Germline Genetic Testing: What the Breast Surgeon Needs to Know

Plichta, Jennifer K.; Sebastian, Molly; Smith, Linda A.; Menendez, Carolyn S.; Johnson, Anita; Bays, Sussan M.; Euhus, David M.; Clifford, Edward; Jalali, Mena; Kurtzman, Scott H.; Taylor, Walton A.; Hughes, Kevin S.

doi:10.1245/s10434-019-07341-8

Cited by 23 publications

(12 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In particular, a patient who had negative germline BRCA1 and 2 testing, who is from a family without pathogenic variants, should be considered for additional testing. 1 Genetic testing performed prior to 2014 most likely would not have had PALB2 or other potentially relevant genes included and may not have included testing for large genomic rearrangements in BRCA1 or BRCA2…”

Section: Access To Genetic Counseling and Testingmentioning

confidence: 99%

Consensus Guidelines on Genetic` Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons

et al. 2019

Self Cite

View full text Add to dashboard Cite

BackgroundThe purpose of this consensus guideline is to outline recommendations for genetic testing that medical professionals can use to assess hereditary risk for breast cancer.MethodsLiterature review included large datasets, basic and clinical science publications, and recent updated national guidelines. Genetic testing to assess hereditary risk of cancer is a complex, broad, and dynamic area of medical research. The dominant focus of this guideline is limited in scope to breast cancer.ResultsThere is a lack of consensus among experts regarding which genes among many should be tested in different clinical scenarios. There is also variation in the degree of consensus regarding the understanding of risk and appropriate clinical management of mutations in many genes.ConclusionsGenetic testing should be made available to all patients with a personal history of breast cancer. Recent data are reviewed that support genetic testing being offered to each patient with breast cancer (newly diagnosed or with a personal history). If genetic testing is performed, such testing should include BRCA1/BRCA2 and PALB2, with other genes as appropriate for the clinical scenario and family history. For patients with newly diagnosed breast cancer, identification of a mutation may impact local treatment recommendations. Patients who had genetic testing previously may benefit from updated testing. Genetic testing should be made available to patients without a history of breast cancer who meet National Comprehensive Cancer Network guidelines. Finally, variants of uncertain significance are not clinically actionable and these patients should be managed based on their individual risk factors.

show abstract

Section: Access To Genetic Counseling and Testingmentioning

confidence: 99%

Consensus Guidelines on Genetic` Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons

et al. 2019

Self Cite

View full text Add to dashboard Cite

show abstract

“…With the dramatic drop in the cost of DNA sequencing and the wide availability of multigene‐cancer panels, a rapidly increasing number of patients are receiving germline genetic testing, and many are found to have pathogenic variants in genes other than BRCA1 and BRCA2 . Providing patients with accurate risk estimates of developing cancer for each cancer susceptibility gene (penetrance) has become an emergent need for practicing physicians, as this is considered the foundation for personalizing prevention strategies for patients and their families …”

Section: The Explosion Of Medical Literature: History and Realitymentioning

confidence: 99%

Natural language processing to facilitate breast cancer research and management

et al. 2019

Self Cite

View full text Add to dashboard Cite

The medical literature has been growing exponentially, and its size has become a barrier for physicians to locate and extract clinically useful information. As a promising solution, natural language processing (NLP), especially machine learning (ML)-based NLP is a technology that potentially provides a promising solution. ML-based NLP is based on training a computational algorithm with a large number of annotated examples to allow the computer to "learn" and "predict" the meaning of human language.Although NLP has been widely applied in industry and business, most physicians still are not aware of the huge potential of this technology in medicine, and the implementation of NLP in breast cancer research and management is fairly limited. With a real-world successful project of identifying penetrance papers for breast and other cancer susceptibility genes, this review illustrates how to train and evaluate an NLPbased medical abstract classifier, incorporate it into a semiautomatic meta-analysis procedure, and validate the effectiveness of this procedure. Other implementations of NLP technology in breast cancer research, such as parsing pathology reports and mining electronic healthcare records, are also discussed. We hope this review will help breast cancer physicians and researchers to recognize, understand, and apply this technology to meet their own clinical or research needs. K E Y W O R D Sbreast cancer, genetics, medical literature, natural language processing

show abstract

“…Genetic counseling and testing have revolutionized the treatment and management of breast cancer in the late 1990s and have continued to advance in the following years. As technology has advanced and the number of genetic variations that testing is capable of identifying has improved, a greater proportion of the patient population has been able to utilize these resources [ 6 , 15 ]. NCCN criteria have continually evolved, and with it, eligibility criteria [ 15 ].…”

Section: Discussionmentioning

confidence: 99%

“…As technology has advanced and the number of genetic variations that testing is capable of identifying has improved, a greater proportion of the patient population has been able to utilize these resources [ 6 , 15 ]. NCCN criteria have continually evolved, and with it, eligibility criteria [ 15 ]. However, despite the decreased cost of genetic counseling and testing, broadened eligibility criteria, and improved availability of services, many patients still fail to obtain genetic counseling and, therefore, testing.…”

Section: Discussionmentioning

confidence: 99%

Demographic Barriers for Genetic Testing in High-Risk Breast Cancer Patients in the Northern Michigan Area

Hebert¹,

Pacheco²,

WintonLi³

et al. 2022

Cureus

View full text Add to dashboard Cite

Introduction: The National Comprehensive Cancer Network (NCCN) has outlined guidelines for criteria regarding genetic testing for high-penetrance breast and/or ovarian cancer susceptibility genes. Due to the lack of availability of genetic counseling services in Northern Michigan prior to COVID-19, the utilization of genetic testing falls well below recommended guidelines.Methods: Patients diagnosed with breast cancer in 2019 were randomly selected from Ascension Michigan's Northern Ministries Tumor Registry. A retrospective chart review was conducted. For patients who met NCCN criteria, their medical records were used to determine if genetic testing was recommended and if genetic testing was completed. Univariate (Crosstabs and t-tests) and multivariate tests with logistic regression were used to identify significant associations between the variables of interest.Results: One hundred and two (102) patient charts were reviewed in this group; 55 (52.4%) were eligible by the NCCN guidelines for genetic testing. From this eligible subset of patients, only 29 were offered genetic testing, and only 21 were tested. The mean age of the patients offered genetic counseling was 56.2 years compared and 67.6 years in the group not offered counseling (p < 0.001). The patient's insurance type was an independent factor for obtaining genetic testing, specifically, the subgroup who had Medicare (OR = 0.73, CI = 0.01-0.54; p = 0.02). Patients insured through Medicare were less likely to obtain genetic testing after referral to a genetic counselor (p = 0.01).Conclusion: Genetic counseling for high-risk breast cancer patients is below average in Northern Michigan, likely related to lack of physician referral, poor availability of counseling services, low socioeconomic status as well as a lower level of concern in older ages.

show abstract

Germline Genetic Testing: What the Breast Surgeon Needs to Know

Cited by 23 publications

References 35 publications

Consensus Guidelines on Genetic` Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons

Consensus Guidelines on Genetic` Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons

Natural language processing to facilitate breast cancer research and management

Demographic Barriers for Genetic Testing in High-Risk Breast Cancer Patients in the Northern Michigan Area

Contact Info

Product

Resources

About