Overall Program Learning Objectives
The fellow shall work as part of the medical team providing patient care that is compassionate, appropriate and effective for the treatment of medical conditions and promotion of health, with special emphasis on the application of Molecular Genetic Pathology Techniques in the management of patients with inherited disorders, cancer and related disorders, infectious disease, immunogenetics, and gene targeted therapies.
By the end of the program, the fellow will able to:
- Gather essential and accurate patient information, especially data from other pathology and laboratory services, including histopathologic and immunophenotypic data.
- Communicate effectively with clinicians, as appropriate, to solicit patient history.
- Make informed test/assay recommendations based on clinical information, cost-effectiveness of testing and knowledge of available testing.
- Advise health care professionals about the variety of assays appropriate for the disease or health concern and assist in interpreting assay results.
- Offer education and consultation services in MGP to health care providers.
- Communicate to clinicians with results of time-critical assays, especially those that will drive immediate clinical or therapeutic decisions.
Fellows shall demonstrate knowledge and application of the principles of Molecular Genetic Pathology, including basic molecular biology, genetics, testing methodologies, laboratory management, clinical application of these in the fields of inherited disorders, oncology, infectious disease, hematology, immunogenetics and pharmacogenetics.
- Demonstrate mastery of the science of MGP, including nucleic acid structure and function, and mutations/variations, and use appropriate/accurate descriptive nomenclature. This includes:
- An understanding of the structure, function and replication of nucleic acids and proteins and their role in cellular function.
- An understanding of the nature of and types of genetic and epigenetic alterations and how they lead to altered function in various disease states, including Mendelian Disorders and other inherited conditions, susceptibility to disease and altered drug metabolism, as well as acquired conditions including hematopoietic tumors, solid tumors and infectious disease.
- The demonstration of proficiency in the use of appropriate/accurate descriptive nomenclature of genes and variations.
- An understanding of prokaryotic molecular biology and biochemistry relevant to development, performance and interpretation of nucleic-acid based tests for the identification and evaluation disease causing microorganisms.
- An understanding of the biology of the Major Histocompatibility Complex and its role in transplant immunology.
- An understanding of the role of genetic variation - germline and somatic - in differential responses and toxicity to various therapeutic agents.
- Demonstrate an understanding of and technical proficiency in standard molecular laboratory techniques including Nucleic acid extraction; electrophoresis; Qualitative and quantitative amplification technologies; DNA sequencing; In situ hybridization; microarray technologies;
- Explain the clinical indications, methodologies and limitations of testing for a wide range of clinical disorders including:
- Hematologic neoplasms, such as tests for B-Cell and T-cell clonality, tumor-specific translocations with and without fusion transcripts, tumor-specific mutations of oncogenes, mutations of prognostic value, and potential predictive mutations;
- Solid tumors, including tumor-specific mutations, tumor-specific translocations, predictive mutations in oncogenes and tumor-suppressor genes; tests for mismatch repair deficiency; predictive alterations in gene copy number, including copy number alterations of receptor and non-receptor tyrosine kinases such as HER-2/neu;
- Inherited disorders, including diagnostic tests for single-gene Mendelian disorders and syndromes with locus heterogeneity; mitochondrial disorders and related conditions; disease susceptibility testing; tests for constitutional chromosomal disorders and copy number alterations; and screening for carrier states for common inherited disorders such as cystic fibrosis, spinal muscular atrophy, Xlinked mental retardation and related conditions. This will include, where appropriate, the evaluation of molecular genetic tests, clinical and pedigree information to perform risk calculations.
- Identity testing, including tests for maternal cell contamination of pre-natal specimens, bone-marrow engraftment monitoring, and identification of surgical pathology specimen mix-up.
- HLA testing for transplants and for disease susceptibility;
- Tests for infectious agents, including testing for etiologic viral agents in various syndromes; viral load testing; molecular identification of prokaryotic organisms isolated in culture; identification of antimicrobial resistance-associated mutations by sequencing or targeted testing; HPV testing in cervical cancer screening;
- Where appropriate, demonstrate the ability to coordinate all the pathological information obtained in order to reach a final diagnostic conclusion. This includes:
- Developing skills in correlating gross, microscopic, immunophenotypic and molecular genetic findings;
- Evaluating all of these pathologic parameters in the context of the clinical, radiographic and other laboratory findings;
- Understanding the role and limitations of routine morphology, immunophenotyping and molecular genetic techniques and therefore recognizing the appropriate order of these studies in a diagnostic laboratory.
- Explain principles and indications for pharmacogenetic testing and gene-targeted therapeutics.
- Demonstrate an understanding of basic principles of laboratory management, including QC, QA, troubleshooting, test validation, instrumentation, budgeting, personnel requirements, regulatory agencies and requirements, ethical issues, and laboratory and patient safety
Practice Based Learning and Improvement
Fellows shall demonstrate the ability to investigate and evaluate their diagnostic and consultative practices, appraise and assimilate scientific evidence, and improve their patient care practices. Specifically, they shall:
- Participate actively in professional societies dedicated to the improvement of Molecular Genetic pathology.
- Continuously update their knowledge in sciences and clinical fields related to MGP.
- Demonstrate an understanding of clinical test development and validation procedures - both technical and clinical.
- Participate actively in educating and instructing others in matters related to MGP.
- Demonstrate the ability to ask a definable question, search for relevant scientific information, critically appraise the information using the principles of evidence-based medicine, and apply the results to clinical practice.
Interpersonal and Communication Skills
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.
- Develop effective verbal communication skills, including the ability to communicate with clinicians at the appropriate level for the information being transmitted, the ability to convey and explain test results clearly, precisely, and concisely, and the ability to communicate effectively with technical personnel when troubleshooting and 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.
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;
- Conduct themselves with integrity and honor;
- Demonstrate reliability in all assigned activities;
- Demonstrate perfect attendance at all laboratory activities;
- Demonstrate completeness in all patient workup, with respect to MGP.
- Educate other health care professionals in aspects of MGP;
- Actively assume responsibility and leadership roles; AND
- Pursue continuing professional growth and educational opportunities.
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 molecular testing is used and integrated into patient care in an appropriate and cost-efficient manner.
- Demonstrate knowledge of scientific, legal, and ethical issues relating to molecular testing.
- 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.
- 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.