Medical Genetics and Genomics Milestones The Accreditation Council for Graduate Medical Education Second Revision: August 2019 First Revision: July 2013 Medical Genetics and Genomics Milestones The Milestones are designed only for use in evaluation of residents in the context of their participation in ACGME-accredited residency or fellowship programs. The Milestones provide a framework for the assessment of the development of the resident in key dimensions of the elements of physician competency in a specialty or subspecialty. They neither represent the entirety of the dimensions of the six domains of physician competency, nor are they designed to be relevant in any other context. ©2019 Accreditation Council for Graduate Medical Education (ACGME) All rights reserved except the copyright owners grant third parties the right to use the Medical Genetics and Genomics Milestones on a non-exclusive basis for educational purposes. ii Medical Genetics and Genomics Milestones Work Group Miriam Blitzer, PhD Kate Hatlak, MSEd Michelle Cichon, MS Susan Klugman, MD Kristina Cusmano-Ozog, MD Melissa Lah, MD Katrina Dipple, MD, PhD Nathaniel Robin, MD Laura Edgar, EdD, CAE Brian Shayota, MD, MPH Paul Hillman, MD, PhD Joan Stoler, MD Fuki Hisama, MD V. Reid Sutton, MD The ACGME would like to thank the following organizations for their continued support in the development of the Milestones: American Board of Medical Genetics and Genomics Association of Professors of Human and Medical Genetics ACGME Review Committee for Medical Genetics and Genomics ©2019 Accreditation Council for Graduate Medical Education (ACGME) All rights reserved except the copyright owners grant third parties the right to use the Medical Genetics and Genomics Milestones on a non-exclusive basis for educational purposes. iii Understanding Milestone Levels and Reporting This document presents Milestones designed for programs to use in semi-annual review of resident performance and reporting to the ACGME. Milestones are knowledge, skills, attitudes, and other attributes for each of the ACGME competencies organized in a developmental framework. The narrative descriptions are targets for resident performance throughout their training. For each reporting period, the Clinical Competency Committee will review the completed evaluations to select the milestone levels that best describe each resident’s current performance, abilities and attributes for each subcompetency. Milestones are arranged into levels. Tracking from Level 1 to Level 5 is synonymous with moving from novice to expert resident in the specialty. These levels do not correspond with post-graduate year of education. Depending on previous experience, a junior resident may achieve higher levels early in training just as a senior resident may be at a lower level later in training. There is no predetermined timing for a resident to attain any particular level. A resident may also regress in their milestones. This may happen for many reasons, such as over scoring in the previous meeting, disjointed experience in a particular procedure, or significant act by the resident. Selection of a level implies that the resident substantially demonstrates the milestones in that level, as well as those in lower levels (see the diagram on page v). ©2019 Accreditation Council for Graduate Medical Education (ACGME) All rights reserved except the copyright owners grant third parties the right to use the Medical Genetics and Genomics Milestones on a non-exclusive basis for educational purposes. iv Additional Notes For residents who have insufficient data/evaluations to assess, please choose “not yet assessable.” Level 4 is designed as a graduation goal and does not represent a graduation requirement. Making decisions about readiness for graduation and unsupervised practice is the purview of the residency program director. Furthermore, Milestones 2.0 include revisions and changes that preclude using Milestones as a sole assessment in high stakes decisions (i.e. determination of eligibility for certification or credentialing). Level 5 is designed to represent an expert resident whose achievements in a subcompetency are greater than the expectation. Milestones are primarily designed for formative, developmental purposes to support continuous quality improvement for individual learners, training programs, and the specialty. ACGME and its partners will continue to evaluate and perform research on the Milestones 2.0 sets to assess their impact and value. Examples are provided for some milestones within this document. Please note that the examples are not the required element or outcome; they are provided as a way to share the intent of the element. Some milestone descriptions include statements about performing independently. These activities must occur in conformity to the ACGME supervision guidelines, as well as to institutional and program policies. For example, a resident who performs a procedure independently must, at a minimum, be supervised through oversight. A Supplemental Guide is also available. This Guide provides the intent of each subcompetency, examples for each level, assessment methods or tools, and other resources that are available. This Guide, like examples contained within the Milestones, was designed to assist the program director and Clinical Competency Committee and is not meant to demonstrate any required element or outcome. Additional resources are available on the Milestones section of the ACGME website. Follow the links under “What We Do” at www.acgme.org. ©2019 Accreditation Council for Graduate Medical Education (ACGME) All rights reserved except the copyright owners grant third parties the right to use the Medical Genetics and Genomics Milestones on a non-exclusive basis for educational purposes. v The diagram below presents an example set of milestones for one sub-competency in the same format as the ACGME Report Worksheet. For each reporting period, a resident’s performance on the milestones for each sub-competency will be indicated by selecting the level of milestones that best describes that resident’s performance in relation to those milestones. Selecting a response box in the Selecting a response box on the line in middle of a level implies that between levels indicates that milestones milestones in that level and in lower in lower levels have been substantially levels have been substantially demonstrated as well as some demonstrated. milestones in the higher level(s). ©2019 Accreditation Council for Graduate Medical Education (ACGME) All rights reserved except the copyright owners grant third parties the right to use the Medical Genetics and Genomics Milestones on a non-exclusive basis for educational purposes. vi Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet Patient Care 1: History and Physical Examination Level 1 Level 2 Level 3 Level 4 Level 5 Takes a general medical Takes a basic genetics- Takes a genetics-focused Takes a comprehensive Makes a nationally and family history focused history and history with some genetic history with recognized contribution completes a basic pertinent positive and pertinent positive and by describing a new pedigree negative findings; negative findings; genetic disorder or completes an accurate integrates the history expanding the phenotype pedigree with other data to of a known syndrome or disorder develop a differential diagnosis Completes a general Completes a basic Completes a genetics- Identifies and accurately physical examination genetics-focused physical focused physical describes phenotypic examination; identifies examination; identifies features and/or normal and abnormal and accurately describes anomalies using phenotypic features common phenotypic standardized and/or anomalies features and/or nomenclature; anomalies; recognizes recognizes complex common syndromes or syndromes or disorders disorders Comments: Not Yet Completed Level 1 Not Yet Assessable ©2019 Accreditation Council for Graduate Medical Education (ACGME) All rights reserved except the copyright owners grant third parties the right to use the Medical Genetics and Genomics Milestones on a non-exclusive basis for educational purposes. 1 Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet Patient Care 2: Selecting Tests, Interpreting Results, and Management of Genetic Conditions Level 1 Level 2 Level 3 Level 4 Level 5 Identifies the variety of Identifies basic testing Identifies strengths and Selects and prioritizes testing modalities for options for common limitations of testing testing options across a genetic conditions genetic disorders methodologies in order to broad spectrum of select first tier tests complex disorders and inheritance patterns/ Contributes to the mechanisms knowledge base for the refinement of ambiguous Identifies the Identifies resources to Uses resources to Uses resources to test results components of the facilitate interpretation of interpret diagnostic test interpret ambiguous test genetics test result positive, negative, and results in the context of results in the context of uncertain test results the phenotype the phenotype Recognizes the Identifies resources and Implements treatment Implements treatment Creates evidence-based availability of intervention guidelines for treatment and/or surveillance plans and/or surveillance guidelines for for some genetic and management of for common genetic plans for complex management conditions common genetic conditions genetic conditions conditions Comments: Not Yet Completed