scholarly journals Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology

2020 ◽  
pp. 991-1008
Author(s):  
Hemant Malhotra ◽  
Pradnya Kowtal ◽  
Nikita Mehra ◽  
Raja Pramank ◽  
Rajiv Sarin ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Risk Reduction ◽  
Pediatric Oncology ◽  
Indian Society ◽  
Site Mutation ◽  
Consensus Recommendations ◽  
Consensus Document ◽  
Counseling And Testing ◽  
Multiplex Ligation Probe Amplification

PURPOSE Hereditary breast and ovarian cancer (HBOC) syndrome is primarily characterized by mutations in the BRCA1/2 genes. There are several barriers to the implementation of genetic testing and counseling in India that may affect clinical decisions. These consensus recommendations were therefore convened as a collaborative effort to improve testing and management of HBOC in India. DESIGN Recommendations were developed by a multidisciplinary group of experts from the Indian Society of Medical and Pediatric Oncology and some invited experts on the basis of graded evidence from the literature and using a formal Delphi process to help reach consensus. PubMed and Google Scholar databases were searched to source relevant articles. RESULTS This consensus statement provides practical insight into identifying patients who should undergo genetic counseling and testing on the basis of assessments of family and ancestry and personal history of HBOC. It discusses the need and significance of genetic counselors and medical professionals who have the necessary expertise in genetic counseling and testing. Recommendations elucidate requirements of pretest counseling, including discussions on genetic variants of uncertain significance and risk reduction options. The group of experts recommended single-site mutation testing in families with a known mutation and next-generation sequencing coupled with multiplex ligation probe amplification for the detection of large genomic rearrangements for unknown mutations. Recommendations for surgical and lifestyle-related risk reduction approaches and management using poly (ADP-ribose) polymerase inhibitors are also detailed. CONCLUSION With rapid strides being made in the field of genetic testing/counseling in India, more oncologists are expected to include genetic testing/counseling as part of their clinical practice. These consensus recommendations are anticipated to help homogenize genetic testing and management of HBOC in India for improved patient care.

Identification and management of familial breast cancer in Austria

2017 ◽  
Vol 32 (2) ◽  
Author(s):  
Christian F. Singer ◽  
Yen Y. Tan ◽  
Christine Rappaport
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Familial Breast Cancer ◽  
Prophylactic Surgery ◽  
Management Options ◽  
Counseling And Testing ◽  
Legal Implications

AbstractAimThe aim of this study is to review the legal implications, the technology, the indications and the management of women with a familial background of breast and/or ovarian cancer.MethodsWe have reviewed the literature and national Austrian guidelines to describe the uptake of genetic counseling and the management options offered in Austria.ResultsGenetic testing for theConclusionWhile readily available country-wide counseling has led to an increase in counseling and testing, Austrian legislation mandates “non-directional counseling” resulting in a comparatively low uptake of prophylactic surgery.

Uptake of genetic counseling and testing in a clinic based population of women with breast cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10524-10524
Author(s):  
Alexandra Wehbe ◽  
Mark A. Manning ◽  
Hadeel Assad ◽  
Kristen Purrington ◽  
Michael S. Simon
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
White Women ◽  
Private Insurance ◽  
Stage Iv ◽  
Early Stage Disease ◽  
Cancer Susceptibility Genes ◽  
Counseling And Testing ◽  
Stage Iv Disease

10524 Background: Carriers of pathogenic variants in cancer susceptibility genes have an elevated risk of developing breast, ovarian, and other cancers.We conducted a medical record review to determine the uptake of genetic counseling and testing in a clinic-based population of women with breast cancer. Methods: Medical records of 150 women with breast cancer seen at the Karmanos Cancer Institute between January-December 2018 were reviewed to determine the proportion eligible for genetic testing according to National Comprehensive Cancer Network guidelines. We also assessed genetics referral rates, appointment completion and results of genetic testing. Using chi-square and ANOVA tests, we analyzed the association of demographic and clinical factors with eligibility and referral to genetic counseling. Results: The average age of diagnosis was 57.1 years old, with 68.7% of women diagnosed with stage I-III disease, and 31.3% diagnosed with stage IV disease. There were 91 (60.7%) women who met NCCN criteria for genetic testing, of which 46.2% ultimately underwent genetic testing. Eligible women were more likely to be younger (52.6 vs. 64.0 years old), White (75.0% vs. 54.5%), and have Medicaid (75.0%) or private insurance (72.9%) vs. Medicare (44.8%). Women who met NCCN criteria were 3.5 times more likely to be referred for genetic counseling than those that did not meet eligibility criteria. Women were also more likely to be referred if they had early-stage disease compared to stage IV (67.8% vs. 48.3%), and Medicaid or private insurance compared to Medicare (71.4%, 72.0% and 40.0%, respectively). Of eligible women, 59.3% had a genetic counseling appointment scheduled, and of those, 78.0% attended their appointment. There were no apparent differences in appointment completion based on race with similar percentages of Black and White women completing their appointments (74.0% and 77.0% respectively). Women with stage IV disease were more likely to complete their appointments (83.0%) compared to women with stages I-III (74.0%) and fewer women with Medicare completed their genetic counseling appointment (56.0%) compared to women with Medicaid (83.0%) and women with private insurance (83.0%). Among women who attended their appointment, 95.9% underwent genetic testing. Of women who had genetic testing, 8.5% had a pathogenic variant and 30.4% had a variant of unknown significance. Conclusions: The results of this study indicate that lack of genetic counseling referrals contribute to a gap between the need for and completion of genetic testing. By understanding barriers to genetic counseling and testing, future clinical initiatives could effectively improve accessibility to genetic counseling services.

Quality of cancer family history and referral for genetic counseling and testing among oncology practices: A pilot test of quality measures as part of the ASCO Quality Oncology Practice Initiative (QOPI).

2012 ◽  
Vol 30 (18_suppl) ◽  
pp. CRA1505-CRA1505 ◽  
Author(s):  
Marie Wood ◽  
Pamela Kadlubek ◽  
Karen H. Lu ◽  
Dana Wollins ◽  
Jeffrey N. Weitzel ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Family History ◽  
Pilot Testing ◽  
Cancer Family ◽  
Referral Rates ◽  
Cancer Family History ◽  
Counseling And Testing ◽  
Oncology Practice

CRA1505 Background: The cancer family history (CFH) is an important tool for identification of individuals for genetic counseling/testing (GC/GT). Prior studies demonstrate a low rate of family history documentation and low referral rates for genetic counseling and genetic testing. Methods: In 2011ASCO began pilot testing new measures in QOPI to evaluate the practice of family history taking and referral for genetic counseling/testing in patients with either breast cancer (BC) or colorectal cancer (CRC). The measures assessed the presence or absence of CFH in 1st/2nd degree relatives, age at cancer diagnosis, referral for GC/GT and outcomes of referral. Results: Between September and October 2011 272 practices pilot tested these measures and reported on 10,466 patients (BC 6569, CRC 3897). 77.4% of all charts reviewed documented presence or absence of CFH in 1st degree relatives (BC 81.2% (CI 80-82%), CRC 77.4% (CI 76-79%), p= <0.001) and 61.5% of charts documented presence or absence of CFH in 2nd degree relatives (BC 68.9% (CI 68-70%), CRC 57.3% (CI 56-59%) p=<0.001). Age at diagnosis was documented for all relatives with cancer in 30.7% of charts (BC 45.2% (CI 44-47%), CRC 35.4% (CI 34-37%) p=<0.001). Patients were referred for GC/GT in 22.1% of all charts reviewed (BC 29.1% (CI 28-30%), CRC 19.6% (CI, 18-21%) p=<0.001). Of patients with hereditary risk (defined by selected risk guidelines) 52.2% of BC and 26.4% CRC were referred for GC/GT. When genetic testing was performed by the practice consent was documented 77.7% of the time and discussion of results was documented 78.8% of the time. Conclusions: Appropriate referral for GC/GT requires a complete and accurate CFH. In this pilot testing of QOPI measures we identified a higher quality of CFH information than expected though with room for improvement. Significant differences were seen between BC and CRC charts with greater accuracy of CFH and higher referral rates among BC patients. To obtain improvement in the identification and management of patients at high risk, significant improvements are needed. Education is part of the answer.

scholarly journals Access to Genetic Testing Impacts Oncologists´ Decisions on Ovarian Cancer Personalized Treatment: Lessons Learned From a National Program in Greece

2018 ◽  
Vol 4 (Supplement 2) ◽  
pp. 74s-74s
Author(s):  
I. Boukovinas ◽  
G. Lypas ◽  
M. Liontos ◽  
C. Andreadis ◽  
C. Papandreou ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Family Members ◽  
Brca2 Gene ◽  
Free Access ◽  
National Program ◽  
Mutation Carriers ◽  
Counseling And Testing

Background: State health insurance authorities in Greece do not reimburse genetic testing for cancer predisposition. The Hellenic Society of Medical Oncology has launched and carries out a national program covering genetic testing for BRCA1/2 mutations detection, with the financial support of pharmaceutical industry. Aim: This analysis evaluates how, during this program, access to genetic testing transformed the oncologists' therapeutic approach toward their ovarian cancer patients and how the results impacted treatment decisions concerning PARP inhibitors. Adoption of testing by healthy relatives and timing of testing in the disease continuum were also evaluated. Methods: Adult patients with high-grade epithelial ovarian carcinoma, irrespectively of family history or age at diagnosis were eligible for this program. Genetic counseling was recommended before testing, and both were offered at no financial cost. First degree family members of pathogenic mutation carriers were also offered free counseling and testing. Results: From March 2015 through January 2018, 708 patients were enrolled and tested. One hundred and forty seven (20.7%) mutation carriers were identified, 102 (14.4%) in BRCA1 and 45 (6.3%) in BRCA2 gene. Testing was more often pursued at initial diagnosis (61%) than at recurrence (39%), as recorded for 409 patients with available relevant information. During the 1st year of the program, average monthly tests performed were 25.1, while during the 3rd year this number increased to 34.3 tests per month. Among patients who tested positive for deleterious BRCA1/2 mutations, relapse was reported in 58 patients, 94.8% of which (n= 55) received treatment with the PARP inhibitor olaparib as per its indication. Family members of 21 patients (14.3%), out of the 147 who tested positive, received genetic counseling and testing for the mutation identified in the context of the program. Conclusion: Free access to genetic testing for BRCA1/2 for ovarian cancer patients and genetic consultation facilitates testing uptake, affects common clinical practice & has major impact on patients and their families. Still, diffusion of genetic information and broader testing of family members require further efforts by the oncological community.

scholarly journals Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer

Cancers ◽  
2018 ◽  
Vol 10 (11) ◽  
pp. 435 ◽  
Author(s):  
Jeanna McCuaig ◽  
Susan Armel ◽  
Melanie Care ◽  
Alexandra Volenik ◽  
Raymond Kim ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Service Delivery ◽  
Patient Outcomes ◽  
Scoping Review ◽  
Hereditary Cancer ◽  
Genetic Counselor ◽  
Alternative Models ◽  
Counseling And Testing ◽  
Study Team

The combination of increased referral for genetic testing and the current shortage of genetic counselors has necessitated the development and implementation of alternative models of genetic counseling and testing for hereditary cancer assessment. The purpose of this scoping review is to provide an overview of the patient outcomes that are associated with alternative models of genetic testing and genetic counseling for hereditary cancer, including germline-only and tumor testing models. Seven databases were searched, selecting studies that were: (1) full-text articles published ≥2007 or conference abstracts published ≥2015, and (2) assessing patient outcomes of an alternative model of genetic counseling or testing. A total of 79 publications were included for review and synthesis. Data-charting was completed using a data-charting form that was developed by the study team for this review. Seven alternative models were identified, including four models that involved a genetic counselor: telephone, telegenic, group, and embedded genetic counseling models; and three models that did not: mainstreaming, direct, and tumor-first genetic testing models. Overall, these models may be an acceptable alternative to traditional models on knowledge, patient satisfaction, psychosocial measures, and the uptake of genetic testing; however, particular populations may be better served by traditional in-person genetic counseling. As precision medicine initiatives continue to advance, institutions should consider the implementation of new models of genetic service delivery, utilizing a model that will best serve the needs of their unique patient populations.

Genetic Counseling and Testing

2014 ◽  
Author(s):  
Rhona MacLeod ◽  
Aad Tibben
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Practice Guidelines ◽  
Best Practice ◽  
Family Members ◽  
Lessons Learned ◽  
Predictive Test ◽  
Best Practice Guidelines ◽  
Counseling And Testing ◽  
Testing And Counseling

This chapter considers the challenges for clinicians involved in genetic counseling for Huntington’s disease, referring to the literature and best-practice guidelines. The issues involved in genetic testing and counseling around reproductive options are discussed. Ways of tailoring predictive test counseling to take better account of individuals’ experiences and knowledge are explored, and more complex predictive test counseling scenarios, such as requests from minors and individuals at 25% risk, are also covered. The process of assisting families near the time of diagnosis is explored, including ways of helping individuals in apparent denial of symptoms and facilitating communication among family members. Finally, this chapter reflects on lessons learned from our collective experiences and considers areas in which more work is needed.

Exploring African American males' attitudes towards genetic testing for prostate cancer risk.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13552-e13552
Author(s):  
Amy Leader ◽  
Thierry Fortune ◽  
Pamela Weddington ◽  
Nicole Crumpler ◽  
Veda N. Giri
Keyword(s):  
Prostate Cancer ◽  
African American ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Family History ◽  
Focus Groups ◽  
Cultural Beliefs ◽  
Primary Care Visit ◽  
Health History ◽  
Counseling And Testing

e13552 Background: African American (AA) males have disproportionately high prostate cancer (PCA) incidence and mortality rates compared to men of other races. While genetic testing for PCA is rapidly expanding, AA men represent fewer than 10% of those who undergo genetic counseling and testing. Barriers for AA males may include a lack of awareness or understanding, cultural beliefs, financial and access-to-care limitations, fear of discrimination, and mistrust in the healthcare system. These issues may be exacerbated among low-income, urban AA males. Methods: We conducted two focus groups with AA males who live in a low-resource neighborhood in a major US city to explore their understanding about PCA, challenges in obtaining and discussing family health history, and attitudes towards genetic counseling and testing. Prior to the start of the focus groups, men provided informed consent and completed a brief survey to capture demographic and health history information. Focus groups were moderated by a male member of the community, were audio and video recorded, and transcribed verbatim. Transcripts were analyzed using NVivo 12 to deduce themes within the discussions. Results: Seventeen men participated in one of two focus groups. The mean age was 54 years old (range: 40-66). Only 5 men (30%) were married. Ten men (60%) did not report a family history of PCA, while the remaining 7 reported that their father, grandfather, brother or uncle had PCA. All men had a primary care visit in the past 3 years, but only 13 out of 17 men (76%) reported discussing PCA. Focus group discussions and analyses revealed multiple key themes. Men had limited understanding of the prostate and PCA, with somewhat fatalistic views toward cancer. Family history was recognized as an important risk factor for cancer; talking about family history has become easier and more widely accepted. However, there was mixed reaction to genetic testing: most men were unfamiliar with it but were in favor of learning more, while a few did not see the utility of genetic information. Conclusions: AA men continue to have knowledge deficits about PCA. While there is strong understanding that cancer may be hereditary, there is less awareness about PCA genetic testing. Targeted genetic education and addressing access and cost barriers to genetic testing among AA males is needed to increase uptake of genetic testing and participation in genetic trials.

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