Medical Genetics and Genomics

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Patient age

1. ●under 6 months
2. ●under 10
3. ●adult

Setting

1. ●inpatient
2. ●outpatient

Activity observed

1. ●history
2. ●physical

Medical Expert

• □ME 2.1 Ascertain the patient's/family’s understanding of the reason for the visit
• □ME 2.2 Elicit an appropriate history, including prenatal, birth, developmental and medical history, and a three-generation family history
• □ME 2.2 Construct a standardized pedigree
• □ME 2.2 Perform a physical exam, applying an approach to the main elements of a dysmorphology exam
• □ME 2.2 Develop a basic differential diagnosis relevant to the patient’s presentation
• □ME 2.2 Synthesize and organize clinical information for clear and succinct presentation to a supervisor

Communicator

• □COM 1.1 Communicate in a manner that encourages trust, and is characterized by empathy, respect and compassion

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Type of genetic testing

1. ●cytogenetic
2. ●molecular
3. ●other

Medical Expert

• □ME 1.3 Apply knowledge of the principles and broad categories of genetic testing (i.e., single gene vs chromosome–level testing)
• □ME 2.2 Select the appropriate investigation
• □ME 3.1 Describe the advantages and limitations of genetic testing

Communicator

• □COM 3.1 Use plain language and avoid medical jargon
• □COM 3.1 Use strategies to verify and validate the patient’s and/or family’s understanding
• □COM 4.3 Answer questions from the patient and/or family

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Type of genetic testing

1. ●cytogenetic
2. ●molecular
3. ●other

Result

1. ●benign
2. ●pathogenic
3. ●variant of uncertain significance

Medical Expert

• □ME 1.3 Apply knowledge of genetic testing for diagnosis and for assessment of risk for genetic conditions
• □ME 2.2 Categorize results of first line genetic testing as benign, pathogenic or variants of uncertain significance
• □ME 2.2 Describe the direct implications of the results of first line genetic testing

Scholar

• □S 3.4 Integrate best evidence into the interpretation of the results of first line genetic testing

Case description

Feedback provided

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Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Patient demographic

1. ●neonate
2. ●pediatric
3. ●adult

Setting

1. ●clinical
2. ●simulation

Medical Expert

• □ME 2.1 Determine the acuity of the issue and the priorities for patient care
• □ME 2.2 Provide assessment and initial stabilization of ABCs
• □ME 2.2 Perform a history and physical exam relevant to the patient presentation, in a time-effective manner
• □ME 2.4 Develop and implement a plan for initial management

Collaborator

• □COL 1.3 Work effectively with other members of the health care team

Professional

• □P 1.1 Work within personal limits, asking for assistance as needed
• □P 4.1 Maintain capacity for professional clinical performance in stressful situations

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Patient demographic

1. ●maternal-fetal medicine
2. ●neonate
3. ●pediatric
4. ●adult

Setting

1. ●inpatient
2. ●outpatient

Type of observation

1. ●direct
2. ●indirect

Category of main condition

1. ●allergy/immunology
2. ●cardiac
3. ●dermatologic
4. ●developmental/behavioural/psychosocial
5. ●endocrine
6. ●gastrointestinal
7. ●hematology/oncology
8. ●infectious disease
9. ●mental health
10. ●neurology
11. ●otolaryngology/ophthalmology
12. ●renal/genitourinary
13. ●respiratory
14. ●rheumatic/musculoskeletal
15. ●other (write in)

Medical Expert

• □ME 2.2 Elicit a history relevant to the patient presentation
• □ME 2.2 Perform a physical examination
• □ME 2.2 Generate a differential diagnosis
• □ME 2.2 Select and interpret investigations
• □ME 2.2 Synthesize and interpret information from the clinical assessment
• □ME 2.4 Develop and implement a plan for initial management
• □ME 1.7 Seek assistance as needed

Communicator

• □COM 5.1 Document the clinical encounter to convey the clinical assessment and the rationale for decisions and/or recommendations

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Patient demographic

1. ●neonate
2. ●pediatric
3. ●adult

Setting

1. ●inpatient
2. ●outpatient

Type of observation

1. ●direct
2. ●indirect

Category of main condition

1. ●allergy/immunology
2. ●cardiac
3. ●dermatologic
4. ●developmental/behavioural/psychosocial
5. ●endocrine
6. ●gastrointestinal
7. ●hematology/oncology
8. ●infectious disease
9. ●mental health
10. ●neurology
11. ●otolaryngology/ophthalmology
12. ●renal/genitourinary
13. ●respiratory
14. ●rheumatic/musculoskeletal
15. ●other (write in)

Medical Expert

• □ME 2.2 Gather clinical information to assess health status and symptoms
• □ME 2.2 Select and interpret investigations
• □ME 2.2 Assess patients for complications, response to therapy, and evolution of the clinical course
• □ME 2.4 Adapt management plans to the clinical course
• □ME 1.7 Seek assistance as needed

Communicator

• □COM 5.1 Document the clinical encounter to convey the clinical assessment and the rationale for decisions and/or recommendations

Collaborator

• □COL 1.3 Integrate the patient’s perspective and context into the care plan

Health Advocate

• □HA 1.2 Work with the patient and/or family to increase their understanding of their illness and health care needs

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Patient demographic

1. ●neonate
2. ●pediatric
3. ●adult

Setting

1. ●inpatient
2. ●outpatient
3. ●emergency department

Medical Expert

• □ME 4.1 Develop and prioritize well defined questions to be addressed with a consultant or other health care professional
• □ME 2.4 Incorporate consultant recommendations into the diagnostic or treatment plan
• □ME 4.1 Coordinate investigation, treatment, and follow-up plans when multiple physicians and healthcare professionals are involved
• □ME 4.1 Ensure follow-up on the results of consultation requests and/or recommendations

Collaborator

• □COL 1.2 Apply knowledge of the roles and scopes of practice of other health care professionals
• □COL 1.3 Communicate effectively with physicians and other health care professionals

Case description

Feedback provided

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Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Patient demographic

1. ●maternal-fetal medicine
2. ●neonate
3. ●pediatric
4. ●adult

Setting

1. ●inpatient
2. ●outpatient

Communicator

• □COM 3.1 Provide accurate information about the medical condition and plans for investigation and/or management
• □COM 3.1 Use plain language and avoid medical jargon
• □COM 3.1 Use strategies to verify and validate the patient’s and/or family’s understanding
• □COM 4.3 Answer questions from the patient and/or family
• □COM 4.3 Use communication skills and strategies that help the patient and/or family make informed decisions
• □COM 4.1 Communicate in a manner that is respectful, non-judgmental and culturally aware

Health Advocate

• □HA 1.3 Incorporate disease prevention, health promotion, and health surveillance activities into interactions with patients

Case description

Feedback provided

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Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Patient demographic

1. ●maternal-fetal medicine
2. ●neonate
3. ●pediatric
4. ●adult

Setting

1. ●inpatient
2. ●outpatient

Type of documentation

1. ●admission note
2. ●clinic note
3. ●consult report
4. ●discharge letter
5. ●progress note
6. ●other (write in)

Medical Expert

• □ME 2.2 Synthesize and interpret information from the clinical assessment

Communicator

• □COM 5.1 Organize information in appropriate sections
• □COM 5.1 Document all relevant findings and investigations
• □COM 5.1 Convey clinical reasoning and the rationale for decisions
• □COM 5.1 Provide a clear plan for ongoing management
• □COM 5.1 Complete clinical documentation in a timely manner

Case description

Feedback provided

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Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Patient demographic

1. ●neonate
2. ●pediatric
3. ●adult

Observation type

1. ●direct
2. ●indirect

Medical Expert

• □ME 5.2 Use structured communication tools and strategies to enhance patient safety

Collaborator

• □COL 3.2 Summarize and prioritize patient issues providing rationale for key decisions
• □COL 3.2 Provide anticipatory guidance for ongoing management, such as results of outstanding investigations and/or anticipated events/outcomes
• □COL 3.2 Clarify issues with the receiving physician(s), as needed
• □COL 1.3 Integrate the patient’s perspective and context into the care plan

Professional

• □P 1.1 Complete assigned responsibilities in a timely manner

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Setting

1. ●clinical
2. ●simulation

Inborn error of metabolism

1. ●yes
2. ●no

Medical Expert

• □ME 2.2 Elicit a relevant comprehensive medical and family history
• □ME 2.2 Perform a focused physical exam
• □ME 2.2 Develop and prioritize the differential diagnosis
• □ME 2.2 Select, sequence and prioritize investigations
• □ME 2.2 Synthesize clinical, laboratory and/or imaging data to achieve or validate a diagnosis
• □ME 2.4 Develop and implement a management plan
• □ME 4.1 Monitor the evolution of the clinical course and/or the patient’s response to intervention

Communicator

• □COM 5.1 Document the clinical encounter to convey the clinical assessment and the rationale for decisions and/or recommendations

Collaborator

• □COL 2.1 Respond to requests for consultation in a timely manner
• □COL 1.3 Support clinical colleagues in the implementation of a management plan

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Patient demographic

1. ●prenatal
2. ●pediatric
3. ●adult

Category of disorder

1. ●cancer
2. ●congenital anomaly and malformation
3. ●connective tissue
4. ●cardiovascular
5. ●disorder of growth
6. ●endocrine
7. ●genodermatosis
8. ●hematologic
9. ●immunologic
10. ●inborn error of metabolism
11. ●neurodevelopmental
12. ●neurologic
13. ●renal
14. ●skeletal dysplasia
15. ●other (please specify)

Medical Expert

• □ME 2.2 Elicit a relevant comprehensive medical and family history
• □ME 2.2 Perform a physical exam with a focus on dysmorphology, where relevant
• □ME 2.2 Develop and prioritize the differential diagnosis
• □ME 2.2 Select and interpret investigations
• □ME 2.2 Synthesize clinical, laboratory and/or imaging data to achieve or validate a diagnosis
• □ME 2.4 Develop and implement a management plan

Communicator

• □COM 5.1 Document the clinical encounter to convey the clinical assessment and the rationale for decisions and/or recommendations

Leader

• □L 2.1 Demonstrate judicious use of resources

Professional

• □P 1.2 Prepare for the consultation, reviewing clinical information and medical literature as needed

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Patient demographic

1. ●prenatal
2. ●pediatric
3. ●adult

Setting

1. ●clinical
2. ●simulation

Indications for testing

1. ●diagnostic testing
2. ●presymptomatic testing
3. ●predictive testing
4. ●carrier testing
5. ●prenatal testing
6. ●newborn screening
7. ●preimplantation testing

Testing modality

1. ●cytogenetic
2. ●functional assays
3. ●targeted molecular
4. ●genome wide sequencing
5. ●other (write in)

Medical Expert

• □ME 3.2 Describe the indications, possible outcomes and limitations of genetic testing
• □ME 3.2 Describe the ethical, legal and social implications of testing

Communicator

• □COM 3.1 Share information and explanations that are clear and accurate
• □COM 3.1 Verify understanding of information conveyed
• □COM 1.5 Recognize when strong emotions (such as, anger, fear, anxiety, or sadness) are affecting an interaction and respond appropriately
• □COM 4.3 Use communication skills and strategies that help the patient and/or family make informed decisions
• □COM 4.1 Communicate in a manner that is respectful, non-judgmental and culturally aware
• □COM 1.6 Tailor approaches to decision-making to patient capacity, values, and preferences

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Medical Expert

• □ME 2.4 Provide recommendations regarding management and anticipatory guidance regarding the evolution of the condition

Communicator

• □COM 3.1 Convey the personal, medical, reproductive and psychosocial implications of a genetic diagnosis
• □COM 3.1 Share information and explanations that are clear and accurate
• □COM 1.5 Recognize when strong emotions (such as, anger, fear, anxiety, or sadness) are affecting an interaction and respond appropriately
• □COM 4.1 Provide psychological support, either personally or through referral
• □COM 4.1 Communicate in a manner that is respectful, non-judgmental and culturally aware

Health Advocate

• □HA 1.3 Discuss implications for family members including recurrence risk assessment and testing of at-risk relatives (e.g., cascade screening).
• □HA 1.2 Recommend patient and family education resources
• □HA 1.1 Facilitate timely patient access to services and resources

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Setting

1. ●clinical
2. ●simulation

Medical Expert

• □ME 2.1 Ascertain participants’ understanding of the situation and the reason for the encounter

Communicator

• □COM 1.2 Ensure the physical environment is suitable for the nature of the situation (e.g., privacy, safety)
• □COM 4.1 Communicate in a manner that is respectful, non-judgmental and culturally aware
• □COM 3.1 Verify understanding of information conveyed
• □COM 1.5 Recognize when strong emotions (such as, anger, fear, anxiety, or sadness) are affecting an interaction and respond appropriately
• □COM 1.4 Identify, verify and validate non-verbal cues
• □COM 2.2 Summarize and close the encounter effectively

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Input provided by

1. ●medical geneticist
2. ●laboratory geneticist
3. ●nurse
4. ●dietician
5. ●genetic counsellor
6. ●resident
7. ●other

Collaborator

• □COL 1.2 Demonstrate an understanding of the scope and expertise of other health care professionals
• □COL 1.3 Communicate effectively with physicians and other health care professionals
• □COL 1.3 Provide guidance to resolve clinical challenges

Health Advocate

• □HA 1.1 Facilitate timely patient access to services and resources

Professional

• □P 1.1 Behave in a professional manner
• □P 1.1 Respond punctually to requests from other health care professionals

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Setting

1. ●clinic
2. ●lab

Testing modality

1. ●cytogenetic
2. ●metabolic
3. ●molecular

Medical Expert

• □ME 2.2 Synthesize patient information to establish the clinical question
• □ME 2.2 Determine that the selected investigations are appropriate to the clinical indication
• □ME 2.2 Assess the quality and validity of the study, and any impact on the diagnostic interpretation
• □ME 2.2 Interpret genetic and genomic results together with available clinical and laboratory data
• □ME 2.2 Select additional testing based on an appreciation of the diagnostic possibilities, the clinical context, and the relevance and capabilities of available technologies
• □ME 4.1 Coordinate the use of multiple diagnostic investigations so as to ensure complementarity and efficiency

Collaborator

• □COL 1.3 Advise referring physicians on the most appropriate selection, sequence and/or timing of further investigation(s)

Leader

• □L 2.1 Utilize genetic testing resources effectively to balance costs with potential utility of results

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Lab discipline

1. ●cytogenetic
2. ●metabolic
3. ●molecular

Setting

1. ●clinic
2. ●lab

Medical Expert

• □ME 5.1 Recognize sources of analytical error for various genetic tests
• □ME 2.2 Interpret genetic and genomic results together with available clinical and laboratory data

Communicator

• □COM 5.1 Synthesize the findings of genetic testing for inclusion in a comprehensive and clinically meaningful laboratory report

Collaborator

• □COL 1.3 Work effectively with clinical colleagues to assist in the interpretation of laboratory findings in the clinical context

Scholar

• □S 3.4 Integrate best evidence and clinical expertise into decision-making

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Scholar

• □S 2.4 Identify the learning needs and desired learning outcomes of others
• □S 2.4 Develop learning objectives for a teaching activity adapting to the audience and setting
• □S 3.3 Critically evaluate the integrity, reliability and applicability of health-related research and literature
• □S 3.4 Integrate best evidence and clinical expertise
• □S 2.4 Present the information in an organized manner
• □S 2.4 Use audiovisual aids effectively
• □S 2.4 Provide adequate time for questions and discussion

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Collaborator

• □COL 2.1 Delegate tasks and responsibilities in an appropriate and respectful manner

Scholar

• □S 2.2 Create a positive learning environment
• □S 2.3 Be available and accessible to junior learners
• □S 2.4 Identify the learning needs and desired learning outcomes of others
• □S 2.4 Provide clinical teaching and/or other informal learning activities
• □S 2.5 Provide feedback to enhance learning and performance
• □S 3.4 Integrate best evidence and clinical expertise into teaching

Professional

• □P 1.1 Respond appropriately when behaviours toward colleagues and/or learners undermine a respectful environment

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Setting

1. ●clinic
2. ●lab

Scholar

• □S 3.1 Formulate the knowledge gap arising from a clinical situation
• □S 3.3 Apply knowledge of available resources to select appropriate sources of information
• □S 3.3 Develop and execute an effective search strategy
• □S 3.3 Critically evaluate the reliability and quality of resources
• □S 3.4 Integrate findings to address the clinical question

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Medical Expert

• □ME 1.1 Demonstrate responsibility and accountability for decisions regarding patient care, acting in the role of most responsible physician
• □ME 2.4 Establish patient-centred management plans

Collaborator

• □COL 1.3 Communicate effectively with a consulting service

Leader

• □L 4.1 Set priorities and manage time to fulfil diverse responsibilities
• □L 4.1 Integrate supervisory and teaching responsibilities into the overall management of the clinical service
• □L 4.2 Run the service efficiently, safely, and effectively

Scholar

• □S 3.4 Integrate best evidence and clinical expertise into decision-making

Professional

• □P 4.2 Manage competing personal and professional priorities

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Medical Expert

• □ME 1.1 Demonstrate responsibility and accountability for decisions regarding patient care, acting in the role of most responsible physician
• □ME 1.6 Prioritize patients based on the urgency of clinical presentations

Collaborator

• □COL 1.3 Provide accurate, timely and relevant written information to the referring/primary care physician
• □COL 1.2 Work effectively with outpatient clinic staff

Leader

• □L 4.2 Oversee clinic booking and scheduling
• □L 4.1 Manage time effectively to maintain clinic flow
• □L 4.1 Review and act on test results in a timely manner

Health Advocate

• □HA 1.1 Facilitate timely patient access to services and resources

Scholar

• □S 3.4 Integrate best evidence and clinical expertise into decision-making

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Input provided by

1. ●geneticist
2. ●other physician
3. ●genetic counsellor
4. ●nurse
5. ●social worker
6. ●dietician
7. ●support staff
8. ●other health professional (please specify)

Medical Expert

• □ME 1.1 Demonstrate responsibility and accountability for decisions regarding patient care, acting in the role of most responsible physician

Collaborator

• □COL 1.2 Make effective use of the scope and expertise of other health care professionals
• □COL 2.1 Delegate tasks and responsibilities in an appropriate and respectful manner
• □COL 1.1 Respond appropriately to input from other health care professionals
• □COL 1.3 Communicate effectively with physicians and other health care professionals

Professional

• □P 1.1 Behave in a professional manner

Case description

Feedback provided

Next steps

Entrustment (how much supervision did this activity need?)

1. ●I had to do
2. ●I had to talk them through
3. ●I needed to prompt
4. ●I needed to be there just in case
5. ●I didn’t need to be there

Leader

• □L 4.2 Examine personal interests and career goals
• □L 4.2 Adjust educational experiences to gain competencies necessary for future practice

Scholar

• □S 1.2 Interpret data on personal performance to identify opportunities for learning and improvement
• □S 1.1 Define learning needs related to personal practice and/or career goals
• □S 1.1 Create a learning plan that is feasible, includes clear deliverables and a plan for monitoring ongoing achievement
• □S 1.1 Identify resources required to implement a personal learning plan

Professional

• □P 2.1 Demonstrate a commitment to maintaining and enhancing competence

Case description

Feedback provided

Next steps