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Genetic Tests for Cancer

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Appendix A1: Glossary of Acronyms Used


Acronym Definition
EIA Enzyme immunoassay
FISH Fluorescence in-situ hybridization
ICC Immunocytochemistry
ICMA Immunochemiluminometric assay
IHC Immunohistochemistry
IRMA Immunoradiometric assay
MEIA Microparticle enzyme immunoassay
PCR Polymerase chain reaction
RIA Radioimmunoassay
RT-PCR Reverse transcriptase polymerase chain reaction


Acronym Definition
ALL Acute lymphocytic leukemia
AML Acute myelogenous leukemia
APL Acute promyelocytic leukemia
CLL Chronic lymphocytic leukemia
CML Chronic myelogenous leukemia
CTCL Cutaneous T-cell lymphoma
FAP Familial adenomatous polyposis
HNPCC Hereditary non-polyposis colon cancer
MM Multiple myeloma
NHL Non-Hodgkin's lymphoma
PNH Paroxysmal nocturnal hemoglobinuria

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Appendix A2: Synopsis of Select Commercial Diagnostic Laboratories

(Information from company Web sites)

Quest Diagnostics (Teterboro, NJ)

Quest Diagnostics is the nation's leading provider of diagnostic testing, information, and services. The information we provide to health care practitioners and consumers enables them to make better decisions and improve care. With $4.7 billion in annual revenues, Quest Diagnostics offers the broadest access to clinical testing services through its national network of 30-plus regional laboratories, approximately 155 rapid response laboratories and almost 2,000 patient service centers. Quest Diagnostics is the leading provider of specialty testing, including gene-based testing, and is the leader in routine medical testing, drugs of abuse testing, and anatomic pathology testing. Through partnerships with pharmaceutical, biotechnology and information technology companies, Quest Diagnostics provides support to help speed the development of health care insights and new therapeutics.

Laboratory Corporation of America®, LabCorp® (Burlington, NC)

LabCorp is a pioneer in genomic testing and the commercialization of new diagnostic technologies. LabCorp is one of the world's largest clinical laboratories, with annual revenues of $3.1 billion in 2004. Headquartered in Burlington, North Carolina, LabCorp has more than 23,500 employees and offers more than 4,400 clinical tests ranging from routine blood analyses to the most sophisticated molecular diagnostics. LabCorp tests more than 340,000 specimens daily for over 220,000 clients nationwide.

Specialty Laboratories (Valencia, CA)

Specialty Laboratories is a leading hospital-focused clinical reference laboratory that performs highly advanced, clinically useful testing services for hospitals, laboratories and physician specialist communities nationwide. With an extensive menu of clinical tests for the diagnosis and treatment-management of disease, Specialty offers clients a single-source solution for their esoteric testing needs. Specialty also supports its test offering with distinguished R&D capabilities. Through internal research programs and technology partnerships, Specialty develops new and enhanced clinical tests for reliable and cost-effective patient assessment.

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Appendix A3: Additional Companies and Web Sites

Company Web site URL
Applied Imaging Corp
Cangene Biotech
Ciphergen Biosystems
Fujirebio Diagnostics
Genomic Health
GMP Companies
Health Discovery Corporation
IMI Medical
Matritech Inc.
Microprevention Tests  no Web site found
Myriad Genetics
Orion Genomics
Quest Diagnostics
Specialty Laboratories
Tm Bioscience
Tripath Imaging

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Appendix A4: Exploratory MEDLINE Search Strategy: Genetic Tests for 10 Cancers

Ovid MEDLINE(R) 1966 to June Week 5 2005

# Search History Results
1 exp "sensitivity and specificity" 182609
2 exp Predictive Value of Tests/ 61018
3 exp ROC CURVE/ 7998
4 exp Mass Screening/ 69062
5 exp diagnosis/ 3543147
7 exp false negative reactions/ or false positive reactions/ 24280
8 predictive 26661
9 (sensitivity or specificity).tw. 386606
10 90063
11 150990
12 5785
13 23848
14 (false positive or false negative).tw. 27567
15 likelihood 2116
16 or/1-15 3980953
17 exp genetic screening/ 12094
18 ((gene or genes or genetic$) and (diagno$ or test$ or screen$)).tw. 169073
19 or/17-18 174880
20 exp cell culture techniques/ 11135
21 exp cell line/ 355216
22 In Vitro/ 330724
23 exp biological assay/ 24262
24 exp tumor stem cell assay 3161
25 or/20-24 707287
26 (16 and 19) not 25 70418
27 limit 26 to humans 16623
28 26 not 27 53795
29 limit 28 to english language 48399
30 limit 29 to (addresses or bibliography or biography or case reports or congresses or consensus development conference or consensus development conference, nih or dictionary or directory or editorial or festschrift or government publications or guideline or interview or lectures or legal cases or legislation or letter or meta analysis or news or newspaper article or patient education handout or periodical index or practice guideline or "review" or review, academic or "review literature" or review, multicase or "review of reported cases" or review, tutorial) 12504
31 29 not 30 35895
32 exp prostate neoplasms/ 46076
33 31 and 32 352
34 limit 33 to yr=" 2000-2005" 255
35 exp ovarian neoplasms/ 39000
36 31 and 35 573
37 limit 36 to yr=" 2000-2005" 354
38 exp colonic neoplasms/ 45633
39 31 and 38 361
40 limit 39 to yr=" 2000-2005" 164
41 exp lung neoplasms/ 101151
42 31 and 41 428
43 limit 42 to yr=" 2000-2005 258
44 exp leukemia/ 141459
45 31 and 44 922
46 limit 45 to yr=" 2000-2005 400
47 exp lymphoma, non-hodgkin/ 53794
48 31 and 47 491
49 limit 48 to yr=" 2000-2005" 256
50 exp breast neoplasms/ 122806
51 31 and 50 1501
52 limit 51 to yr=" 2000-2005" 902
53 exp esophageal neoplasms/ 22840
54 31 and 32 88
55 limit 33 to yr="2000 - 2005" 52
56 exp liver neoplasms/ 79138
57 31 and 35 210
58 limit 36 to yr="2000 - 2005" 123
59 exp pancreatic neoplasms/ 31833
60 31 and 38 171
61 limit 39 to yr="2000 - 2005" 110
62 33 or 36 or 39 or 42 or 45 or 48 or 51 or 54 or 57 or 60 4492
63 34 or 37 or 40 or 43 or 46 or 49 or 52 or 55 or 58 or 61 2519

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Appendix A5: Sample Titles from Searches of the Gray Literature Databases

a. LexisNexis

"Collaboration to focus on the role of DNA in colon cancer detection"
"Tm Bioscience to manufacture novel breast cancer risk testing reagents for Intergenetics"
"Matritech says study data show its bladder-cancer test is cost-effective"

b. Cambridge Healthtech Institute (CHI)

"Abbott Data Published in Nature Reveals A Promising New Approach to Cancer"
"ACADIA Pharmaceuticals Expands Technology Platform to Target Tyrosine Kinase Linked Receptors"
"Broad Institute to Conduct Large-Scale Genotyping Project Using Affymetrix Technology."

c. Computer Retrieval of Information on Scientific Projects (CRISP)

"Genetic Abnormalities Early on the Path of Breast Cancer"
"CYP1A1 and CYP1B1 genes in race-related Prostate Cancer"
"LEF/TCF Expression in Colon Cancer"

d. Web of Knowledge

"Induction of Th1-type immunity and tumor protection with a prostate-specific antigen DNA vaccine"
"Pituitary tumor transforming gene (PTTG) induces genetic instability in thyroid cells"
"Novel mechanism of inhibition of nuclear factor-kappa B DNA-binding activity by diterpenoids isolated from Isodon rubescens"

e. Early Detection Research Network (EDRN)

f. National Research Register (NRR)

"Analysis of BRCA1 gene mutations in familial and early onset breast cancer"
"An investigation of susceptibility genes for prostate cancer"
"Analysis of expression of RNA profiles in primary breast cancer"

g. Canadian Institute of Scientific and Technical Information (CISTI)

"Detection of Metastatic Potential in Breast Cancer by Rho-GTPase and WISP3 Proteins"
"Identification of HP1 Target Genes Involved in Progression of Breast Cancer"
"Investigation of Alpha6 Integrins and Their Signaling Intermediates as Prognostic Markers for Breast Cancer"

h. Google

"New Test Predicts Breast Cancer Risk"
"New Gene Chip may be Cancer Diagnostic Tool"
"Silenced Gene Suggests Greater Risk, Possible Marker For African-Americans With Prostate Cancer"

i. Clinical Laboratory Improvement Amendments (CLIA)

"Abbott Architect I2000 system (Fujirebio Diagnostics Inc, Architect CA 15-3 reagent kit)"
"Asymmetrx prostate-63 cancer diagnostic reagent"
"TOSOH AIA-360 (ST AIA Pack 27.29)"

j. The Office of In Vitro Diagnostics Device Evaluation and Safety (OIVD)

"Dakocytomation HER2 FISH PharmDx Kit"
"Urovysion bladder cancer kit"
"Architect CA 15-3 assay"

k. FDA Pre-market Approval

"immunochemistry analyzer"
"prostate specific antigen (PSA) for detection and management of prostate cancers"
"digital mammographic x-ray system"


"Microarray Analysis for Human Genetic Disease"
"Genetic and Environmental Risk Assessment for Colorectal Cancer in Healthy Participants"
"Microsatellite Analysis of Urinary Sediment in Detecting Bladder Cancer"

m. Online Computer Library Center (OCLC)’s FirstSearch

"Novel Pentablock Copolymers as Non-Viral Vectors for Gene Therapy against Cancer"
"451-034: Fuzzy Neural Network Applications for Gene Selection and Cancer Classification"
"APC, K-ras, and p53 Gene Mutations in Colorectal Cancer Patients: Correlation to Clinicopathologic Features and Postoperative Surveillance"

n. Health Technology Assessment Database (HTA)

"Screening for ovarian cancer: a systematic review"
"Genetic diagnosis by PCR," and
"Colorectal cancer screening."

o. NY Academy of Medicine

"Community health profiles: the health of Southwest Brooklyn"
"FDA hinders cancer vaccines"
"Fulfilling the potential of cancer prevention and early detection: an American Cancer Society and Institute of Medicine Symposium"

p. GrayLIT Network

"Cancer risk assessment: Should new science be applied? A workgroup summary"
"Targeting human breast cancer cells that overexpress HER-2/neu mRNA by an antisense iron responsive element"
"Investigation of the candidate tumor suppressor gene PRK in prostate cancer"

q. Health Services Research Projects in Progress (HSRProj)

"Improving palliative care in chronic critical illness"
"Mammography disparities in elderly African American women"
"Socio-ecological variables/cancer screening behaviors"

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Prepared for AHRQ under Contract No. 290-02-0022. By Kevin M. Chin, M.D., M.S., Benjamin Wessler, B.A., Priscilla Chew, M.P.H., and Joseph Lau, M.D.; Tufts-New England Medical Center Evidence-based Practice Center.

Current as of January 2006

The information on this page is archived and provided for reference purposes only.


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