Medical Genetics Rotation
GOALS AND OBJECTIVES
On completing the Medical Genetics rotation(s), the fellow is expected to be able to:
- Demonstrate knowledge of the genetic basis and clinical features of various clinical syndromes:
- Common familial cancers (breast, ovary, colon) and rare cancer syndromes (Multiple Endocrine Neoplasia, Neurofibromatosis, Familial Adenomatous Polyposis, Von Hippel Lindau, and related syndromes, etc).
- Common dysmorphic syndromes, congenital abnormalities, and chromosomal disorders;
- Cystic fibrosis, common errors of metabolism, deafness, syndromic and non-syndromic; fragile X and other x-linked mental retardation;
- Neurogenetic and neuromuscular disorders - Spinal muscular atrophy, spinocerebellar ataxias, hereditary neuropathies, hereditary spastic paraplegia, myotonic dystrophy, Duchenne, Becker, limb girdle, FSH and Emery-Dreifuss muscular dystrophies;
- Ophthalmic genetic disorders - Retinitis Pigmentosa, and other retinal dystrophies.
- Pharmacogenetic disorders - malignant hyperthermia and glucose-6-phosphatase deficiency.
- Demonstrate familiarity with the clinical aspects of genetic diagnosis including:
- The role of family history, personal medical history, and findings of clinical examination as they relate to genetic diagnosis.
- The role of and implications of various ancillary investigations, including biochemical and genetic tests.
- The basis for Bayesian risk calculations.
- Record and analyze family history and medical history, and perform clinical examination as it relates to genetic diagnosis.
- Choose appropriate investigations and interpret results.
- Integrate family history, clinical and genetic testing data to arrive at a diagnosis and perform risk calculations, including Bayesian risk calculations.
- Accurately convey these results to patients and/or their families in a clear and non-technical language, demonstrating sensitivity to individual and cultural issues.
- Assist genetic counselors in providing Genetic counseling to patients and their families.
Practice Based Learning and Improvement
- Conduct literature searches and searches of genetic databases to answer questions about individual patients, when appropriate.
- Regularly collect and study the relevant literature and demonstrate the ability to critically evaluate and compare published material.
- Present findings of cases and literature searches at clinical genetics and pathology conferences.
Interpersonal and Communication Skills
During the rotation, fellows must demonstrate interpersonal and communication skills that result in effective information exchange and teaming with other health care providers, laboratory personnel, patients, and patients' families. Towards this end they shall:
- Develop effective working relationships with professional and technical staff, and outside consultants.
- Demonstrate effective verbal communication skills when communicating results to clinicians, at the appropriate level for the information being transmitted; convey and explain test results clearly, precisely, and concisely to physicians in direct conversations, or at conferences; communicate effectively with technical personnel when troubleshooting assays, or when managing the laboratory.
- Develop excellent written skills for communication of complicated results when issuing reports, for the development and implementation of new laboratory policies and procedures, and for presentation of scientific research data, as appropriate.
- Develop presentation skills that include selection of appropriate presentation materials and visual aids, good oral presentation and mannerisms, and the ability to answer questions effectively.
During the rotation, fellows must demonstrate a commitment to professional responsibilities, adherence to highest ethical standards, and respect for all. Towards this, they shall:
- Demonstrate habits leading to excellence in professional performance, which includes:
- Show perfect attendance at all clinical activities;
- Perform each assigned activity reliably;
- Work-up each case completely;
- Show dedication to patient care;
- Interact with patients and families of all ethnic and socioeconomic backgrounds in a sensitive, culturally appropriate manner.
Systems Based Practice
Fellows must demonstrate an awareness of and responsiveness to the larger context and system of health care and the ability to call on system resources to provide molecular genetic pathology services that are of optimal value. Towards this they shall, where appropriate:
- Work with geneticists and counselors to ensure appropriate and cost effective health care.
- Understand the clinical implications and cost-effectiveness of the tests performed in the molecular pathology laboratory and their implications for patient management.
- Provide information on alternative testing approaches that may be used, when appropriate.
- Demonstrate knowledge of and sensitivity to ethical issues relating to workup of patients with genetic conditions.
- Understand the implications not only to patients, but also their families, of results of hereditary conditions.
- Understand the need for informed consent, and obtain informed consent from patients or their families using appropriate non-technical language.
- Demonstrate knowledge of the impact of genetic conditions on the provision of other services and on society.
- Understand financial and economic systems in which clinical genetics services are provided, including billing, the appropriate use of current procedural terminology codes, diagnostic codes, and health insurance, reimbursement and rehabilitation issues.
- Practice cost-effective health care and resource allocation that does not compromise quality of care.
- Be an advocate for quality patient care and contribute to clinician education.
- Demonstrate the ability to assess, understand, and use the resources, personnel, and health care systems necessary to provide optimal care.