Literature DB >> 29721668

Physician interpretation of variants of uncertain significance.

Sarah K Macklin1, Jessica L Jackson2, Paldeep S Atwal2, Stephanie L Hines3.   

Abstract

A growing number of physicians will interact with genetic test results as testing becomes more commonplace. While variants of uncertain significance can complicate results, it is equally important that physicians understand how to incorporate these results into clinical care. An online survey was created to assess physician self-reported comfort level with genetics and variants of uncertain significance. Physicians were asked to respond to three case examples involving genetic test results. The survey was sent to 488 physicians at Mayo Clinic FL on 8/16/2017. Physicians from all specialties were invited to participate. A total of 92 physicians responded to the survey. Only 13/84 (14.6%) responded to all three case examples with the answer deemed "most correct" by review of literature. Physicians that specialized in cancer were more likely to answer questions appropriately (P = .02). Around half (39/84) of the physicians incorrectly defined a variant of uncertain significance (VUS). Over 75% made a recommendation for genetic testing that was not warranted. Many physicians have never received formal genetics training; however, they will be expected to provide an accurate explanation of the genetic test results and subsequent evidence-based medical management recommendations. These results demonstrate that a substantial proportion of physicians lack a true understanding of the implications a VUS. Utilization of supplemental genetics training programs coupled with increase awareness of genetic services may help to improve patient care.

Entities:  

Keywords:  Cancer surveillance; Genetics; Variant of uncertain significance

Mesh:

Year:  2019        PMID: 29721668     DOI: 10.1007/s10689-018-0086-2

Source DB:  PubMed          Journal:  Fam Cancer        ISSN: 1389-9600            Impact factor:   2.375


  30 in total

1.  The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life.

Authors:  Joël Vos; Wilma Otten; Christi van Asperen; Anna Jansen; Fred Menko; Aad Tibben
Journal:  Psychooncology       Date:  2008-08       Impact factor: 3.894

Review 2.  BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.

Authors:  D M Eccles; G Mitchell; A N A Monteiro; R Schmutzler; F J Couch; A B Spurdle; E B Gómez-García
Journal:  Ann Oncol       Date:  2015-07-07       Impact factor: 32.976

3.  Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors.

Authors:  Bronson D Riley; Julie O Culver; Cécile Skrzynia; Leigha A Senter; June A Peters; Josephine W Costalas; Faith Callif-Daley; Sherry C Grumet; Katherine S Hunt; Rebecca S Nagy; Wendy C McKinnon; Nancie M Petrucelli; Robin L Bennett; Angela M Trepanier
Journal:  J Genet Couns       Date:  2011-12-02       Impact factor: 2.537

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.  Annual surveillance by CA125 and transvaginal ultrasound for ovarian cancer in both high-risk and population risk women is ineffective.

Authors:  E R Woodward; H V Sleightholme; A M Considine; S Williamson; J M McHugo; D G Cruger
Journal:  BJOG       Date:  2007-09-27       Impact factor: 6.531

6.  BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

Authors:  Michael J Hall; Julia E Reid; Lynn A Burbidge; Dmitry Pruss; Amie M Deffenbaugh; Cynthia Frye; Richard J Wenstrup; Brian E Ward; Thomas A Scholl; Walter W Noll
Journal:  Cancer       Date:  2009-05-15       Impact factor: 6.860

7.  Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling.

Authors:  S Richter; I Haroun; T C Graham; A Eisen; A Kiss; E Warner
Journal:  Ann Oncol       Date:  2013-11       Impact factor: 32.976

8.  Physicians' experiences with BRCA1/2 testing in community settings.

Authors:  Nancy L Keating; Kathryn A Stoeckert; Meredith M Regan; Lisa DiGianni; Judy E Garber
Journal:  J Clin Oncol       Date:  2008-11-10       Impact factor: 44.544

9.  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

10.  How well do doctors think they perform on the General Medical Council's Tests of Competence pilot examinations? A cross-sectional study.

Authors:  Leila Mehdizadeh; Alison Sturrock; Gil Myers; Yasmin Khatib; Jane Dacre
Journal:  BMJ Open       Date:  2014-02-06       Impact factor: 2.692

View more
  13 in total

1.  Using a Genomics Taxonomy: Facilitating Patient Care Safety and Quality in the Era of Precision Oncology.

Authors:  Patricia Friend; Erin Dickman; Kathleen Calzone
Journal:  Clin J Oncol Nurs       Date:  2021-04-01       Impact factor: 1.027

2.  Timely cancer genetic counseling and testing for young women with breast cancer: impact on surgical decision-making for contralateral risk-reducing mastectomy.

Authors:  Shenin A Dettwyler; Darcy L Thull; Priscilla F McAuliffe; Jennifer G Steiman; Ronald R Johnson; Emilia J Diego; Phuong L Mai
Journal:  Breast Cancer Res Treat       Date:  2022-05-21       Impact factor: 4.872

3.  Strategies to enhance identification of hereditary breast cancer gene carriers.

Authors:  Sonya Reid; Lucy B Spalluto; Tuya Pal
Journal:  Expert Rev Mol Diagn       Date:  2020-09-11       Impact factor: 5.225

4.  Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta-analysis.

Authors:  Sukh Makhnoon; Erica M Bednar; Kate J Krause; Susan K Peterson; Maria A Lopez-Olivo
Journal:  Clin Genet       Date:  2021-04-21       Impact factor: 4.438

5.  Patient perspectives on variant reclassification after cancer susceptibility testing.

Authors:  Colin M E Halverson; Laurie M Connors; Bronson C Wessinger; Ellen W Clayton; Georgia L Wiesner
Journal:  Mol Genet Genomic Med       Date:  2020-04-24       Impact factor: 2.183

6.  Preferences of women with epithelial ovarian cancer for aspects of genetic testing.

Authors:  Brittany A Davidson; Jessie Ehrisman; Shelby D Reed; Jui-Chen Yang; Adam Buchanan; Laura J Havrilesky
Journal:  Gynecol Oncol Res Pract       Date:  2019-01-22

7.  The infantile neuroaxonal dystrophy rating scale (INAD-RS).

Authors:  Paldeep S Atwal; Mark Midei; Darius Adams; Alexander Fay; Frederic Heerinckx; Peter Milner
Journal:  Orphanet J Rare Dis       Date:  2020-07-29       Impact factor: 4.123

8.  Perceptions of provider's epistemic authority in response to variant of uncertain significance-related recommendations.

Authors:  Sukh Makhnoon; Maureen Mork; Banu Arun; Robert J Volk; Susan K Peterson
Journal:  J Genet Couns       Date:  2020-10-08       Impact factor: 2.537

9.  Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Authors:  Oscar Campuzano; Georgia Sarquella-Brugada; Anna Fernandez-Falgueras; Mónica Coll; Anna Iglesias; Carles Ferrer-Costa; Sergi Cesar; Elena Arbelo; Ana García-Álvarez; Paloma Jordà; Rocío Toro; Coloma Tiron de Llano; Simone Grassi; Antonio Oliva; Josep Brugada; Ramon Brugada
Journal:  EBioMedicine       Date:  2020-04-05       Impact factor: 8.143

10.  Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences.

Authors:  Kristin E Clift; Sarah K Macklin; Stephanie L Hines
Journal:  Hered Cancer Clin Pract       Date:  2019-12-16       Impact factor: 2.857

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.