Reflections on the Cost of "Low-Cost" Whole Genome Sequencing: Framing the Health Policy Debate

被引：59

作者：

Caulfield, Timothy ^{[1
]}

Evans, Jim ^{[2
]}

McGuire, Amy ^{[3
]}

McCabe, Christopher ^{[4
]}

Bubela, Tania ^{[5
]}

Cook-Deegan, Robert ^{[6
,7
]}

Fishman, Jennifer ^{[8
]}

Hogarth, Stuart ^{[9
]}

Miller, Fiona A. ^{[10
]}

Ravitsky, Vardit ^{[11
]}

Biesecker, Barbara ^{[12
,13
,14
]}

Borry, Pascal ^{[15
]}

Cho, Mildred K. ^{[16
]}

Carroll, June C. ^{[17
,18
]}

Etchegary, Holly ^{[19
]}

Joly, Yann ^{[20
]}

Kato, Kazuto ^{[21
,22
]}

Lee, Sandra Soo-Jin ^{[16
,23
]}

Rothenberg, Karen ^{[24
]}

Sankar, Pamela ^{[25
]}

Szego, Michael J. ^{[26
,27
,28
]}

Ossorio, Pilar ^{[29
,30
]}

Pullman, Daryl ^{[19
]}

Rousseau, Francois ^{[31
,32
]}

Ungar, Wendy J. ^{[10
,33
]}

Wilson, Brenda ^{[34
]}

机构：

[1] Univ Alberta, Hlth Law Inst, Edmonton, AB, Canada

[2] UNC Sch Med, Dept Genet, Chapel Hill, NC USA

[3] Baylor Coll Med, Ctr Med Eth & Hlth Policy, Houston, TX 77030 USA

[4] Univ Alberta, Dept Emergency Med, Edmonton, AB, Canada

[5] Univ Alberta, Sch Publ Hlth, Edmonton, AB, Canada

[6] Duke Univ, Inst Genome Sci & Policy, Durham, NC USA

[7] Duke Univ, Sanford Sch Publ Policy, Durham, NC USA

[8] McGill Univ, Biomed Eth Unit, Montreal, PQ, Canada

[9] Kings Coll London, Dept Social Sci Hlth & Med, London WC2R 2LS, England

[10] Univ Toronto, Inst Hlth Policy Management & Evaluat, Toronto, ON, Canada

[11] Univ Montreal, Fac Med, Bioeth Programs, Montreal, PQ H3C 3J7, Canada

[12] Johns Hopkins Univ JHU, Genet Counseling Program, Bethesda, MD USA

[13] Natl Human Genome Res Inst NHGRI, Social & Behav Res Branch SBRB, Bethesda, MD USA

[14] NHGRI, Natl Inst Hlth NIH, Bethesda, MD 20892 USA

[15] Katholieke Univ Leuven, Dept Publ Hlth & Primary Care, Louvain, Belgium

[16] Stanford Univ, Stanford Ctr Biomed Eth, Stanford, CA 94305 USA

[17] Univ Toronto, Dept Family & Community Med, Toronto, ON M5S 1A1, Canada

[18] Mt Sinai Hosp, Granovsky Gluskin Family Med Ctr, Toronto, ON M5G 1X5, Canada

[19] Mem Univ Newfoundland, Fac Med, St John, NF, Canada

[20] McGill Univ, Fac Med, Dept Human Genet, Montreal, PQ, Canada

[21] Osaka Univ, Grad Sch Med, Dept Biomed Eth & Publ Policy, Suita, Osaka, Japan

[22] Kyoto Univ, Inst Integrated Cell Mat Sci, Kyoto, Japan

[23] Stanford Univ, Program Sci Technol & Soc, Stanford, CA 94305 USA

[24] NHGRI, Natl Inst Hlth, Bethesda, MD 20892 USA

[25] Univ Penn, Dept Med Eth & Hlth Policy, Perelman Sch Med, Philadelphia, PA 19104 USA

[26] Univ Toronto, McLaughlin Ctr, Ctr Clin Eth, Toronto, ON, Canada

[27] Joint Ctr Bioeth, Ctr Clin Eth, Toronto, ON, Canada

[28] Hosp Sick Children, Ctr Appl Gen, Toronto, ON M5G 1X8, Canada

[29] Univ Wisconsin, Sch Law, Madison, WI 53706 USA

[30] Morgridge Inst Res, Madison, WI USA

[31] CHU, Quebec Res Ctr, Quebec City, PQ, Canada

[32] Univ Laval, Fac Med, Quebec City, PQ G1K 7P4, Canada

[33] Hosp Sick Children, Program Child Hlth Evaluat Sci, Toronto, ON M5G 1X8, Canada

[34] Univ Ottawa, Dept Epidemiol & Community Med, Ottawa, ON, Canada

来源：

PLOS BIOLOGY | 2013年 / 11卷 / 11期

关键词：

SCIENCE; TESTS; HYPE;

D O I：

10.1371/journal.pbio.1001699

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The cost of whole genome sequencing is dropping rapidly. There has been a great deal of enthusiasm about the potential for this technological advance to transform clinical care. Given the interest and significant investment in genomics, this seems an ideal time to consider what the evidence tells us about potential benefits and harms, particularly in the context of health care policy. The scale and pace of adoption of this powerful new technology should be driven by clinical need, clinical evidence, and a commitment to put patients at the centre of health care policy.

引用

页数：6

共 58 条

[11] Science and the Sources of Hype [J].