Neurogenetics Laboratory Rotation
Goals and Objectives
On completing the Neurogenetics laboratory rotation(s), the fellow is expected to be able to:
- Discuss the role of mitochondrial and nuclear genomes in mitochondrial function, the specific peculiarities of the mitochondrial DNA alterations including heredity, and the implications of heteroplasmy on mitochondrial biology and function.
- Discuss genotype-phenotype relationships in mitochondrial disease, and the various clinical syndromes associated with mitochondrial dysfunction.
- Demonstrate an understanding of the pathogenesis, clinical manifestations and diagnosis of various neuromuscular disorders, and of specific genetic alterations associated with these.
- Demonstrate an understanding of the relationship between the nature of these changes and the types of tests used to detect these alterations, the performance of and interpretation of these tests, and their pitfalls.
- Perform, review, interpret and report tests performed in the laboratory:
- Mitochonidrial DNA mutations
- Muscle biochemistry.
- SMN1 mutations and copy number alterations.
- Coenzyme Q and muscle function.
- Other tests currently being validated in the laboratory.
- Understand the clinical implications and limitations of these tests and, when appropriate, communicate these to ordering physicians.
- When relevant, collect clinical information, information from neuropathological evaluation of muscle and nerve, other laboratory data, and integrate this with results of tests performed in the laboratory,
- When these tests are inadequate to answer relevant clinical questions, help the treating physician identify clinically appropriate tests, laboratories performing such tests, and assist the clinician in interpreting these tests.
Practice based Learning and Improvement
- Regularly collect and study the relevant literature and demonstrate the ability to critically evaluate and compare published material.
- Review the literature pertaining to the tests performed in the neurogenetics laboratory.
- Show an understanding of how newly developing molecular technologies such as microarray technology and high throughput sequencing can impact the diagnosis of mitochondrial disorders and other nervous system disorders.
- Educate others physicians and allied health professionals about these developments in laboratory meetings and in departmental 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 in the neurogenetics laboratory, 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 respect and compassion for the patient and a dedication to patient care.
- Treat each sample as belonging to a patient, and not just a number.
- Show respect for the confidentiality of all patient information.
- Understand the need for and the role of appropriate informed consent prior to genetic testing.
- Conduct themselves with integrity and honor;
- If they identify any errors, or any area where there is a possibility of unreliable results, quickly bring this to the attention of those responsible so errors may be prevented, or
- Demonstrate reliability in all assigned activities;
- Demonstrate perfect attendance at all laboratory activities;
- Demonstrate completeness in the workup of all cases in the neurogenetics laboratory.
- Educate other health care professionals in the technical aspects and clinical implications of the various functions of the neurogenetics laboratory.
- Actively assume responsibility and leadership roles:
- Progressively assume greater responsibility in the review of cases and quality control. By the end of the rotation, they should be able to independently interpret all test results produced by the laboratory, identify potential problems and suggest corrective action.
- Progressively assume greater responsibility in the evaluation of various aspects of laboratory management.
- Progressively assume greater responsibility in the oversight of residents rotating in the lab.
- Pursue continuing professional growth and educational opportunities.
- Actively participate in academic conferences
- Actively seek out and interact with various experts in neurology, neurobiology and neurogenetics in the medical center as appropriate for the cases seen in the neurogenetics laboratory.
- Actively evaluate cases seen in the neurogenetics laboratory for opportunities for scholarly activities, either case reports and reviews, or new diagnostic approaches.
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:
- Provide guidance to clinicians and counselors to ensure that testing in the neurogenetics is used and integrated into patient care in an appropriate and cost-efficient manner.
- Demonstrate knowledge of scientific, legal, and ethical issues relating to neurogenetics testing.
- Understand the implications not only to patients, but also their families, of results of molecular genetic tests.
- Understand the need for informed consent, and as well as the legal requirement for
informed consents in NY State.
- Monitor the compliance of the laboratory with these requirements in cases that the fellow is involved with.
- Demonstrate an understanding of the regulatory issues governing the operations of the laboratory, including CLIA regulations, NY State regulations, CAP implementation of CLIA regulations, and the various guidelines of the Clinical Laboratory and Standards Institute (CLSI) to help laboratories meet these guidelines and provide optimal testing services to patients.
- Demonstrate knowledge of the impact of laboratory management and activities on other health care professionals, organizations, and society.
- Understand financial and economic systems in which the molecular laboratory operates, including billing, the appropriate use of current procedural terminology codes, diagnostic codes, and health insurance and reimbursement issues.
- Where appropriate, the fellow will, with the laboratory director and other resources available in the department of pathology, help clients (patient, physicians, referring laboratories) negotiate this maze, in the provision of optimal patient care.
- 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.