Literature DB >> 26869169

Evaluation of laboratory perspectives on hereditary cancer panels.

Jessica Stoll1, Scott M Weissman2, Nicole Hook3, Christina Selkirk4, Amy Knight Johnson5, Anna Newlin4, Kristen J Vogel Postula2.   

Abstract

Genetic counseling and testing for hereditary cancer susceptibility is a rapidly evolving field and partly a result of next-generation sequencing (NGS) allowing analysis of multiple cancer susceptibility genes simultaneously. This qualitative study explored laboratory perspectives on hereditary cancer panels. Semi-structured interviews were conducted with representatives of clinical laboratories offering hereditary cancer panels via NGS. Several themes emerged from the responses pertaining to hereditary cancer panel development, the importance of communication of panel properties with patients, variant reporting policies, and the future of hereditary cancer gene testing. Clinical utility was discussed as primary consideration during panel development. In addition, while participants indicated gene and syndrome overlap prompted panel development in general, laboratories differed in their opinions of whether phenotypic overlap warrants offering pan-cancer panels only versus cancer specific panels. Participants stressed the importance of patients understanding implications of panel testing, including what is tested for and limitations of testing. While all laboratories discussed the limitations of a variant of uncertain significance result, they differed significantly in their reporting methods. This study provides healthcare providers information on the laboratory approach to panel testing, highlighting both commonalities and differences in laboratory approaches, and may allow providers to make more informed decisions when ordering hereditary cancer panels.

Entities:  

Keywords:  Clinical laboratories; Genetic testing; Hereditary cancer panels; Hereditary cancers; Next-generation sequencing

Mesh:

Year:  2016        PMID: 26869169     DOI: 10.1007/s10689-016-9880-x

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


  36 in total

1.  The coming explosion in genetic testing--is there a duty to recontact?

Authors:  Reed E Pyeritz
Journal:  N Engl J Med       Date:  2011-10-13       Impact factor: 91.245

2.  The evolution of cancer risk assessment in the era of next generation sequencing.

Authors:  Heather Fecteau; Kristen J Vogel; Kristen Hanson; Shannon Morrill-Cornelius
Journal:  J Genet Couns       Date:  2014-04-24       Impact factor: 2.537

3.  Multiplex genetic testing for cancer susceptibility: out on the high wire without a net?

Authors:  Susan M Domchek; Angela Bradbury; Judy E Garber; Kenneth Offit; Mark E Robson
Journal:  J Clin Oncol       Date:  2013-03-04       Impact factor: 44.544

4.  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

5.  American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

Authors: 
Journal:  J Clin Oncol       Date:  2003-04-11       Impact factor: 44.544

6.  PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?

Authors:  Jessica L Mester; Rebekah A Moore; Charis Eng
Journal:  Oncologist       Date:  2013-09-13

7.  Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.

Authors:  Mary B Daly; Robert Pilarski; Jennifer E Axilbund; Saundra S Buys; Beth Crawford; Susan Friedman; Judy E Garber; Carolyn Horton; Virginia Kaklamani; Catherine Klein; Wendy Kohlmann; Allison Kurian; Jennifer Litton; Lisa Madlensky; P Kelly Marcom; Sofia D Merajver; Kenneth Offit; Tuya Pal; Boris Pasche; Gwen Reiser; Kristen Mahoney Shannon; Elizabeth Swisher; Nicoleta C Voian; Jeffrey N Weitzel; Alison Whelan; Georgia L Wiesner; Mary A Dwyer; Rashmi Kumar
Journal:  J Natl Compr Canc Netw       Date:  2014-09       Impact factor: 11.908

8.  Gene-panel sequencing and the prediction of breast-cancer risk.

Authors:  Douglas F Easton; Paul D P Pharoah; Antonis C Antoniou; Marc Tischkowitz; Sean V Tavtigian; Katherine L Nathanson; Peter Devilee; Alfons Meindl; Fergus J Couch; Melissa Southey; David E Goldgar; D Gareth R Evans; Georgia Chenevix-Trench; Nazneen Rahman; Mark Robson; Susan M Domchek; William D Foulkes
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

9.  Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research.

Authors:  Rebecca C Fitzgerald; Richard Hardwick; David Huntsman; Fatima Carneiro; Parry Guilford; Vanessa Blair; Daniel C Chung; Jeff Norton; Krishnadath Ragunath; J Han Van Krieken; Sarah Dwerryhouse; Carlos Caldas
Journal:  J Med Genet       Date:  2010-07       Impact factor: 6.318

10.  Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

Authors:  Holly LaDuca; A J Stuenkel; Jill S Dolinsky; Steven Keiles; Stephany Tandy; Tina Pesaran; Elaine Chen; Chia-Ling Gau; Erika Palmaer; Kamelia Shoaepour; Divya Shah; Virginia Speare; Stephanie Gandomi; Elizabeth Chao
Journal:  Genet Med       Date:  2014-04-24       Impact factor: 8.822

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  2 in total

1.  Expanding the spectrum of germline variants in cancer.

Authors:  Abdul K Siraj; Tariq Masoodi; Rong Bu; Sandeep Kumar Parvathareddy; Ismail A Al-Badawi; Nasser Al-Sanea; Luai H Ashari; Alaa Abduljabbar; Samar Alhomoud; Saif S Al-Sobhi; Asma Tulbah; Dahish Ajarim; Khalid Alzoman; Muna Aljuboury; Hussam Bin Yousef; Mohammed Al-Dawish; Fouad Al-Dayel; Fowzan S Alkuraya; Khawla S Al-Kuraya
Journal:  Hum Genet       Date:  2017-10-03       Impact factor: 4.132

2.  A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Authors:  Carolina Velázquez; Enrique Lastra; Francisco Avila Cobos; Luis Abella; Virginia de la Cruz; Blanca Ascensión Hernando; Lara Hernández; Noemí Martínez; Mar Infante; Mercedes Durán
Journal:  J Transl Med       Date:  2020-06-10       Impact factor: 5.531

  2 in total

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