Literature DB >> 25356965

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

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Abstract

DISCLAIMER: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers to help them provide quality medical genetics services. Adherence to these recommendations does not necessarily ensure a successful medical outcome. These recommendations 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, geneticists and other clinicians should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these recommendations.

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Year:  2014        PMID: 25356965     DOI: 10.1038/gim.2014.151

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  2 in total

1.  Anticipate and communicate: Ethical management of incidental and secondary findings in the clinical, research, and direct-to-consumer contexts (December 2013 report of the Presidential Commission for the Study of Bioethical Issues).

Authors:  Christine Weiner
Journal:  Am J Epidemiol       Date:  2014-08-22       Impact factor: 4.897

2.  Reporting genomic secondary findings: ACMG members weigh in.

Authors:  Maren T Scheuner; Jane Peredo; Judith Benkendorf; Bruce Bowdish; Gerald Feldman; Lynn Fleisher; John J Mulvihill; Michael Watson; Gail E Herman; James Evans
Journal:  Genet Med       Date:  2014-11-13       Impact factor: 8.822

  2 in total
  125 in total

1.  Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the "Benefit to Families".

Authors:  Benjamin S Wilfond; Conrad V Fernandez; Robert C Green
Journal:  J Law Med Ethics       Date:  2015       Impact factor: 1.718

2.  Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations.

Authors:  Susan M Wolf; Rebecca Branum; Barbara A Koenig; Gloria M Petersen; Susan A Berry; Laura M Beskow; Mary B Daly; Conrad V Fernandez; Robert C Green; Bonnie S LeRoy; Noralane M Lindor; P Pearl O'Rourke; Carmen Radecki Breitkopf; Mark A Rothstein; Brian Van Ness; Benjamin S Wilfond
Journal:  J Law Med Ethics       Date:  2015       Impact factor: 1.718

Review 3.  Return of genetic testing results in the era of whole-genome sequencing.

Authors:  Bartha Maria Knoppers; Ma'n H Zawati; Karine Sénécal
Journal:  Nat Rev Genet       Date:  2015-08-04       Impact factor: 53.242

Review 4.  Next Generation Sequencing in the Clinic.

Authors:  Ratna Dua Puri
Journal:  Indian J Pediatr       Date:  2016-02-13       Impact factor: 1.967

5.  Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again.

Authors:  Michael J Szego; Ma'n H Zawati
Journal:  J Can Acad Child Adolesc Psychiatry       Date:  2016-05-01

Review 6.  Getting personal: Head and neck cancer management in the era of genomic medicine.

Authors:  Andrew C Birkeland; Wendy R Uhlmann; J Chad Brenner; Andrew G Shuman
Journal:  Head Neck       Date:  2015-08-13       Impact factor: 3.147

7.  Will New Genetic Techniques Like Exome Sequencing Obviate the Need for Clinical Expertise? No.

Authors:  Kapil D Sethi; Anthony E Lang
Journal:  Mov Disord Clin Pract       Date:  2016-10-17

8.  "Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing.

Authors:  Ashley N Tomlinson; Debra Skinner; Denise L Perry; Sarah R Scollon; Myra I Roche; Barbara A Bernhardt
Journal:  J Genet Couns       Date:  2015-04-26       Impact factor: 2.537

9.  The Influence of Adolescence on Parents' Perspectives of Testing and Discussing Inherited Cancer Predisposition.

Authors:  Corinna L Schultz; Melissa A Alderfer; Robert B Lindell; Zachary McClain; Kristin Zelley; Kim E Nichols; Carol A Ford
Journal:  J Genet Couns       Date:  2018-06-16       Impact factor: 2.537

10.  Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

Authors:  Amelie T van der Ven; Dervla M Connaughton; Hadas Ityel; Nina Mann; Makiko Nakayama; Jing Chen; Asaf Vivante; Daw-Yang Hwang; Julian Schulz; Daniela A Braun; Johanna Magdalena Schmidt; David Schapiro; Ronen Schneider; Jillian K Warejko; Ankana Daga; Amar J Majmundar; Weizhen Tan; Tilman Jobst-Schwan; Tobias Hermle; Eugen Widmeier; Shazia Ashraf; Ali Amar; Charlotte A Hoogstraaten; Hannah Hugo; Thomas M Kitzler; Franziska Kause; Caroline M Kolvenbach; Rufeng Dai; Leslie Spaneas; Kassaundra Amann; Deborah R Stein; Michelle A Baum; Michael J G Somers; Nancy M Rodig; Michael A Ferguson; Avram Z Traum; Ghaleb H Daouk; Radovan Bogdanović; Natasa Stajić; Neveen A Soliman; Jameela A Kari; Sherif El Desoky; Hanan M Fathy; Danko Milosevic; Muna Al-Saffar; Hazem S Awad; Loai A Eid; Aravind Selvin; Prabha Senguttuvan; Simone Sanna-Cherchi; Heidi L Rehm; Daniel G MacArthur; Monkol Lek; Kristen M Laricchia; Michael W Wilson; Shrikant M Mane; Richard P Lifton; Richard S Lee; Stuart B Bauer; Weining Lu; Heiko M Reutter; Velibor Tasic; Shirlee Shril; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2018-08-24       Impact factor: 10.121

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