title: Evaluation of laboratory perspectives on hereditary cancer panels.
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.
authors: Department of Medicine, University of Chicago Medicine, 5841 S. Maryland Ave, MC4076, Chicago, IL, 60637, USA. jstoll2@medicine.bsd.uchicago.edu.
authors: Jessica
authors: J
authors: Stoll
authors: GeneDx, Gaithersburg, MD, USA.
authors: Scott M
authors: SM
authors: Weissman
authors: Natera, Inc., San Carlos, CA, USA.
authors: Nicole
authors: N
authors: Hook
authors: Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA.
authors: Christina
authors: C
authors: Selkirk
authors: Department of Medicine, University of Chicago Medicine, 5841 S. Maryland Ave, MC4076, Chicago, IL, 60637, USA.
authors: Amy Knight
authors: AK
authors: Johnson
authors: Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA.
authors: Anna
authors: A
authors: Newlin
authors: GeneDx, Gaithersburg, MD, USA.
authors: Kristen J
authors: KJ
authors: Vogel Postula
mesh_terms: D000328:Adult; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007753:Laboratories; D008297:Male; D008875:Middle Aged; D009369:Neoplasms / Q000235:genetics*
keywords: Clinical laboratories; Genetic testing; Hereditary cancer panels; Hereditary cancers; Next-generation sequencing