title: Challenges to clinical utilization of hereditary cancer gene panel testing: perspectives from the front lines.
abstract: Next generation sequencing (NGS) technology is rapidly being implemented into clinical practice. Qualitative research was performed to gain an improved understanding of the landscape surrounding the use of NGS in cancer genetics. A focus group was conducted at the Wisconsin Cancer Risk Programs Network biannual meeting. Free flowing discussion with occasional open-ended questions provided insights into the use of NGS. 19 genetic counselors and medical professionals participated. Three major themes were identified with respect to NGS and its use in cancer genetics: knowledge gaps, the evolving clinician role, and uncertain utility. Several corresponding subthemes were identified. With respect to knowledge gaps, participants expressed concern regarding unexpected results and variants of unknown significance, lack of data about NGS findings, absence of standardization regarding use of NGS and guidelines for interpretation, and discomfort with new technology. Regarding the evolving clinician role, necessary changes to the roles of genetic counselors and physicians were noted, as was the resultant impact on care received by patients and their families. Finally, the clinical and economic utility of NGS was questioned. While a shift from traditional Sanger sequencing to NGS is occurring in molecular genetic testing for disease susceptibility, there are several obstacles that need to be overcome before widespread adoption of this technology can occur. Furthermore, key aspects of NGS and it utility remain unexplored. Continued investigation into these subjects is necessary before this technology will consistently be of benefit to patients and their families.
authors.affiliation: Division of Surgical Oncology, Department of Surgery, Froedtert and The Medical College of Wisconsin, 9200 West Wisconsin Avenue, Milwaukee, WI, 53226, USA.
authors.forename: Rebecca K
authors.initials: RK
authors.lastname: Marcus
authors.affiliation: Division of Surgical Oncology, Department of Surgery, Froedtert and The Medical College of Wisconsin, 9200 West Wisconsin Avenue, Milwaukee, WI, 53226, USA.|Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Geurts
authors.affiliation: Division of Surgical Oncology, Department of Surgery, Froedtert and The Medical College of Wisconsin, 9200 West Wisconsin Avenue, Milwaukee, WI, 53226, USA.|Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.
authors.forename: Jessica A
authors.initials: JA
authors.lastname: Grzybowski
authors.affiliation: Division of Surgical Oncology, Department of Surgery, Froedtert and The Medical College of Wisconsin, 9200 West Wisconsin Avenue, Milwaukee, WI, 53226, USA.
authors.forename: Kiran K
authors.initials: KK
authors.lastname: Turaga
authors.affiliation: Division of Surgical Oncology, Department of Surgery, Froedtert and The Medical College of Wisconsin, 9200 West Wisconsin Avenue, Milwaukee, WI, 53226, USA.
authors.forename: T
authors.initials: T
authors.lastname: Clark Gamblin
authors.affiliation: Center for Bioethics and Medical Humanities, Institute for Health and Society, Medical College of Wisconsin, Milwaukee, WI, USA.
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Strong
authors.affiliation: Division of Surgical Oncology, Department of Surgery, Froedtert and The Medical College of Wisconsin, 9200 West Wisconsin Avenue, Milwaukee, WI, 53226, USA. fjohnston@mcw.edu.
authors.forename: Fabian M
authors.initials: FM
authors.lastname: Johnston
mesh_terms: D001291:Attitude of Health Personnel; D014408:Biomarkers, Tumor / Q000235:genetics*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods / Q000706:statistics & numerical data*; D015894:Genome, Human; D018095:Germ-Line Mutation / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology; D018570:Risk Assessment
chemical_list: D014408:Biomarkers, Tumor
keywords: Atttitudes; Geneticist; NGS guidelines; Next generation sequencing; Qualitative research