Diagnostic Detectives: Diagnostic Detectives: Medical Laboratory Medical Laboratory ProfessionalsProfessionals

A Closer Look at A Closer Look at Careers in Careers in

Genetic TestingGenetic Testing(Molecular Pathology & (Molecular Pathology &

Cytogenetics)Cytogenetics)

When your doctor orders When your doctor orders “lab tests” do you “lab tests” do you know…..know….. Who examines cell chromosomes for Who examines cell chromosomes for

abnormalities in number and structure? abnormalities in number and structure? Cytogenetic TechnologistCytogenetic Technologist

Who analyzes extracted DNA and RNA Who analyzes extracted DNA and RNA for gene rearrangements and for gene rearrangements and translocations? translocations?

Molecular TechnologistMolecular Technologist

Medical Laboratory Medical Laboratory FactsFacts

A behind-the-scenes, highly skilled team A behind-the-scenes, highly skilled team of pathologists, specialists, technologists, of pathologists, specialists, technologists, and assistants work together to provide and assistants work together to provide valuable data needed to:valuable data needed to:– determine the presence or absence of diseasedetermine the presence or absence of disease– evaluate the effectiveness of treatmentevaluate the effectiveness of treatment– maintain health maintain health

Also called Clinical Pathology and Also called Clinical Pathology and Anatomic Pathology. Anatomic Pathology.

Medical Laboratory Medical Laboratory FactsFacts

Genetic testing laboratory professionals Genetic testing laboratory professionals generate data to assist physicians in generate data to assist physicians in the detection of cancer, bacterial and the detection of cancer, bacterial and viral infections, and inherited viral infections, and inherited chromosomal disorders.chromosomal disorders.

80% of all physician decisions are 80% of all physician decisions are based on laboratory test results based on laboratory test results produced by the laboratory team.produced by the laboratory team.

Careers in the Careers in the Genetics Testing Genetics Testing LaboratoryLaboratory PhlebotomistPhlebotomist Laboratory AssistantLaboratory Assistant Molecular Technologist Molecular Technologist Cytogenetics TechnologistCytogenetics Technologist Supervisor/ManagerSupervisor/Manager Technical Specialist (PhD)Technical Specialist (PhD) Pathologist (MD or DO)Pathologist (MD or DO)

NOTE: Educational requirements for the professions in blue will be discussed later.

Job OpportunitiesJob Opportunities

Hospital laboratoriesHospital laboratories Reference laboratoriesReference laboratories State Department of Health State Department of Health Fertility clinicsFertility clinics Pharmaceutical / Biotech industryPharmaceutical / Biotech industry Veterinary laboratoriesVeterinary laboratories Forensic laboratoriesForensic laboratories

Daily RoutineDaily Routine

PhlebotomistPhlebotomist– Collect blood specimensCollect blood specimens

Laboratory AssistantLaboratory Assistant– Process specimens and perform pre-analytic functionsProcess specimens and perform pre-analytic functions

Molecular TechnologistMolecular Technologist – Extract DNA from tissue and blood specimensExtract DNA from tissue and blood specimens– Perform molecular assays on specimens (PCR and Perform molecular assays on specimens (PCR and

Southern Blot)Southern Blot)– Maintain instruments & perform quality controlMaintain instruments & perform quality control– Review results for accuracyReview results for accuracy

Daily Routine – Daily Routine – continued:continued:

Cytogenetic TechnologistCytogenetic Technologist– Culture cells from patient tissues and bloodCulture cells from patient tissues and blood– Induce the cells to divideInduce the cells to divide– Harvest cell cultures and transfer material to Harvest cell cultures and transfer material to

slides for analysisslides for analysis– Analyze metaphase spreads and photograph to Analyze metaphase spreads and photograph to

provide an image to karyotype (chromosomes provide an image to karyotype (chromosomes organized into homologue pairs) organized into homologue pairs)

– Analyze karyotype for chromosomal Analyze karyotype for chromosomal abnormalities (e.g., look for additions or missing abnormalities (e.g., look for additions or missing parts of chromosome)parts of chromosome)

Typical Genetic Testing Typical Genetic Testing Laboratories:Laboratories:

Molecular PathologyMolecular Pathology– may also be called Molecular may also be called Molecular

DiagnosticsDiagnostics– may be located within the Clinical may be located within the Clinical

Pathology or Anatomic Pathology Pathology or Anatomic Pathology Laboratory departmentsLaboratory departments

Cytogenetics Cytogenetics – typically located in the Anatomic typically located in the Anatomic

Pathology Laboratory departmentPathology Laboratory department

Photo Tour Photo Tour of of

Molecular Pathology Molecular Pathology and Cytogenetics and Cytogenetics

LaboratoriesLaboratories

PhlebotomyPhlebotomy

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

Specimen ProcessingSpecimen Processing

LaboratoryLaboratory

assistants inassistants in

ClinicalClinical

PathologyPathology

receive andreceive and

prepare prepare bloodblood

and body fluidand body fluid

specimens forspecimens for

testing. testing.

Specimen ProcessingSpecimen Processing

Laboratory assistantsLaboratory assistants

in in Anatomic Anatomic

PathologyPathology enter enter

specimen informationspecimen information

into the computerinto the computer

while the pathologists’while the pathologists’

assistantassistant describes describes

and dissects and dissects tissuetissue

for analysis. for analysis.

Molecular PathologyMolecular Pathology

In this laboratory, molecular technologists In this laboratory, molecular technologists

unravel the DNA or RNA from a patient’sunravel the DNA or RNA from a patient’s

cells to attach molecular probes thatcells to attach molecular probes that

signal cancer or infections.signal cancer or infections.

Molecular Pathology Molecular Pathology LabLab

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

Molecular Pathology Molecular Pathology LabLab

… and then the extracted DNA is precipitated with ethanol.

Molecular Pathology Molecular Pathology LabLab The molecular The molecular

technologist …technologist …– loads loads somesome of the of the

extracted DNA onto extracted DNA onto a gel,a gel,

– electrophoreseselectrophoreses the gel for 20 the gel for 20 minutes, and thenminutes, and then

– stains the stains the separated DNA.separated DNA.

Molecular Pathology Molecular Pathology LabLab The gel is then The gel is then

photographed and photographed and reviewed to check for reviewed to check for sufficient quantity and sufficient quantity and quality of extracted quality of extracted DNA.DNA.

If it meets these quality If it meets these quality checks, the remaining checks, the remaining DNA will be analyzed DNA will be analyzed using the technique of:using the technique of:– PCR (polymerase PCR (polymerase

chain reaction) orchain reaction) or– Southern BlotSouthern Blot

Patient DNA

Molecular Pathology Molecular Pathology LabLab Southern blot Southern blot

utilizes probe utilizes probe hybridization to hybridization to check for gene check for gene rearrangements rearrangements found in found in lymphoma of lymphoma of solid tissue.solid tissue.

Presence of multiple bands (see arrows) indicating a gene rearrangement.

Molecular Pathology Molecular Pathology LabLab

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

Molecular Pathology Molecular Pathology LabLab Computerized Computerized

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

Molecular Pathology Molecular Pathology LabLab Capillary electrophoresis printouts of PCR products Capillary electrophoresis printouts of PCR products

showing polyclonal and monoclonal results. showing polyclonal and monoclonal results. (Monoclonal findings indicate a gene rearrangement.)(Monoclonal findings indicate a gene rearrangement.)

Molecular Pathology Molecular Pathology LabLabThe resulting DNA or RNAThe resulting DNA or RNA

nucleic acid sequencesnucleic acid sequences

are then studied for:are then studied for:– unique sequencesunique sequences of of

various bacterial, fungal various bacterial, fungal or viral organismsor viral organisms

– defective genesdefective genes found in found in inherited disease such as inherited disease such as cystic fibrosiscystic fibrosis

– mutationsmutations in certain in certain cancer cellscancer cells

– translocationstranslocations in cancer in cancer cells from solid tissuecells from solid tissue

CytogeneticsCytogenetics

In this laboratory, In this laboratory, cytogenetic cytogenetic technologiststechnologists

culture cells from patient samples. Theculture cells from patient samples. The

cell cultures are induced to grow and cell cultures are induced to grow and provideprovide

chromosomes for microscopic analysis. chromosomes for microscopic analysis.

Cytogenetics LabCytogenetics Lab

Types of samples analyzed include;Types of samples analyzed include;– Prenatal (amniotic fluid, chorionic villus Prenatal (amniotic fluid, chorionic villus

sampling)sampling) purpose of determining chromosome purpose of determining chromosome

abnormalities such as Down’s syndromeabnormalities such as Down’s syndrome– Oncology (bone marrow aspirate, blood from Oncology (bone marrow aspirate, blood from

leukemia patients, tumor tissue)leukemia patients, tumor tissue) purpose of determining cancerous conditionspurpose of determining cancerous conditions

– Constitutional Studies (products of conception, Constitutional Studies (products of conception, peripheral blood) peripheral blood)

purpose of determining inherited purpose of determining inherited chromosomal disorders or abnormalitieschromosomal disorders or abnormalities

Cytogenetics LabCytogenetics Lab

Cytogenetic Cytogenetic technologists culture technologists culture cells from patient cells from patient tissue and bloodtissue and blood

The cells are induced The cells are induced to divideto divide

The cells cultures are The cells cultures are harvested and harvested and transferred to transferred to microscope slides for microscope slides for staining and analysisstaining and analysis

Cytogenetics LabCytogenetics Lab

The stained The stained chromosomes are chromosomes are analyzed with a analyzed with a computerizedcomputerized microscope to:microscope to:– analyze metaphase analyze metaphase

spreadsspreads– photograph photograph

metaphase spread to metaphase spread to provide an image to provide an image to karyotype karyotype (organize (organize chromosomes in chromosomes in homologous pairs)homologous pairs)

Cytogenetics LabCytogenetics Lab

Chromosome homologous pairs are then analyzed for chromosome abnormalities

(e.g., missing or added parts, extra chromosomes, etc).

Cytogenetics Lab - Cytogenetics Lab - FISHFISH

Cytogenetic technologists Cytogenetic technologists also perform fluorescent in also perform fluorescent in situ hybridization (FISH).situ hybridization (FISH).

FISH involves unraveling the FISH involves unraveling the DNA of chromosomes to DNA of chromosomes to attach molecular probes attach molecular probes that contain a fluorescent that contain a fluorescent signal signal

FISH allows us to view and FISH allows us to view and identify chromosomes often identify chromosomes often not detectable by not detectable by karyotyping alone karyotyping alone

This probe fluoresces chromosome telomeres a

bright green.

This probe fluoresces the whole chromosome a bright

green.

More Information…More Information…

Education & TrainingEducation & Training CertificationCertification Wages and Job OutlookWages and Job Outlook Career Advancement Career Advancement

Phlebotomy TechnicianPhlebotomy Technician

High School diploma or GEDHigh School diploma or GED Good communication skillsGood communication skills Formal course in Phlebotomy preferredFormal course in Phlebotomy preferred

– Phlebotomy programs are available through Phlebotomy programs are available through community colleges, proprietary health occupation community colleges, proprietary health occupation schools, or other academic institutionsschools, or other academic institutions..

Clinical training required Clinical training required Certification recommended (after one year work Certification recommended (after one year work

experience or formal clinical training in experience or formal clinical training in accredited program)accredited program)

Work in hospitals, physician offices, home health Work in hospitals, physician offices, home health care, clinics, insurance companiescare, clinics, insurance companies

Lab AssistantLab Assistant

High SchoolHigh School Didactic courses in Lab Skills and Computer Didactic courses in Lab Skills and Computer

Applications also preferred Applications also preferred – These can be taken in a high school These can be taken in a high school

technical/occupational health program or in a technical/occupational health program or in a community college medical assisting curriculum.community college medical assisting curriculum.

On the job clinical trainingOn the job clinical training Work in hospitals, commercial reference Work in hospitals, commercial reference

laboratories, research labslaboratories, research labs

Molecular TechnologistMolecular Technologist

Bachelor’s degreeBachelor’s degree Math (algebra) and computer applicationsMath (algebra) and computer applications Courses in biochemistry, statistics, physics, genetics, Courses in biochemistry, statistics, physics, genetics,

general microbiology, math and computer applicationsgeneral microbiology, math and computer applications Courses in Clinical Hematology, Immunohematology, Courses in Clinical Hematology, Immunohematology,

Immunology, Medical Microbiology, Clinical ChemistryImmunology, Medical Microbiology, Clinical Chemistry Completion of a NAACLS accredited MT/CLS program Completion of a NAACLS accredited MT/CLS program

or molecular biology education programor molecular biology education program National certification: National certification: CLSp(MB) or MP(ASCP)CLSp(MB) or MP(ASCP) Training, even after certification, is mostly on the job, Training, even after certification, is mostly on the job,

hands-onhands-on

Cytogenetic Cytogenetic TechnologistTechnologist

Baccalaureate degree Baccalaureate degree Courses in applied sciences, biology, Courses in applied sciences, biology,

chemistry, genetics chemistry, genetics Clinical internship in NAACLS accredited Clinical internship in NAACLS accredited

program MT/CLS or HTL programprogram MT/CLS or HTL program National certification: National certification: CLSp(CG)CLSp(CG) Training, even after certification, is Training, even after certification, is

mostly on the job, hands-onmostly on the job, hands-on

Wages & Job Outlook Wages & Job Outlook

Annual Wages Vacancy Rates

PBT $ 18,700-27,000 6.6 %MP $ 34,300-47,200 7.0 %CG $ 34,982 (mean) *

Supervisor $ 43,700-56,300 3.3 %Manager $ 53,200-65,500 1.9 %

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 AdvancementCareer Advancement

Supervisor/ManagerSupervisor/Manager

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

PhDPhD

Technical specialist Technical specialist (PhD) roles include:(PhD) roles include:– technical directing technical directing

of laboratory of laboratory sectionssections

– conducting research conducting research – reviewing and reviewing and

reporting of patient reporting of patient resultsresults

– consulting with a consulting with a patient’s physicianpatient’s physician

PathologistPathologist

Pathologist (MD or DO) Pathologist (MD or DO) roles include:roles include:– directing the directing the

laboratory laboratory – conducting researchconducting research– training residentstraining residents– reviewing and reviewing and

reporting of patient reporting of patient results results

– consulting with a consulting with a patient’s physicianpatient’s physician

Accredited Educational Accredited Educational Programs Programs

The National Accrediting Agency for Clinical The National Accrediting Agency for Clinical Laboratory Science (NAACLS) has a Laboratory Science (NAACLS) has a comprehensive listing of accredited comprehensive listing of accredited educational programs in cytogenetics and educational programs in cytogenetics and diagnostic molecular science.diagnostic molecular science.

National Accrediting Agency for Clinical National Accrediting Agency for Clinical Laboratory Sciences Laboratory Sciences

8410 W. Bryn Mawr Ave., Suite 6708410 W. Bryn Mawr Ave., Suite 670

Chicago, IL 60631-3415Chicago, IL 60631-3415

773-714-8880773-714-8880

www.naacls.orgwww.naacls.org

Certifying Agencies -Certifying Agencies - Molecular TechnologistMolecular Technologist

American Society for Clinical Pathology - American Society for Clinical Pathology - Board of Registry (ASCP-BOR) Board of Registry (ASCP-BOR)

Box 12277Box 12277

Chicago, IL 60612-0277Chicago, IL 60612-0277

www.ascp.org/borwww.ascp.org/bor National Credentialing Agency for National Credentialing Agency for

Laboratory Personnel, Inc. (NCA)Laboratory Personnel, Inc. (NCA)

P.O. Box 15945-289P.O. Box 15945-289

Lenexa, KS 66285Lenexa, KS 66285

www.nca-info.orgwww.nca-info.org

Certifying Agencies -Certifying Agencies - Cytogenetics Cytogenetics TechnologistTechnologist

National Credentialing Agency for National Credentialing Agency for Laboratory Personnel, Inc. (NCA)Laboratory Personnel, Inc. (NCA)

P.O. Box 15945-289P.O. Box 15945-289

Lenexa, KS 66285Lenexa, KS 66285

www.nca-info.orgwww.nca-info.org

SummarySummary

If you... If you... – are fascinated by scienceare fascinated by science– like to solve problemslike to solve problems– like challenge and responsibilitylike challenge and responsibility– are accurate and reliableare accurate and reliable– work well under pressurework well under pressure– communicate well andcommunicate well and– set high standards for yourself ….set high standards for yourself ….

SummarySummary

then…then…

consider a career inconsider a career in

Genetic Testing!!Genetic Testing!!