Myriad案後基因檢測產業之問題與挑戰 - 政大學術集成

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(2) •‧. •‧ 國. ㈻㊫學. Myriad. 立立. 政治大. io. sit. y. Nat. Problems and Challenges of Genetic Testing n. er. v Case Industrya l after Myriad ni C hengchi U.

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(15) Myriad. 1980 (isolated gene). DNA(cDNA). Myriad. 2013. cDNA. 治. Myriad 政. 立立. Myriad. 2013. 6. 13. Myriad. •‧ 國. ㈻㊫學. 7.78. DNA. n. al. er. io. sit. y. Nat. (intron). •‧. 26.92%. Myriad. 大. Ch. n engchi U DNA. 1. iv. Myriad.

(16) Myriad. The Association for Molecular Pathology et al. v. USPTO and Myriad 治 Genetics, INC. 立立. 政. 大. •‧. •‧ 國. ㈻㊫學. n. er. io. sit. y. Nat al. Ch. n engchi U. iv. The Association for Molecular Pathology et al. v. USPTO and Myriad Genetics, INC. 2.

(17) 立立. 政治大. •‧. •‧ 國. ㈻㊫學. n. al. er. io. sit. y. Nat. -. Ch. n engchi U. iv. The Association for Molecular Pathology et al. v. USPTO and Myriad Genetics, INC 3.

(18) The Association for Molecular Pathology et al. v. USPTO and Myriad Genetics, INC. Myriad USPTO. 立立. 政治大. •‧. •‧ 國. ㈻㊫學. n. er. io. sit. y. Nat al. Ch. n engchi U. 4. iv.

(19) (Deoxyribonucleic acid, DNA) DNA. DNA (Protein). DNA. (Transcription). 政治 (Ribonucleic acid, 大 RNA). 立立. 2-1 RNA. RNA. n. Ch. er. io. al. sit. y. Nat. DNA. •‧. •‧ 國. ㈻㊫學. (Translation). n engchi U. 5. iv. RNA.

(20) : thenakedscientists1. (2015/11). DNA DNA. DNA. DNA. adenine, A guanine, G. thymine, T. cytosine, C. A T 3. C. 立立. 治. G政. ㈻㊫學. •‧. DNA. al. sit. n. 4. DNA. A T. er. io. G. y. Nat. C. G. 大. •‧ 國. C. A = T. Ch. n engchi U. iv. DNA DNA. DNA. (Histone) DNA. pKa. 1. 12. 10. http://www.thenakedscientists.com/ (Last visited on 2015/12/15). 6. pH. 7.

(21) DNA. 2-2 DNA. 政治大. : biology2. ㈻㊫學. •‧ 國. 立立. (2015/11). n. sit er. io. Ch. exton(. y. ). DNA (junk DNA). al. •‧. intron(. Nat. (Intron). Histone. v ni mRNA U engchi. (exton). mRNA. DNA (Intron). 2. http://biology.gsu.edu (Last visited on 2015/12/15). 7. ).

(22) (Guidelines for Human Gene Nomenclature) DNA. DNA. DNA DNA complementary DNA. cDNA. mRNA. RNA. pre-mRNA. 立立. 政治大 mRNA. intron. •‧ 國. ㈻㊫學. DNA. intron. DNA(cDNA). n. al. introns. exons. Ch. engchi U. v ni. introns exons. er. io. sit. y. •‧. Nat. DNA(genomic DNA, gDNA) mRNA. mRNA. exons. cDNA. DNA 12. cDNA. DNA mRNA. cDNA. 3. “A gene is defined as: “a DNA segment that contributes to phenotype/function. In the absence of demonstrated function a gene may be characterized by sequence, transcription or homology.” Hester M. Wain, Elspeth A. Bruford, Ruth C. Lovering, Michael J. Lush, Mathew W. Wright, and Sue Povey, Guidelines for Human Gene Nomenclature, 79 GENOMICS. 464-70 (2002).. 8.

(23) RNA. 2-3. DNA. 立立. DNA. 政治大. •‧. •‧ 國. ㈻㊫學. n. er. io. sit. y. Nat a. l C 4 : kuleuven. hengchi Un. Myriad. v. i (2015/11) DNA. PCR. 4. http://itf.fys.kuleuven.be/~enrico/Research/cDNA.html (Last visited on 2015/12/15). 9.

(24) (In Vitro Diagnostic Devices IVD) (medical device). 政治大. 立立. •‧. •‧ 國. ㈻㊫學. /. n. al. er. io. sit. y. Nat. 1.. Ch. n engchi U. iv. 2.. 3.. /. (. ). 4.. /. 10.

(25) 70%. Abbott. Roche. Bayer. Becton Dickinson. Johnson. /. 立立. 政治大. •‧. •‧ 國. ㈻㊫學. n. er. io. sit. y. Nat al. iv. C h Manufacturing (Good U n Practice, GMP) engchi. 11. Johnson &.

(26) IVD. IVD (Sensitivity). (Specificity). (Accuracy). (Precision/Reproducibility) (Traceability). (Interference study). 政治大(Cut-off. (Stability). 立立. Value) 140. •‧ 國. ㈻㊫學. 200. •‧. 14. 14. n. al. Ch. 6. er. io. sit. y. Nat. 6. /. n engchi U. iv. 20. 2012 2012 3.0%. 3,046. 2013. 12.

(27) 65.5%. 39%. 2-1. ㈻㊫學. :. /. •‧. /. •‧ 國. 立立. 政治大. n. er. io. sit. y. Nat al. : BMI (2014/05). Ch. n engchi U. iv. (2015/11). EvaluateMedTech. EvaluateMedTech. 2020. 4,775. 13.

(28) 2014-2020. 4.1%. 2020 14.1% 2014~2020. 673. CAGR 5.1%. 2-4. : EvaluateMedTech (2015/09). (2015/10). 政治大. 立立. •‧ 國. (9.5%). •‧. (35.8%). ㈻㊫學. 85.8%. (20.5%). (11.8%). n. al. er. io. sit. y. Nat. IEK. Diagnostics 85.8% Qiagen. F&S. Abbott Diagnostics. Ch. n engchi U. i v Siemens Healthcare Roche. J&J Beckman Coulture. IVD. 47. Gen-Probe Abbott Diagnostics. Roche Diagnostics Roche. 60.8%. 15.8%. 7.8%. 4.8%. 12.5% 9.0% 5.4% 14.

(29) 5.1%. 6.1%. 2011 5.7%. 2010. 6.4%. 2017. 6.1%. 2020. 2010 2017. 4.55 7%. 44%. 立立. 政治大. ㈻㊫學. •‧. •‧ 國 io. sit. y. Nat n. al. er. 49%. (mutations). Ch. n engchi U. iv. DNA (genetic diagnostics). 15.

(30) DNA (. DNA. isolated DNA). PCR (polymerase chain reaction). PCR. 5. 1986 Real-Time PCR(RT-PCR) RT-PCR. (Human Papillomavirus, HPV ). B. (Hepatitis B virus, HBV). •‧. n. er. io. sit. y. Nat al. n DNA e n g c h i U. PCR : DNA. 5. BCC. 217 252. 2014 2015. iv. (denaturation). 2015. PCR 11.1%. Ch. 2014. 12.5%. C. ㈻㊫學. (Hepatitis C virus, HCV). •‧ 國. 立立. 政治大. 2020 101. 115. 2015-2020 452. 2015-2020. 2020. 196 (1). (3). 16. PCR (2).

(31) cDNA cDNA cDNA -. DNA. DNA. PCR DNA. DNA. DNA DNA 3'. 3'. DNA. 立立. 3'. y sit cDNAi v. n. al. er. io. DNA. 5'. •‧. •‧ 國. DNA. Nat. DNA. 大. ㈻㊫學. dNTP. 政治 DNA-DNA. DNA. Ch. n engchi U DNA. 1980. cDNA. directive on the legal protection of biotechnologicalinventions, 98/44/EC. 5. 2. Implementing Regulation to the Convention on the Grant of European Patents DNA. cDNA. R23 e. 2 Myriad. 17.

(32) 2013. DNA. cDNA. (Companion diagnostics). KRAS KRAS. BRAF. Tafinlar/Mekinist. •‧. THxIDTM BRAF kit. io. y. sit. EGFR. n. al. er. ). EGFR. Nat. (. 2-2 FDA. 6. ㈻㊫學. bioMerieux. •‧ 國. 立立. 政治KRAS 大. Ch. n engchi U. 6. FDA. 18. iv.

(33) NDA/BLA NDA 21-335. KIT D816V Mutation Detection by PCR for Gleevec Eligibility in Aggressive Systemic Mastocytosis (ASM) PDGFRB FISH for Gleevec Eligibility in Myelodysplastic Syndrome/Myeloproliferativ e Disease (MDS/MPD) cobas® EGFR Mutation Test v2. H140006. ARUP Laboratories, Inc.. imatinib mesylate. NDA 21-335. H140005. ARUP Laboratories, Inc.. Tagrisso® (osimertinib). NDA 208065. P120019S007. BLA 125514/s-5. PD-L1 IHC 22C3 pharmDx. P150013. Roche Molecular Systems, Inc. Dako, North America, Inc.. KEYTRUDA® (pembrolizumab ) Iressa (gefitinib). NDA 206995. therascreen® EGFR RGQ PCR Kit. P120022S001. Xalkori (crizotinib). NDA 202570. VENTANA ALK (D5F3) CDx Assay. P140025. Erbitux (cetuximab); Vectibix (panitumumab) Lynparza™ (olaparib). BLA 125084;BL A 125147. 立立. 政治大. •‧. BLA 125084; BLA 125147 NDA 021882. sit. y. P140020. er. al. n. BLA 125084;BL A 125147. P140023. BRACAnalysis CDx™. io. NDA 206162. The cobas® KRAS Mutation Test. Nat. Erbitux (cetuximab); Vectibix (panitumumab) Erbitux (cetuximab); Vectibix (panitumumab) Exjade (deferasirox). ㈻㊫學. •‧ 國. imatinib mesylate. PMA. ni C h KRAS RGQ therascreen engchi U PCR Kit. v. P110030 P110027. Qiagen Manchester, Ltd. Ventana Medical Systems, Inc. Roche Molecular Systems, Inc. Myriad Genetic Laboratories, Inc. Qiagen Manchester, Ltd.. DAKO EGFR PharmDx Kit. P030044S001-S00 2. Dako North America, Inc.. Ferriscan. K124065. Resonance Health Analysis. http://www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/ucm301431.ht m (Last visited on2015/12/28). 19.

(34) DAKO C-KIT PharmDx. P040011S001-S00 2. Herceptin (trastuzumab). NDA 021335; NDA 021588 BLA 103792. INFORM HER-2/NEU. P940004S001. Herceptin (trastuzumab). BLA 103792. PATHVYSION DNA Probe Kit. HER-2. P980024S001-S01 2. Herceptin (trastuzumab). BLA 103792. P990081S001-S02 8. Herceptin (trastuzumab). BLA 103792. PATHWAY ANTI-HER-2/NEU (4B5) Rabbit Monoclonal Primary Antibody INSITE HER-2/NEU KIT. Herceptin (trastuzumab). BLA 103792. SPOT-LIGHT HER2 CISH Kit. P050040S001-S00 3. Herceptin (trastuzumab) Herceptin (trastuzumab) Herceptin (trastuzumab). BLA 103792 BLA 103792 BLA 103792. Bond Oracle Her2 IHC System HER2 CISH PharmDx Kit. Herceptin (trastuzumab); Perjeta (pertuzumab); Kadcyla (ado-trastuzuma b emtansine) Herceptin (trastuzumab); Perjeta (pertuzumab); Kadcyla (ado-trastuzuma b emtansine) Mekinist (tramatenib); Tafinlar (dabrafenib) Tarceva (erlotinib). BLA 103792; BLA 125409. 立立. P040030. 政治大. P100024S001-S00 5 P100027S001-S01 7. •‧. sit. y. Nat. n. al. er. HERCEPTEST. io. P980018S001-S01 8. P090015S001. INFORM HER2 DUAL ISH DNA Probe Cocktail. Ch. n engchi U. iv. Ventana Medical Systems, Inc. Abbott Molecular Inc. Ventana Medical Systems, Inc. Biogenex Laboratories, Inc. Life Technologies , Inc. Leica Biosystems Dako Denmark A/S Ventana Medical Systems, Inc. Dako Denmark A/S. ㈻㊫學. •‧ 國. Gleevec/Glivec (imatinib mesylate). Services Pty Ltd Dako North America, Inc.. BLA 103792; BLA 125409. HER2 FISH PharmDx Kit. P040005S001-S01 0. Dako Denmark A/S. NDA 204114;. THxID™ BRAF Kit. P120014. bioMérieux Inc.. NDA 021743. cobas EGFR Mutation Test. P120019S001-S00 4. Roche Molecular Systems, Inc.. 20.

(35) Xalkori (crizotinib). NDA 202570. VYSIS ALK Break Apart FISH Probe Kit. P110012S001-S00 3. Zelboraf (vemurafenib). NDA 202429. COBAS 4800 BRAF V600 Mutation Test. P110020S001-S01 0. : FDA. Abbott Molecular Inc. Roche Molecular Systems, Inc.. (2016/01). (Deoxyribonucleic acid, DNA) DNA. DNA. •‧ 國. •‧ y sit. n. al. er. 7. io. pH. DNA DNA. Nat. 10. DNA. ㈻㊫學. (Histone). 12. 立立. 政治大. Ch. n engchi U. pKa DNA. iv. DNA. cDNA DNA. DNA. 21. 1980 cDNA.

(36) directive on the legal protection of biotechnologicalinventions, 98/44/EC. 5. 2. Implementing Regulation to the Convention on the Grant of European Patents DNA. R23 e. cDNA. 2 Myriad. 2013. DNA. cDNA. (mutations). 立立. 政治大. DNA. •‧. •‧ 國. ㈻㊫學 er. io. sit. y. Nat n. v PCR (polymerase chain reaction)a l ni Ch U engchi cDNA cDNA. 22. (genetic diagnostics).

(37) 7. 1790. 25. 立立. 政治大. •‧. •‧ 國. ㈻㊫學 y. Nat n. al. er. io. sit. :. 7. Ch. n engchi U. 35 U.S.C. § 101 (2013). 8. 49. 23. iv. 8. (Policy).

(38) 9. :. 1.. 2.. 10. 立立. 政治大. •‧. •‧ 國. ㈻㊫學. n. er. io. sit. y. Nat al. 11. Ch. n engchi U. iv. 9. 224. 10. 23. 45-47. 11. 39. 1. 2010. 3. 24. 1998. 2014. 1.

(39) 12 13. BRCA1/2 Myriad BRCA1/2. (invalid). DNA(isolated DNA) (products of nature) DNA DNA(isolated DNA). 政治大. (Patent and Trademark Office, 立立 PTO). (altered by man. •‧. •‧ 國. ㈻㊫學. color). (a horse of a different. into a form that does not exist in nature)14. n. er. io. sit. y. Nat al. Ch. engchi U. v ni. Myriad. 15. 12. Ass'n for Molecular Pathology, 702 F. Supp. 2d at 210-11.. 13. See id. at 206-10.. 14. See id. at 185.. 15. See id. at 220-21 (citing J.E.M. Ag Supply, Inc. v. Pioneer Hi-Bred Int'l, Inc., 534 U.S. 124 (2001). 25.

(40) 16. 17. 103. 101 立立. •‧. •‧ 國. ㈻㊫學. n. al. 20. 18. er. io. sit. y. Nat. 101. 102. 政治大. Ch. n engchi U. iv. 19. 16. See id. at 224-27 (citing Merck & Co. v. Olin Mathieson Chem. Corp., 253 F.2d 156 (4th Cir. 1958); In re Bergstrom, 427 F.2d 1394 (C.C.P.A. 1970); Parke-Davis & Co. v. H.K. Mulford Co., 189 F. 95 (S.D.N.Y. 1911) aff'd in part, rev'd in part, 196 F. 496 (2nd Cir. 1912)).. 17. Id. at 220 (citing Utility Examination Guidelines, 66 Fed. Reg. 1092, 1092-99 (Jan. 5, 2001)).. 18 Id. § 154(a)(2). 19 Id. § 101. “any new and useful process, machine, manufacture, or composition of matter, or any new and useful improvement thereof.” 26.

(41) (Process). 100. (b) 20. (machine-or-transformation test). (1). (it is tied to. 政治大 (2). a particular machine or apparatus). 立立. (it. •‧ 國. ㈻㊫學. transforms a particular article into a different state or thing)21. •‧. Bilski v. Kappos. n. er. io. sit. y. Nat al. iv n CMayo (Mayo Collaborative Services v. U hengchi. Prometheus, Inc.)22. 20. 2010. Prometheus Laboratories. 35 U.S.C. 100(b) The term “process” means process, art or method, and includes a new use of a. known process, machine, manufacture, composition of matter, or material. 21. Bilski v. Kappos, 561 U.S. 593 (2010). 22. Mayo v. Prometheus, 566 U.S. 10-1150 (2012). 27.

(42) (thiopurine). Mayo Mayo. Laboratories. Prometheus. /. : (1). (2) (3). 立立. •‧. •‧ 國. ㈻㊫學. Mayo. 政治大. n. al. er. io. sit. y. Nat. Prometheus Laboratories, Inc. 2010. Ch. n engchi U. iv. Bilski 101. 2012. Prometheus Laboratories. Prometheus Laboratories. 28.

(43) 23. Mayo. 24. Prometheus Laboratories. (Machine). 立立. n. al. er. io. sit. y. Nat. (Manufacture). •‧. •‧ 國. ㈻㊫學. 25. 政治大. Ch. n engchi U. iv. 26. 23. Id. at 1291. 24. Id. at 1293, 1302.. 25. Corning v. Burden, 68 U.S. 267 (1853). 26. Myriad. 29.

(44) (Composition of matter). 27. 101. 立立. •‧ 國. •‧. (mental process). (abstract ideas). y. sit. n. er. io. al. Ch. n engchi U. Funk Brothers Seed Co. v. Kalo Inoculant Co.. 39. 27. (laws of nature). (phenomena of nature). Nat. phenomena). ㈻㊫學. (products of nature). 政治大. 2013. 40. 30. iv. (physical.

(45) Kalo Inoculant Co. Varley ShermanBond. Bond 28. Kalo (manifestations of lawsof nature). 立立. 政治大. Kalo. •‧. •‧ 國. ㈻㊫學. (new). (useful). n. er. io. sit. y. Nat al. Funk Brothers. Ch. n engchi U. iv. Funk Brothers. Parker v. Flook. 28. Funk Bros. Seed Co. v. Kalo Inoculant Co., 333 U.S. 127, 130 (1948). 31.

(46) 29. (. ). (. 立立. ). 政治大. •‧ 國. •‧. 30. ㈻㊫學. Benson. n. er. io. sit. y. Nat al. Ch. n engchi U. iv. (the only component found novel) 101. 31. 29. Parker v. Flook, 437 U.S. 584, 586-87 (1978).. 30. Id. at 594.. 31. Id. at 585-594.. 32.

(47) point of novelty 32. Diamond v. Diehr. (1) (2) (3). 立立. •‧. •‧ 國. ㈻㊫學. Parkerv. Flook. 政治大. n. er. io. sit. y. Nat al. Ch. n engchi U. iv. 33. 32. 17-18. 33. 2010. Diamond v. Diehr, 450 U.S. 175, 177-79 (1981).. 33. Bilski.

(48) Diehr. Flook. point of novelty. (as a whole). Bilski v. Kappos. : (1). 政治大 (2). 立立. •‧. •‧ 國. ㈻㊫學. (3). n. er. io. sit. y. Nat al. Ch. n engchi U. iv. 34 35. 34. In re Bilski, 545 F. 3d,949. (Fed. Cir. 2008). 35. Bilski v. Kappos, 130 S. Ct. 3218 (2010). 34.

(49) (machine-or-transformation test). 36. Myriad. 政治大. 立立. •‧. •‧ 國. ㈻㊫學. io. y 38. er. (powers of nature). al. 37. sit. Le Roy v. Tatham. Nat. 1852. n. v ni U (no one can claim in either of themean exclusive ng c h i right) Ch. 36. Id. at 3227.. 37. Le Roy v. Tatham, 55 U.S. (14 How.) 156, 175 (1852).. 38. Id. The Court used two examples to illustrate its position on powers of nature, stating:. Nor can an exclusive right exist to a new power, should one be discovered in addition to those already known. Through the agency of machinery a new steam power may be said to have been generated. But no one can appropriate this power exclusively to himself, under the patent laws. The same may be said of electricity, and of any other power in nature, which is alike open to all, and may be applied to useful purposes by the use of machinery. 35.

(50) 39. (abstract ideas) nature). (products of. (apply) 40. O'Reilly v. Morse. 41. 42. (Product of nature). 立立. 政治大. sit al. er. Id. at 175-76. The Court stated:. y. Le Roy, 55 U.S. (14 How.) at 175. io. 40. Nat. 39. (phenomena). •‧. •‧ 國. ㈻㊫學. (substances). n. v ni U engchi In all such cases, the processes used to extract, modify, and concentrate natural agencies, constitute the Ch. invention. The elements of the power exist; the invention is not in discovering them, but in applying them to useful objects. Whether the machinery used be novel, or consist of a new combination of parts known, the right of the inventor is secured against all who use the same mechanical power, or one that shall be substantially the same. A patent is not good for an effect, or the result of a certain process, as that would prohibit all other persons from making the same thing by any means whatsoever. This, by creating monopolies, would discourage arts and manufactures, against the avowed policy of the patent laws. 41. O'Reilly v. Morse, 56 U.S. 62 (1853). 42. Id. at 130. "surely [courts] have no right, even if [they] had the disposition, to curtail or narrow its liberal policy by astute or fanciful construction.". 36.

(51) (processes). ? Diamond v. Chakrabarty43. 政治大. Chakrabarty. y sit er. io. 1972. Nat. Diamond v. Chakrabarty. •‧. •‧ 國. ㈻㊫學. 立立 Diamond v. Chakrabarty. al. n. Chakrabarty. : Diamond v.. n Ch Pseudomonas engchi U. iv. DNA plasmid. 43. Diamond v. Chakrabarty, 447 U.S. 303 (1980). 37. DNA. Ananda M..

(52) Chakrabarty 1972. 6. 7. PTO. PTO. Diamond v. Chakrabarty Diamond v. Chakrabarty. (living things). 44. Inoculant Co.. 45. 立立. Funk Bros. Seed Co. v. Kalo. 政治大 46. •‧. •‧ 國. ㈻㊫學. n. 44. sit er. io. al. y. :. Nat. Kewanee Oil Co. v. Bicron Corp.. Ch. n engchi U. iv. Diamond v. Chakrabarty, 447 U.S. 303, 306-09 (1980) (the Supreme Court "granted certiorari to determine whether a live, human-made" bacterium constituted patentable subject matter after the PTO commissioner appealed the Court of Customs and Patent Appeals' decision to allow the issue of a patent on a living thing).. 45. Funk Bros. Seed Co. v. Kalo Inoculant Co. 333 U.S. 127, 130 (1948). 46. discoveries that are "manifestations of laws of nature, free to all men, reserved exclusively to none" are patent ineligible. As the Court later stated in Diamond v. Chakrabarty, this non-patentable matter includes "a new mineral discovered in the earth or a new plant found in the wild . . . . Likewise, Einstein could not patent his celebrated law that E=mc2; nor could Newton have patented the law of gravity." Chakrabarty, 447 U.S. at 309.. 38.

(53) ([t]he authority of Congress is exercised in the hope that [t]he productive effort thereby fostered will have a positive effect on society through the introduction of new products and processes of manufacture into the economy, and the emanations by way of increased employment and better lives. )47. 101 (microorganism). 48. (composition of matter). (manufacture). (manufacture). (forms) 50. y. Shell Development Co. v.. sit. io. al. iv n C U 77 U.S. 303 (1980) at 307 (quoting KewaneehOil Corp., 416 U.S. 470, 480 (1974)). It is i e nCo. g cv.hBicron. n. 47. (properties). er. Nat. (combinations). (qualities). •‧. •‧ 國. :. American Fruit Growers, Inc.. ㈻㊫學. v. Brogdex Co49. 立立. 政治大. relevant to note that the Court began its analysis by articulating the purpose of patents--providing incentives for innovation. Rather than beginning the discussion with an interpretation of the statute, the Court chose to highlight the legislative intent of patents. 48. 35 U.S.C. 101 Inventions patentable. Whoever invents or discovers any new and useful process, machine, manufacture, or composition of matter, or any new and useful improvement thereof, may obtain a patent therefor, subject to the conditions and requirements of this title.. 49. American Fruit Growers, inc. V. Brogdex Co., 283 U.S. at 11, 51 S.Ct. 328.. 50. Chakrabarty, 447 U.S. at 308 (quoting American Fruit Growers, 238 U.S. at 11). The Court applied the dictionary definition to the term "manufacture." Define "manufacture" as "the production of articles for use . . . by giving to these materials new forms, qualities, properties, or combinations, whether by handlabor or by machinery.". 39.

(54) Watson51. 52. 53. (forms). (qualities). (properties). (combinations)?. Dr. Chakrabarty Funk Bros.. 立立. 政治大. •‧. •‧ 國. ㈻㊫學 sit. y. Nat. Chakrabarty manufacture. n. al. er. io. 101. composition of matter. 51. Dr. Chakrabarty. Ch. n engchi U. iv. Shell Development Co. v. Watson, 149 F. Supp. 279, 280 (D.D.C. 1957).. 52. Chakrabarty, 447 U.S. at 308 (quoting Shell Development Co., 149 F. Supp. at 280 (citing 1 ANTHONY DELLER, WALKER ONPATENTS § 14, at 55 (1st ed. 1937))). (“all compositions of two or more substances and . . . all composite articles,whether they be the results of chemical union, or of mechanical mixture, or whether they be gases, fluids, powders or solids. It is important to note that the Court applied the broad definition used by the United States District Court for the District of Columbia rather than forming its own definition. The Court could have looked to other common uses that were less expansive instead of choosing to incorporate such a sweeping definition. This indicates the Court's willingness to broaden the scope of patentable subject matter. See id.. 53. Schering Corporation v. Gilbert, 153 F.2d 428 (2d Cir. 1946).. 40.

(55) 101 manufacture. composition of matter law of. nature. physical phenomenon. abstract idea. Chakrabarty. 1930. 1970. 101. 政治大. 立立. •‧ 國. ㈻㊫學. •‧. 101. n. al. er. io. sit. y. Nat. 101. Ch. n engchi U. iv. 5:4 101. Chakrabarty. 2010. Bilski. 2013. Myriad. 101. 41.

(56) Chakrabarty. 立立. •‧. •‧ 國. ㈻㊫學. Chakrabarty. 政治大. Chakrabarty. n. al. er. io. sit. y. Nat. Chakrabarty 2010. Ch. Bilski. n engchi U 2013. 101. 42. iv. Myriad. Dr..

(57) 立立. 政治大. •‧. •‧ 國. ㈻㊫學. n. er. io. sit. y. Nat al. Ch. n engchi U. iv. : Myriad. BRCA1 BRCA2 DNA BRCA BRCA1. BRCA. BRCA2 BRCA1 43.

(58) BRCA2. 13 BRCA1. BRCA2. 1980. 1991. (United States Department of Defense) 1990. Mary-Claire King. •‧. 17. 1990. ㈻㊫學. •‧ 國. 立立. 治政 2008 大. OncorMed. 55. n. er. io. sit. y. Nat al. 54. Ch. n engchi U. iv. (University of Utah's Centre for Genetic Epidemiology) Marc Skolnick 56. 54. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990 Dec 21;250(4988):1684-9.. 55. Marshall E. The battle over BRCA1 goes to court; BRCA2 may be next. Science. 1997 Dec 12;278(5345):1874.. 56. 1847 44.

(59) 57. 1970. Skolnick. (Mormon families) Skolnick. 58. 1991. Myriad. (Eli Lilly and Co.). (NIH). 1993. Myriad. 立立. BRCA. •‧ 國. y sit. n. al. er. io. Myriad. Myriad. •‧. Nat. 59. Myriad. ㈻㊫學. Skolnick. 政治大. Ch. n engchi U. iv. 1994. 10. 7. 57. 58. Williams-Jones B. History of a gene patent: tracing the development and application of commercial BRCA testing. Health Law J 2002;10:123–146.. 59. Gold ER and Carbone J. Myriad Genetics: In the eye of the policy storm. Genet Med. 2010 Apr;12(4 Suppl):S39-70.. 45.

(60) 60. BRCA1. Myriad. 8. 12. Myriad Myriad (United States Department of Human Health and Services) Myriad US 5,693,47323 BRCA1. Myriad. BRCA1 1998 Myriad. 立立. OncorMed. Myriad. 5. 62. 63. io. er. BRCA2. al. 5. BRCA2. Nat. Stratton. 21. 1998. 治政BRCA1 大. Dr. King. •‧ 國. 12. 20. •‧. 1995. 1. BRCA1. ㈻㊫學. Myriad. v ni U engchi Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C,. n. 60. 1995. y. 7. 47. sit. 6. BRCA1. 61. Myriad. Myriad. Ch. Bennett LM, Ding W, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994 Oct 7;266(5182):66-71. 61. US 5,709,999; US 5,747,282; US 5,710,001; US 5,753,441; and US 6,162,89723. 62. 3 Myriad filed suit against Oncormed Inc. in 1997 and again in 1998, Myriad Genetics v. Oncormed, Nos. 2:97-cv-922, 2:98-cv-35 (D. Utah), and the University of Pennsylvania in 1998, Myriad Genetics v. Univ. of Pa., No. 2:98-cv-829 (D. Utah). Both lawsuits were later dismissed without prejudice after each defendant agreed to discontinue all allegedly infringing activity.. 63. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995 Dec 21-28;378(6559):789-92.. 46.

(61) BRCA2 Stratton. Myriad. Myriad. BRCA1/2 DNA. (isolated. DNA) Myriad. BRCA1. Myriad. BRCA2. p16. PTEN TMPRSS2. BRCA1. 64. •‧. 65. Myriad. BRCA1. Ch. n engchi U. iv. (European Patent Office, EPO). (method). 64. al. n. Myriad. 1997. er. io. BRCA2. y. Myriad. Nat. BRCA1 and/or BRCA2. sit. BRACAnalysis®. BRCA2. ㈻㊫學. •‧ 國. 立立. 政治大. 699,754. (method for diagnosing a predispodition for. Myriad website: http://www.Myriad.com (Last visited on 2016/01/15). 65. BRCA BRCA1. BRCA2. 3241736 BRCA1. 47. 3455228. 3399539.

(62) breast and ovarian cancer). (gene). 705,902. breast and ovarian cancer susceptibility gene). 705,903. (17q-linked. (in vivo mutation and. polymorphism in the 17q-linked breast and ovarian cancer susceptibility gene) Myriad. EPC. 53. EPO. c. 699,754 EPO Myriad. 7. 2008. 11. 17. EPO. 66. 立立. 25. 政治大. •‧. •‧ 國. ㈻㊫學. 67. Ch. )e n g c h i U. 67. 68. 93,600. v ni. 1,500 47. BRCA1. (. 460. BRAC1/2 Myriad. 66. sit. 3,120. n. al. er. io. 13,800. y. Nat BRAC1/2. 7. 68. 326.5. 115. 2009. 2. BRCA1 173-74 (2010) http://www.nature.com/news/2008/081202/full/456556a.html (Last visited on 2013/10/9). 48. 20.

(63) BRACAnalysis 2009. BRAC1/2 69. Myriad. BRCA. Myriad 4.5. 830. 2012. 1200. 4.96. 4-1 Myriad. 1980 1991. -. 政治大. Myriad BRCA Myriad BRACAnalysis BRCA Myriad (2016/01). y. Nat. BRCA. 5. er. io. BRAC1 iv. n. 87%. 2013. sit. (ANGELINA JOLIE). al. 20. •‧. •‧ 國. 立立. ㈻㊫學. 1994-1995 1996 1997-1998 1998-1999 : Myriad. BRCA1. Ch. n engchi U. 5%. 56. 2013. Myriad Myriad 69. http://www.google.com/finance?q=NASDAQ%3AMYGN (Last visited on 2011/11/24). 49.

(64) 2010. 3. 29. Robert W. Sweet Myriad (Myriad Genetics & Laboratories Inc.). BRCA1/2. 101. eligibility 30 market). Myriad. 22.6. (MYGN). (NASDAQ stock. 9.2%. 24.9. Myriad. BRCA1/2 2008. Myriad. BRCA 70. Myriad. (ACLU). Myriad. BRCA1. •‧. 7. 立立. 12. ㈻㊫學. BRCA2. 5. •‧ 國. 2009. 政治大. n. er. io. sit. y. Nat al. Ch. n engchi U. 70. iv. Myriad (European Patent Office, EPO) (method) 699,754 (method for diagnosing a predispodition for breast and ovarian cancer) (gene) 705,902 (17q-linked breast and ovarian cancer susceptibility gene) 705,903 (in vivo mutation and polymorphism in the 17q-linked breast and ovarian cancer susceptibility gene) Myriad EPC 53 c EPO 699,754 EPO 7 Myriad 2008 11 17 EPO 25 7. 50.

(65) 2009. 5. 12. American Civil Liberties Union, ACLU. (Public Patent Foundation) BRCA2. BRCA1. Myriad Genetic. (University of. Utah Research Foundation) (First Amendment) (products of nature) 71. (Co-plaintiffs). 立立. 政治大. •‧. •‧ 國. ㈻㊫學. 15,000. y. Nat. er. io. sit. 2010. n. a l BRCA1 BRCA i v n Ch engchi U. 7. 15. Myriad. 2011 2011 DNA. 71. 4 7. Myriad. 3. 29. (Invalid). Myriad 29. BRCA. DNA. Association for Molecular Pathology, et al. v. USPTO, et al., 702 F. Supp. 2d 181 (S.D.N.Y. 2010). 51.

(66) 5. 2012. 3. Myriad. 26 2012. 8. 8. 16. 3. DNA. Myriad 72. Myriad. 立立. •‧ 國. •‧. DNA. y sit. n. al. er. 13. io. Myriad. 6. 73. Nat. 2013. 11. 72. ㈻㊫學. 2012. 政治大. Ch. n engchi U. iv. DNA. Association for Molecular Pathology v. U.S. Patent and Trademark Office, 653 F.3d 1329 (Fed. Cir.. 2011). 73. Association for Molecular Pathology, et al., v. Myriad Genetics, Inc., et al., 132 S. Ct. 1794(2012).. 52.

(67) 2009. 5. 12. American Civil Liberties Union, ACLU. (Public Patent Foundation) BRCA2. BRCA1. Myriad Genetic. (University of. Utah Research Foundation) 74. 75. (products of nature). 101. 4-2 Myriad Case Claims-in-suit. 政治大 Claims-in-suit Contents. •‧. 74. Claims. 77. ㈻㊫學. Patent. •‧ 國. 立立. 76. n. al. er. io. sit. y. Nat. Congress shall make no law respecting an establishment of religion, or prohibiting the free exercise thereof; or abridging the freedom of speech, or of the press; or the right of the people peaceably to assemble, and to petition the Government for a redress of grievances. :. ni. Ch. v. engchi:U http://www.ait.org.tw/zh/the-bill-of-rights.html : 2013/9/30 75. The Fourteenth Amendment (Amendment XIV) to the United States Constitution was adopted on July 9, 1868, as one of the Reconstruction Amendments. The amendment addresses citizenship rights and equal protection of the laws, and was proposed in response to issues related to former slaves following the American Civil War.. 76. 35 USC § 101 - Inventions patentable. Whoever invents or discovers any new and useful process, machine, manufacture, or composition of matter, or any new and useful improvement thereof, may obtain a patent therefor, subject to the conditions and requirements of this title.. 77. Article I, Section 8, Clause 8 of the United States Constitution. To promote the Progress of Science and useful Arts, by securing for limited Times to Authors and Inventors the exclusive Right to their respective Writings and Discoveries.. 53.

(68) 6, 7, and 20. Claims 1, 6, and 7 Chromosome susceptibility gene ) 08/639,501 3. U. S. Patent 5,693,473. Claim 1. U. S. Patent 5,709,999. Claim 1. U. S. Patent 5,710,001. Claim 1. U. S. Patent 5,753,441. Claim 1. U. S. Patent 6,033,857. Claims 1 and 2. 立立. DNA 13-linked breast (13 Tavtigian 1998 11 17. cancer. 20. cancer. 政治大. •‧ 國. •‧. io. y. n. al. 30. DNA Linked breast and ovarian cancer susceptibility gene 1 DNA BRCA1 DNA78 BRCA1 DNA Linked breast and ovarian cancer susceptibility gene ( ) Shattuck-Eidens 08/483,553 1998 1 20 35 1 BRCA1 DNA 17q-linked breast and ovarian cancer susceptibility gene mRNA v ni C h cDNA UBRCA1 engchi 170-linked breast and ovarian cancer susceptibility gene BRCA2 Chromosome 13-linked breast cancer susceptibility gene (13 ) Tavtigian 09/044,946 2000 3 7 8 4. ㈻㊫學. Nat. :. DNA 17Q-linked breast and ovarian susceptibility gene (17Q ) Skolnick 08/483,554 1998 5 5 6 20. sit. U. S. Patent 5,837,492. Claims 1, 2, 5,. er. Nunber U. S. Patent 5,767,282. (2014). 78. . An isolated DNA comprising an altered BRCA1 DNA having at least one of the alterations set forth in Tables 12A, 14, 18 or 19 with the proviso that the alteration is not a deletion of four nucleotides corresponding to base numbers 4184-4187 in SEQ. ID. NO:1.. 54.

(69) (Co-plaintiffs). /. yriad Genetics. Myriad. 立立. 政治大 (isolated). n. al. er. io. sit. y. Nat :. (purify). •‧. •‧ 國. ㈻㊫學. Myriad. Ch. n engchi U. iv. (1). (2). (composition claims). (method, or process claims). 9 5. 6 (comparing and analyzing). 55. 6 1. 15.

(70) (screening) (Machine-or-Transformation Test) 9. DNA. ?. DNA. DNA. (patentable subject matter must be “markedly different” from a product of nature). 1931. 立立. American治 Fruit Growers, inc. v. Brogdex Co.. 政. 大. •‧. •‧ 國. ㈻㊫學 y. Nat. sit. (process a new or distinctive form,. n. al. er. io. quality or property). 79. Ch. n engchi U. iv. Myriad. DNA. Parke-Davis 80. Myriad Genetics. BRCA1 DNA. 79. American Fruit Growers, inc. V. Brogdex Co., 283 U.S. at 11, 51 S.Ct. 328.. 80. Parke Davis & Co. v. H.K. Mulford Co., 189 F. 95 (S.D.N.Y.1911).. 56.

(71) DNA. DNA. DNA. 15. DNA. 9. DNA. DNA. (markedly different. characteristics). DNA. characteristics). (physical治 embodiment of information). 立立. DNA. 9. (directed to unpatentable products of nature). •‧. 101. 大. ㈻㊫學. DNA. 政. •‧ 國. DNA. machine ot transformation test. n. al. er. io. sit. y. Nat. 6. (unique. Ch. v ni U e5 n g c h i DNA. BRCA. (directed only to...abstract mental processes). 101 Myriad (seeks to patent a basic scientific principle). 101. 2010. 57. 3. 29.

(72) BRCA1. BRCA2. (Invalid). 81. 2011. 4. Myriad. (CAFC). 2011. 7. 29. 2012. 3. 26 Mayo. Collaborative Services v. Prometheus, Inc.82. 8. 立立. 16. 5. ㈻㊫學. •‧ 國. 2012. 政治大. DNA. •‧ sit. n. al. er. io. ). y. Nat ’282. Ch. engchi. i Un. v. (’282. 20. DNA Myriad. BRCA. 81. The District Court, Sweet, J., held that:(1) patents for isolated DNA containing breast cancer susceptibility genes were invalid, and(2) patents for methods of analyzing gene sequences were invalid. Ordered accordingly. 5,693,473, 5,709,999, 5,710,001, 5,747,282, 5,753,441, 5,837,492, 6,033,857. Invalid.. 82. Mayo Collaborative Services v. Prometheus, Inc., 566 U.S. ___, 132 S. Ct. 1289 (2012).. 58.

(73) Lourie. Moore. DNA. Bryson Myriad 83. DNA. 101 Myriad. DNA. DNA. DNA. •‧ 國. 立立. ㈻㊫學. Myriad. 政治大 Myriad. DNA. •‧. n. al. er. io. sit. y. Nat. Myriad. 101. Ch. n engchi U. iv. DNA. DNA. DNA. Myriad. 83. Ass’n for Molecular Pathology v. United States Patent & Trademark Office, 653 F.3d 1329, 1334 (Fed. Cir. 2011).. 59.

(74) DNA 101. DNA. (preempt). 立立. DNA. •‧ 國. DNA. •‧. DNA. Lourie. io. sit. y. Nat. (characteristics). 政治大. ㈻㊫學. Lourie. BRCA. n. al. er. DNA. DNA. Ch. engchi U. Lourie. v ni. DNA. 101. DNA. 60.

(75) Myriad. DNA DNA. DNA. DNA. DNA. 46. DNA DNA. DNA. DNA. BRCA1. 17. 立立. 13. •‧ 國. sit er. io. al. n. BRCA1. y. Nat DNA. BRCA2. •‧. BRCA1. BRCA2. BRCA1. DNA. 政治大. ㈻㊫學. BRCA2. DNA. C BRCA h e n g c h i U. v ni. 282. 5. 6. BRCA2 DNA. DNA. DNA. DNA. DNA. DNA. DNA. 61.

(76) DNA DNA DNA DNA. DNA. DNA. DNA DNA. DNA. DNA. 立立. DNA. •‧. •‧ 國. ㈻㊫學 DNA. sit. n. al. er. io. DNA. y. Nat. DNA. DNA. 政治大. Ch. n engchi U. iv. Myriad 2012 3. 62. 8 DNA.

(77) Myriad. Lourie. DNA DNA. DNA. (characteristics). Lourie DNA. (molecules). DNA DNA. DNA. (markedly. different ... from molecules thate exist in nature) DNA. 立立. DNA. •‧ 國. DNA. y. Nat. DNA. io. n. al. sit. 40000. 2645. •‧. 29. DNA. Ch. n engchi U. 84. 84. Myriad. 2005 20%. 2001. iv. DNA. Moore. (DNA. ㈻㊫學. Lourie. bonded) 治政 (covalently 大. er. molecules). DNA. Lourie. DNA. (2013). 63. 101.

(78) 85. DNA. DNA. ’282. 7. cDNA. 2. 7. ’492. cDNA. (laws-of-nature). cDNA. (cDNA sequences do not exist in nature). Myriad. DNA DNA(isolated DNA) (settled expectations of the biotechnology industry) DNA 86. 政治大. ㈻㊫學. Bryson. •‧ 國. 立立. 101. 87. •‧ y. Nat. er. io. sit. (the same, structurally and functionally,. n. al in both the native gene and the isolated . . . gene) Ch. n engchi U. iv. (broad claims to genetic material. present a significant obstacle to the next generation of innovation in genetic. 85. Moore, J., concurring in part and concurring in the judgment. 86. PATENT LAW — PATENTABLE SUBJECT MATTER — FEDERAL CIRCUIT INVALIDATES DIAGNOSTIC METHOD CLAIMS AS DRAWN TO “ABSTRACT MENTAL PROCESSES.” — Association for Molecular Pathology v. U.S. Patent & Trademark Office, 653 F.3d 1329 (Fed. Cir. 2011). HARVARD LAW REVIEW. Vol. 125:658. 87. Bryson, J., concurring in part and dissenting in part. 64.

(79) medicine — multiplex tests and whole-genome sequencing). (the PTO lacks substantive rulemaking authority as to issues such as patentability) Myriad. 2013. 6. 88. 13. 政治大. 立立. •‧ 國. y. sit. n. er. io. cDNA. al. BRCA1 BRCA2. 88. DNA(cDNA) (. Myriad Genetics. Nat. DNA). •‧. (un-patentable Subject Matter). BRCA. DNA. ㈻㊫學. 101. Ch. n engchi U. iv. Association for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. __, 133 S. Ct. 2107, 106. USPQ2d 1972 (2013). 65.

(80) Myriad. BRCA1. BRCA2. DNA Myriad BRCA1. BRCA2. Myriad. Myriad. Myriad. BRCA. 政治大. 立立. •‧. •‧ 國. ㈻㊫學. n 2013. 6. sit er. io. al. y. Myriad. Nat. Myriad. DNA (cDNA). Ch. n engchi U. iv. 13 Myriad. DNA. 66.

(81) 89. Myriad 90. BRCA. 2015. 25. 20%. 立立. 政治大. •‧. •‧ 國. ㈻㊫學 er. n. al. 89. sit. io. (the laws of nature). y. :. Nat. 1948. Ch. n engchi U. iv. (Broad Institute). 90. 67. (the work of nature).

(82) USPTO. 87. (. ). 59. Myriad. •‧ 國. ). WTO/TRIPs. 2. 1. 31 BRCA. •‧. 59. y. Nat. 91. sit. BRCA 1/2. n. al. er. io. 91. (. ㈻㊫學. 1/2. 2. 政治大. 立立 87. 1. Ch. n engchi U. Myriad. iv. 13. 68. 2013. 4. 1. 2.

(83) Myriad. Myriad 101 DNA (intron). cDNA. •‧ 國. y sit. n. al. er. io. DNA. •‧. DNA. Nat. (sets of primers) and instructions). ㈻㊫學. Myriad. 立立. mRNA. 政治大. Ch. n engchi U. 2013. 92. 7. (single primers). (kits that include primers cDNA. iv. Myriad (Utah District. 92. 2014 3 USPTO (Laws of Nature) (Nature Phenomena) (Product of Nature) (Guidance For Determining Subject Matter Eligibility Of Claims Reciting Or Involving Laws of Nature, Natural Phenomena, & Natural Products) Myriad Mayo Collaborative Services v. Prometheus Laboratories, Inc., 566 U.S. __, 132 S. Ct. 1289, 101 USPQ2d 1961 (2012) Diamond v. Chakrabarty, 447 U.S. 303 (1980) Funk Brothers Seed Co. v. Kalo Inoculant Co., 333 U.S. 127, 131 (1948). 69.

(84) Court). 8. Gene By Gene Ltd.. Myriad Genetics. Dnatraits. 995. BRCA1. BRCA1. BRCA2 93. BRCA2. Ambry Genetics94 Counsyl95 GeneDx Invitae LabCorp Pathway Genomics Quest Laboratories. 立立. 政治大. y. Nat. n. 94. Ch. n engchi U. iv. Myriad Genetics 2013. ). er. io. al. sit. Trustees of the University of Pennsylvania(. 93. ). •‧. •‧ 國. ㈻㊫學. University of Utah Research Foundation(. Gene By Gene. 7. University of Utah Research Foundation, et al., v. Ambry Genetics Corporation, United States. District for the District of Utah, Case No. 2:13-cv-00640-RJS. 95. Counsyl Inc. v. The University of Utah Research Foundation, et al., case number 2:14-cv-00150. 70.

(85) HSC Research and Development Limited Partnership (HSC ). (limited partnership). Endorecherche Inc.. Myriad Genetics &. LaboratoriesInc. (Myriad). 5,654,155 gene. Consensus sequence of the human BRCA1. (. BRCA1. 08/598,591. 1997. 8. ). 5. 立立. Murphy. 政治 4 大. •‧ 國. Chromosome 13-linked breast cancer. n. al. 2000. Ch. 3. 7. n engchi U. iv. 8. 4. Myriad Genetics. 5,753,441. 170-linked breast and ovarian cancer. susceptibility gene (170 08/488,011. Tavtigian. sit. ). er. io 09/044,946. y. Nat. susceptibility gene (13. •‧. 6,033,857. Myriad Genetics. ㈻㊫學. ONCORMED, INC.. 3. ) 1998. 5. 71. 19. Skolnick 37. 4.

(86) 5,709,999. Linked breast and ovarian cancer. susceptibility gene (. ). 08/483,553. 1998. 1. 1. Shattuck-Eidens. 20. 35. SHATTUCK-EIDENS, DONNA M.. 6,951,721 human BRCA1 gene Murphy. Method for determining the haplotype of a (. BRCA1. 09/923,327. 2005. 4. 10. ). 4. 政治大GENE. 19 LOGIC ACQUISITION. 立立 Myriad Genetics. io. 2007 20 1 a 31 v i l C n h eTHOMAS SCHOLL, n g c h i U HENDRICKSON, BRANT C.. WARD, BENJAMINPRUSS, DMITRY. 5,750,400 (. 5. Myriad Genetics. Coding sequences of the human BRCA1 gene. BRCA1 1998. Scholl. er. 7. n. 10/457,839. sit. ). y. •‧. BRCA1. Large deletions in human BRCA1 gene and. Nat. use thereof (. ㈻㊫學. 7,250,497. •‧ 國. CORP.. ). 12. Murphy 8. 08/798,691. 5. ONCORMED, INC.. Myriad Genetics. 5,837,492. Chromosome 13-linked breast cancer 72.

(87) susceptibility gene (13. ). 08/639,501. 1998. 11. Tavtigian. 17. 30. 3. Myriad Genetics. 5,747,282. 17Q-linked breast and ovarian cancer. susceptibility gene (17Q. ). 08/483,554. 2013. 7. 5. 20. 政治大. Ambry Ambry. •‧. io. sit. y. Nat al. er. BRCA1/2. n. Myriad. 6. ㈻㊫學. Myriad. 立立. 5. •‧ 國. Myriad. 1998. Skolnick. Ch. n engchi U. Myriad. BRCA1. iv. BRCA2. BRCA1 BRCA2. 2014. 3. 10. Myriad. Myriad Myriad. 2014 5,753, 441 5,747,282. 5,837,492. 73. 12. 17.

(88) Myriad Myriad. Ambry. 2015. Myriad. 2 96. 2015 Myriad. 2014. Intron. 立立. 政治大. Intron. n. al. er. io. sit. y. Nat. Intron. Ch. 2015. 2. Ambry Genetics. iv. (Thrombomodulin) Un. engchi. TM. 96. •‧. •‧ 國. DNA. Intron. ㈻㊫學. Intron. 8. Myriad. 74. Intron.

(89) 97. Intron 1987. (Proceedings of the National. Academy of Sciences of the United States of America, PNAS). Human. thrombomodulin gene is intron depleted: nucleic acid sequences of the cDNA and gene predict protein structure and suggest sites of regulatory control. 98. 37 Intron99. -. ATP. 100. 立立. 政治Intron 大. •‧. •‧ 國. ㈻㊫學 sit. n. al. er. io. 98. y. Nat. 97. Ch. engchi. i Un. 2003. v. Jackman RW, Beeler DL, Fritze L, Soff G, Rosenberg RD. Human thrombomodulin gene is intron. depleted: nucleic acid sequences of the cDNA and gene predict protein structure and suggest sites of regulatory control. Proc Natl Acad Sci U S A. 1987 Sep;84(18):6425-9. 99. Tom Strachan and Andrew Read, Human Molecular Genetics (4th Edition, 2010).. 100. Leber. (LHON). (MELAS). http://gene.hpa.gov.tw/index.php?mo=CasebPaper&action=paper1_show&sn=17(Last visited on 2016/02/24). 75.

(90) USPTO 1790 1836 USPTO 1980. 2001 Utility Examination Guidelines. DNA. DNA. DNA 101. 立立. •‧ 國. y. , 103. er. n. al. sit. Myriad. io. 101. •‧. USPTO. Nat. USPTO. 102. ㈻㊫學. Myriad. 政治 DNA 大. Ch. n engchi U. i:v. United States Patent and Trademark Office Utility Examination Guidelines, 66 Fed. Reg. 1092,. 1093 (Jan. 5, 2001). 102. Eileen M. Kane, Patenting Genes and Genetic Methods: What's at Stake?, 6 J. BUS. & TECH.. L. 1, 8(2010). 103. "Supreme Court Decision in Association for Molecular Pathology v. Myriad Genetics, Inc.", from. Andrew H. Hirshfeld, Deputy Commissoner For Patent Examination Policy. 76.

(91) 1. 101. 2.. cDNA (. ). 3. -MPEP2106. USPTO. Myriad. Mayo. 立立. )104. (. 政2014治3 大 4. 105. :. •‧ 國. ㈻㊫學. (Guidance For Determining Subject Matter Eligibility Of Claims Reciting Or. •‧. n. al. er. io. sit. y. Nat. Involving Laws of Nature, Natural Phenomena, & Natural Products). difference). 104. Ch. n engchi U. iv. (significant Myriad. Manual of Patent Examining Procedure (MPEP) 2106 Patent Subject Matter Eligibility, latest. revision August 2012, http://www.uspto.gov/web/offices/pac/mpep/s2106.html (Last visited on 2016/01/15) 105. 2014 Procedure For Subject Matter Eligibility Analysis Of Claims Reciting Or Involving Laws. OfNature/Natural Principles, Natural Phenomena, And/Or Natural Products", from Andrew H. Hirshfeld, Deputy Commissoner For Patent Examination Policy, http://www.uspto.gov/patents/law/exam/myriad-mayo_guidance.pdf (Last visited on 2016/01/15). 77.

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(93) ?. ,. ;. 101. 2. 2:. (judicial exceptions)? , 3 ( (. ) (. ). 立立. (. •‧ 國. •‧. (significantly different). io. sit. y. Nat. ?. 3. 政治大. ㈻㊫學. 3:. ). n. al. - MPEP2106. er. ). Ch. n engchi U. iv. 12 (. ). ( ,. a). g):. 79. ). 6. 41.

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(95) 1948. :. (the work of nature). (the laws of nature). (Product of nature). 立立. (processes). •‧ 國. ㈻㊫學. Funk Bros Seed Co. v. Kalo Inoculant Co. •‧. 1948. (substances) 政治大. n. 107. :. er. io. sit. y. Nat al. ni C h 107 engchi U. Charkarbarty. 81. v. (phenomena).

(96) 108. 1952. 103. Myriad. cDNA. cDNA. DNA DNA. DNA cDNA DNA. 立立. 政治大 cDNA. •‧ 國. •‧ (. y sit. n. Ch. n engchi U. iv. BRCA. DNA. DNA. 108. 2013. ). er. io. al. DNA. 9. DNA. ㈻㊫學. ). Nat. (. DNA. 12. 82.

(97) 109. DNA. (. ). 治 Diamond政 v. Chakrabarty 大. 立立. •‧. •‧ 國. ㈻㊫學. n. er. io. sit. y. Nat al. 109. Ch. n engchi U. iv. ? DNA. Guyan Liang, Molecules or Carriers of Biological Information: A Chemist’s Perspective on the. Patentability of Isolated Genes, 22 ALB. L.J. SCI. & TECH. 133 (2012). 83.

(98) 110. 111. 立立. 政治大. y sit. n. al. er. io. 110. Ch. 2011. iv. 181. 136. 112. 2011. 113. n engchi U. Myraid. 111. •‧. •‧ 國. ㈻㊫學 113. Nat. Myriad. 112. 2012. Cancer Voice Austl. V. Myriad Genetics, Inc. 2013 FCA 65 (Austl.).. 84. 2012. 2.

(99) 2011. 9. 16. (Leahy-Smith America. Invents Act, AIA)114. 27. (1). (2) (3) (4) 115. 2010. 4. 立立. 政治大. •‧ 國. ㈻㊫學. (Gene Patents and Licensing Practices and Their Impact on Patient Access. y. Nat io. sit. 117. al. iv. n. 114. 115. 118. er. 116. •‧. to Genetic Tests). n C h PUBLIC LAW Leahy-Smith America Invents Act of 2011, i U 112–29, 125 Stat. 284 (2011) e ngch. U.S. Patent & Trademark Office, AIA Studies and Reports—Genetic Testing,. http://www.uspto.gov/aia_implementation/aia_studies_reports.jsp#heading-3 (Last visited on 2015/12/1) 116. Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests,. http://osp.od.nih.gov/sites/default/files/SACGHS_patents_report_2010.pdf (Last visited on 2015/12/1) 117. 85.

(100) 119. 120. 121. Myriad. Myriad. ㈻㊫學. •‧. •‧ 國. 立立. 政治大. n. al. er. io. sit. y. Nat. 118. DNA. (multiplex test). n engchi U (whole-genome sequencing) Ch. i v(patent thicket). 119. 130. 120. 2010. Jacob D. Moore, The Forgotten victim in Human Gene Patenting Debate: Pharmaceutical. Companies, 63 Fla. L. Rev. 1277, 1305-1306 (2011). 121. 2012. DNA. 28. 3. 86.

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(102) 2013 BRCA1/2. 2015. 125. 126. 127. 128. 政治大 http://www.nytimes.com/2015/03/24/opinion/angelina-jolie-pitt-diary-of-a-surgery.html?smid=fb-nyti 立立. 125. Angelina Jolie Pitt: Diary of a Surgery, New York Times,. •‧ 國. ㈻㊫學. mes&smtyp=cur&bicmp=AD&bicmlukp=WT.mc_id&bicmst=1409232722000&bicmet=14197735220 00&_r=0 (Last visited on 2015/12/2). n. al. http://www.skh.org.tw/blood/test.html (. 127. 2010. mg/dl. er. io. sit. y. Nat. :. •‧. 126. Ch. v ni U e n :g2015 c h i 12 2. ). (Department of Health and Public Service). See generally, DEP’T OF HEALTH & HUMAN SERVS., REP. OF THE SEC’Y ADVISORY COMM. ONGENETICS, HEALTH & SOC’Y, GENE PATENTS AND LICENSING PRACTICES AND THEIR IMPACT ONPATIENT ACCESS TO GENETIC TESTS 94 (2010) (discussing how gene patents have limitedpatient access to genetic testing). 128. Arti Rai, Diagnostic Patents at the Supreme Court, 18 MARQ. INTELL. PROP. L. REV. 1, 3. (2014).. 88.

(103) 129. Myriad Myriad. cDNA. FDA. Myriad. Myriad. USPTO. 政治大. 立立. •‧. •‧ 國. ㈻㊫學. n. er. io. sit. y. Nat al. Ch. n engchi U. Myriad Myriad Myriad. 129. 2013. 6. 13. 82. 89. iv.

(104) 6. 30. 2014. Myriad. Myriad. 2012 2013 2014 23.62. 4.96 6.13 7.78. 26.92%. BRCA. 23.36. DNA. 26.92%. 6-1 Myriad : FY 2013 2013-06-30 613.2 23.62 533.5 87.02 228.0 37.18 147.1 24.00 1.82. n. Ch. (2015). y. sit. io. al. FY 2011 2011-06-30 402.1 10.87 355.4 88.38 157.8 39.24 100.7 25.05 1.12. FY 2010 2010-06-30 362.6 11.06 318.4 87.79 135.1 37.25 152.3 42.00 1.58. er. Nat. : Bloomberg (2015/03). 政治大. •‧. •‧ 國. 立立. FY 2012 2012-06-30 496.0 23.36 431.3 86.96 180.3 36.35 112.2 22.61 1.33. ㈻㊫學. FY 2014 2014-06-30 778.2 26.92 669.0 85.97 274.4 35.27 176.2 22.64 2.33. n engchi U. iv. : (1) cDNA (2)Myriad. cDNA. BRCAnalysis. FDA. PCR. cDNA cDNA cDNA 90.

(105) cDNA cDNA. cDNA Myriad. Myriad. cDNA. cDNA. FDA Myriad. cDNA. FDA. 政治大. 立立 FDA. Myriad. •‧. Nat. y. FDA 7. FDA. Prosigna Breast Cancer. er. io. sit. BRACAnalysis CDx. •‧ 國. 12. ㈻㊫學. 2015. n. a l MammaPrint INFORM Prognostic Gene Signature Assay HER2 Dual ISH DNA iv Ch. n engchi U. Probe Cocktail HER2 CISH pharmDxTM Kit GeneSearch Breast Lymph (BLN) Test Kit. Node. Dako TOP2A FISH PharmDx Kit DakoCytomation Her2 FISH. pharmDx™ Kit. HER2. Dual ISH DNA Probe Cocktail. INFORM HER2. HER2 CISH pharmDxTM Kit DakoCytomation. Her2 FISH pharmDx™ Kit BRACAnalysis CDx. Myriad. FDA. Myriad. 91.

(106) 130. 6-2 FDA Disease. Trade Name. Manufacturer. FDA Submission number. Acute Myeloid Leukemia. Vysis D7S486/CEP 7 FISH Probe Kit. K131508. B-cell chronic lymphocytic leukemia Bladder Cancer Breast Cancer. Vysis CLL FISH Probe Kit CEP 12 SpectrumOrange Direct Labeled Chromosome Enumeration DNA Probe. Abbott Molecular Inc. Abbott Molecular Inc. Vysis Vysis. Vysis. K033982,K013785,K0 11031 K130010. Vysis EGR1 FISH Probe Kit. Vysis UroVysion Bladder Cancer Recurrence Kit Prosigna Breast Cancer Prognostic Gene Signature Assay MammaPrint. 政治 Ventana 大 Medical. •‧ 國. •‧. sit. y. P050045S001-S004 P040005 P130017. n. er. io. 130. K101454,K081092,K0 80252,K070675,K0626 94 P100027. Systems, Inc. Dako Denmark A/S P100024 Veridex, LLC. P060017S001-S004. Dako Denmark A/S DakoCytomation Denmark A/S Exact Sciences Corporation al v Illumina MiSeqDx Cystic Fibrosis Clinical Illumina, n i Inc Ch U Sequencing Assay engchi Illumina MiSeqDx Cystic Fibrosis Illumina, Inc 139-Variant Assay eSensor CF Genotyping Test Osmetech Molecular Diagnostics xTAG Cystic Fibrosis 60 Kit v2 Luminex Molecular Diagnostics Inc. xTAG Cystic Fibrosis 39 Kit v2 Luminex Molecular Diagnostics Inc.. Nat. Colorectal Cancer Cystic Fibrosis. K100015 K962873. ㈻㊫學. INFORM HER2 Dual ISH DNA Probe Cocktail HER2 CISH pharmDxTM Kit GeneSearch Breast Lymph Node (BLN) Test Kit Dako TOP2A FISH PharmDx Kit DakoCytomation Her2 FISH pharmDx™ Kit Cologuard. 立立. Nanostring Technologies Agendia BV. K123951,K091960. K132750 K124006 K090901. K083845 K083846. List of Human Genetic Tests, FDA,. http://www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/ucm330711.ht m (Last visited on 2015/12/28). 92.

(107) Verigene CFTR and Verigene CFTR PolyT Nanosphere, Inc Nucleic Acid Tests InPlex CF Molecular Test Third Wave Technology, Inc. Cystic Fibrosis Genotyping Assay Celera Diagnostics Tag-It Cystic Fibrosis Kit Tm Bioscience Corporation eSensor Cystic Fibrosis Carrier Detection Clinical Micro System Sensors, Inc. Drug xTAG CYP2D6 Kit v3 Luminex Molecular metabolizing Diagnostics, Inc. enzymes Spartan RX CYP2C19 Test System Spartan Bioscience, Inc. Verigene CYP2C 19 Nucleic Acid Test Nanosphere, Inc. INFINITI CYP2C19 Assay AutoGenomics, Inc. Invader UGT1A1 Molecular Assay Third Wave Technologies Inc. Roche AmpliChip CYP450 microarray Roche Molecular Systems, Inc. eSensor Warfarin Sensitivity Saliva Test GenMark Diagnostics eQ-PCR LC Warfarin Genotyping kit TrimGen Corporation eSensor Warfarin Sensitivity Test and Osmetech XT-8 Instrument Molecular Diagnostics Gentris Rapid Genotyping Assay ParagonDx, LLC CYP2C9 & VKORCI INFINITI 2C9 & VKORC1 Multiplex AutoGenomics, Inc. Assay for Warfarin Verigene Warfarin Metabolism Nucleic Nanosphere, Inc. al v Acid Test and Verigene System ni Ch U Coagulation Invader Factor V Inc. i e n g c h Hologic, Factors Invader Factor II Hologic, Inc. Illumina VeraCode Genotyping Test for Illumina, Inc. Factor V and Factor II eSensor Thrombophilia Risk Test, eSensor Osmetech FII-FV Genotyping Test, eSensor Fll Molecular Genotyping Test, eSensor FV Genotyping Diagnostics Test, eSensor MTHFR Genotyping Test Xpert HemosIL FII & FV Cepheid Verigene F5 Nucleic Acid Test Nanosphere, Inc. Verigene F2 Nucleic Acid Test Verigene MTHFR Nucleic Acid Test INFINITI System Autogenomics, Inc. Factor II (Prothrombin) G20210A Kit Roche Diagnostics Corporation Factor V leiden Kit Roche Diagnostics Corporation. 立立. 政治大. K063787 K062028 K060627,K043011 K060543,K051435 K130189,K093420 K123891 K120466 K101683 K051824 K043576,K042259 K110786 K073071. K073014. n. er. io. sit. K071867. y. K073720. •‧. •‧ 國. ㈻㊫學. Nat. 93. K083294. K070804 K100980 K100943 K093129 K093974. K082118 K070597. K060564 K033612 K033607.

(108) Invader MTHFR 677 Invader MTHFR 1298 Chromosome Affymetrix CytoScan Dx Assay abnormalities AneuVysion CEP 8 Spectrumorange DNA Probe Kit CEP X SpectrumOrange/ Y SpectrumGreen DNA Probe Kit Heart AlloMap Molecular Expression Testing Transplant Ovarian BRACAnalysis CDx Cancer Prostate NADiA ProsVue Cancer PROGENSA PCA3 Assay Tissue of Pathwork Tissue of Origin Test Kit – FFPE Origin Pathwork Tissue of Origin Test. US FDA. K100987 K100496 K130313 K010288,K972200 K953591 K954214. xDx. K073482. Myriad Genetic Laboratories, Inc. Iris Molecular Diagnostics Gen-Probe, Inc. Pathwork Diagnostics Inc. Pathwork Diagnostics Inc.. P140020 K101185 P100033 K120489,K092967 K080896. (2016). 2014. 12. Lynparza 131. ㈻㊫學. BRCA(Breast Cancer). 立立. 19. 政治大. •‧ 國. : FDA. Hologic, Inc. Hologic, Inc. Affymetrix, Inc. Vysis Vysis Vysis. Myriad. BRCA. •‧. n. al. er. io. sit. y. Nat. Lynparza poly ADP-ribose polymerase (PARP). BRCA. Ch. n engchi U. iv. Lynparza. Lynparza. BRCA Lynparza 20. Myriad. 131. 2014 14,270. 94. BRCA. 21,980.

(109) Lynparza. DNA. cDNA. cDNA. mRNA. DNA. 立立. •‧. •‧ 國. ㈻㊫學. DNA. 政治大. n. er. io. sit. y. Nat al. Ch. n engchi U. DNA. iv. naturally occurring articles product of human ingenuity distinct 101. 95.

(110) DNA. 1988. 1987. 4. 12. non-naturally occurring non-human multicellular living organisms. 101. 132. 立立. 政治大. •‧. •‧ 國. ㈻㊫學. n. al. er. io. sit. y. Nat. 133. Ch. n engchi U. iv. DNA. 132. (has no standing) 101. 57. 133. 2003. 98/44/EC 1. 2006. 3. 96. 9. 3.

(111) 1998. 5. 12. Directive No. 98/4432. DNA. 立立. 政治大. •‧ 國. ㈻㊫學 30. n. er. io. al. Ch. n engchi U. DNA. iv. 1990. 1,000. 10 DNA. DNA Oxford Nanopore DNA. 2003. sit. y. Nat. 12. 100. •‧. 2015. MinIon. 97. 1 1000.

(112) DNA Biosystems Technologies. 2008. Applied. Invitrogen. Life Technologies. Life Thermo Fisher Scientific. 3.5. DNA. 136. Genia. 6-1. 立立. 政治大. •‧. •‧ 國. ㈻㊫學. n. er. io. sit. y. Nat al. 134. :. Ch. n engchi U. iv. (2015/11). DNA. 134. http://www.genomics.com.tw/tw/group_introduction.php ( 11. 24. ). 98. : 2015.

(113) 30. 1990. 10. 2007. 1. 1,000. DNA. DNA DNA DNA DNA. 20. (precision. •‧. Medicine initiative). 1. ㈻㊫學. 2015. •‧ 國. 立立. 政治大. y. Nat. er. io. sit. 1. n. al (Personalized and Precision Medicine , PPM ) iv Ch. 100. n engchi U. Victor Dzau. Lancet. 50 6 50% 50. 6070. 99. 30.

(114) PPM. 2.15 ICT (. ). DNA. 立立. DNA. Eve Biomedical. 100. y. Nat. n. er. io. 2005. sit. (Nanopore Sequencing). al. Ch. 1.45. n engchi U. DNA. DNA. •‧. •‧ 國. ㈻㊫學. DNA. 政DNA治大. iv. Oxford Nanopore MinIon. MinIon DNA. Biosystems Technologies. 2008 2013. Applied. Invitrogen. Life. Life Technologies. Thermo Fisher Scientific. Illumina. DNA. 100. 136.

(115) 123.39% Illumina. 67. DNA 3.5. DNA. Genia Marks & Clerk. Illumina Life Technologies 80. 135. 70. Illumina. (Sanofi). (Johnson & Johnson). (AstraZeneca). 政治大. 立立diagnostics) (companion. PCR. •‧. •‧ 國. ㈻㊫學. n. er. io. sit. y. Nat al. Ch. n engchi U. iv. 136. 135. 2014. MIT. Illumina. 2015. MIT. Illumina. 136. BTC (. ). BTC. 2008. BTC 2012. 101. BTC.

(116) 3,280. 6-3 : 2011 10,710 15,465 13,815 13,187 15,023 68,200. 政治大. ㈻㊫學. IEK. (2015). n. al. er. io. sit. y. Nat 2014. 2013 10,102 17,669 19,398 16,534 17,715 81,418. •‧. •‧ 國. 立立. :. 2012 10,512 16,758 17,351 14,729 16,699 76,049. Ch. n engchi U. iv. BTC. 2015. 102. -3.9% 5.4% 11.8% 12.3% 6.1% 7.1%.

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(118) 2001 3 (Single Nucleotide Polymorphism SNP) (Pharmacogenomics). NGS. NGS 2014 13. :. 2005 (Warfarin). (. Carbamazepine, Allopurinol. ) (. 政治大). 立立. •‧. •‧ 國. ㈻㊫學 er. io. sit. y. Nat n. al Carbamazepine Ch. n engchi U. (Stevens-Johnson Syndrome, SJS) TEN). GMP /ISO. 96. iv. (Toxic Epidermol Necrolysis, 9. 19. (. 0960329455. ). carbamazepine carbamazepine. /. Syndrome/Toxic Epidermal Necrolysis. SJS/TEN). (Odds Ratio HLA-B*1502. (Stevens-Johnson. 1357. HLA-B*1502 95% C.I.. Carbamazepine 104. 193-8838). SJS/TEN.

(119) HLA-B*1502. 193. 5%. HLA-B*1502 137. Carbamazepine. 6-5 1502. HLA-B*1502. HLA-B*1502 Carbamazepine(. (Asian descent). ) (Stevens-Johnson Syndrome, SJS) (Toxic Epidermol Necrolysis, TEN). 5801. HLA-B*1502 HLA-B*5801 Allopurinol ( SCAR(Severe Cutaneous Adverse Reaction:. HLA-B*5801. ). (Stevens-Johnson Syndrome, SJS) (Toxic Epidermol Necrolysis, TEN). 立立 HLA-B*5701. HLA-B*5701 Abacavir (ABC) (Hypersensitivity reaction, HSR) Abacavir ( , ABC) 5-8% HLA-B*5701 Abacavir. •‧ 國. n. al. er. io. sit. y. •‧. Nat. 137. 2011. 08. 02. HLA-B*5801. ㈻㊫學. 5701. 政治大. Ch. n engchi U. iv. Carbamazepine carbamazepinet. IC. HLA-B 1502. carbamazepine. HLA-B 1502. 4 Steven-Johnson. carbamazepine. 105.

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(121) 2015. 12 1. 66.67%. 2015. 15. 1. 5.9012 4.49. ㈻㊫學. •‧. NGS. Nat. y. PCR. 立立 26.50. 14. 政治大. 2016. io. sit. 12. 18. n. al. er. 2015. 12. •‧ 國. 1. 99.5%. 5.9012. Ch. n engchi U. DNA. iv. DNA. 107.

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