ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

被引:172
作者
Miller, David T. [1 ]
Lee, Kristy [2 ]
Abul-Husn, Noura S. [3 ,4 ]
Amendla, Laura M. [5 ]
Brothers, Kyle [6 ]
Chung, Wendy K. [7 ,8 ]
Gollob, Michael H. [9 ]
Gordon, Adam S. [10 ]
Harrison, Steven M. [11 ]
Hershberger, Ray E. [12 ,13 ]
Klein, Teri E. [14 ,15 ]
Richards, Carolyn Sue [16 ]
Stewart, Douglas R. [17 ]
Martin, Christa Lese [18 ]
机构
[1] Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
[2] Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA
[3] Icahn Sch Med Mt Sinai, Inst Genom Hlth, Dept Med, New York, NY 10029 USA
[4] Icahn Sch Med Mt Sinai, Inst Genom Hlth, Dept Genet & Genom Sci, New York, NY 10029 USA
[5] Illumina Inc, San Diego, CA USA
[6] Univ Louisville, Dept Pediat, Louisville, KY 40292 USA
[7] Columbia Univ, Dept Pediat, New York, NY 10027 USA
[8] Columbia Univ, Dept Med, New York, NY USA
[9] Univ Toronto, Dept Physiol, Div Cardiol, Toronto, ON, Canada
[10] Northwestern Univ, Feinberg Sch Med, Ctr Genet Med, Dept Pharmacol, Chicago, IL 60611 USA
[11] Ambry Genet, Aliso Viejo, CA USA
[12] Ohio State Univ, Dept Internal Med, Div Human Genet, Columbus, OH 43210 USA
[13] Ohio State Univ, Dept Internal Med, Div Cardiovasc Med, Columbus, OH 43210 USA
[14] Stanford Univ, Dept Biomed Data Sci, Stanford, CA 94305 USA
[15] Stanford Univ, Dept Med, Stanford, CA 94305 USA
[16] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA
[17] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, Rockville, MD USA
[18] Geisinger, Autism & Dev Med Inst, Danville, PA USA
[19] Amer Coll Med Genet & Genom, Bethesda, MD USA
关键词
Exome sequencing; Genome sequencing; Incidental findings; Secondary findings; RECOMMENDATIONS; ASSOCIATION; MUTATIONS; AFRICAN; VARIANT;
D O I
10.1016/j.gim.2022.04.006
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Disclaimer: This statement is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinicians should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted, and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures. Requests for permissions must be directed to the American College of Medical Genetics and Genomics, as rights holder.
引用
收藏
页码:1407 / 1414
页数:8
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