title: Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients.
abstract: Recent advances in next generation sequencing have enabled panel gene testing, or simultaneous testing for mutations in multiple genes for a clinical condition. With more extensive and widespread genetic testing, there will be increased detection of genes with moderate penetrance without established clinical guidelines and of variants of uncertain significance (VUS), or genetic variants unknown to either be disease-causing or benign. This study surveyed 232 patients who underwent genetic counseling for hereditary breast and ovarian cancer to examine the impact of panel gene testing on psychological outcomes, patient understanding, and utilization of genetic information. The survey used standardized instruments including the Impact of Event Scale (IES), Multidimensional Impact of Cancer Risk Assessment (MICRA), Satisfaction with Decision Instrument (SWD), Ambiguity Tolerance Scale (AT-20), genetics knowledge, and utilization of genetic test results. Study results suggested that unaffected individuals with a family history of breast or ovarian cancer who received positive results were most significantly impacted by intrusive thoughts, avoidance, and distress. However, scores were also modestly elevated among unaffected patients with a family history of breast and ovarian cancer who received VUS, highlighting the impact of ambiguous results that are frequent among patients undergoing genetic testing with large panels of genes. Potential risk factors for increased genetic testing-specific distress in this study included younger age, black or African American race, Hispanic origin, lower education level, and lower genetic knowledge and highlight the need for developing strategies to provide effective counseling and education to these communities, particularly when genetic testing utilizes gene panels that more commonly return VUS. More detailed pre-test education and counseling may help patients appreciate the probability of various types of test results and how results would be used clinically, and allow them to make more informed decisions about the type of genetic testing to select.
authors.affiliation: College of Physicians and Surgeons, Columbia University, New York, NY, USA.
authors.forename: Heidi S
authors.initials: HS
authors.lastname: Lumish
authors.affiliation: College of Physicians and Surgeons, Columbia University, New York, NY, USA.
authors.forename: Hallie
authors.initials: H
authors.lastname: Steinfeld
authors.affiliation: Division of Clinical Genetics, New York Presbyterian Hospital, New York, NY, USA.
authors.forename: Carrie
authors.initials: C
authors.lastname: Koval
authors.affiliation: Division of Clinical Genetics, New York Presbyterian Hospital, New York, NY, USA.
authors.forename: Donna
authors.initials: D
authors.lastname: Russo
authors.affiliation: Division of Clinical Genetics, New York Presbyterian Hospital, New York, NY, USA.
authors.forename: Elana
authors.initials: E
authors.lastname: Levinson
authors.affiliation: Division of Clinical Genetics, New York Presbyterian Hospital, New York, NY, USA.
authors.forename: Julia
authors.initials: J
authors.lastname: Wynn
authors.affiliation: Department of Biostatistics, Columbia University, New York, NY, USA.
authors.forename: James
authors.initials: J
authors.lastname: Duong
authors.affiliation: Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA. Wkc15@columbia.edu.|Division of Molecular Genetics, 1150 St. Nicholas Avenue, Room 620, New York, NY, 10032, USA. Wkc15@columbia.edu.
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling / Q000458:organization & administration* / Q000523:psychology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008495:Medical Oncology; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics*; D012307:Risk Factors
keywords: Breast cancer; Cancer genetics; Genetic counseling; Genetic testing for cancer susceptibility; Hereditary breast and ovarian cancer; MICRA; Panel gene testing