Genetics Elective Rotation PL-1 Residents

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1 PL-1 Residents The Genetics elective rotation exposes residents to the fundamentals of genetically based diseases/disorders and their diagnosis and management, patient and family history-taking in the context of genetic disorders, experience in the dysmorphology examination, and family genetic counseling. Residents serve as primary consultants for patients/families referred to the Genetics Clinic, where they will conduct initial and family histories, generate family pedigrees, and observe genetic counseling sessions. Residents who demonstrate sufficient expertise will also conduct genetic counseling under the observation of the attending clinical geneticist. Residents will be responsible for inpatient consultation by the genetics service during their elective. A. Patient Care: 1. Demonstrate the ability to gather appropriate family history for genetic disorders and identify risks when present 2. Demonstrate physical examination skills for patients across the age range, with emphasis on identification of major and minor congenital anomalies that may be signs of underlying genetic syndromes 3. Develop appropriate assessments and plans for patients seen 4. Accurately analyze and apply available information to make appropriate diagnostic decisions and therapeutic interventions B. Medical Knowledge: 1. Demonstrate knowledge of key concepts related to gene structure, molecular genetic techniques, mutations, and common patters of inheritance 2. Demonstrate knowledge of common methods of genetic diagnosis, including genetic screening tests currently available, and their applications and limitations 3. Explain the concept of malformation etiologies: chromosomal, single-gene, multifactorial, teratogenic, and intrauterine causal factors 4. Describe indications for testing in the primary care setting for genetic or metabolic disorders 5. Demonstrate knowledge of key concepts related to testing for carrier states and genes predisposing to cancer and adult-onset disorders 6. Describe presentation and intervention for chromosomal abnormalities requiring prompt diagnosis in the perinatal period (e.g., Trisomies 13, 18, and 21) 7. Describe presenting signs and principles of long-term management, of commonly encountered disorders (e.g., Trisomy 21, Turner Syndrome, Fragile X, neurofibromatosis) 8. Discuss the limitations and intrastate variability of newborn screening and the management of positive results C. Practice-Based Learning and Improvement: 1. Review and discuss the genetics information references on the genetics site of the chiefs website 2. Complete the case-based questions reference, which is located under the bioinformatics link on the genetics page on the Chief Resident website 3. Identify and describe resources for up-to-date genetics information 4. Evaluate their own performance, identify gaps in their knowledge base, and target their selfdirected learning to enhance performance and fill knowledge gaps 5. Demonstrate the willingness to learn from error Updated

2 PL-1 Residents 6. Provide, request, and accept feedback D. Interpersonal and Communication Skills: 1. Demonstrate the ability to communicate with patients from a wide range of backgrounds 2. Appropriately use interpreters when required 3. Demonstrate empathetic and supportive behavior and language when delivering/discussing bad news 4. Demonstrate the ability to provide genetic counseling and education to patients and their families in a comprehensible and supportive manner 5. Effectively communicate with staff, community-based physicians, and hospital-based physicians 6. Communicate crucial and appropriate information through written medical records and patient presentations E. Professionalism: 1. Act in the best interest of patients 2. Be punctual, reliable, and conscientious 3. Demonstrate a caring and respectful demeanor when interacting with patients and their families 4. Maintain patient/family confidentiality 5. Demonstrate sensitivity and responsiveness to the gender, age, culture, religion, sexual preference, socioeconomic status, beliefs, behaviors and disabilities of patients and professional colleagues 6. Identify and describe ethical issues in genetic testing and counseling 7. Conscientiously follow hospital procedures for acknowledging, reporting, and correcting errors 8. Discuss errors honestly with families 9. Demonstrate skill and empathy in management of challenging patients and their families F. Systems-Based Practice: 1. Participate as a team member in medical and educational planning for patients with genetic disorders 2. Describe means of identification and use of community resources for diagnosis, genetic counseling, therapy, and psychosocial support for children with genetic defects and congenital anomalies 3. Advocate for patients and families and help them to navigate system complexities and identify a medical home Updated

3 PL-2 Residents The Genetics elective rotation exposes residents to the fundamentals of genetically based diseases/disorders and their diagnosis and management, patient and family history-taking in the context of genetic disorders, experience in the dysmorphology examination, and family genetic counseling. Residents serve as primary consultants for patients/families referred to the Genetics Clinic, where they will conduct initial and family histories, generate family pedigrees, and observe genetic counseling sessions. Residents who demonstrate sufficient expertise will also conduct genetic counseling under the observation of the attending clinical geneticist. Residents will be responsible for inpatient consultation by the genetics service during their elective. A. Patient Care: 1. Demonstrate the ability to gather appropriate family history for genetic disorders and identify risks when present 2. Demonstrate physical examination skills for patients across the age range, with emphasis on identification of major and minor congenital anomalies that may be signs of underlying genetic syndromes 3. Develop appropriate assessments and plans for patients seen 4. Accurately analyze and apply available information to make appropriate diagnostic decisions and therapeutic interventions B. Medical Knowledge: 1. Demonstrate knowledge of key concepts related to gene structure, molecular genetic techniques, mutations, and common patters of inheritance 2. Demonstrate knowledge of common methods of genetic diagnosis, including genetic screening tests currently available, and their applications and limitations 3. Explain the concept of malformation etiologies: chromosomal, single-gene, multifactorial, teratogenic, and intrauterine causal factors 4. Describe indications for testing in the primary care setting for genetic or metabolic disorders 5. Demonstrate knowledge of key concepts related to testing for carrier states and genes predisposing to cancer and adult-onset disorders 6. Describe presentation and intervention for chromosomal abnormalities requiring prompt diagnosis in the perinatal period (e.g., Trisomies 13, 18, and 21) 7. Describe presenting signs and principles of long-term management, of commonly encountered disorders (e.g., Trisomy 21, Turner Syndrome, Fragile X, neurofibromatosis) 8. Discuss the limitations and intrastate variability of newborn screening and the management of positive results C. Practice-Based Learning and Improvement: 1. Review and discuss the genetics information references on the genetics site of the chiefs website 2. Complete the case-based questions reference, which is located under the bioinformatics link on the genetics page on the Chief Resident website 3. Identify and describe resources for up-to-date genetics information 4. Evaluate their own performance, identify gaps in their knowledge base, and target their selfdirected learning to enhance performance and fill knowledge gaps 5. Demonstrate the willingness to learn from error Updated

4 PL-2 Residents 6. Provide, request, and accept feedback D. Interpersonal and Communication Skills: 1. Demonstrate the ability to communicate with patients from a wide range of backgrounds 2. Appropriately use interpreters when required 3. Demonstrate empathetic and supportive behavior and language when delivering/discussing bad news 4. Demonstrate the ability to provide genetic counseling and education to patients and their families in a comprehensible and supportive manner 5. Effectively communicate with staff, community-based physicians, and hospital-based physicians 6. Communicate crucial and appropriate information through written medical records and patient presentations E. Professionalism: 1. Act in the best interest of patients 2. Be punctual, reliable, and conscientious 3. Demonstrate a caring and respectful demeanor when interacting with patients and their families 4. Maintain patient/family confidentiality 5. Demonstrate sensitivity and responsiveness to the gender, age, culture, religion, sexual preference, socioeconomic status, beliefs, behaviors and disabilities of patients and professional colleagues 6. Identify and describe ethical issues in genetic testing and counseling 7. Conscientiously follow hospital procedures for acknowledging, reporting, and correcting errors 8. Discuss errors honestly with families 9. Demonstrate skill and empathy in management of challenging patients and their families F. Systems-Based Practice: 1. Participate as a team member in medical and educational planning for patients with genetic disorders 2. Describe means of identification and use of community resources for diagnosis, genetic counseling, therapy, and psychosocial support for children with genetic defects and congenital anomalies 3. Advocate for patients and families and help them to navigate system complexities and identify a medical home Updated

5 PL-3/4 Residents The Genetics elective rotation exposes residents to the fundamentals of genetically based diseases/disorders and their diagnosis and management, patient and family history-taking in the context of genetic disorders, experience in the dysmorphology examination, and family genetic counseling. Residents serve as primary consultants for patients/families referred to the Genetics Clinic, where they will conduct initial and family histories, generate family pedigrees, and observe genetic counseling sessions. Residents who demonstrate sufficient expertise will also conduct genetic counseling under the observation of the attending clinical geneticist. Residents will be responsible for inpatient consultation by the genetics service during their elective. A. Patient Care: 1. Demonstrate the ability to gather appropriate family history for genetic disorders and identify risks when present 2. Demonstrate physical examination skills for patients across the age range, with emphasis on identification of major and minor congenital anomalies that may be signs of underlying genetic syndromes 3. Develop appropriate assessments and plans for patients seen 4. Accurately analyze and apply available information to make appropriate diagnostic decisions and therapeutic interventions B. Medical Knowledge: 1. Demonstrate knowledge of key concepts related to gene structure, molecular genetic techniques, mutations, and common patters of inheritance 2. Demonstrate knowledge of common methods of genetic diagnosis, including genetic screening tests currently available, and their applications and limitations 3. Explain the concept of malformation etiologies: chromosomal, single-gene, multifactorial, teratogenic, and intrauterine causal factors 4. Describe indications for testing in the primary care setting for genetic or metabolic disorders 5. Demonstrate knowledge of key concepts related to testing for carrier states and genes predisposing to cancer and adult-onset disorders 6. Describe presentation and intervention for chromosomal abnormalities requiring prompt diagnosis in the perinatal period (e.g., Trisomies 13, 18, and 21) 7. Describe presenting signs and principles of long-term management, of commonly encountered disorders (e.g., Trisomy 21, Turner Syndrome, Fragile X, neurofibromatosis) 8. Discuss the limitations and intrastate variability of newborn screening and the management of positive results C. Practice-Based Learning and Improvement: 1. Review and discuss the genetics information references on the genetics site of the chiefs website 2. Complete the case-based questions reference, which is located under the bioinformatics link on the genetics page on the Chief Resident website 3. Identify and describe resources for up-to-date genetics information 4. Evaluate their own performance, identify gaps in their knowledge base, and target their selfdirected learning to enhance performance and fill knowledge gaps 5. Demonstrate the willingness to learn from error Updated

6 PL-3/4 Residents 6. Provide, request, and accept feedback D. Interpersonal and Communication Skills: 1. Demonstrate the ability to communicate with patients from a wide range of backgrounds 2. Appropriately use interpreters when required 3. Demonstrate empathetic and supportive behavior and language when delivering/discussing bad news 4. Demonstrate the ability to provide genetic counseling and education to patients and their families in a comprehensible and supportive manner 5. Effectively communicate with staff, community-based physicians, and hospital-based physicians 6. Communicate crucial and appropriate information through written medical records and patient presentations E. Professionalism: 1. Act in the best interest of patients 2. Be punctual, reliable, and conscientious 3. Demonstrate a caring and respectful demeanor when interacting with patients and their families 4. Maintain patient/family confidentiality 5. Demonstrate sensitivity and responsiveness to the gender, age, culture, religion, sexual preference, socioeconomic status, beliefs, behaviors and disabilities of patients and professional colleagues 6. Identify and describe ethical issues in genetic testing and counseling 7. Conscientiously follow hospital procedures for acknowledging, reporting, and correcting errors 8. Discuss errors honestly with families 9. Demonstrate skill and empathy in management of challenging patients and their families F. Systems-Based Practice: 1. Participate as a team member in medical and educational planning for patients with genetic disorders 2. Describe means of identification and use of community resources for diagnosis, genetic counseling, therapy, and psychosocial support for children with genetic defects and congenital anomalies 3. Advocate for patients and families and help them to navigate system complexities and identify a medical home Updated

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