Literature DB >> 29970927

Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate.

Marlies Saelaert1, Heidi Mertes2, Elfride De Baere3, Ignaas Devisch4.   

Abstract

Incidental or secondary findings (ISFs) in whole exome or whole genome sequencing have been widely debated in recent literature. The American College of Medical Genetics and Genomics' recommendations on diagnostic ISFs have strongly catalyzed the discussion, resulting in worldwide reactions and a variety of international guidelines. This article will outline how propositions on levels of terminology, policy, and underlying values are still internationally criticized and adjusted. Unsolved questions regarding ISFs include a suitable terminology, adequate counseling or informed consent procedures, opt-out possibilities, reporting ISFs to (parents of) minors and values regarding professional duty, patient autonomy, and actionability. These questions will be characterized as intrinsically related and reciprocally maintained and hence, symptomatic, single-level reflections will be marked as ineffective. Instead, a level-integrative approach of the debate that explicitly acknowledges this interaction and considers a balance between internationally significant and case-specific solutions, will be advocated. Second, the inclusion of a patient perspective will be strongly encouraged to complement the professional preponderance in the current debate. The examination of lived patient experiences, a qualitative focus on the subjective meaning of ISFs, and a contextualization of meaning processes will be suggested as specific concretizations. This integrative and inclusive approach aims for a more comprehensive understanding of ISFs, a consideration of all relevant stakeholders' perspective and, ultimately, an effective health-care policy.

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Mesh:

Year:  2018        PMID: 29970927      PMCID: PMC6138744          DOI: 10.1038/s41431-018-0200-9

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  51 in total

1.  Mandatory extended searches in all genome sequencing: "incidental findings," patient autonomy, and shared decision making.

Authors:  Lainie Friedman Ross; Mark A Rothstein; Ellen Wright Clayton
Journal:  JAMA       Date:  2013-07-24       Impact factor: 56.272

2.  Secondary variants--in defense of a more fitting term in the incidental findings debate.

Authors:  Gabrielle M Christenhusz; Koenraad Devriendt; Kris Dierickx
Journal:  Eur J Hum Genet       Date:  2013-05-22       Impact factor: 4.246

3.  Compare and contrast: a cross-national study across UK, USA and Greek experts regarding return of incidental findings from clinical sequencing.

Authors:  Elli G Gourna; Natalie Armstrong; Susan E Wallace
Journal:  Eur J Hum Genet       Date:  2015-06-10       Impact factor: 4.246

4.  Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel.

Authors:  Danya F Vears; Karine Sénécal; Pascal Borry
Journal:  Hum Mutat       Date:  2017-06-06       Impact factor: 4.878

5.  Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs.

Authors:  L Krabbenborg; J Schieving; T Kleefstra; L E L M Vissers; M A Willemsen; J A Veltman; S van der Burg
Journal:  Clin Genet       Date:  2015-05-21       Impact factor: 4.438

6.  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.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

7.  Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility.

Authors:  Angela R Bradbury; Linda Patrick-Miller; Jessica Long; Jacquelyn Powers; Jill Stopfer; Andrea Forman; Christina Rybak; Kristin Mattie; Amanda Brandt; Rachelle Chambers; Wendy K Chung; Jane Churpek; Mary B Daly; Laura Digiovanni; Dana Farengo-Clark; Dominique Fetzer; Pamela Ganschow; Generosa Grana; Cassandra Gulden; Michael Hall; Lynne Kohler; Kara Maxwell; Shana Merrill; Susan Montgomery; Rebecca Mueller; Sarah Nielsen; Olufunmilayo Olopade; Kimberly Rainey; Christina Seelaus; Katherine L Nathanson; Susan M Domchek
Journal:  Genet Med       Date:  2014-10-09       Impact factor: 8.822

8.  Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland).

Authors:  Anna Middleton; Chris Patch; Jennifer Wiggins; Kathy Barnes; Gill Crawford; Caroline Benjamin; Anita Bruce
Journal:  Eur J Hum Genet       Date:  2014-01-08       Impact factor: 4.246

9.  Incidental findings in clinical genomics: a clarification.

Authors: 
Journal:  Genet Med       Date:  2013-07-04       Impact factor: 8.822

10.  Guidelines for diagnostic next-generation sequencing.

Authors:  Gert Matthijs; Erika Souche; Mariëlle Alders; Anniek Corveleyn; Sebastian Eck; Ilse Feenstra; Valérie Race; Erik Sistermans; Marc Sturm; Marjan Weiss; Helger Yntema; Egbert Bakker; Hans Scheffer; Peter Bauer
Journal:  Eur J Hum Genet       Date:  2015-10-28       Impact factor: 4.246

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  9 in total

1.  Experiences and lessons learned by genetic counselors in returning secondary genetic findings to patients.

Authors:  Carly Rost; Karin M Dent; Jeffrey Botkin; Erin Rothwell
Journal:  J Genet Couns       Date:  2020-05-26       Impact factor: 2.537

Review 2.  Discouraging Elective Genetic Testing of Minors: A Norm under Siege in a New Era of Genomic Medicine.

Authors:  Laura Hercher
Journal:  Cold Spring Harb Perspect Med       Date:  2020-05-01       Impact factor: 6.915

3.  Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres.

Authors:  Marlies Saelaert; Heidi Mertes; Tania Moerenhout; Elfride De Baere; Ignaas Devisch
Journal:  BMC Med Genomics       Date:  2019-08-20       Impact factor: 3.063

Review 4.  Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.

Authors:  Aideen M McInerney-Leo; Emma L Duncan
Journal:  Front Endocrinol (Lausanne)       Date:  2021-02-19       Impact factor: 5.555

5.  Ethical Principles, Constraints and Opportunities in Clinical Proteomics.

Authors:  Sebastian Porsdam Mann; Peter V Treit; Philipp E Geyer; Gilbert S Omenn; Matthias Mann
Journal:  Mol Cell Proteomics       Date:  2021-01-14       Impact factor: 5.911

6.  Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.

Authors:  Olivia V Poole; Chiara Pizzamiglio; David Murphy; Micol Falabella; William L Macken; Enrico Bugiardini; Cathy E Woodward; Robyn Labrum; Stephanie Efthymiou; Vincenzo Salpietro; Viorica Chelban; Rauan Kaiyrzhanov; Reza Maroofian; Anthony A Amato; Allison Gregory; Susan J Hayflick; Hallgeir Jonvik; Nicholas Wood; Henry Houlden; Jana Vandrovcova; Michael G Hanna; Alan Pittman; Robert D S Pitceathly
Journal:  Ann Neurol       Date:  2021-04-01       Impact factor: 11.274

7.  It is not a big deal: a qualitative study of clinical biobank donation experience and motives.

Authors:  Natalia Antonova; Ksenia Eritsyan
Journal:  BMC Med Ethics       Date:  2022-01-29       Impact factor: 2.652

8.  A systematic approach to the disclosure of genomic findings in clinical practice and research: a proposed framework with colored matrix and decision-making pathways.

Authors:  Kenji Matsui; Keiichiro Yamamoto; Shimon Tashiro; Tomohide Ibuki
Journal:  BMC Med Ethics       Date:  2021-12-25       Impact factor: 2.652

9.  Systematic Review of the Economic Evaluation of Returning Incidental Findings in Genomic Research.

Authors:  Mayara Fontes Marx; John E Ataguba; Jantina de Vries; Ambroise Wonkam
Journal:  Front Public Health       Date:  2021-07-01
  9 in total

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