Recommendations for the integration of genomics into clinical practice

被引：115

作者：

Bowdin, Sarah ^{[1
,2
]}

Gilbert, Adel ^{[1
]}

Bedoukian, Emma ^{[3
,4
]}

Carew, Christopher ^{[1
]}

Adam, Margaret P. ^{[5
,6
]}

Belmont, John ^{[7
]}

Bernhardt, Barbara ^{[8
]}

Biesecker, Leslie ^{[9
]}

Bjornsson, Hans T. ^{[10
,11
]}

Blitzer, Miriam ^{[12
]}

D'Alessandro, Lisa C. A. ^{[13
]}

Deardorff, Matthew A. ^{[3
,4
,14
,15
]}

Demmer, Laurie ^{[16
]}

Elliott, Alison ^{[17
]}

Feldman, Gerald L. ^{[18
,19
]}

Glass, Ian A. ^{[5
,6
]}

Herman, Gail ^{[20
]}

Hindorff, Lucia ^{[21
]}

Hisama, Fuki ^{[22
]}

Hudgins, Louanne ^{[23
]}

Innes, A. Micheil ^{[24
,25
]}

Jackson, Laird ^{[26
]}

Jarvik, Gail ^{[21
]}

Kim, Raymond ^{[26
]}

Korf, Bruce ^{[27
]}

Ledbetter, David H. ^{[28
]}

Li, Mindy ^{[15
,29
]}

Liston, Eriskay ^{[26
]}

Marshall, Christian ^{[30
]}

Medne, Livija ^{[2
,3
]}

Meyn, M. Stephen ^{[1
,26
]}

Monfared, Nasim ^{[26
]}

Morton, Cynthia ^{[31
,32
]}

Mulvihill, John J. ^{[33
]}

Plon, Sharon E. ^{[34
]}

Rehm, Heidi ^{[31
,32
]}

Roberts, Amy ^{[32
,35
,36
]}

Shuman, Cheryl ^{[1
,26
]}

Spinner, Nancy B. ^{[15
,29
]}

Stavropoulos, D. James ^{[30
]}

Valverde, Kathleen ^{[37
]}

Waggoner, Darrel J. ^{[38
]}

Wilkens, Alisha ^{[3
,4
]}

Cohn, Ronald D. ^{[1
,26
]}

Krantz, Ian D. ^{[3
,14
,15
]}

机构：

[1] Univ Toronto, Hosp Sick Children, Dept Pediat, Ctr Genet Med, Toronto, ON, Canada

[2] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON, Canada

[3] Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Individualized Med Genet Ctr, Philadelphia, PA 19104 USA

[4] Childrens Hosp Philadelphia, Dept Pathol, Div Human Genet, Individualized Med Genet Ctr, Philadelphia, PA USA

[5] Univ Washington, Sch Med, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA

[6] Seattle Childrens Hosp, Seattle, WA USA

[7] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA

[8] Hosp Univ Penn, Div Translat Med & Human Genet, 3400 Spruce St, Philadelphia, PA 19104 USA

[9] NIH, Med Genom & Metab Genet Branch, Natl Human Genome Res Inst, Bldg 10, Bethesda, MD 20892 USA

[10] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA

[11] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

[12] Univ Maryland, Sch Med, Dept Pediat, Div Human Genet, Baltimore, MD 21201 USA

[13] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON, Canada

[14] Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA

[15] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA

[16] Carolinas Med Ctr, Dept Pediat, Charlotte, NC 28203 USA

[17] Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada

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

[19] Wayne State Univ, Sch Med, Dept Pediat & Pathol, Detroit, MI USA

[20] Ohio State Univ, Nationwide Childrens Hosp, Ctr Mol & Human Genet, Columbus, OH 43210 USA

[21] NHGRI, Div Genom Med, NIH, Bethesda, MD 20892 USA

[22] Univ Washington, Dept Med, Div Med Genet, Seattle, WA USA

[23] Stanford Univ, Sch Med, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA

[24] Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada

[25] Univ Calgary, Cumming Sch Med, Alberta Childrens Hosp Res Inst, Calgary, AB, Canada

[26] Drexel Univ, Coll Med, Dept Obstet & Gynecol, Philadelphia, PA 19104 USA

[27] Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA

[28] Geisinger Hlth Syst, Danville, PA USA

[29] Univ Penn, Childrens Hosp Philadelphia, Dept Pathol, Div Genom Diagnost, Philadelphia, PA 19104 USA

[30] Univ Toronto, Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, Canada

[31] Brigham & Womens Hosp, Dept Obstet Gynecol & Reprod Med, Boston, MA USA

[32] Harvard Univ, Sch Med, Boston, MA USA

[33] Univ Oklahoma, Dept Pediat, Oklahoma City, OK USA

[34] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[35] Boston Childrens Hosp, Dept Med, Dept Cardiol, Boston, MA USA

[36] Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA USA

[37] Arcadia Univ, Coll Hlth Sci, Glenside, PA USA

[38] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

来源：

GENETICS IN MEDICINE | 2016年 / 18卷 / 11期

关键词：

clinical genetics; genomics; genetics counseling; phenotyping; precision medicine; MORPHOLOGY STANDARD TERMINOLOGY; HUMAN PHENOTYPE ONTOLOGY; INFORMED-CONSENT; INCIDENTAL FINDINGS; INSITU HYBRIDIZATION; SEQUENCE VARIANTS; MEDICAL-GENETICS; ELEMENTS; RETURN; DISEASE;

D O I：

10.1038/gim.2016.17

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing the scope of practice for clinical geneticists. Many large institutions are making a significant investment in infrastructure and technology, allowing clinicians to access CGES, especially as health-care coverage begins to extend to clinically indicated genomic sequencing-based tests. Translating and realizing the comprehensive clinical benefits of genomic medicine remain a key challenge for the current and future care of patients. With the increasing application of CGES, it is necessary for geneticists and other health-care providers to understand its benefits and limitations in order to interpret the clinical relevance of genomic variants identified in the context of health and disease. New, collaborative working relationships with specialists across diverse disciplines (e.g., clinicians, laboratorians, bioinformaticians) will undoubtedly be key attributes of the future practice of clinical genetics and may serve as an example for other specialties in medicine. These new skills and relationships will also inform the development of the future model of clinical genetics training curricula. To address the evolving role of the clinical geneticist in the rapidly changing climate of genomic medicine, two Clinical Genetics Think Tank meetings were held that brought together physicians, laboratorians, scientists, genetic counselors, trainees, and patients with experience in clinical genetics, genetic diagnostics, and genetics education. This article provides recommendations that will guide the integration of genomics into clinical practice.

引用

页码：1075 / 1084

页数：10

共 67 条

[1]

ACMG Board of Directors, 2013, Genet Med, V15, P748, DOI 10.1038/gim.2013.94

[2]

Elements of Morphology: Standard Terminology for the Head and Face [J].

Allanson, Judith E. ;

Cunniff, Christopher ;

Hoyme, H. Eugene ;

McGaughran, Julie ;

Muenke, Max ;

Neri, Giovanni .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) :6-28

[3]

Elements of Morphology: Introduction [J].

Allanson, Judith E. ;

Biesecker, Leslie G. ;

Carey, John C. ;

Hennekam, Raoul C. M. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) :2-5

[4]

Actionable exomic incidental findings in 6503 participants: challenges of variant classification [J].

Amendola, Laura M. ;

Dorschner, Michael O. ;

Robertson, Peggy D. ;

Salama, Joseph S. ;

Hart, Ragan ;

Shirts, Brian H. ;

Murray, Mitzi L. ;

Tokita, Mari J. ;

Gallego, Carlos J. ;

Kim, Daniel Seung ;

Bennett, James T. ;

Crosslin, David R. ;

Ranchalis, Jane ;

Jones, Kelly L. ;

Rosenthal, Elisabeth A. ;

Jarvik, Ella R. ;

Itsara, Andy ;

Turner, Emily H. ;

Herman, Daniel S. ;

Schleit, Jennifer ;

Burt, Amber ;

Jamal, Seema M. ;

Abrudan, Jenica L. ;

Johnson, Andrew D. ;

Conlin, Laura K. ;

Dulik, Matthew C. ;

Santani, Avni ;

Metterville, Danielle R. ;

Kelly, Melissa ;

Foreman, Ann Katherine M. ;

Lee, Kristy ;

Taylor, Kent D. ;

Guo, Xiuqing ;

Crooks, Kristy ;

Kiedrowski, Lesli A. ;

Raffe, Leslie J. ;

Gordon, Ora ;

Machini, Kalotina ;

Desnick, Robe ;

Biesecker, Leslie G. ;

Lubitz, Steven A. ;

Mulchandani, Surabhi ;

Cooper, Greg M. ;

Joffe, Steven ;

Richards, C. Sue ;

Yang, Yaoping ;

Rotter, Jerome I. ;

Rich, Stephen S. ;

O'Donne, Christopher J. ;

Berg, Jonathan S. .

GENOME RESEARCH, 2015, 25 (03) :305-315

[5]

[Anonymous], 2012, GENET MED, V14, P759

[6]

MODELS OF CONSENT TO RETURN OF INCIDENTAL FINDINGS IN GENOMIC RESEARCH [J].

Appelbaum, Paul S. ;

Parens, Erik ;

Waldman, Cameron R. ;

Klitzman, Robert ;

Fyer, Abby ;

Martinez, Josue ;

Price, W. Nicholson, II ;

Chung, Wendy K. .

HASTINGS CENTER REPORT, 2014, 44 (04) :22-32

[7]

Clinical whole-exome sequencing: are we there yet? [J].

Atwal, Paldeep Singh ;

Brennan, Marie-Louise ;

Cox, Rachel ;

Niaki, Michael ;

Platt, Julia ;

Homeyer, Margaret ;

Kwan, Andrea ;

Parkin, Sylvie ;

Schelley, Susan ;

Slattery, Leah ;

Wilnai, Yael ;

Bernstein, Jonathan Adam ;

Enns, Gregory M. ;

Hudgins, Louanne .

GENETICS IN MEDICINE, 2014, 16 (09) :717-719

[8]

Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process [J].

Ayuso, Carmen ;

Millan, Jose M. ;

Mancheno, Marta ;

Dal-Re, Rafael .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (10) :1054-1059

[9]

Informed Consent for Exome Sequencing Research in Families with Genetic Disease: The Emerging Issue of Incidental Findings [J].

Bergner, Amanda L. ;

Bollinger, Juli ;

Raraigh, Karen S. ;

Tichnell, Crystal ;

Murray, Brittney ;

Blout, Carrie Lynn ;

Telegrafi, Aida Bytyci ;

James, Cynthia A. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (11) :2745-2752

[10]

Biesecker LG, 2014, NEW ENGL J MED, V370, P2418, DOI [10.1056/NEJMra1312543, 10.1056/NEJMc1408914]

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