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Research Article| Volume 16, ISSUE 1, P213-222, March 1996

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Diagnostic Molecular Pathology in the Twenty-first Century

  • Frederick L. Kiechle
    Correspondence
    Address reprint requests to: Frederick L. Kiechle, MD, PhD, Department of Clinical Pathology, William Beaumont Hospital, 3601 West Thirteen Mile Road, Royal Oak, MI 48073
    Affiliations
    From the Department of Clinical Pathology, William Beaumont Hospital, Royal Oak; and the Department of Pathology, Wayne State University School of Medicine, Detroit, Michigan
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      This paper is only available as a PDF. To read, Please Download here.
      Diagnostic molecular pathology is expanding rapidly with the aid of the Human Genome Project and the development of potentially user-friendly molecular diagnostic methods. The diagnostic molecular pathology laboratory of the future must be prepared to purify DNA or RNA from a variety of sources and to investigate the sequence of the target genome of interest using automated amplification and hybridization detection systems. There will be a shift in the emphasis from phenotypic to genotypic diagnosis, and the diagnostic molecular pathology laboratory of the early twenty-first century will perform 5% to 10% of the volume of all laboratory testing.
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      References

        • American College of Medical Genetics
        Prenatal interphase fluorescence in situ hybridization (FISH) policy statement.
        Am J Hum Genet. 1993; 53: 526
        • Anhalt J.P.
        • Witebsky F.G.
        • Woods G.L.
        College of American Pathologists position statement regarding rapid detection of Mycobacterium tuberculosis.
        Arch Pathol Lab Med. 1993; 117: 873
        • Annas G.J.
        Setting standards for the use of DNA-typing results in the courtroom—the state of the art.
        N Engl J Med. 1992; 326: 1641
        • Aramaki S.
        • Yoshida I.
        • Yoshino M.
        • et al.
        Carbonic anhydrase II deficiency in three unrelated Japanese patients.
        J Inher Metab Dis. 1993; 16: 982
        • Barrell B.
        DNA sequencing: present limitations and prospects for the future.
        FASEB J. 1991; 5: 40
        • Begovich A.B.
        • Erlich H.A.
        HLA typing for bone marrow transplantation. New polymerase chain reaction-based methods.
        JAMA. 1995; 273: 586
        • Beyler S.A.
        Diagnosis of genetic disease in the preimplantation embryo.
        Lab Med. 1993; 24: 642-647
        • Bianchi D.W.
        • Shuber A.P.
        • DeMaria M.A.
        • et al.
        Fetal cells in maternal blood: Determination of purity and yield by quantitative polymerase chain reaction.
        Am J Obstet Gynecol. 1994; 171: 922
        • Bloch W.
        A biochemical perspective of the polymerase chain reaction.
        Biochemistry. 1991; 30: 2735
        • Chemesky M.A.
        • Jang D.
        • Lee H.
        • et al.
        Diagnosis of Chlamydia trachomatis infections in men and women by testing first-voided urine by ligase chain reaction.
        J Clin Microbiol. 1994; 32: 2682
        • Cline M.J.
        The molecular basis of leukemia.
        N Engl J Med. 1994; 330: 328
        • Compton J.
        Nucleic acid sequence-based amplification.
        Nature. 1991; 350: 91
      1. DiMauro S Wallace DC Mitochondrial DNA in Human Pathology. Raven Press, New York1993
        • Eggers M.
        • Hogan M.
        • Reich R.K.
        • et al.
        A microchip for quantitative detection of molecules utilizing luminescent and radioisotope reporter groups.
        BioTechniques. 1994; 17: 516
        • Farkas D.H.
        Establishing a clinical molecular biology laboratory.
        in: Farkas DH Molecular Biology and Pathology. Academic Press, San Diego1993
        • Fathallah D.M.
        • Bejaoui M.
        • Sly W.S.
        • et al.
        A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent.
        Hum Genet. 1994; 94: 581
        • Findlay J.B.
        • Atwood S.M.
        • Bergmeyer L.
        • et al.
        Automated closed-vessel system for in vitro diagnostic based on polymerase chain reaction.
        Clin Chem. 1993; 39: 1927
        • Garrett C.T.
        • Ferreira-Centeno A.
        • Nasim S.
        Molecular diagnostics: issues of utilization, regulation and organization.
        Clin Chim Acta. 1993; 217: 85
        • Gershon D.
        DNA diagnostic tools for the 21st century.
        Nature Med. 1995; 1: 102
        • Green E.D.
        • Waterston R.H.
        The human genome project. Prospects and implications for clinical medicine.
        JAMA. 1991; 266: 1966
        • Grody W.W.
        The coming era of cancer genetic screening.
        Diagn Mol Pathol. 1994; 3: 145
      2. Guidelines for the molecular genetics predictive test in Huntington’s disease.
        Neurology. 1994; 44: 1533
        • Hoskins K.F.
        • Stopfer J.E.
        • Calzone D.A.
        • et al.
        Assessment and counseling for women with a family history of breast cancer: A guide for clinicians.
        JAMA. 1995; 273: 577
        • Hu P.Y.
        • Ernst A.R.
        • Sly W.S.
        • et al.
        Carbonic anhydrase II deficiency: Single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.
        Am J Hum Genet. 1994; 54: 602
        • Kiechle F.L.
        Molecular biology of porphyrias.
        Lab Med. 1993; 24: 648
        • Kiechle F.L.
        Residency in pathology: The William Beaumont Hospital perspective.
        Am J Clin Pathol. 1993; 100: S29
      3. Kiechle FL, Chambers LM, Cox RS, et al (eds): Patient Preparation and Specimen Handling Fascicle VII. Reference Guide for Diagnostic Molecular Pathology and Flow Cytometry. Northfield, College of American Pathologists, in press

        • Kiechle F.L.
        • Holmes R.D.
        Molecular biology of leukodystrophies.
        Lab Med. 1994; 25: 658
        • Kiechle F.L.
        • Malinski T.
        Nitric oxide: Biochemistry, pathophysiology and detection.
        Am J Clin Pathol. 1993; 100: 567
        • Kiechle F.L.
        • Quattrociocchi-Longe T.M.
        The role of the molecular probe laboratory in the 21st century.
        Lab Med. 1992; 23: 758
        • Koller E.
        • Karlic H.
        • Krieger O.
        • et al.
        Early detection of minimal residual disease by reverse transcriptase polymerase chain reaction.
        Ann Hematol. 1995; 70: 75
        • Kristjansson K.
        • Chong S.S.
        • van den Veyver I.B.
        • et al.
        Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification.
        Nature Genet. 1994; 6: 19
        • Laitala T.
        • Väänänen H.K.
        Inhibition of bone resorption in vitro by antisense RNA and DNA molecules targeted against carbonic anhydrase II or two subunits of vacuolar H+-ATPase.
        J Clin Invest. 1994; 93: 2311
        • Landegren D.A.U.
        DNA probes and automation.
        Curr Biol. 1992; 3: 12
        • Lerman C.
        • Croyle R.
        Psychological issues in genetic testing for breast cancer susceptibility.
        Arch Intern Med. 1994; 154: 609
        • Levy M.
        • Pirson Y.
        • Simon P.
        • et al.
        Evaluation in patients with Alport syndrome of knowledge of disease and attitudes toward prenatal diagnosis.
        Clin Nephrol. 1994; 42: 211
        • Makowski G.S.
        • Aslanzadeh J.
        • Hopfer S.M.
        In situ PCR amplification of Guthrie card DNA to detect cystic fibrosis mutations.
        Clin Chem. 1995; 41: 477
        • Matta N.
        Training new technologists in the basics of molecular pathology.
        Lab Med. 1993; 24: 636
        • McEwen J.E.
        • Reilly P.R.
        A review of state legislation on DNA forensic data banking.
        Am J Hum Genet. 1994; 54: 941
        • McKusick V.A.
        Current trends in mapping human genes.
        FASEB J. 1991; 5: 12
        • Millan K.M.
        • Saraullo A.
        • Mikkelsen S.R.
        Voltammetric DNA biosensor for cystic fibrosis based on a modified carbon paste electrode.
        Anal Chem. 1994; 66: 2943
        • Miller N.
        • Vile R.
        Targeted vectors for gene therapy.
        FASEB J. 1995; 9: 190
        • Moncada S.
        The L-arginine: Nitric oxide pathway.
        Acta Physiol Scand. 1992; 145: 201
        • Moncada S.
        • Higgs A.
        The L-arginine-nitric oxide pathway.
        N Engl J Med. 1993; 329: 2002
        • Montarras D.
        • Pinset C.
        • Chelly J.
        • et al.
        RT-PCR and gene expression.
        in: Mullis KB Ferre J Gibbs RA The Polymerase Chain Reaction. Birkhauser, Boston1994: 277
        • Mullen C.A.
        Metabolic suicide genes in gene therapy.
        Pharmacol Ther. 1994; 63: 199
        • Nagao Y.
        • Platero J.S.
        • Waheed A.
        • et al.
        Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16.
        Proc Natl Acad Sci USA. 1993; 90: 7623
        • Naylor C.D.
        • Williams J.I.
        • Basinski A.
        • et al.
        Technology assessment and cost effectiveness analysis: Misguided guidelines?.
        Can Med Assoc J. 1993; 148: 921
        • Newgard C.B.
        Cellular engineering and gene therapy strategies for insulin replacement in diabetes.
        Diabetes. 1994; 43: 341
        • Nilsson P.
        • Persson B.
        • Uhlén M.
        • et al.
        Real-time monitoring of DNA manipulations using biosensor technology.
        Anal Biochem. 1995; 224: 400
        • Norby S.
        Screening for the two most frequent mutations in Leber’s hereditary optic neuropathy by duplex PCR based on allele-specific amplification.
        Hum Mutation. 1993; 2: 309
        • Nuovo G.J.
        PCR in situ Hybridization. Protocols and Applications. ed 2. Raven Press, New York1994
        • O’Neil W.K.
        • Peaudet A.L.
        Somatic gene therapy for cystic fibrosis.
        Hum Mol Genet. 1994; 3: 1497
        • Park V.
        • Howard-Peebles P.
        • Sherman S.
        • et al.
        Policy statement: American College of Medical Genetics. Fragile X syndrome: Diagnostic and carrier testing.
        Am J Med Genet. 1994; 53: 380
        • Pease Q.C.
        • Solas D.
        • Sullivan E.J.
        • et al.
        Light-generated oligonucleotide arrays for rapid DNA sequence analysis.
        Proc Natl Acad Sci USA. 1994; 91: 5022
        • Pierga J.Y.
        • Magdelenat H.
        Applications of antisense oligonucleotides in oncology.
        Cell Mol Biol. 1994; 40: 237
        • Piunno P.A.E.
        • Krull U.J.
        • Hudson R.H.E.
        • et al.
        Fiber optic biosensor for fluorimetric detection of DNA hybridization.
        Anal Chim Acta. 1994; 288: 205
        • Pokorski R.J.
        Genetic information and life insurance.
        Nature. 1995; 376: 13
        • Quaid K.A.
        • Wesson M.K.
        Exploration of the effects of predictive testing for Huntington disease on intimate relationships.
        Am J Med Genet. 1995; 57: 46
        • Rossiter J.F.
        • Caskey C.T.
        Clinical applications of the polymerase chain reaction.
        in: Mullis KB Ferre F Gibbs RA The Polymerase Chain Reaction. Birkhauser, Boston1994: 395
        • Roth D.E.
        • Venta P.J.
        • Tashian R.E.
        • et al.
        Molecular basis of human carbonic anhydrase II deficiency.
        Proc Natl Acad Sci USA. 1992; 89: 1804
        • Schafer A.I.
        Hypercoagulable states: Molecular genetics to clinical practice.
        Lancet. 1994; 344: 1739
        • Shah J.S.
        • Liu J.
        • Smith J.
        • et al.
        Novel, ultrasensitive, Q-beta replicase-amplified hybridization assay for detection of Chlamydia trachomatis.
        J Clin Microbiol. 1994; 32: 2718
        • Simpson S.A.
        • Harding A.E.
        Predictive testing for Huntington’s disease: After the gene.
        J Med Genet. 1993; 30: 1036
        • Stein C.A.
        • Cheng Y-C
        Antisense oligonucleotides as therapeutic agents—is the bullet really magical?.
        Science. 1993; 261: 1004
        • Swaminathan B.
        • Feng P.
        Rapid detection of food-borne pathogenic bacteria.
        Annu Rev Microbiol. 1994; 48: 401
        • Takenaka S.
        • Uto Y.
        • Kondo H.
        • et al.
        Electrochemically active DNA probes: Detection of target DNA sequences at femtomole level by high performance liquid chromatography with electrochemical detection.
        Anal Biochem. 1994; 218: 436
        • Thomae K.R.
        • Geller D.A.
        • Billiar T.R.
        • et al.
        Antisense oligodeoxynucleotide to inducible nitric oxide synthase inhibits nitric oxide synthesis in rat pulmonary artery smooth muscle cells in culture.
        Surgery. 1993; 114: 272
        • Tiberghien P.
        Use of suicide genes in gene therapy.
        J Leukocyte Biol. 1994; 56: 203
        • Tompkins L.S.
        The use of molecular methods in infectious diseases.
        N Engl J Med. 1992; 327: 1290
        • Tu C.
        • Couton J.M.
        • van Heeke G.
        • et al.
        Kinetic analysis of a mutant (His107→Tyr) responsible for human carbonic anhydrase II deficiency syndrome.
        J Biol Chem. 1993; 268: 4775
        • Tullis R.H.
        Ultrasensitive nonradioactive detection of PCR reactions: an overview.
        in: Mullis KB Ferre F Gibbs RA The Polymerase Chain Reaction. Birkhauser, Boston1994: 123
        • Venta P.J.
        • Welty R.J.
        • Johnson T.M.
        • et al.
        Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (His107→Tyr): Complete structure of the normal human CA II gene.
        Am J Hum Genet. 1991; 49: 1082
        • Walker R.H.
        Molecular pathology programs of the College of American Pathologists.
        Lab Med. 1994; 25: 654
        • Wedell A.
        • Thilen A.
        • Ritzen E.M.
        • et al.
        Mutational spectrum of the steroid 21-hydroxylase gene in Sweden. Implications for genetic diagnosis and association with disease manifestation.
        J Clin Endocrinol Metab. 1994; 78: 1145
        • Weiss J.B.
        DNA probes and PCR for diagnosis of parasite infections.
        Clin Microbiol Rev. 1995; 8: 113
        • Wertz D.C.
        • Fanos J.H.
        • Reilly P.R.
        Genetic testing for children and adolescents. Who decides?.
        JAMA. 1994; 272: 875
        • Wertz D.C.
        • Janes S.R.
        • Rosenfield J.M.
        • et al.
        Attitudes toward the prenatal diagnosis of cystic fibrosis: Factors in decision making among affected families.
        Am J Hum Genet. 1992; 50: 1077
        • Wiedbrauk D.L.
        • Drevon A.M.
        Introduction to molecular methods.
        in: Wiedbrauk DL Farkas DH Molecular Methods for Virus Detection. Academic Press, San Diego1995
        • Wilding P.
        • Shoffner M.A.
        • Kricka L.J.
        PCR in a silicon microstructure.
        Clin Chem. 1994; 40: 1815
        • Wilfond B.S.
        • Nolan K.
        National policy development for the clinical application of genetic diagnostic technologies. Lessons from cystic fibrosis.
        JAMA. 1993; 270: 2948
        • World Federation of Neurology
        Research Committee Research Group on Huntington’s Chorea. Ethical issues policy statement on Huntington’s disease molecular genetics predictive test.
        J Neurol Sci. 1989; 94: 327
        • Xue Y.
        • Liljas A.
        • Jonsson B-H
        • et al.
        Structural analysis of the zinc hydroxide-Thr-199-Glu-106 hydrogen-bond network in human carbonic anhydrase II.
        Proteins: Structure Function Genet. 1993; 17: 93
        • Yourno J.
        A method for nested PCR with single closed reaction tubes.
        PCR Methods Appl. 1992; 2: 60