DNA somatic mutation 4 5 genetic disease genetic inherited illness 6 somatic cell genetic disease 7 genetic disease genetic screening 4

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1 genetic testing Genetic Information Law DNA DNA (d) DNA RNA 3 DNA DNA DNA DNA 1 GRAEME LAURIE, GENETIC PRIVACY: A CHALLENGE TO MEDICO-LEGAL NORMS 86 (2002). 2 Genetic Information Law, , available at (last visited June 6, 2003) Fed. Reg (2000).

2 DNA somatic mutation 4 5 genetic disease genetic inherited illness 6 somatic cell genetic disease 7 genetic disease genetic screening 4 ROBERT F. WEAVER & PHILIP W. HEDRICK /9 5 6 See, e.g., RICKI LEWIS, HUMAN GENETICS: CONCEPTS AND APPLICATIONS (4 th ed. 2001) See, e.g., ADVISORY COMMITTEE ON GENETIC TESTING, GENETIC TESTING FOR LATE ONSET DISORDERS 8 (1998), available at (last visited June 15, 2003). 7 See, e.g., LEROY WALTERS & JULIE GAGE PALMER, THE ETHICS OF HUMAN GENE THERAPY (1997) On-Line Medical Dictionary genetic disease A disease, such as cystic fibrosis, that has its origin in changes to the genetic material, DNA. Usually refers to diseases that are inherited in a Mendelian fashion, although noninherited forms of cancer also result from DNA mutation. On-Line Medical Dictionary, at (last visited June 12, 2003) 8 the Task Force on Genetic Testing ELSI genetic test DNA RNA See NEIL A. HOLTZMAN & MICHAEL S. WATSON EDS., PROMOTING SAFE AND EFFECTIVE GENETIC TESTING IN THE UNITED STATES: FINAL REPORT OF THE TASK FORCE ON GENETIC TESTING 6 (1998).

3 DNA DNA Human Genetics 3-2 CAT CAT CAT CAT CAT 9 See NUFFIELD COUNCIL ON BIOTETHICS, GENETIC SCREENING: ETHICAL ISSUES 3 (1993); Darren Shickle, The Wilson And Jungner Principles Of Screening And Genetic Testing, in THE ETHICS OF GENETIC SCREENING 1-2 (Ruth Chadwick et al. eds., 1999); Judit Sandor, Genetic testing, genetic screening and Privacy, in THE ETHICS OF GENETIC SCREENING (Ruth Chadwick et al. eds., 1999); BRITISH MEDICAL ASSOCIATION, HUMAN GENETICS: CHOICE AND RESPONSIBILITY (1998). 10 Shickle, supra note 9, at /3

4 CAT CTT CAT CAT CAT CAT CTCATCATCATC CAG TCA TCA TCA TCA 3-1 DNA 12 normal missense nonsense frameshift deletion insertion THE ONE BIG FLY HAD ONE RED EYE THQ ONE BIG FLY HAD ONE RED EYE THE ONE BIG THE ONE QBI GFL YHA DON ERE DEY THE ONE BIG HAD ONE RED EYE THE ONE BIG WET FLY HAD ONE RED EYE duplication THE ONE BIG FLY FLY HAD ONE RED EYE expanding mutation generation 1 THE ONE BIG FLY HAD ONE RED EYE generation 2 THE ONE BIG FLY FLY FLY HAD ONE RED EYE generation 3 THE ONE BIG FLY FLY FLY FLY FLY FLY HAD 2001). ONE RED EYE 3-2 RICKI LEWIS, HUMAN GENETICS: CONCEPTS AND APPLICATIONS 191 (4 th ed. sickle cell disease DNA CTC mrna GAG glutamic acid DNA CAC mrna GUG valine XI factor XI deficiency glutamic acid GAA UAA 12 codon

5 Duchenne muscular dystrophy dystrophin Gaucher disease lysosomes glycolipids tandem duplication Charcot-Marie-Tooth disease myotonic dystrophy expanding triplet repeat disorder DNA 苷 CTG 13 DNA mitochondrial myopathy leber's hereditary optic neuropathy trna rrna MELAS DNA DNA 13 See LEWIS, supra note 6, at See id. at

6 band p cri du chat cry-of-the-cat 5% 17 Duplications Deletions Inversions Translocations Autopolyploids Euploidy Allopolyploids Aneuploidy Monosomies Trisomies 3-1 Robert F. Weaver & Philip W. Hedrick /9 16 Angela E. Scheuerle, Diagnosis of Genetic Disease, in GENETICS IN THE CLINIC: CLINICAL, ETHICAL, AND SOCIAL IMPLICATIONS FOR PRIMARY CARE 23 (Mary B. Mahowald et al. eds., 2001). 17 ROBERT F. WEAVER & PHILIP W. HEDRICK /9

7 DNA ( ) ( ) ( ) 1. cytogenetics 18 banding 19 fluorescence in situ hybridization, FISH probe karyotype MARK L. STEINBERG & SHRON D. COSLOY /12 19 See Scheuerle, supra note 16, at See SACK, JR., MEDICAL GENETICS 21, 42 (1999).

8 2. DNA testing DNA ASO cystic fibrosis X fragile X syndrome DNA linkage analysis polymorphisms 21 DNA SSCP DGGE CCM RCA EMC RED DNA 22 sequencing AS-PCR LMA 3. biochemical testing 21 See Scheuerle, supra note 16, at /3

9 23 24 substrate 25 phenylketonuria, PKU phenylalanine homocystinuria 28 galactosemia 23 NUFFIELD COUNCIL ON BIOTETHICS, supra note 9, at See SACK, JR., supra note 20, at See Scheuerle, supra note 16, at NUFFIELD COUNCIL ON BIOTETHICS, supra note 9, at /1/

10 - - galactose-1-phosphate 29 congenital hypothyroidism glucose-6-phosphate dehydrogenase deficiency; G6PD deficiency G6PD Tandem Mass G6PD /1/ /1/ /1/ /1/ % G6PD /1/12 See W. Harry Hannon et al., Newborn Screening Quality Assurance, in GENETICS AND PUBLIC HEALTH IN THE 21ST CENTURY: USING GENETIC INFORMATION TO IMPROVE HEALTH AND PREVENT DISEASE 254 (Muin J. Khoury et al. eds., 2000). 33 Q&A /10/10 34 Q&A /10/ /12/13

11 35 Chaim Weizmann genetic determinism ROBERT F. WEAVER & PHILIP W. HEDRICK /9 37 Robert Wachbroit, Genetic Determinism, Genetic Reductionism, and Genetic Essentialism, in ENCYCLOPEDIA OF ETHICAL, LEGAL, AND POLICY ISSUES IN BIOTECHNOLOGY 353 (Thomas H. Murray & Maxwell I. Mehlman eds., 2000). 38 Celeste M. Condit et al., Principles, and Practices of Communication Processes for Genetics in Public Health, in GENETICS AND PUBLIC HEALTH IN THE 21ST CENTURY: USING GENETIC INFORMATION TO IMPROVE HEALTH AND PREVENT DISEASE 558 (Muin J. Khoury et al. eds., 2000). 39 Søren Holm, There Is Nothing Special about Genetic Information, in GENETIC INFORMATION: ACQUISITION, ACCESS, AND CONTROL 98 (Alison K. Thompson & Ruth F. Chadwick eds., 1999) 40 Wachbroit, supra note 37, at 353. Emilio Mordini, Linear

12 sound science unsound science Destiny and Geometric Fate, in GENETIC INFORMATION: ACQUISITION, ACCESS, AND CONTROL 310 (Alison K. Thompson & Ruth F. Chadwick eds., 1999); Jacquelyn Ann K. Kegley, A New Framework for the Use of Genetic Information, in GENETIC INFORMATION: ACQUISITION, ACCESS, AND CONTROL 322 (Alison K. Thompson & Ruth F. Chadwick eds., 1999); Sherwin Chen, Negotiating a Policy of Prudent Science and Proactive Law in the Brave New World of Genetic Information, 53 HASTINGS L.J. 243, 252 (2001) /5 41 Don W. Brock genetic disease See Don W. Brock, Implications of Genetics for Concepts of Disease, in GENETICS IN THE CLINIC: CLINICAL, ETHICAL, AND SOCIAL IMPLICATIONS FOR PRIMARY CARE (Mary B. Mahowald et al. eds., 2001) Jacquelyn Ann K. Kegley

13 UCA UCG serine 42 DNA penetrance 3. (1) (2) polygenic disorder (3) multifactorial disorder 45 See Kegley, supra note 40, at ROBERT F. WEAVER & PHILIP W. HEDRICK 296, /9 43 WALTERS & PALMER, supra note 7, at BRITISH MEDICAL ASSOCIATION, supra note 9, at Id.

14 1. 46 (1) distal symphalangism (2) carrier 1/2 1/4 1/4 lysosomal storage disease (3) X X X (4) X X X 46 LEWIS, supra note 6, at 72.

15 incontinentia pigmenti 47 Y Y 48 multiple alleles incomplete dominance codominance familial hypercholesterolemia ABO See id. at 72-76, ; BRITISH MEDICAL ASSOCIATION, supra note 9, at Y Y ROBERT F. WEAVER & PHILIP W. HEDRICK /9 49 See LEWIS, supra note 6, at 86-88, pyloric stenosis 0.3% 40% ROBERT F. WEAVER & PHILIP W. HEDRICK /9

16 5/ expressivity ROBERT F. WEAVER & PHILIP W. HEDRICK /9 52 See BRITISH MEDICAL ASSOCIATION, supra note 9, at 30, 34; NUFFIELD COUNCIL ON BIOTETHICS, supra note 9, at 9; WALTERS & PALMER, supra note 7, at ELSI /11/30

17 DNA RNA DNA

18 genetic counseling interested-based approach See Shelly A. Cummings, Genetic Counseling in the Primary Care Setting, in GENETICS IN THE CLINIC: CLINICAL, ETHICAL, AND SOCIAL IMPLICATIONS FOR PRIMARY CARE (Mary B. Mahowald et al. eds., 2001). 55 See Brian Wynne, Scientific Knowledge and the Global Environment, in SOCIAL THEORY AND THE GLOBAL ENVIRONMENT (Michael Redclift & Ted Benton eds., 1994)

19 MICHIEL SCHWARZ & MICHAEL THOMPSON, DIVIDED WE STAND: REDEFINING POLITICS, TECHNOLOGY AND SOCIAL CHOICE 19 (1990). 57 See Wynne, supra note 55, at 183; SCHWARZ & THOMPSON, supra note 56, at 36, See also Jerome R. Ravetz, Recombinant DNA Research: Whose risk, in THE MERGER OF KNOWLEDGE WITH POWER: ESSAYS IN CRITICAL SCIENCE 64 (Jerome R. Ravetz, 1990) /12/5 59 See James E. Bowman, Cultural and Ethnic Differences in Genetic Testing, in GENETICS IN THE CLINIC: CLINICAL, ETHICAL, AND SOCIAL IMPLICATIONS FOR PRIMARY CARE (Mary B. Mahowald et al. eds., 2001). 60 See Condit et al., supra note 38, at

20 Attention Deficit-Hyperactivity Disorder, ADHD indeterminacy 64 wild type FRANCIS FUKUYAMA 77-89, / , 27-28, 33, /7 64 Indeterminacy uncertainty uncertainty See Wynne, supra note 55, at

21 65 65 Ruth Hubbard & Elijah Wald, Genetic Testing Threaten Society, in BIOMEDICAL ETHICS: OPPOSING VIEWPOINTS (Tamara L. Roleff ed., 1998).

1. 2. 3. 69 70 71 72 the Institution of Medicine 1. 2. 3. entire population 1. 2. 69 D. SHICKLE & I. HARVEY, SCREENING FOR CYSTIC FIBROSIS CARRIER STA

1. 2. 3. 69 70 71 72 the Institution of Medicine 1. 2. 3. entire population 1. 2. 69 D. SHICKLE & I. HARVEY, SCREENING FOR CYSTIC FIBROSIS CARRIER STA 3.2 3.2.1 66 3.1.1 3.2.3 67 68 66 Philip M. Farrell et al., Newborn Screening for Cystic Fibrosis in Wisconsin: First Application of Population-based Molecular Genetic testing, 93 WIS MED J 415-21 (1994),