Literature DB >> 30821867

Secondary findings: How did we get here, and where are we going?

Kelly E Ormond1, Julianne M O'Daniel2, Sarah S Kalia3,4.   

Abstract

The American College of Medical Genetics and Genomics (ACMG) recommendations for reporting of incidental (now "secondary") findings in clinical exome and genome sequencing (Green et al., Genet Med 15:565, 2013) is an often cited and sometimes misapplied professional guideline. To best approach the current state of secondary findings (SFs) in genomic medicine, and consider their impact, it is helpful to understand how and why the guideline was created. Of particular importance is the context - the state of the science and clinical practice during 2011-2012 when the guideline were initially developed. This paper will review the setting before the guidelines were published, and empiric research and discussion that has occurred since.
© 2019 National Society of Genetic Counselors.

Keywords:  autonomy; children; ethics; genetic counseling; guidelines; incidental findings; secondary findings

Mesh:

Year:  2019        PMID: 30821867     DOI: 10.1002/jgc4.1098

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  10 in total

1.  Attitudes among South African university staff and students towards disclosing secondary genetic findings.

Authors:  Georgina Spies; Jolynne Mokaya; Jacqui Steadman; Nicole Schuitmaker; Martin Kidd; S M J Hemmings; Jonathan A Carr; Helena Kuivaniemi; Soraya Seedat
Journal:  J Community Genet       Date:  2020-11-20

2.  Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.

Authors:  Zoë P Mackay; Dmitry Dukhovny; Kathryn A Phillips; Alan H Beggs; Robert C Green; Richard B Parad; Kurt D Christensen
Journal:  Value Health       Date:  2020-03-20       Impact factor: 5.725

3.  'We Should View Him as an Individual': The Role of the Child's Future Autonomy in Shared Decision-Making About Unsolicited Findings in Pediatric Exome Sequencing.

Authors:  W Dondorp; I Bolt; A Tibben; G De Wert; M Van Summeren
Journal:  Health Care Anal       Date:  2021-01-02

4.  A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.

Authors:  Julie C Sapp; Flavia M Facio; Diane Cooper; Katie L Lewis; Emily Modlin; Philip van der Wees; Leslie G Biesecker
Journal:  Genet Med       Date:  2021-08-26       Impact factor: 8.864

Review 5.  A pediatric perspective on genomics and prevention in the twenty-first century.

Authors:  Bimal P Chaudhari; Kandamurugu Manickam; Kim L McBride
Journal:  Pediatr Res       Date:  2019-10-02       Impact factor: 3.756

Review 6.  Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders.

Authors:  Julie A McGlynn; Elinor Langfelder-Schwind
Journal:  Cold Spring Harb Perspect Med       Date:  2020-10-01       Impact factor: 5.159

Review 7.  Informed Consent in the Genomics Era.

Authors:  Shannon Rego; Megan E Grove; Mildred K Cho; Kelly E Ormond
Journal:  Cold Spring Harb Perspect Med       Date:  2020-08-03       Impact factor: 5.159

8.  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

9.  Reporting Genetic Findings to Individual Research Participants: Guidelines From the Swiss Personalized Health Network.

Authors:  Alessandro Blasimme; Caroline Brall; Effy Vayena
Journal:  Front Genet       Date:  2020-12-11       Impact factor: 4.599

10.  All Patients With Common Variable Immunodeficiency Disorders (CVID) Should Be Routinely Offered Diagnostic Genetic Testing.

Authors:  Rohan Ameratunga; Klaus Lehnert; See-Tarn Woon
Journal:  Front Immunol       Date:  2019-11-22       Impact factor: 7.561

  10 in total

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