The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health-Centers for Disease Control and Prevention Multidisciplinary Workshop

被引：150

作者：

Khoury, Muin J. ^{[1
,2
]}

McBride, Colleen M. ^{[3
]}

Schully, Sheri D. ^{[2
]}

Ioannidis, John P. A. ^{[4
,5
]}

Feero, W. Gregory ^{[3
]}

Janssens, A. Cecile J. W. ^{[6
]}

Gwinn, Marta ^{[1
]}

Simons-Morton, Denise G. ^{[7
]}

Bernhardt, Jay M. ^{[8
]}

Cargill, Michele ^{[9
]}

Chanock, Stephen J. ^{[2
]}

Church, George M. ^{[10
]}

Coates, Ralph J. ^{[1
]}

Collins, Francis S. ^{[3
]}

Croyle, Robert T. ^{[2
]}

Davis, Barry R. ^{[11
]}

Downing, Gregory J. ^{[12
]}

DuRoss, Amy ^{[9
]}

Friedman, Susan ^{[13
]}

Gail, Mitchell H. ^{[2
]}

Ginsburg, Geoffrey S. ^{[14
]}

Green, Robert C. ^{[15
,16
,17
,18
,19
,20
]}

Greene, Mark H. ^{[2
]}

Greenland, Philip ^{[21
]}

Gulcher, Jeffrey R. ^{[22
]}

Hsu, Andro ^{[23
]}

Hudson, Kathy L. ^{[24
]}

Kardia, Sharon L. R. ^{[25
]}

Kimmel, Paul L. ^{[26
]}

Lauer, Michael S. ^{[7
]}

Miller, Amy M. ^{[27
]}

Offit, Kenneth ^{[28
]}

Ransohoff, David F. ^{[29
,30
,31
]}

Roberts, J. Scott ^{[32
]}

Rasooly, Rebekah S. ^{[26
]}

Stefansson, Kari ^{[22
]}

Terry, Sharon F. ^{[33
]}

Teutsch, Steven M. ^{[34
]}

Trepanier, Angela ^{[35
]}

Wanke, Kay L. ^{[36
]}

Witte, John S. ^{[37
]}

Xu, Jianfeng ^{[38
]}

机构：

[1] Ctr Dis Control & Prevent, Off Publ Hlth Genom, Atlanta, GA 30333 USA

[2] NCI, NIH, Bethesda, MD 20892 USA

[3] NHGRI, NIH, Bethesda, MD 20892 USA

[4] Univ Ioannina, Sch Med, Dept Epidemiol, GR-45110 Ioannina, Greece

[5] Tufts Univ, Sch Med, Boston, MA 02111 USA

[6] Erasmus Univ, Dept Epidemiol & Biostat, Med Ctr, NL-3000 DR Rotterdam, Netherlands

[7] NHLBI, NIH, Bethesda, MD 20892 USA

[8] Ctr Dis Control & Prevent, Natl Ctr Hlth Mkt, Atlanta, GA USA

[9] Navigenics, Redwood Shores, CA USA

[10] Harvard Univ, Sch Med, Dept Genet, Boston, MA USA

[11] Univ Texas Houston, Sch Publ Hlth, Dept Biostat, Houston, TX USA

[12] US Dept HHS, Washington, DC 20201 USA

[13] FORCE, Tampa, FL USA

[14] Duke Univ, Inst Genome Sci & Policy, Ctr Genom Med, Durham, NC USA

[15] Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA

[16] Boston Univ, Sch Med, Dept Med Genet, Boston, MA 02118 USA

[17] Boston Univ, Sch Med, Dept Epidemiol, Boston, MA 02118 USA

[18] Boston Univ, Sch Publ Hlth, Dept Neurol, Boston, MA USA

[19] Boston Univ, Sch Publ Hlth, Dept Med Genet, Boston, MA USA

[20] Boston Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA USA

[21] Northwestern Univ, Dept Prevent Med, Feinberg Sch Med, Chicago, IL 60611 USA

[22] deCODE Genet, Reykjavik, Iceland

[23] 23andMe Inc, Mountain View, CA USA

[24] Johns Hopkins Univ, Genet & Publ Policy Ctr, Washington, DC USA

[25] Univ Michigan, Sch Publ Hlth, Dept Epidemiol, Ann Arbor, MI 48109 USA

[26] NIDDKD, NIH, Bethesda, MD 20892 USA

[27] Personalized Med Coalit, Washington, DC USA

[28] Mem Sloan Kettering Canc Ctr, Clin Genet Serv, New York, NY 10021 USA

[29] Univ N Carolina, Dept Med, Chapel Hill, NC USA

[30] Univ N Carolina, Dept Epidemiol, Chapel Hill, NC USA

[31] Univ N Carolina, Dept Biostat, Chapel Hill, NC USA

[32] Univ Michigan, Sch Publ Hlth, Dept Hlth Behav & Hlth Educ, Ann Arbor, MI 48109 USA

[33] Genet Alliance, Washington, DC USA

[34] Los Angeles Cty Dept Publ Hlth, Los Angeles, CA USA

[35] Wayne State Univ, Ctr Mol Med & Genet, Detroit, MI USA

[36] NIH, Off Behav & Social Sci Res, Bethesda, MD 20892 USA

[37] Univ Calif San Francisco, Dept Epidemiol & Biostat, Inst Human Genet, San Francisco, CA 94143 USA

[38] Wake Forest Univ, Sch Med, Ctr Canc Genom, Winston Salem, NC 27109 USA

来源：

GENETICS IN MEDICINE | 2009年 / 11卷 / 08期

关键词：

behavioral sciences; epidemiologic methods; evidence-based medicine; genetics; genetic testing; genomics; medicine; public health; GENETIC RISK FEEDBACK; ALZHEIMERS-DISEASE; WIDE ASSOCIATION; COMMON DISEASE; SUSCEPTIBILITY; IMPACT; BEHAVIOR; PHARMACOGENOMICS; POPULATION; CARE;

D O I：

10.1097/GIM.0b013e3181b13a6c

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The increasing availability of personal genomic tests has led to discussions about the validity and utility of such tests and the balance of benefits and harms. A multidisciplinary workshop was convened by the National Institutes of Health and the Centers for Disease Control and Prevention to review the scientific foundation for using personal genomics in risk assessment and disease prevention and to develop recommendations for targeted research. The clinical validity and utility of personal genomics is a moving target with rapidly developing discoveries but little translation research to close the gap between discoveries and health impact. Workshop participants made recommendations in five domains: (1) developing and applying scientific standards for assessing personal genomic tests; (2) developing and applying a multidisciplinary research agenda, including observational studies and clinical trials to fill knowledge gaps in clinical validity and utility; (3) enhancing credible knowledge synthesis and information dissemination to clinicians and consumers; (4) linking scientific findings to evidence-based recommendations for use of personal genomics; and (5) assessing how the concept of personal utility can affect health benefits, costs, and risks by developing appropriate metrics for evaluation. To fulfill the promise of personal genomics, a rigorous multidisciplinary research agenda is needed. Genet Med 2009:11(8):559-567.

引用

页码：559 / 567

页数：9

共 93 条

[1]

*AG HEALTHC RES QU, COMP BAS CLIN DEC SU

[2] Genetic Mapping in Human Disease [J].

Altshuler, David ;

Daly, Mark J. ;

Lander, Eric S. .

SCIENCE, 2008, 322 (5903) :881-888

[3]

[Anonymous], US SYST OV GEN TEST

[4]

[Anonymous], PERSONALIZED MED COA

[5] Recommendations from the EGAPP Working Group: can tumor gene expression in patients with breast cancer? [J].

Berg, Alfred O. ;

Grp, E. G. A. P. P. Working ;

Armstrong, Katrina ;

Botkin, Jeffrey ;

Calonge, Ned ;

Haddow, James ;

Hayes, Maxine ;

Kaye, Celia ;

Phillips, Kathryn A. ;

Piper, Margaret ;

Richards, Carolyn Sue ;

Scott, Joan A. ;

Strickland, Ora L. ;

Teutsch, Steven .

GENETICS IN MEDICINE, 2009, 11 (01) :66-73

[6]

Berg AO, 2009, GENET MED, V11, P35, DOI [10.1097/GIM.0b013e318181fa2ff, 10.1097/GIM.0b013e31818fa2ff]

[7] Recommendations from the EGAPP Working Group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? [J].

Berg, Alfred O. ;

Armstrong, Katrina ;

Borkin, Jeffrey ;

Calonge, Ned ;

Haddow, James ;

Hayes, Maxine ;

Kaye, Celia ;

Phillips, Kathryn A. ;

Piper, Margaret ;

Richards, Carolyn Sue ;

Scott, Joan A. ;

Strickland, Ora L. ;

Teutsch, Steven .

GENETICS IN MEDICINE, 2009, 11 (01) :15-20

[8]

BRAUTBAR A, AM HEART ASS M 2008

[9] Size matters: just how big is BIG? Quantifying realistic sample size requirements for human genome epidemiology [J].

Burton, Paul R. ;

Hansell, Anna L. ;

Fortier, Isabel ;

Manolio, Teri A. ;

Khoury, Muin J. ;

Little, Julian ;

Elliott, Paul .

INTERNATIONAL JOURNAL OF EPIDEMIOLOGY, 2009, 38 (01) :263-273

[10]

*CDCP, GEN APPL PRACT PREV

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