Diagnostic Detectives: Medical Laboratory Professionals A Closer Look at Careers in Genetic Testing (Molecular Pathology & Cytogenetics)

When your doctor orders “lab tests” do you know….. Who examines cell chromosomes for abnormalities in number and structure? Cytogenetic Technologist Who analyzes extracted DNA and RNA for gene rearrangements and translocations? Molecular Technologist

Medical Laboratory Facts A behind-the-scenes, highly skilled team of pathologists, specialists, technologists, and assistants work together to provide valuable data needed to: determine the presence or absence of disease evaluate the effectiveness of treatment maintain health Also called Clinical Pathology and Anatomic Pathology.

Medical Laboratory Facts Genetic testing laboratory professionals generate data to assist physicians in the detection of cancer, bacterial and viral infections, and inherited chromosomal disorders. 80% of all physician decisions are based on laboratory test results produced by the laboratory team.

Careers in the Genetics Testing Laboratory Phlebotomist Laboratory Assistant Molecular Technologist Cytogenetics Technologist Supervisor/Manager Technical Specialist (PhD) Pathologist (MD or DO) NOTE: Educational requirements for the professions in blue will be discussed later.

Job Opportunities Hospital laboratories Reference laboratories State Department of Health Fertility clinics Pharmaceutical / Biotech industry Veterinary laboratories Forensic laboratories

Daily Routine Phlebotomist Collect blood specimens Laboratory Assistant Process specimens and perform pre-analytic functions Molecular Technologist Extract DNA from tissue and blood specimens Perform molecular assays on specimens (PCR and Southern Blot) Maintain instruments & perform quality control Review results for accuracy

Daily Routine – continued: Cytogenetic Technologist Culture cells from patient tissues and blood Induce the cells to divide Harvest cell cultures and transfer material to slides for analysis Analyze metaphase spreads and photograph to provide an image to karyotype (chromosomes organized into homologue pairs) Analyze karyotype for chromosomal abnormalities (e.g., look for additions or missing parts of chromosome)

Typical Genetic Testing Laboratories: Molecular Pathology may also be called Molecular Diagnostics may be located within the Clinical Pathology or Anatomic Pathology Laboratory departments Cytogenetics typically located in the Anatomic Pathology Laboratory department

Photo Tour of Molecular Pathology and Cytogenetics Laboratories

Phlebotomy The phlebotomist collects blood samples from patients - young and old.

Specimen Processing Laboratory assistants in Clinical Pathology receive and prepare blood and body fluid specimens for testing.

Specimen Processing Laboratory assistants in Anatomic Pathology enter specimen information into the computer while the pathologists’ assistant describes and dissects tissue for analysis.

Molecular Pathology In this laboratory, molecular technologists unravel the DNA or RNA from a patient’s cells to attach molecular probes that signal cancer or infections.

Molecular Pathology Lab Molecular technologists extract the DNA from samples using various enzymes …..

Molecular Pathology Lab … and then the extracted DNA is precipitated with ethanol.

Molecular Pathology Lab The molecular technologist … loads some of the extracted DNA onto a gel, electrophoreses the gel for 20 minutes, and then stains the separated DNA.

Molecular Pathology Lab The gel is then photographed and reviewed to check for sufficient quantity and quality of extracted DNA. If it meets these quality checks, the remaining DNA will be analyzed using the technique of: PCR (polymerase chain reaction) or Southern Blot Patient DNA

Molecular Pathology Lab Southern blot utilizes probe hybridization to check for gene rearrangements found in lymphoma of solid tissue. Presence of multiple bands (see arrows) indicating a gene rearrangement.

Molecular Pathology Lab In PCR, the extracted DNA is then amplified using various types of thermal cyclers.

Molecular Pathology Lab Computerized technology and capillary electrophoresis instrumentation assist in the evaluation of PCR products for the detection of gene rearrangements.

Molecular Pathology Lab Capillary electrophoresis printouts of PCR products showing polyclonal and monoclonal results. (Monoclonal findings indicate a gene rearrangement.)

Molecular Pathology Lab The resulting DNA or RNA nucleic acid sequences are then studied for: unique sequences of various bacterial, fungal or viral organisms defective genes found in inherited disease such as cystic fibrosis mutations in certain cancer cells translocations in cancer cells from solid tissue

Cytogenetics In this laboratory, cytogenetic technologists culture cells from patient samples. The cell cultures are induced to grow and provide chromosomes for microscopic analysis.

Cytogenetics Lab Types of samples analyzed include; Prenatal (amniotic fluid, chorionic villus sampling) purpose of determining chromosome abnormalities such as Down’s syndrome Oncology (bone marrow aspirate, blood from leukemia patients, tumor tissue) purpose of determining cancerous conditions Constitutional Studies (products of conception, peripheral blood) purpose of determining inherited chromosomal disorders or abnormalities

Cytogenetics Lab Cytogenetic technologists culture cells from patient tissue and blood The cells are induced to divide The cells cultures are harvested and transferred to microscope slides for staining and analysis

Cytogenetics Lab The stained chromosomes are analyzed with a computerized microscope to: analyze metaphase spreads photograph metaphase spread to provide an image to karyotype (organize chromosomes in homologous pairs)

Cytogenetics Lab Chromosome homologous pairs are then analyzed for chromosome abnormalities (e.g., missing or added parts, extra chromosomes, etc).

Cytogenetics Lab - FISH Cytogenetic technologists also perform fluorescent in situ hybridization (FISH). FISH involves unraveling the DNA of chromosomes to attach molecular probes that contain a fluorescent signal FISH allows us to view and identify chromosomes often not detectable by karyotyping alone This probe fluoresces chromosome telomeres a bright green. This probe fluoresces the whole chromosome a bright green.

More Information… Education & Training Certification Wages and Job Outlook Career Advancement

Phlebotomy Technician High School diploma or GED Good communication skills Formal course in Phlebotomy preferred Phlebotomy programs are available through community colleges, proprietary health occupation schools, or other academic institutions. Clinical training required Certification recommended (after one year work experience or formal clinical training in accredited program) Work in hospitals, physician offices, home health care, clinics, insurance companies

Lab Assistant High School Didactic courses in Lab Skills and Computer Applications also preferred These can be taken in a high school technical/occupational health program or in a community college medical assisting curriculum. On the job clinical training Work in hospitals, commercial reference laboratories, research labs

Molecular Technologist Bachelor’s degree Math (algebra) and computer applications Courses in biochemistry, statistics, physics, genetics, general microbiology, math and computer applications Courses in Clinical Hematology, Immunohematology, Immunology, Medical Microbiology, Clinical Chemistry Completion of a NAACLS accredited MT/CLS program or molecular biology education program National certification: CLSp(MB) or MP(ASCP) Training, even after certification, is mostly on the job, hands-on

Cytogenetic Technologist Baccalaureate degree Courses in applied sciences, biology, chemistry, genetics Clinical internship in NAACLS accredited program MT/CLS or HTL program National certification: CLSp(CG) Training, even after certification, is mostly on the job, hands-on

Wages & Job Outlook Sources: ASCP Preliminary 2003 Wage & Vacancy Survey of Medical Laboratories, July, 2004, www.ascp.org *Association of Genetic Technologists (AGT), www.agt-info.org, (accessed September, 2004)

Career Advancement

Supervisor/Manager Senior technologists with an interest in management play an important role in coordinating laboratory operations, staffing, and finances.

PhD Technical specialist (PhD) roles include: technical directing of laboratory sections conducting research reviewing and reporting of patient results consulting with a patient’s physician

Pathologist Pathologist (MD or DO) roles include: directing the laboratory conducting research training residents reviewing and reporting of patient results consulting with a patient’s physician

Accredited Educational Programs The National Accrediting Agency for Clinical Laboratory Science (NAACLS) has a comprehensive listing of accredited educational programs in cytogenetics and diagnostic molecular science. National Accrediting Agency for Clinical Laboratory Sciences 8410 W. Bryn Mawr Ave., Suite 670 Chicago, IL 60631-3415 773-714-8880 www.naacls.org

Certifying Agencies - Molecular Technologist American Society for Clinical Pathology - Board of Registry (ASCP-BOR) Box 12277 Chicago, IL 60612-0277 www.ascp.org/bor National Credentialing Agency for Laboratory Personnel, Inc. (NCA) P.O. Box 15945-289 Lenexa, KS 66285 www.nca-info.org

Certifying Agencies - Cytogenetics Technologist National Credentialing Agency for Laboratory Personnel, Inc. (NCA) P.O. Box 15945-289 Lenexa, KS 66285 www.nca-info.org

Summary If you... are fascinated by science like to solve problems like challenge and responsibility are accurate and reliable work well under pressure communicate well and set high standards for yourself ….

Summary then… consider a career in Genetic Testing!!