Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers
Lindsey McAlarnen, Kristen Stearns, Denise Uyar Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, WI, USACorrespondence: Denise UyarDivision of Gynecologic Oncology, Department of Obstetrics and Gynecology, Medical College of Wisconsi...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2021-01-01
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| Series: | The Application of Clinical Genetics |
| Subjects: | |
| Online Access: | https://www.dovepress.com/challenges-of-genomic-testing-for-hereditary-breast-and-ovarian-cancer-peer-reviewed-article-TACG |
| _version_ | 1818430408196358144 |
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| author | McAlarnen L Stearns K Uyar D |
| author_facet | McAlarnen L Stearns K Uyar D |
| author_sort | McAlarnen L |
| collection | DOAJ |
| description | Lindsey McAlarnen, Kristen Stearns, Denise Uyar Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, WI, USACorrespondence: Denise UyarDivision of Gynecologic Oncology, Department of Obstetrics and Gynecology, Medical College of Wisconsin, 9200 W. Wisconsin Avenue, Milwaukee, WI 53226, USATel +1 414-805-6606Fax +1 414-805-6622Email duyar@mcw.eduAbstract: Completion of genetic testing is increasingly important for the complex care of patients with suspected hereditary breast and ovarian cancers (HBOC) and their at-risk family members. Identification of individuals with pathogenic variants has implications for targeted treatment recommendations, risk reduction strategies, increased surveillance recommendations, as well as the genetic testing of family members, known as cascade testing or screening. Due to advances in technology and decreasing costs, what was once single-gene genetic testing has evolved into large-scale multi-gene panel genomic testing. As germline genomic testing for HBOC becomes more and more available, it is important to identify the challenges that are associated with its use. In this manuscript, we review the current issues faced by germline genomic testing for HBOC which include effectively managing the marked increases in genetic referrals, interpreting the vast amount of information yielded by newer testing methods such as next generation sequencing (NGS), recognizing the need for better cascade screening strategies, potential exacerbation of health disparities and improving support for patients navigating the emotional impact related to positive, negative and indeterminate testing results.Keywords: genetic testing, genomic testing, hereditary breast and ovarian cancer syndrome, BRCA, cascade testing, next-generation sequencing |
| first_indexed | 2024-12-14T15:32:56Z |
| format | Article |
| id | doaj.art-e24cb4c1e2b84489929e7589bcb01c86 |
| institution | Directory Open Access Journal |
| issn | 1178-704X |
| language | English |
| last_indexed | 2024-12-14T15:32:56Z |
| publishDate | 2021-01-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | The Application of Clinical Genetics |
| spelling | doaj.art-e24cb4c1e2b84489929e7589bcb01c862022-12-21T22:55:49ZengDove Medical PressThe Application of Clinical Genetics1178-704X2021-01-01Volume 141961197Challenges of Genomic Testing for Hereditary Breast and Ovarian CancersMcAlarnen LStearns KUyar DLindsey McAlarnen, Kristen Stearns, Denise Uyar Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, WI, USACorrespondence: Denise UyarDivision of Gynecologic Oncology, Department of Obstetrics and Gynecology, Medical College of Wisconsin, 9200 W. Wisconsin Avenue, Milwaukee, WI 53226, USATel +1 414-805-6606Fax +1 414-805-6622Email duyar@mcw.eduAbstract: Completion of genetic testing is increasingly important for the complex care of patients with suspected hereditary breast and ovarian cancers (HBOC) and their at-risk family members. Identification of individuals with pathogenic variants has implications for targeted treatment recommendations, risk reduction strategies, increased surveillance recommendations, as well as the genetic testing of family members, known as cascade testing or screening. Due to advances in technology and decreasing costs, what was once single-gene genetic testing has evolved into large-scale multi-gene panel genomic testing. As germline genomic testing for HBOC becomes more and more available, it is important to identify the challenges that are associated with its use. In this manuscript, we review the current issues faced by germline genomic testing for HBOC which include effectively managing the marked increases in genetic referrals, interpreting the vast amount of information yielded by newer testing methods such as next generation sequencing (NGS), recognizing the need for better cascade screening strategies, potential exacerbation of health disparities and improving support for patients navigating the emotional impact related to positive, negative and indeterminate testing results.Keywords: genetic testing, genomic testing, hereditary breast and ovarian cancer syndrome, BRCA, cascade testing, next-generation sequencinghttps://www.dovepress.com/challenges-of-genomic-testing-for-hereditary-breast-and-ovarian-cancer-peer-reviewed-article-TACGgenetic testinggenomic testinghereditary breast and ovarian cancer syndromebrcacascade testingnext generation sequencing |
| spellingShingle | McAlarnen L Stearns K Uyar D Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers The Application of Clinical Genetics genetic testing genomic testing hereditary breast and ovarian cancer syndrome brca cascade testing next generation sequencing |
| title | Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers |
| title_full | Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers |
| title_fullStr | Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers |
| title_full_unstemmed | Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers |
| title_short | Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers |
| title_sort | challenges of genomic testing for hereditary breast and ovarian cancers |
| topic | genetic testing genomic testing hereditary breast and ovarian cancer syndrome brca cascade testing next generation sequencing |
| url | https://www.dovepress.com/challenges-of-genomic-testing-for-hereditary-breast-and-ovarian-cancer-peer-reviewed-article-TACG |
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