Literature DB >> 31432391

Patients' views on variants of uncertain significance across indications.

Kristin Clift1, Sarah Macklin2, Colin Halverson3, Jennifer B McCormick4, Abd Moain Abu Dabrh5, Stephanie Hines6.   

Abstract

As genomic sequencing expands into more areas of patient care, an increasing number of patients learn of the variants of uncertain significance (VUSs) that they carry. Understanding the potential psychosocial consequences of the disclosure of a VUS can help inform pre- and post-test counseling discussions. Medical uncertainty in general elicits a variety of responses from patients, particularly in the growing field of medical genetics and genomics. It is important to consider patients' responses to the ambiguous nature of VUSs across different indications and situational contexts. Genetic counselors and other providers ordering genetic testing should be prepared for the possibility of their patients' misinterpretation of such results. Pre-test counseling should include a discussion of the possibility of VUSs and what it would mean for the patient's care and its potential psychosocial impacts. When a VUS is found, post-test counseling should include additional education and a discussion of the variant's implications and medical management recommendations based on the results. These discussions may help temper subjective interpretations, unrealistic views, and decisional regret.

Entities:  

Keywords:  Affective response; Genetic counseling; Qualitative research; Uncertainty; Variants of uncertain or unknown significance (VUS)

Year:  2019        PMID: 31432391      PMCID: PMC7062975          DOI: 10.1007/s12687-019-00434-7

Source DB:  PubMed          Journal:  J Community Genet        ISSN: 1868-310X


  39 in total

1.  Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age.

Authors:  K A Kaphingst; J Ivanovich; B B Biesecker; R Dresser; J Seo; L G Dressler; P J Goodfellow; M S Goodman
Journal:  Clin Genet       Date:  2015-05-05       Impact factor: 4.438

2.  Patients' perspectives of variants of uncertain significance and strategies for uncertainty management.

Authors:  Sukh Makhnoon; Brian H Shirts; Deborah J Bowen
Journal:  J Genet Couns       Date:  2019-01-12       Impact factor: 2.537

3.  Gratitude, protective buffering, and cognitive dissonance: How families respond to pediatric whole exome sequencing in the absence of actionable results.

Authors:  Allison Werner-Lin; Lori Zaspel; Mae Carlson; Rebecca Mueller; Sarah A Walser; Ria Desai; Barbara A Bernhardt
Journal:  Am J Med Genet A       Date:  2018-03       Impact factor: 2.802

4.  Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance.

Authors:  Ilana Solomon; Elizabeth Harrington; Gillian Hooker; Lori Erby; Jennifer Axilbund; Heather Hampel; Kara Semotiuk; Amie Blanco; William M P Klein; Francis Giardiello; Lori Leonard
Journal:  J Genet Couns       Date:  2017-01-26       Impact factor: 2.537

5.  ClinGen--the Clinical Genome Resource.

Authors:  Heidi L Rehm; Jonathan S Berg; Lisa D Brooks; Carlos D Bustamante; James P Evans; Melissa J Landrum; David H Ledbetter; Donna R Maglott; Christa Lese Martin; Robert L Nussbaum; Sharon E Plon; Erin M Ramos; Stephen T Sherry; Michael S Watson
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

6.  Distress among women receiving uninformative BRCA1/2 results: 12-month outcomes.

Authors:  Suzanne C O'Neill; Christine Rini; Rachel E Goldsmith; Heiddis Valdimarsdottir; Lawrence H Cohen; Marc D Schwartz
Journal:  Psychooncology       Date:  2009-10       Impact factor: 3.894

Review 7.  Shared Decision Making: The Need For Patient-Clinician Conversation, Not Just Information.

Authors:  Ian Hargraves; Annie LeBlanc; Nilay D Shah; Victor M Montori
Journal:  Health Aff (Millwood)       Date:  2016-04       Impact factor: 6.301

8.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

9.  Known unknowns: building an ethics of uncertainty into genomic medicine.

Authors:  Ainsley J Newson; Samantha J Leonard; Alison Hall; Clara L Gaff
Journal:  BMC Med Genomics       Date:  2016-09-01       Impact factor: 3.063

10.  A taxonomy of medical uncertainties in clinical genome sequencing.

Authors:  Paul K J Han; Kendall L Umstead; Barbara A Bernhardt; Robert C Green; Steven Joffe; Barbara Koenig; Ian Krantz; Leo B Waterston; Leslie G Biesecker; Barbara B Biesecker
Journal:  Genet Med       Date:  2017-01-19       Impact factor: 8.822

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  17 in total

1.  Implementation matters: How patient experiences differ when genetic counseling accompanies the return of genetic variants of uncertain significance.

Authors:  Harsh V Patel; Nora B Henrikson; James D Ralston; Kathleen Leppig; Aaron Scrol; Gail P Jarvik; Shannon DeVange; Eric B Larson; Andrea L Hartzler
Journal:  AMIA Annu Symp Proc       Date:  2022-02-21

2.  2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Authors:  Martin K Stiles; Arthur A M Wilde; Dominic J Abrams; Michael J Ackerman; Christine M Albert; Elijah R Behr; Sumeet S Chugh; Martina C Cornel; Karen Gardner; Jodie Ingles; Cynthia A James; Jyh-Ming Jimmy Juang; Stefan Kääb; Elizabeth S Kaufman; Andrew D Krahn; Steven A Lubitz; Heather MacLeod; Carlos A Morillo; Koonlawee Nademanee; Vincent Probst; Elizabeth V Saarel; Luciana Sacilotto; Christopher Semsarian; Mary N Sheppard; Wataru Shimizu; Jonathan R Skinner; Jacob Tfelt-Hansen; Dao Wu Wang
Journal:  Heart Rhythm       Date:  2020-10-19       Impact factor: 6.343

3.  2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Authors:  Martin K Stiles; Arthur A M Wilde; Dominic J Abrams; Michael J Ackerman; Christine M Albert; Elijah R Behr; Sumeet S Chugh; Martina C Cornel; Karen Gardner; Jodie Ingles; Cynthia A James; Jyh-Ming Jimmy Juang; Stefan Kääb; Elizabeth S Kaufman; Andrew D Krahn; Steven A Lubitz; Heather MacLeod; Carlos A Morillo; Koonlawee Nademanee; Vincent Probst; Elizabeth V Saarel; Luciana Sacilotto; Christopher Semsarian; Mary N Sheppard; Wataru Shimizu; Jonathan R Skinner; Jacob Tfelt-Hansen; Dao Wu Wang
Journal:  J Arrhythm       Date:  2021-04-08

4.  Hope versus reality: Parent expectations of genomic testing.

Authors:  Katherine E Donohue; Siobhan M Dolan; Dana Watnick; Katie M Gallagher; Jacqueline A Odgis; Sabrina A Suckiel; Nehama Teitelman; Bruce D Gelb; Eimear E Kenny; Melissa P Wasserstein; Carol R Horowitz; Laurie J Bauman
Journal:  Patient Educ Couns       Date:  2021-01-29

5.  Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition.

Authors:  Holm H Uhlig; Fabienne Charbit-Henrion; Daniel Kotlarz; Dror S Shouval; Tobias Schwerd; Caterina Strisciuglio; Lissy de Ridder; Johan van Limbergen; Marina Macchi; Scott B Snapper; Frank M Ruemmele; David C Wilson; Simon P L Travis; Anne M Griffiths; Dan Turner; Christoph Klein; Aleixo M Muise; Richard K Russell
Journal:  J Pediatr Gastroenterol Nutr       Date:  2021-03-01       Impact factor: 3.288

6.  Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel.

Authors:  Vincenza Precone; Rossella Cannarella; Stefano Paolacci; Gian Maria Busetto; Tommaso Beccari; Liborio Stuppia; Gerolamo Tonini; Alessandra Zulian; Giuseppe Marceddu; Aldo E Calogero; Matteo Bertelli
Journal:  Front Endocrinol (Lausanne)       Date:  2021-01-26       Impact factor: 5.555

7.  "Is that something that should concern me?": a qualitative exploration of parent understanding of their child's genomic test results.

Authors:  Dana Watnick; Jacqueline A Odgis; Sabrina A Suckiel; Katie M Gallagher; Nehama Teitelman; Katherine E Donohue; Bruce D Gelb; Eimear E Kenny; Melissa P Wasserstein; Carol R Horowitz; Siobhan M Dolan; Laurie J Bauman
Journal:  HGG Adv       Date:  2021-02-03

8.  Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions.

Authors:  Dana B Gal; Ana Morales; Susan Rojahn; Tom Callis; John Garcia; James R Priest; Rebecca Truty; Matteo Vatta; Robert L Nussbaum; Edward D Esplin; Seth A Hollander
Journal:  Pediatr Cardiol       Date:  2021-10-29       Impact factor: 1.655

Review 9.  The Feasibility of Implementing Mainstream Germline Genetic Testing in Routine Cancer Care-A Systematic Review.

Authors:  Kyra Bokkers; Michiel Vlaming; Ellen G Engelhardt; Ronald P Zweemer; Inge M van Oort; Lambertus A L M Kiemeney; Eveline M A Bleiker; Margreet G E M Ausems
Journal:  Cancers (Basel)       Date:  2022-02-19       Impact factor: 6.639

10.  Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience.

Authors:  Hailong Huang; Meiying Cai; Linyu Liu; Liangpu Xu; Na Lin
Journal:  Int J Gen Med       Date:  2021-05-21
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