facilitate dedicated immersion learning opportunities, including potential and appropriate research projects with a genetic focus. Regardless of the type of teaching approach, it is recommended that instruction incorporate problem-based learning to promote active engagement and emphasize critical thinking. Considering the increasing role of genetics in all areas of medicine, teaching should also promote skills in sourcing credible genetic and technical information. Emphasis on evidence-based medical applications and clinical guidelines for conditions commonly seen in practice is critical to enabling appropriate use of genetic testing and suitable referral patterns. Although a comprehensive outline of topics that should be covered in a genomics curriculum for each primary care subspecialty is outside the purview of this document, five general areas of intervention that molecular professionals can use as a starting point for organizing teaching activities in their respective institutions are highlighted here. On the basis of the review of current literature, these areas have been identified by primary care practitioners as increasingly needed in daily practice.13Carroll J.C. Allanson J. Morrison S. Miller F.A. Wilson B.J. Permaul J.A. Telner D. Informing integration of genomic medicine into primary care: an assessment of current practice, attitudes, and desired resources.Front Genet. 2019; 10: 1189Crossref Scopus (34) Google Scholar,32Beste L.A. Glorioso T.J. Ho P.M. Au D.H. Kirsh S.R. Todd-Stenberg J. Chang M.F. Dominitz J.A. Baron A.E. Ross D. 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A sample template that could be utilized to introduce and organize the topics in Supplemental Table S2 is also included. The degree to which primary care providers will directly interact with genomic technologies varies widely, depending on the individual and practice setting. Activities may range from fielding questions from patients about direct-to-consumer testing, to ordering and interpreting tests, considering implementation of point-of-care testing, and assessing recurrence risk. Learning related to genomic technologies has been identified as an area of interest by primary care providers.13Carroll J.C. Allanson J. Morrison S. Miller F.A. Wilson B.J. Permaul J.A. Telner D. Informing integration of genomic medicine into primary care: an assessment of current practice, attitudes, and desired resources.Front Genet. 2019; 10: 1189Crossref Scopus (34) Google Scholar Knowledge related to this subject is essential to performing practice tasks, such as test ordering, test interpretation, and patient education.51Hull L.E. Gold N.B. Armstrong K.A. Revisiting the roles of primary care clinicians in genetic medicine.JAMA. 2020; 324: 1607-1608Crossref Scopus (8) Google Scholar In addition, education about genomic technologies is necessary to meet American Academy of Family Physicians recommendations for resident competency in educating patients about genetic testing that may be available for conditions seen commonly in primary care practice (American Academy of Family Physicians, , last accessed October 13, 2021). Essential to meeting this need is consideration of pertinent knowledge and available resources to facilitate learning. With the rapid growth of understanding of the genetic basis of disease and the equally rapid development of new technologies for analysis, navigating this ever-growing and complex field can be challenging. A comprehensive review of these methods is outside the scope of this article. However, a brief primer of technological concepts is included in Supplemental Appendix S1. The goal for a primary care provider is not to be a subspecialty expert in all aspects of testing, but to develop an understanding of general concepts, to know how to access specific information when required by an individual patient encounter, or to appreciate the need for an appropriate referral. Recommended topics are briefly discussed below and highlighted in Table 1. A basic knowledge of the structure and function of a gene and the central dogma of molecular biology are foundational to understanding genomic testing. Equally vital are the definitions and distinctions between the types of genetic alterations associated with health and disease (eg, mutations, structural rearrangements, expression, and epigenetic modulation). Other important elements require the understanding that aspects of testing are as diverse as the clinical entities that indicate them. Tests are designed with specific strategies and genomic lesions in mind. Tests can be performed to determine a genetic cause for a disease, identify an infectious agent, predict response to therapy, inform prognosis, assess risk, and predict likelihood of passing a genetic variant to offspring. Therefore, many variables affect appropriateness of molecular testing methods in clinical context, including, but not limited to, variant type, analytical sensitivity, starting material, quantitation capability, and the degree of multiplexing (how many genetic loci are simultaneously interrogated). A suggested way for molecular professionals to focus learning of this complex topic is to contextualize it using a set of clinical examples. A general template that is customizable to myriad practice settings may be generated and used for future training by a trainee or practicing PCP.Table 1Recommended Educational TopicsGenomic technology•Outline general structure and function of a gene•Discuss the diversity of molecular alterations, including lesions that directly affect the coding or structure of a gene, its expression, or its translation into a protein•Discuss the differences in germline vs somatic alterations and implications thereof•Discuss the role of molecular testing in the identification or characterization of an infectious organism•Discuss genomic testing methods used to detect lesions of interest, including associated strengths and limitations•Consider pre-analytic factors, including identifying available laboratories and sample submission•Consider postanalytic considerations, including available resources for delivering results and appropriate follow-upPharmacogenetics/pharmacogenomics•Define the field of pharmacogenetics and pharmacogenomics•Discus basics of pharmacogenetic variability•Define common pharmacogenetic terminology: allele,