Cytogenetics / Molecular Pathology

Required Competencies:

Patient Care

Residents should be able to discuss collection and proper preparation of all specimens for cytogenetic and molecular testing.
- Compare similarities and differences in cell culture and harvesting techniques for various tissues.
- Identify chromosomes using banding techniques and fluorescent in situ hybridization (FISH).
- List the nomenclature used in describing cytogenetic abnormalities.
- Discuss information obtained by use of different molecular techniques.
- Review the online medical record when applicable.
Residents demonstrate competence in the performance of procedures considered essential for cytogenetics and FISH testing, including:
- Karyotyping of digital images.
- Ability to correlate cytogenetic/FISH results for patients being monitored for hematological disorders.
- Become familiar with nomenclature used in describing cytogenetic and molecular abnormalities.
- Ability to interpret laboratory results and correlate them with patient clinical information.
Residents make informed decisions regarding diagnostic workup of genetic specimens:
- Consider the use of additional studies such as special stains, FISH or molecular tests, based on patients’ clinical history, up-to-date scientific evidence gleaned from textbooks, journal articles, internet-based searches, and clinical judgment.
- Follow-up additional testing may require consultation with patient’s clinician for additional clinical information or receipt of another sample for further testing.
Residents use available information technology (hospital and laboratory information systems, internet-based literature searches)
- To support workup and diagnosis of cytogenetic patient specimens.
- To help educate clinicians by providing relevant literature references.
- To obtain information related to genetic disorders (OMIM).
- To be aware of laboratories that perform specific molecular tests (GeneTests)
Residents work with health care providers, in the generation of accurate and clinically useful cytogenetic reports and effective communication of results to clinicians.