Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization

被引：14

作者：

Eno, Celeste ^{[1
]}

Bayrak-Toydemir, Pinar ^{[2
]}

Bean, Lora ^{[3
,4
]}

Braxton, Alicia ^{[5
]}

Chao, Elizabeth C. ^{[6
]}

El-Khechen, Dima ^{[7
]}

Esplin, Edward D. ^{[8
]}

Friedman, Bethany ^{[9
]}

Hagman, Kelly D. Farwell ^{[7
]}

Hambuch, Tina ^{[8
]}

Hernandez, Amy ^{[10
]}

Juusola, Jane ^{[9
]}

Londre, Gina ^{[11
]}

Machado, Jerry ^{[11
]}

Mao, Rong ^{[2
]}

Mighion, Lindsey ^{[3
]}

Rehm, Heidi L. ^{[10
]}

Ward, Patricia ^{[5
]}

Deignan, Joshua L. ^{[1
]}

机构：

[1] Univ Calif Los Angeles, Los Angeles, CA 90095 USA

[2] Univ Utah, ARUP Labs, Salt Lake City, UT USA

[3] EGL Genet, Tucker, GA USA

[4] Emory Univ, Atlanta, GA 30322 USA

[5] Baylor Coll Med, Baylor Genet, Houston, TX 77030 USA

[6] Univ Calif Irvine, Irvine, CA USA

[7] Ambry Genet, Aliso Viejo, CA USA

[8] Invitae Corp, San Francisco, CA USA

[9] GeneDx, Gaithersburg, MD USA

[10] Partners HealthCare, Lab Mol Med, Cambridge, MA USA

[11] PreventionGenetics, Marshfield, WI USA

来源：

GENETICS IN MEDICINE | 2019年 / 21卷 / 04期

关键词：

exome; genome; sequencing; parentage; ethics; REPORTING INCIDENTAL FINDINGS; MEDICAL GENETICS; AMERICAN-COLLEGE; INFORMED-CONSENT; WHOLE-EXOME; RECOMMENDATIONS; GUIDELINES; GENOMICS; FORMS;

D O I：

10.1038/s41436-018-0265-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: Clinical laboratories performing exome or genome sequencing (ES/GS) are familiar with the challenges associated with proper consenting for and reporting of medically actionable secondary findings based on recommendations from the American College of Medical Genetics and Genomics (ACMG). Misattributed parentage is another type of unanticipated finding a laboratory may encounter during family-based ES/GS; however, there are currently no professional recommendations related to the proper consenting for and reporting of misattributed parentage encountered during ES/GS. Methods: We surveyed 10 clinical laboratories offering family-based ES/GS regarding their consent language, discovery, and reporting of misattributed parentage. Results: Many laboratories have already developed their own practices/policies for these issues, which do not necessarily agree with those from other labs. Conclusion: There are several other possibilities besides true misattributed parentage that could result in similar laboratory findings, and laboratories often feel they lack sufficient information to make formal conclusions on a report regarding the true genetic relatedness of the submitted samples. However, understanding the genetic relatedness (or lack thereof) of the samples submitted for family-based ES/GS has medical relevance. Therefore, professional recommendations for the appropriate handling of suspected misattributed parentage encountered during ES/GS are needed to help standardize current clinical laboratory practices.

引用

页码：861 / 866

页数：6

共 21 条

[1]

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

[2]

Andrews LB, 1994, GENETIC TESTING ASSE, P59

[3]

[Anonymous], 1983, Fed Regist, V48, P34408

[4] 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

[5] Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents [J].

Botkin, Jeffrey R. ;

Belmont, John W. ;

Berg, Jonathan S. ;

Berkman, Benjamin E. ;

Bombard, Yvonne ;

Holm, Ingrid A. ;

Levy, Howard P. ;

Ormond, Kelly E. ;

Saal, Howard M. ;

Spinner, Nancy B. ;

Wilfond, Benjamin S. ;

McInerney, Joseph D. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2015, 97 (01) :6-21

[6]

Budowle B, 1999, J FORENSIC SCI, V44, P1277

[7] Variation among Consent Forms for Clinical Whole Exome Sequencing [J].

Fowler, Sara A. ;

Saunders, Carol J. ;

Hoffman, Mark A. .

JOURNAL OF GENETIC COUNSELING, 2018, 27 (01) :104-114

[8] ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing [J].

Green, Robert C. ;

Berg, Jonathan S. ;

Grody, Wayne W. ;

Kalia, Sarah S. ;

Korf, Bruce R. ;

Martin, Christa L. ;

McGuire, Amy L. ;

Nussbaum, Robert L. ;

O'Daniel, Julianne M. ;

Ormond, Kelly E. ;

Rehm, Heidi L. ;

Watson, Michael S. ;

Williams, Marc S. ;

Biesecker, Leslie G. .

GENETICS IN MEDICINE, 2013, 15 (07) :565-574

[9] Towards a European consensus for reporting incidental findings during clinical NGS testing [J].

Hehir-Kwa, Jayne Y. ;

Claustres, Mireille ;

Hastings, Ros J. ;

van Ravenswaaij-Arts, Conny ;

Christenhusz, Gabrielle ;

Genuardi, Maurizio ;

Melegh, Bela ;

Cambon-Thomsen, Anne ;

Patsalis, Philippos ;

Vermeesch, Joris ;

Cornel, Martina C. ;

Searle, Beverly ;

Palotie, Aarno ;

Capoluongo, Ettore ;

Peterlin, Borut ;

Estivill, Xavier ;

Robinson, Peter N. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (12) :1601-1606

[10] Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics [J].

Kalia, Sarah S. ;

Adelman, Kathy ;

Bale, Sherri J. ;

Chung, Wendy K. ;

Eng, Christine ;

Evans, James P. ;

Herman, Gail E. ;

Hufnagel, Sophia B. ;

Klein, Teri E. ;

Korf, Bruce R. ;

McKelvey, Kent D. ;

Ormond, Kelly E. ;

Richards, C. Sue ;

Vlangos, Christopher N. ;

Watson, Michael ;

Martin, Christa L. ;

Miller, David T. .

GENETICS IN MEDICINE, 2017, 19 (02) :249-255

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