Literature DB >> 29124491

From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals.

Bianca M Augusto1, Paige Lake1, Courtney L Scherr2, Fergus J Couch3, Noralane M Lindor4, Susan T Vadaparampil5.   

Abstract

Despite ongoing research efforts to reclassify BRCA variant of uncertain significance (VUS), results for strategies to disseminate findings to genetic counselors are lacking. We disseminated results from a study on reclassification of BRCA VUS using a mailed reclassification packet including a reclassification guide, patient education aid, and patient letter template for patients/families with BRCA VUS. This study reports on genetic counselors' responses to the dissemination materials. Eligible participants (n = 1015) were identified using mailing lists from professional genetics organizations. Participants were mailed a BRCA VUS reclassification packet and a return postcard to assess responses to the materials. Closed-ended responses were analyzed using descriptive statistics, and thematic analysis was conducted on open-ended responses. In response to the mailing, 128 (13.0%) genetic counselors completed and returned postcards. The majority of respondents (n = 117; 91.4%) requested the patient letter template and patient education guides as PDFs (n = 122; 95.3%). The majority (n = 123; 96.9%) wanted an updated reclassification guide upon availability. Open-ended responses demonstrate the material was well-received; some specified they would tailor the patient letter to fit their practice and patients' needs. Participants requested additional patient and provider educational materials for use in practice. Materials communicating BRCA VUS reclassification updates were liked and were likely to be used in practice. To achieve the benefits of VUS reclassification in clinical practice, ongoing efforts are needed to continuously and effectively disseminate findings to providers and patients.

Entities:  

Keywords:  Genetic counseling; Genetic testing; Hereditary cancer; Patient education; VUS reclassification; Variant of uncertain significance (VUS)

Year:  2017        PMID: 29124491      PMCID: PMC6002306          DOI: 10.1007/s12687-017-0343-3

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


  37 in total

1.  BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.

Authors:  Noralane M Lindor; David E Goldgar; Sean V Tavtigian; Sharon E Plon; Fergus J Couch
Journal:  Oncologist       Date:  2013-04-24

2.  Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.

Authors:  Susan M Domchek; Tara M Friebel; Christian F Singer; D Gareth Evans; Henry T Lynch; Claudine Isaacs; Judy E Garber; Susan L Neuhausen; Ellen Matloff; Rosalind Eeles; Gabriella Pichert; Laura Van t'veer; Nadine Tung; Jeffrey N Weitzel; Fergus J Couch; Wendy S Rubinstein; Patricia A Ganz; Mary B Daly; Olufunmilayo I Olopade; Gail Tomlinson; Joellen Schildkraut; Joanne L Blum; Timothy R Rebbeck
Journal:  JAMA       Date:  2010-09-01       Impact factor: 56.272

Review 3.  A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Authors:  Noralane M Lindor; Lucia Guidugli; Xianshu Wang; Maxime P Vallée; Alvaro N A Monteiro; Sean Tavtigian; David E Goldgar; Fergus J Couch
Journal:  Hum Mutat       Date:  2011-11-03       Impact factor: 4.878

4.  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 5.  Hereditary breast cancer: new genetic developments, new therapeutic avenues.

Authors:  Philippe M Campeau; William D Foulkes; Marc D Tischkowitz
Journal:  Hum Genet       Date:  2008-06-25       Impact factor: 4.132

6.  Copying letters to patients with cystic fibrosis (CF): letter content and patient perceptions of benefit.

Authors:  Katherine Treacy; J Stuart Elborn; Jackie Rendall; Judy M Bradley
Journal:  J Cyst Fibros       Date:  2008-07-07       Impact factor: 5.482

7.  Australian study on public knowledge of human genetics and health.

Authors:  C Molster; T Charles; A Samanek; P O'Leary
Journal:  Public Health Genomics       Date:  2008-10-15       Impact factor: 2.000

8.  The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.

Authors:  Melanie G Pepin; Mitzi L Murray; Samuel Bailey; Dru Leistritz-Kessler; Ulrike Schwarze; Peter H Byers
Journal:  Genet Med       Date:  2015-04-02       Impact factor: 8.822

9.  Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.

Authors:  D Cragun; C Radford; J S Dolinsky; M Caldwell; E Chao; T Pal
Journal:  Clin Genet       Date:  2014-03-20       Impact factor: 4.438

10.  Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Authors:  Sharon E Plon; Diana M Eccles; Douglas Easton; William D Foulkes; Maurizio Genuardi; Marc S Greenblatt; Frans B L Hogervorst; Nicoline Hoogerbrugge; Amanda B Spurdle; Sean V Tavtigian
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

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  3 in total

1.  Current Approaches to Cancer Genetic Counseling Services for Spanish-Speaking Patients.

Authors:  Bianca Augusto; Monica L Kasting; Fergus J Couch; Noralane M Lindor; Susan T Vadaparampil
Journal:  J Immigr Minor Health       Date:  2019-04

Review 2.  Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.

Authors:  Laura Valle; Eduardo Vilar; Sean V Tavtigian; Elena M Stoffel
Journal:  J Pathol       Date:  2019-02-20       Impact factor: 7.996

Review 3.  SABCS 2017 pathology: from bench to bedside.

Authors:  Zsuzsanna Bago-Horvath
Journal:  Memo       Date:  2018-08-15
  3 in total

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