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Medical Genetics Clinical Rotation 1 TABLE S2. Goals and Objectives MEDICAL GENETICS CLINICAL ROTATION The Medical Genetics Clinical Rotation can be either two weeks or one month in length. The Medical Genetics Clinical Rotation includes a variety of outpatient sites (the Medical Genetics Clinic at the UTP Building, the Medical Genetics Clinic at the Lyndon B. Johnson General Hospital, the Medical Genetics Clinic at the Shriners Hospital for Children, the Tuberous Sclerosis Complex (TSC) Specialty Clinic and the Craniofacial Specialty Clinic at UTPB) and Inpatient Consults daily at Children’s Memorial Hermann Hospital (CMHH). Duties directly related to patient care include researching conditions encountered on the patients utilizing software/literature searches and providing medical documentation (patient notes and counseling letters to families). Adherence to the 80-hour work week is mandated. Residents are supervised by faculty members who are board certified in Clinical Medical Genetics. The philosophy of the Medical Genetics Rotation is two-fold: teach the resident to recognize when a patient may have a disorder with an underlying genetic etiology and provide the resident with the tools to initiate the evaluation on a patient who may have a genetic condition. There are thousands of conditions with a genetic component ranging from chromosomal to single gene to multifactorial conditions. The Medical Genetics Rotation will not teach the resident each and every one of those conditions. We seek to teach the approach to a genetic problem and familiarity with some of the more common conditions. Legend for Learning Activities AR - Attending Rounds ASR - Assigned Reading DPC – Direct Patient Care E/C – Ethics/Communication Conferences FS – Faculty Supervision GR- Grand Rounds JC - Journal Club M/DO - Modeling/Direct Observation NC - Noon Conferences SL - Subspecialty Lectures WA-written assignments Legend for Evaluation Methods for Residents AE - Attending Evaluation DO - Direct Observation MGQ - Medical Genetics Quizzes RWA - Review of Written Assignments CR - Chart Review (includes counseling 360° - Global Evaluation letters to families) Principal Educational Goals and Objectives by Relevant Competency The principal educational goals for residents on this rotation are indicated for the relevant ACGME competencies. The tables below each goal list the corresponding educational objectives, the relevant learning activities, and the evaluation methods for each objective. The educational goals and objectives are applicable to categorical pediatric residents and combined medicine/pediatrics residents. The expected competency level demonstrated by the residents should reflect their respective level of experience. Medical Genetics Clinical Rotation 2 Competency 1 – Patient Care. Provide family centered patient care that is developmentally and age appropriate, compassionate, and effective for the treatment of health problems and the promotion of health. GOAL: Determine whether a medical condition has a genetic etiology. 1. 2. 3. 4. 5. Principal Educational Objectives Obtain and document a medical history that includes a detailed prenatal history and a detailed family history. Perform and document a thorough physical exam that includes measurements to determine normal v. abnormal (i.e. inner canthal distance, outer canthal distance, palpebral fissure length, ear length, arm span, upper/lower segment ratio, total hand length, middle finger length, etc.) as indicated on patients evaluated on the Medical Genetics Service. Perform and document a thorough physical examination on a child suspected of having a specific genetic disorder, identifying major and minor congenital anomalies that could be signs of an underlying genetic syndrome. Develop a management plan for commonly encountered genetic disorders, identifying principles of long-term management, including use of disorder-specific growth charts and practice guidelines. Identify resources in your community for diagnosis, genetic counseling, therapy and psychosocial support of children with genetic defects and congenital anomalies. Learning Activities DPC, AR, FS DPC, AR, FS Evaluation Methods AE, CR, DO AE, CR, DO DPC, AR, FS AE, CR, DO DPC, M/DO, SL, ASR AE, CR, DO ASR, AR AE, CR, DO GOAL: Conditions requiring urgent referral (Genetics and Inborn Errors of Metabolism). Recognize and respond to urgent and/or severe conditions related to genetics and inherited metabolic disorders. 1. Principal Educational Objectives Identify, explain, provide initial management and support, and seek urgent referral for the following genetic and/or metabolic conditions: - Infants presenting with symptoms that indicate the possibility of a severe inborn error of metabolism (e.g., metabolic acidosis, hyperammonemia, unexplained seizures, ketosis or hypoketosis, profound hypoglycemia). - Dysmorphic features found in chromosomal abnormalities that require prompt diagnosis in the perinatal period (e.g., Trisomy 13, 18, 21). - Unexplained critical illness or death suggestive of metabolic disorder, requiring collection of tissue samples before or at time of death. - Developmental delay with signs or symptoms suggesting an underlying metabolic or genetic disorder. - Physiologic changes or regression of milestones that suggest a possible metabolic etiology (e.g., urea cycle disorders, Learning Activities SL, ASR, DPC, FS Evaluation Methods AE, MGQ, DO Medical Genetics Clinical Rotation 3 mitochondrial disorders, lysosomal storage diseases, abnormalities of organic/amino acid metabolism). Competency 2 - Medical Knowledge. Understand the scope of established and evolving biomedical, clinical, epidemiological and social-behavioral knowledge needed by a pediatrician; demonstrate the ability to acquire, critically interpret and apply this knowledge in patient care. GOAL: Recognize presenting symptoms, diagnose, describe the pathophysiology, and manage common presentations of the following genetic conditions. 1. 2. 3. Principal Educational Objectives Describe findings of common chromosome abnormalities including: Trisomy 21, Trisomy 18, Trisomy 13, Turner syndrome (45,X), Klinefelter syndrome (47,XXY), and 47,XYY syndrome. Describe findings of common single gene disorders including: cystic fibrosis, sickle cell anemia, neurofibromatosis, tuberous sclerosis, Marfan syndrome, achondroplasia, PKU and galactosemia. Describe the evaluation of a patient with a potential metabolic emergency. Learning Activities ASR, NC, SL Evaluation Methods AE, MGQ ASR, NC, SL AE, MGQ ASR, NC, SL AE, MGQ GOAL: Differentiate disorders in patients associated with genetic predisposition or genetic disease from normal states or acquired disorders. 1. 2. 3. 4. 5. 6. 7. Principal Educational Objectives Describe common patterns of Mendelian vs. non-Mendelian inheritance (autosomal dominant and recessive, X-linked, and multifactorial) and the effect of maternal and paternal age. Demonstrate the ability to construct a pedigree. Discuss unusual patterns of inheritance (mitochondrial defects, triplet repeat, imprinting). Identify common diseases with known inheritance patterns and describe the mode of inheritance, including: cystic fibrosis, sickle cell anemia, Marfan syndrome, tuberous sclerosis, neurofibromatosis, and PKU. Identify common disorders with unusual inheritance patterns and describe the mode of inheritance, including: Fragile X, and MELAS. Explain the findings on clinical history and examination that suggest a known or potential genetic disorder or inborn error of metabolism. Describe how well-child care differs in a child with a genetic condition, e.g., use of specific growth charts for specific conditions and physical findings. Identify appropriate clinical and laboratory tests to help identify genetic diseases and inborn errors of metabolism. Explain the reason for the test to a family and interpret the results, with the assistance of a geneticist. The tests should include the following: Learning Activities ASR, DPC, FS, SL Evaluation Methods AE, MGQ, DO ASR, DPC, FS, SL AR, ASR, SL AE, MGQ, DO AR, ASR, SL FS, DPC AE, MGQ, AE DO FS, DPC DO DPC, FS, M/DO AE, DO AE, MGQ Medical Genetics Clinical Rotation - - 4 Chromosome analysis. Chromosomal microarray analysis (CMA). Plasma and urine amino acids, urine organic acids, ammonia level, venous pH, lactate, pyruvate, and blood acylcarnitine profile. Molecular testing for Fragile X. DNA mutational testing for selected disorders. Newer and future technologies developed for detection of genetic disorders (e.g., whole exome sequencing [WES]). GOAL: Undifferentiated signs and symptoms (Genetics and Inborn Errors of Metabolism). Evaluate, treat, and/or refer patients with the presenting signs and symptoms that suggest a genetic disease process. 1. Principal Educational Objectives Create a strategy to determine if the following presenting signs and symptoms are caused by a genetic disease or an inborn error of metabolism and determine if the patient needs treatment or referral. - Developmental delay - Unusual behavior - Short stature - Hypotonia - Dysmorphic features - Hearing loss - Poor feeding - Cleft lip/palate - Vomiting - Respiratory disorders - Failure to thrive - Obesity - Seizures - Skin lesions - Birth marks Learning Activities DPC, AR, M/DO Evaluation Methods AE, CR, DO GOAL: Molecular medicine. Recognize genetic factors in common diseases of childhood and adulthood. 1. 2. Principal Educational Objectives Discuss current knowledge regarding the molecular basis of common childhood and adult conditions. Identify the current and future uses of DNA testing in the office setting, including diagnosis of infectious diseases using DNA, pharmacogenetic testing for inborn errors of metabolic pathways prior to prescribing, DNA chips to identify genetic etiologies for complex disorders (e.g., congenital heart disease, seizure disorders, etc.). Learning Activities ASR, DPC Evaluation Methods AE, MGQ AR, ASR AE, MGQ Competency 3 – Interpersonal and Communications Skills. Demonstrate interpersonal and communication skills that result in information exchange and partnering with patients, their families and professional associates. GOAL: To participate in provision of genetic counseling to a patient and/or the patient’s parents including: diagnosis, prognosis and recurrence risk (for the parents as well as for the child when he/she reproduces). Medical Genetics Clinical Rotation 1. 2. 3. 4. 5. Principal Educational Objectives Participate in a genetic counseling session To write a genetic counseling letter to the family after participation in the genetic counseling session. Talk to family members about sensitive issues that relate to a patient’s illness, e.g., coping with the child’s altered needs in his/her home setting. Communicate effectively with physicians, other health professionals, and health related agencies to create and sustain information exchange and team work for patient care. Maintain accurate, legible, timely and legally appropriate medical records for Medical Genetics patients in the outpatient and inpatient setting. 5 Learning Activities DPC, AR, FS WA, DPC Evaluation Methods AE, CR, DO RWA, AE DPC, AR, FS AE, CR, DO DPC, AR, FS AE, CR, DO DPC, AR, FS AE, CR, DO Competency 4 – Practice-Based Learning and Improvement. Demonstrate knowledge, skills and attitudes needed for continuous self-assessment, using scientific methods and evidence to investigate, evaluate, and improve one’s patient care practice. 1. 2. 3. Principal Educational Objectives Develop strategies to learn about future advances in the understanding of genetic disorders, in order to incorporate into one’s practice improved screening, identification, counseling and management of such disorders. Identify the indicators that would lead you to seek a genetics consult. Identify personal learning needs, systematically organize relevant information resources for future reference, and plan for continuing data acquisition if appropriate. Learning Activities SL, AR, ASR Evaluation Methods MGQ, DO AR, DPC, FS AR,DPC, FS, M/DO AE, CSR AE, CR, DO, CSR Competency 5 – Professionalism. Demonstrate a commitment to carrying out professional responsibilities, adherence to ethical principles, and sensitivity to diversity. 1. 2. 3. Principal Educational Objectives Discuss the ethical, legal, financial and social issues involved in genetic testing of children for genetic disorders that may present in adulthood, testing children for carrier status, and providing medical care for patients with known fatal disorders. Demonstrate personal accountability to the well-being of all patients, even when other physicians are primarily responsible for their care, for example, by following up on lab results, writing comprehensive notes, seeking answers to difficult patient care questions, and communicating with primary care physicians. Demonstrate a commitment to carrying out professional responsibilities, adherence to ethical and legal principles, and sensitivity to diversity while providing care to children. Learning Activities AR, DPC, E/C, SL Evaluation Methods AE DPC, AR, ASR, M/DO AE, DO DPC, AR, ASR, M/DO AE, DO Medical Genetics Clinical Rotation 6 Competency 6 - Systems-Based Practice. Understand how to practice quality health care and advocate for patients within the context of the health care system. 1. 2. 3. 4. 5. Principal Educational Objectives Identify written and internet resources to aid in diagnosing a genetic or inborn error of metabolism, using physical findings along with laboratory examination. Demonstrate sensitivity to the costs of clinical care in Medical Genetics and take steps to minimize costs without compromising quality. Recognize the limits of one’s knowledge and expertise and take steps to avoid medical errors. Understand key aspects of health care systems as they apply to care of patients and their families, including cost control, billing and reimbursement. Recognize and advocate for families who need assistance to deal with systems complexities, such as lack of insurance, multiple medication refills, multiple appointments with long transport times, or inconvenient hours of service. Learning Activities DPC, FS, ASR Evaluation Methods AE, CR, RWH DPC, FS, ASR AE, CR, RWH DPC AE DPC AE DPC AE