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

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).

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.

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).

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

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 Level 1 Not Yet Assessable

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Patient Care 3: Pre- and Post-Test Genetic Counseling

Level 1 Level 2 Level 3 Level 4 Level 5 Participates in pre-test Explains the rationale for Conveys the impact and Clearly conveys the Participates in the counseling the recommended testing limitations of disorder- impact and limitations of development of specific targeted testing complex untargeted professional practice while obtaining informed testing while obtaining guidelines regarding consent informed consent testing and return of results

Participates in post-test Explains the results of the Conveys the impact and Conveys the impact and counseling test limitations of diagnostic limitations of and non-diagnostic unexpected and results ambiguous results

Comments: Not Yet Completed Level 1 Not Yet Assessable

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Medical Knowledge 1: Foundations of Genetics and Genomics

Level 1 Level 2 Level 3 Level 4 Level 5 Demonstrates basic Applies knowledge of Applies advanced Applies advanced Contributes to peer- medical knowledge of embryology, inheritance, knowledge of embryology, knowledge of reviewed resources embryology, inheritance, and genetic mechanism inheritance, and genetic embryology, addressing genetic and genetic mechanism of disease to identify a mechanism of disease inheritance, and genetic mechanism of disease of disease differential diagnosis to make a diagnosis mechanism of disease to diagnostic and therapeutic interventions Demonstrates basic Applies knowledge of Applies advanced Recognized as a national medical knowledge of gene and genome knowledge of gene and Applies advanced expert in diagnosis and gene and genome structure and function to genome structure and knowledge of gene and management of genetic structure and function identify a differential function to make a genome structure and disease diagnosis diagnosis function to diagnostic and therapeutic interventions

Comments: Not Yet Completed Level 1 Not Yet Assessable

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Medical Knowledge 2: Clinical Genetics and Genomics

Level 1 Level 2 Level 3 Level 4 Level 5 Recognizes syndromic Identifies syndromic and Demonstrates knowledge Applies knowledge of Serves as an expert and non-syndromic non-syndromic etiologies of syndromic and non- syndromic and non- resource for syndromic etiologies syndromic etiologies and syndromic etiologies to and/or non-syndromic the impact on diagnosis diagnosis and etiologies and management management

Recognizes that Identifies the changes of Demonstrates knowledge Applies knowledge of Contributes to peer- phenotypes evolve phenotypes across the of the changes in the changes in reviewed resources across the lifespan lifespan phenotypes across the phenotypes across the addressing natural history lifespan and how it lifespan and how it of genetic disease impacts diagnosis and impacts diagnosis and management management

Comments: Not Yet Completed Level 1 Not Yet Assessable

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Medical Knowledge 3: Clinical Reasoning

Level 1 Level 2 Level 3 Level 4 Level 5 Demonstrates a basic Demonstrates clinical Synthesizes information Independently framework for clinical reasoning to determine to inform clinical synthesizes reasoning relevant information reasoning, with information to inform assistance clinical reasoning in Develops a novel complex cases approach for the assessment of complex Identifies appropriate Selects relevant Seeks and integrates Independently seeks cases resources to inform resources based on evidence-based out, analyzes and clinical reasoning scenario to inform information to inform applies relevant decisions diagnostic decision original research to making in complex diagnostic decision cases, with assistance making in complex clinical cases

Comments: Not Yet Completed Level 1 Not Yet Assessable

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Systems-Based Practice 1: Patient Safety and Quality Improvement

Level 1 Level 2 Level 3 Level 4 Level 5 Demonstrates Identifies system factors Participates in analysis of Conducts analysis of Actively engages teams knowledge of common that lead to patient safety patient safety events patient safety events and processes to modify patient safety events events (simulated or actual) and offers error systems to prevent prevention strategies patient safety events (simulated or actual)

Demonstrates Reports patient safety Participates in disclosure Discloses patient safety Role models or mentors knowledge of how to events through of patient safety events to events to patients and others in the disclosure of report patient safety institutional reporting patients and families families (simulated or patient safety events events systems (simulated or (simulated or actual) actual) actual)

Demonstrates Describes local Participates in local Demonstrates the skills Creates, implements, and knowledge of basic (institutional) quality (institutional) quality required to identify, assesses quality quality improvement improvement initiatives improvement initiatives develop, implement, improvement initiatives at methodologies and and analyze a quality the institutional or metrics improvement project community (state/federal) level

Comments: Not Yet Completed Level 1

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Systems-Based Practice 2: System Navigation for Patient-Centered Care

Level 1 Level 2 Level 3 Level 4 Level 5 Demonstrates Coordinates care of Coordinates care of Role models effective Analyzes the process of knowledge of care patients in routine clinical patients in complex coordination of patient- care coordination and coordination situations effectively using clinical situations centered care among leads in the design and the roles of the effectively using the roles different disciplines and implementation of interprofessional teams, of the interprofessional specialties including improvements including non-physician teams referrals and testing patient caregivers

Identifies key elements Performs safe and Performs safe and Role models and Improves quality of for safe and effective effective transitions of effective transitions of advocates for safe and transitions of care within transitions of care and care/hand-offs in routine care/hand-offs in complex effective transitions of and across health care hand-offs clinical situations clinical situations care/hand-offs within delivery systems to and across health care optimize patient outcomes delivery systems including outpatient settings, referrals, and testing

Demonstrates Identifies specific Uses local resources Participates in changing Leads innovations and knowledge of population population and effectively to meet the and adapting practice to advocates for populations and community health community health needs needs of a patient provide for the needs of and communities with needs and disparities and inequities for the local population and specific populations health care inequities at population community including advocating for the state or federal level a patient’s genetic testing coverage

Comments: Not Yet Completed Level 1

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Systems-Based Practice 3: Physician Role in Health Care Systems

Level 1 Level 2 Level 3 Level 4 Level 5 Identifies key Describes how Discusses how individual Manages various Advocates for or leads components of the components of a complex practice affects the components of the systems change that complex health care health care system are broader system (e.g., complex health care enhances high-value, system (e.g., hospital, interrelated, and how this access to genetic testing system to provide efficient, and effective skilled nursing facility, impacts patient care and treatments, testing efficient and effective patient care and transition finance, personnel, advocacy) patient care and of care technology) transition of care

Describes basic health Delivers care with Engages with patients in Advocates for patient Participates in health payment systems (e.g., consideration of each shared decision making, care needs (e.g., policy advocacy activities government, private, patient’s payment model often informed by each community resources, public, uninsured care) (e.g., insurance type) and patient’s payment models patient assistance and practice models access to genetic testing resources) with or formula consideration of the limitations of each patient’s payment model, including genetic testing through research

Identifies basic Demonstrates use of Describes core Analyzes individual Educates others to knowledge for effective information technology administrative knowledge practice patterns and prepare them for transition to practice required for medical needed for transition to professional transition to practice (e.g., information practice (e.g., electronic practice (e.g., contract requirements in technology, legal, billing health record, negotiations, malpractice preparation for practice and coding, financial, documentation required insurance, government personnel) for billing and coding) regulation, compliance)

Comments: Not Yet Completed Level 1

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Practice-Based Learning and Improvement 1: Evidence-Based and Informed Practice

Level 1 Level 2 Level 3 Level 4 Level 5 Demonstrates how to Articulates clinical Locates and applies the Critically appraises and Mentors others to critically access and use available questions and elicits best available evidence, applies evidence even appraise and apply evidence, and patient preferences and integrated with patient in the face of evidence for complex incorporate patient values in order to guide preference, to the care of uncertainty and patients; and/or preferences and values evidence-based care complex patients conflicting evidence to participates in the in order to take care of a guide care, tailored to development of guidelines routine patient the individual patient

Comments: Not Yet Completed Level 1

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Practice-Based Learning and Improvement 2: Reflective Practice and Commitment to Personal Growth

Level 1 Level 2 Level 3 Level 4 Level 5 Accepts responsibility for Demonstrates openness Seeks performance data Seeks performance Serves as a role model in personal and to performance data episodically, with data consistently with seeking performance data professional (feedback and other adaptability and humility adaptability and humility with adaptability and development by input) in order to inform humility establishing goals goals

Identifies the factors Analyzes and reflects on Analyzes, reflects on, and Challenges Mentors others on which contribute to the factors which institutes behavioral assumptions and reflective practice gap(s) between contribute to gap(s) change(s) to narrow the considers alternatives in expectations and actual between expectations and gap(s) between narrowing the gap(s) performance actual performance expectations and actual between expectations performance and actual performance

Actively seeks Designs and implements Independently creates Uses performance data Facilitates the design and opportunities to improve a learning plan, with and implements a to measure the implementing learning prompting learning plan effectiveness of the plans for others learning plan and when necessary, improves it

Comments: Not Yet Completed Level 1

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Professionalism 1: Professional Behavior and Ethical Principles

Level 1 Level 2 Level 3 Level 4 Level 5 Demonstrates Demonstrates Demonstrates Demonstrates Coaches others when compassion, sensitivity, compassion, sensitivity, compassion, sensitivity, compassion, sensitivity, their behavior fails to honesty and integrity, honesty and integrity, and honesty, and integrity in honesty, and integrity meet professional and identifies potential takes responsibility for complex/stressful and serves as a role expectations triggers for own professionalism situations model to others professionalism lapses lapses

Demonstrates Analyzes straightforward Recognizes need to seek Recognizes and uses Identifies and seeks to knowledge of the ethical situations using ethical help in managing and appropriate resources address system-level principles underlying principles resolving complex ethical for managing and factors that induce or patient care situations resolving ethical exacerbate ethical dilemmas as needed problems or impede their resolution

Demonstrates basic Identifies different types Identifies resources for Demonstrates knowledge of conflict of of conflicts of interest, managing and resolving consistently interest knows guidelines for conflicts of interest professional behavior interactions with vendors with regard to conflicts of interest relevant to presentations, publishing, consulting, and service

Comments: Not Yet Completed Level 1

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Professionalism 2: Accountability/Conscientiousness

Level 1 Level 2 Level 3 Level 4 Level 5 Takes responsibility for Performs tasks and Performs tasks and failure to complete tasks responsibilities in a timely responsibilities in a timely and responsibilities, manner with appropriate manner with appropriate identifies potential attention to detail in attention to detail in contributing factors, and routine situations complex or stressful Recognizes and Volunteers to improve describes strategies for situations addresses situations and takes ownership of ensuring timely task that may impact others’ system outcomes completion in the future ability to complete tasks and responsibilities in a Responds promptly to Recognizes situations Proactively implements timely manner requests or reminders to that may impact his/her strategies to ensure that complete tasks and own ability to complete the needs of patients, responsibilities tasks and responsibilities teams, and systems are in a timely manner met

Recognizes the role of Demonstrates a Sets a standard for Promotes professional appearance, daily professional appearance, appearance, daily appearance, demeanor, demeanor and conduct daily demeanor, and demeanor, and conduct and conduct in their in the role of a conduct as a professional peers and associates professional

Comments: Not Yet Completed Level 1

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Professionalism 3: Self-Awareness and Help-Seeking

Level 1 Level 2 Level 3 Level 4 Level 5 Recognizes status of Independently recognizes With assistance, Independently develops Coaches others when personal and status of personal and proposes a plan to a plan to optimize emotional responses or professional well-being, professional well-being optimize personal and personal and limitations in with assistance professional well-being professional well-being knowledge/skills do not meet professional expectations

Recognizes limits in the Independently recognizes With assistance, Independently develops knowledge/skills of self limits in the knowledge/ proposes a plan to a plan to remediate or or team, with assistance skills of self or team and remediate or improve improve limits in the demonstrates appropriate limits in the knowledge/ knowledge/skills of self help-seeking behaviors skills of self or team or team

Comments: Not Yet Completed Level 1

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Interpersonal and Communication Skills 1: Patient and Family-Centered Communication

Level 1 Level 2 Level 3 Level 4 Level 5 Uses language and Establishes a therapeutic Establishes a therapeutic Establishes therapeutic Mentors others in nonverbal behavior to relationship in relationship relationships, with situational awareness and demonstrate respect and straightforward in challenging patient attention to critical self-reflection to establish rapport encounters using active encounters patient/family concerns consistently develop listening and clear and context, regardless positive therapeutic language of complexity relationships

Identifies common Identifies complex When prompted, reflects Recognizes personal Role models self- barriers to effective barriers to effective on personal biases while biases while attempting awareness practice while communication while communication attempting to minimize to proactively minimize identifying teaching a accurately communication barriers communication barriers contextual approach to communicating own role minimize communication within the health care barriers system

Identifies the need to Organizes and initiates With guidance, sensitively Uses shared decision Role models shared adjust communication communication with and compassionately making to align decision making in strategies based on patient/family by delivers medical patient/family values, patient/family assessment of introducing stakeholders, information, elicits goals, and preferences communication including patient/family setting the agenda, patient/family values, with treatment options those with a high degree expectations and clarifying expectations, goals and preferences, to make a personalized of uncertainty/conflict understanding of their and verifying and acknowledges care plan health status and understanding of the uncertainty and conflict treatment options clinical situation

Comments: Not Yet Completed Level 1

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Interpersonal and Communication Skills 2: Interprofessional and Team Communication

Level 1 Level 2 Level 3 Level 4 Level 5 Respectfully requests a Clearly and concisely Checks own Coordinates Role models flexible consultation requests a consultation understanding of recommendations from communication strategies consultant different members of that value input from all recommendations the health care team to health care team optimize patient care members, resolving conflict when needed

Respectfully receives a Clearly and concisely Checks requestor’s Provides information to consultation request responds to a understanding of the primary care team consultation request recommendations when regarding rationale for providing consultation recommendations

Uses language that Communicates Uses active listening to Models active listening values all members of information effectively adapt communication to other health care the health care team with all health care team style to fit team needs team members members

Comments: Not Yet Completed Level 1

Version 2 Medical Genetics and Genomics Milestones, ACGME Report Worksheet

Interpersonal and Communication Skills 3: Communication within Health Care Systems

Level 1 Level 2 Level 3 Level 4 Level 5 Accurately records Demonstrates organized Concisely reports Communicates clearly, Models feedback to information in the patient diagnostic and diagnostic and concisely, timely, and in improve others’ written record therapeutic reasoning therapeutic reasoning in an organized written communication through notes in the the patient record form, including patient record anticipatory guidance

Safeguards patient Uses documentation Appropriately selects Achieves written or Guides departmental or personal health shortcuts accurately, direct (e.g., telephone, in- verbal communication institutional information appropriately and in a person) and indirect (e.g., (e.g., patient notes, e- communication around timely manner progress notes, text mail) that serves as an policies and procedures messages) forms of example for others to communication based on follow Documents required data context in formats specified by institutional policy

Comments: Not Yet Completed Level 1