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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Guideline

Affiliations

• ¹ Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA. rcgreen@genetics.med.harvard.edu

• PMID: 23788249
• PMCID: PMC3727274
• DOI: 10.1038/gim.2013.73

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Guideline

Robert C Green et al. Genet Med. 2013 Jul.

• ¹ Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA. rcgreen@genetics.med.harvard.edu

• PMID: 23788249
• PMCID: PMC3727274
• DOI: 10.1038/gim.2013.73

Item in Clipboard

• CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

  Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG. Green RC, et al. Genet Med. 2017 May;19(5):606. doi: 10.1038/gim.2017.18. Genet Med. 2017. PMID: 28492529 No abstract available.

In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of Medical Genetics and Genomics (ACMG) recently published a policy statement on clinical sequencing that emphasized the importance of alerting the patient to the possibility of such results in pretest patient discussions, clinical testing, and reporting of results. The ACMG appointed a Working Group on Incidental Findings in Clinical Exome and Genome Sequencing to make recommendations about responsible management of incidental findings when patients undergo exome or genome sequencing. This Working Group conducted a year-long consensus process, including an open forum at the 2012 Annual Meeting and review by outside experts, and produced recommendations that have been approved by the ACMG Board. Specific and detailed recommendations, and the background and rationale for these recommendations, are described herein. The ACMG recommends that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here. This evaluation and reporting should be performed for all clinical germline (constitutional) exome and genome sequencing, including the "normal" of tumor-normal subtractive analyses in all subjects, irrespective of age but excluding fetal samples. We recognize that there are insufficient data on penetrance and clinical utility to fully support these recommendations, and we encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.

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• Genetic incidental findings: autonomy regained?

  Vayena E, Tasioulas J. Vayena E, et al. Genet Med. 2013 Nov;15(11):868-70. doi: 10.1038/gim.2013.104. Epub 2013 Aug 1. Genet Med. 2013. PMID: 23907644 Free PMC article. No abstract available.

• Response to Townsend et al.

  Korf B. Korf B. Genet Med. 2013 Sep;15(9):752-3. doi: 10.1038/gim.2013.106. Genet Med. 2013. PMID: 24008257 No abstract available.

• Genomic medicine and incidental findings: balancing actionability and patient autonomy.

  McCormick JB, Sharp RR, Farrugia G, Lindor NM, Babovic-Vuksanovic D, Borad MJ, Bryce AH, Caselli RJ, Ferber MJ, Johnson KJ, Lazaridis KN, McWilliams RR, Murray JA, Parker AS, Schahl KA, Wieben ED. McCormick JB, et al. Mayo Clin Proc. 2014 Jun;89(6):718-21. doi: 10.1016/j.mayocp.2014.04.008. Mayo Clin Proc. 2014. PMID: 24943691 No abstract available.

• 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).

  Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Klein TE, Richards CS, Stewart DR, Martin CL; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net. Miller DT, et al. Genet Med. 2022 Jul;24(7):1407-1414. doi: 10.1016/j.gim.2022.04.006. Epub 2022 Jun 17. Genet Med. 2022. PMID: 35802134 No abstract available.

• ACMG SF v3.2 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).

  Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Klein TE, Richards CS, Stewart DR, Martin CL; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net. Miller DT, et al. Genet Med. 2023 Aug;25(8):100866. doi: 10.1016/j.gim.2023.100866. Epub 2023 Jun 22. Genet Med. 2023. PMID: 37347242 Free PMC article.

• 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.

  Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT. Kalia SS, et al. Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. Genet Med. 2017. PMID: 27854360

• Recommendations for returning genomic incidental findings? We need to talk!

  Burke W, Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, Holm IA, Jarvik GP, Khoury MJ, Knoppers BM, Press NA, Ross LF, Rothstein MA, Saal H, Uhlmann WR, Wilfond B, Wolf SM, Zimmern R. Burke W, et al. Genet Med. 2013 Nov;15(11):854-9. doi: 10.1038/gim.2013.113. Epub 2013 Aug 1. Genet Med. 2013. PMID: 23907645 Free PMC article. Review.

• Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.

  Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP; Members of the CSER Actionability and Return of Results Working Group. Berg JS, et al. Genet Med. 2013 Nov;15(11):860-7. doi: 10.1038/gim.2013.133. Epub 2013 Oct 24. Genet Med. 2013. PMID: 24195999 Free PMC article. Review.

• My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings.

  Tabor HK, Jamal SM, Yu JH, Crouch JM, Shankar AG, Dent KM, Anderson N, Miller DA, Futral BT, Bamshad MJ. Tabor HK, et al. Genet Med. 2017 Apr;19(4):467-475. doi: 10.1038/gim.2016.133. Epub 2016 Sep 15. Genet Med. 2017. PMID: 27632689 Free PMC article.

• Whole-Genome and Whole-Exome Sequencing in Pediatric Oncology: An Assessment of Parent and Young Adult Patient Knowledge, Attitudes, and Expectations.

  Oberg JA, Ruiz J, Ali-Shaw T, Schlechtweg KA, Ricci A, Kung AL, Chung WK, Appelbaum PS, Glade Bender JL, Levine JM. Oberg JA, et al. JCO Precis Oncol. 2018 Mar 14;2:PO.17.00104. doi: 10.1200/PO.17.00104. eCollection 2018. JCO Precis Oncol. 2018. PMID: 32913997 Free PMC article.

• Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care.

  Miller FA, Hayeems RZ, Bytautas JP, Bedard PL, Ernst S, Hirte H, Hotte S, Oza A, Razak A, Welch S, Winquist E, Dancey J, Siu LL. Miller FA, et al. Eur J Hum Genet. 2014 Mar;22(3):391-5. doi: 10.1038/ejhg.2013.158. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860039 Free PMC article.

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