High risk genetic screening program in a community hospital breast imaging center.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1507-1507 ◽  
Author(s):  
Anne C. Kushwaha ◽  
Lilian E Sweeney ◽  
Madhumita Ghosh ◽  
Banu Arun
Keyword(s):  
Genetic Counseling ◽  
High Risk ◽  
Low Income ◽  
Genetic Screening ◽  
Breast Imaging ◽  
Screening Tool ◽  
Screening Program ◽  
Genetic Counselor ◽  
Imaging Center ◽  
Nurse Navigator

1507 Background: The NCCN has published guidelines for screening and testing of Hereditary Breast and Ovarian Cancer (HBOC) that is typically used by the primary physician or oncologist. Little data exists on the value of genetic screening at a major health care access point: the breast imaging center (BIC). Using BICs as potential clinics to identify high risk women could increase the number of appropriate referrals for genetic risk assessment. Therefore, at our hospital-based BIC serving mostly low to middle income patients in a major metropolitan center, we developed a practical screening tool based on the HBOC guidelines and prospectively screened women receiving screening and diagnostic mammography. Methods: A questionnaire based on the NCCN HBOC genetic referral guidelines was added to the intake forms of all patients (pts) obtaining breast imaging at our BIC from 2012 to 2015. Forms were reviewed by the radiologists and flagged if the patient met the guidelines of the tool. Identified pts were contacted by letter and/or telephone and a nurse navigator or genetic counselor verified data, and provided information about genetic counseling to the patient prior to scheduling genetic counseling appointments. Results: Almost 35, 000 pts were seen during the study period. 1214 pts (3.5%) were flagged as possibly high risk, of which 189 pts. had received prior genetic testing. Of the 1025 remaining pts identified as candidates for genetic counseling, 258 (25%) made a genetic counseling appointment and 163 (16%) received genetic counseling. 106 pts. were tested for BRCA1/2. 9 pts (8.5%) tested positive for a BRCA1/2 pathogenic mutation and 8 pts (7.5%) had a Variant of Unknown Significance. Conclusions: Screening for HBOC syndromes at the time of annual breast imaging in a community-based middle to low income metropolitan breast imaging center is practical. Our screening tool identified women with BRCA mutations who would have been otherwise missed. This will have immediate implications for the patient and their family members in regards to increased surveillance and risk reductive surgery discussions.

Increasing referral of at‐risk women for genetic counseling and BRCA testing using a screening tool in a community breast imaging center

Cancer ◽  
2021 ◽  
Author(s):  
Banu K. Arun ◽  
Susan K. Peterson ◽  
Lilian E. Sweeney ◽  
Rachel D. Bluebond ◽  
Rebecca S. S. Tidwell ◽  
...  
Keyword(s):  
At Risk ◽  
Genetic Counseling ◽  
Breast Imaging ◽  
Screening Tool ◽  
Brca Testing ◽  
Imaging Center

scholarly journals Inequities in Genetic Testing for Hereditary Breast Cancer: Implications for Public Health Practice

2018 ◽  
Vol 4 (Supplement 2) ◽  
pp. 242s-242s
Author(s):  
A. Sayani
Keyword(s):  
Public Health ◽  
Breast Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Health Services ◽  
Genetic Screening ◽  
Screening Program ◽  
Public Health Practice ◽  
Health Practice ◽  
Socially Disadvantaged

Background and context: The Ontario Breast Screening Program for women with a genetic predisposition to breast cancer is 1 of the first international models of a government-funded public health service that offers systematic genetic screening to women at a high-risk of breast cancer. However, since the implementation of the program in 2011, enrolment rates have been lower than anticipated. While there may be several reasons for this to happen, it does call into consideration the 'inverse equity law', whereby the more advantaged in society are the first to participate and benefit from universal health services. An outcome of this phenomenon is an increase in the health divide between those that are at a social advantage vs those that are not. Aim: Using an intersectionality lens this review illuminates the role of the social determinants of health and social identity in creating possible barriers in the access to genetic screening for hereditary breast cancer, and the implications for public health practice in recognizing and ameliorating these differences. Strategy/Tactics: Although it remains too early to understand the exact cause for underenrolment in the OBSP high-risk screening program, this review serves to illuminate how screening programs that are used as targeted interventions to improve health outcomes must take into consideration the complexities associated with utilization and need across the entire population. A failure to do so may further disenfranchise socially disadvantaged individuals and widen the health equity gap that currently exists between population groups based on social location. Program/Policy process: The Ontario Breast Screening Program (OBSP) for High Risk Women is funded by the government; therefore, financial barriers in terms of access to care do not exist for individuals seeking screening. Despite this, the program has had low levels of enrolment based on their population targets (Cancer Care Ontario, 2012). Outcomes: While access to health care services is an important social determinant of health (Whitehead, 1992), the structure and design of health services can render them structurally unavailable and socially inacceptable to certain population groups (Gilson et al., 2007). Indeed, recent studies clearly demonstrate how socially disadvantaged individuals, such as those with lower levels of education, and those from ethnic minority groups consistently underuse health services despite the lack of a financial barrier to care (Maddison, 2011). What was learned: The way in which genetic testing is both accessed and used follow similar trends, such that higher levels of both income and education correlate with an increased awareness of genetic testing, a greater likely hood of receiving referrals for genetic testing, appropriateness of genetic counseling and the final decision to proceed with genetic testing.

Genetic counseling and testing of an underserved population at a large city hospital.

2014 ◽  
Vol 32 (26_suppl) ◽  
pp. 38-38
Author(s):  
Kathie-Ann P. Joseph ◽  
Shubhada Dhage ◽  
Kenneth Rifkind
Keyword(s):  
Genetic Counseling ◽  
High Risk ◽  
Low Income ◽  
Breast Surgery ◽  
Personal History ◽  
Counseling And Testing ◽  
Number Of Patients ◽  
Risk Patients ◽  
History Of ◽  
Racial Ethnic

38 Background: Genetic counseling and testing for hereditary breast and ovarian cancer is underutilized in low-income and racial/ethnic women. We examine the number of patients referred for genetic counseling over from 2011-2012, clinic referral pattern, and number of patients tested in a population of largely underserved, immigrant patient population. Methods: The study was conducted in Bellevue Hospital. A retrospective review of patients referred to this institution’s high-risk clinic was analyzed. Demographics, insurance status, BRCA status, if tested, and source of referral were collected. Results: Between 2011-2012, 196 patients were referred for genetic counselling. The majority of the referrals came from specialty clinics: Breast Surgery (42%), Medical Oncology (24%) and Gyn (8.7%). 17.5% were classified as other. One percent of consults came from internal medicine, 0.5% from women’s clinic, 4% were referred from family members. Of those patients counseled, 83 were tested. Breast surgery had the highest yield with 49% of the patients tested, followed by med onc (33%). One patient refused testing. Forty-seven of our patients were able to receive genetic testing through Myriad hardship, thirty-three through Medicaid, two paid by Bellevue Hospital, and one by private insurance. Five patients were BRCA1 positive, five patients were BRCA2 positive (12% of patients tested); An additional five patients were BRCA2 MUS. Racial/ethnic breakdown of the BRCA positive patients were 40% Asian, 20% Latina, 30% African American, 10% White. Four patients had a personal history of BrCa, two patients personal history of OvCa, one patient personal history of BCa/OvCa, and three patients FHBCa/OvCa. Conclusions: Genetic testing for HBOC can be underutilized in low-income and racial/ethnic women due to lack of insurance and lack of education. It is possible to get many high-risk women tested and most patients are receptive to testing when the benefits of testing are clearly explained. Our results indicate that while cancer specialists are referring high-risk patients, there may be room for education on the part of primary care specialists to refer more unaffected high risk patients. This may afford patients the opportunity to make better informed screening and treatment decisions.

Population genetic screening for hereditary breast and ovarian cancer in at-risk patients: A novel testing and prevention model for community hospitals reveals high mutation rates rurally.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1575-1575
Author(s):  
Charles Hendrix Shelton ◽  
Leigh Boehmer ◽  
Christine B. Weldon ◽  
William C. Guenther ◽  
Julia Rachel Trosman ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
High Risk ◽  
Genetic Screening ◽  
Systematic Approach ◽  
Germline Mutations ◽  
Breast And Ovarian Cancer ◽  
Risk Patients

1575 Background: Genetic testing for at risk non-cancer patients continues to increase (Guo F, et al Cancer 2020). We identified a high risk of familial breast and ovarian cancer in rural eastern North Carolina, and created a systematic approach for genetic screening, counseling and testing. Methods: A family history questionnaire was designed to assess for the risk for hereditary breast and ovarian cancer (HBOC) using NCCN guidelines, and used at key intake points within the unaffected population to determine eligibility for genetic testing. First it was offered at the time of all mammograms. Second, we offered it in the primary gynecology care setting to capture younger patients not participating in screening mammography. Patients meeting HBOC criteria were sent a letter and two phone calls to schedule genetic counseling. Analysis via descriptive statistics. Results: 3000 rural women screened using our systematic approach to genetic risk assessment. 22.4% (673/3000) of female patients met NCCN criteria for HBOC panel testing. All offered consultation and counseling. With a backlog to see patients due to higher than expected accrual, 217 patients have completed pre-test genetic counseling, 201 completed local 19-gene panel test, and 201 had post-test counseling. Germline mutations (=>1) that predict for genetic susceptibility to cancer(s) occur in 7.8% of our screened and tested population. Currently 1 in 400 patients screened in our unaffected population carry a BRCA mutation, and 1 in 200 carry some pathogenic mutation that increases risk for HBOC. Conclusions: This rural model of screening and prevention of at risk patients for HBOC is successful at detecting pathogenic mutations in unaffected patients before they are diagnosed with cancer. Interestingly, the rate of positivity in the unaffected population (meeting criteria) is as high as the known breast cancer population rate of germline mutations (5-10%), validating the use of testing guidelines with our model. Discovering this susceptibility before a cancer diagnosis resulted in appropriate high risk management with prevention and risk reduction strategies. We plan to expand this model to the male screening population in 2021, and streamline genetic assessment and testing for the larger population at risk by engaging more rural primary care clinics over time to increase testing compliance. We also plan to consider broader gene panels as newer mutations become linked to HBOC. Clinical trial information: UMCIRB 19-001052.

Characteristics of young women enrolled in a high-risk breast cancer screening program

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. 1512-1512
Author(s):  
S. Tierney ◽  
J. C. Delli Carpini ◽  
M. L. Gemignani
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Young Women ◽  
Breast Imaging ◽  
Screening Program ◽  
Inclusion Criteria ◽  
Risk Screening ◽  
The Past ◽  
High Risk Screening

1512 Background: Young women at higher risk for breast cancer may benefit from enrollment in a dedicated surveillance program to ensure that their unique needs for examination, imaging, and risk modification are met. Though these programs do exist, little information is known about their effectiveness. In this pilot study, we sought to characterize the patients enrolled in our high-risk screening program. Methods: The Special Surveillance Breast Program (SSBP) at the Memorial Sloan-Kettering Cancer Center (MSKCC) was initiated in 1992 and enrolls patients in four categories: known and probable genetic mutation carriers, atypia, LCIS, and positive family history. Data is collected prospectively in an IRB-approved database and reviewed retrospectively. Patients enrolled from 1992 to March 2008 were included. Inclusion criteria included age under 40 and at least one follow-up visit. Data was validated with the patients’ medical records. Results: Four hundred and thirteen patients met inclusion criteria. The median age at enrollment was 33. The median duration of enrollment was 41 months. Defining continued participation as having a follow up visit in 2008, 193 patients (48%) were retained. At enrollment, 247 patients (60%) had ever undergone screening breast imaging. Of these, 216 patients (52%) had undergone screening in the past 2 years. At the most recent visit, 394 patients (95%) had ever undergone screening breast imaging and 376 patients (91%) had undergone screening in the past 2 years. Of the patients who had not had any radiologic screening, 18 patients (78%) were under the age of 35 at the most recent visit. Two hundred and ninety one patients (70%) reported performing self-breast exams. Two patients were diagnosed with cancer during their participation. An additional six patients underwent prophylactic surgery at MSKCC. Conclusions: Enrollment in a high-risk screening program was associated in an increase in any utilization of radiologic screening from 60% to 95%. It is unknown how this would compare to similar high-risk populations not enrolled in any program. Considering their voluntary enrollment and return for follow-up, these women are likely highly motivated regarding their health care. Further prospectively collected survey data from patients, including those who did not return after their initial visit, is planned. No significant financial relationships to disclose.

Foundations of Perinatal Genetic Counseling

2018 ◽  
Author(s):  
Amber Mathiesen ◽  
Kali Roy
Keyword(s):  
Genetic Counseling ◽  
High Risk ◽  
Assisted Reproductive Technology ◽  
Prenatal Screening ◽  
Genetic Counselor ◽  
Reproductive Technology ◽  
High Risk Pregnancy ◽  
Chorionic Villus Sampling ◽  
Pregnancy History ◽  
Risk Pregnancy

Foundations of Perinatal Genetic Counseling provides an overview of the core concepts needed to practice perinatal genetic counseling, including the basics of pregnancy, the genetic counseling appointment, family and pregnancy history, prenatal screening, prenatal diagnosis, common indications, carrier screening, management of high-risk pregnancy, assisted reproductive technology, preimplantation genetic screening and diagnosis, and common situations arising in perinatal genetic counseling. It discusses general obstetrical information as it pertains to perinatal genetic counseling, including topics such as calculating gestational age, understanding gravidity and parity, and reproductive options. This book reviews the key components of a perinatal genetic counseling session and how to take a perinatal family, medical, and pregnancy history, as well as a prenatal risk evaluation based on age, family and pregnancy history, testing results, and ultrasound findings. It includes a detailed description of both prenatal screening and diagnostic testing options, including maternal serum screening, cell-free DNA testing, amniocentesis, and chorionic villus sampling. It also provides an explanation of carrier testing, including methods of testing, types of conditions, and indications for testing. This text provides information on the indications for referral to a perinatal genetic counselor such as age-related risks, personal and family history, ultrasound anomalies, teratogen exposure, recurrent pregnancy loss, and preconception counseling. It also reviews the management and types of referrals made in a high-risk pregnancy. Assisted reproductive technology is reviewed as well as descriptions of preimplantation genetic diagnosis and screening. It also describes common psychosocial and ethical situations encountered in perinatal genetic counseling.

scholarly journals Utilizing an Equitable and Multifaceted Zika Screening Tool to Identify At-Risk Individuals For Testing and Education: Successes, Challenges, and Lessons Learned in Harris County, Texas.

2017 ◽  
Vol 4 (suppl_1) ◽  
pp. S303-S303
Author(s):  
Aisha Haynie ◽  
Diana Martinez ◽  
Sherry Jin ◽  
Tamisha Piper ◽  
Brian Reed ◽  
...  
Keyword(s):  
High Risk ◽  
Low Income ◽  
Screening Tool ◽  
Lessons Learned ◽  
Successful Implementation ◽  
Harris County ◽  
Response Effort ◽  
Screening Process ◽  
High Risk Patients ◽  
Risk Patients

Abstract Background Harris County Public Health (HCPH) is the health department for Harris County, Texas jurisdiction, representing 2.3 million residents. Located in the nation’s Third most populous county, HCPH’s 13 wellness clinics and WIC centers provide services for over 100,000 patients annually. Since late 2015, HCPH confirmed 46 individuals with Zika infection/disease, including two infants with microcephaly and congenital disease. Over two-thirds of these infections were in individuals of Hispanic origin, including all twelve infected pregnant women, two of whom were unaccompanied minors. Due to Harris County’s geographic vulnerability to Zika, highly mobile residents, and HCPH’s largely low-income Hispanic and refugee clinic population, equitably screening and educating patients about Zika exposure is of paramount importance. Methods Using U.S. CDC guidelines, HCPH developed a multifaceted Zika Screening Tool (ZST) for use within clinics. Front desk staff, outreach workers, nursing staff, and clinical providers all participate in various portions of the education-based screening process. The ZST is updated as new CDC guidance becomes available. Results All pregnant and high-risk patients received Zika education. Forty-five patients, mostly pregnant females, were additionally referred for testing and further care. Conclusion HCPH’s ZST successfully identified high-risk patients for education and testing. This presentation will explore HCPH’s equity-based rationale for education-oriented screening, the ZST’s evolution over time, and describe ZST forms and their integration into the clinic visit. Successful implementation strategies, challenges, and lessons learned will also be discussed, along with the role of the ZST as an integral part of HCPH’s overall multidisciplinary Zika response effort. Disclosures All authors: No reported disclosures.

scholarly journals Validation of an Efficient Screening Tool to Identify Low-Income Women at High Risk for Hereditary Breast Cancer

2016 ◽  
Vol 19 (6) ◽  
pp. 342-351 ◽  
Author(s):  
Susan L. Stewart ◽  
Celia P. Kaplan ◽  
Robin Lee ◽  
Galen Joseph ◽  
Leah Karliner ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Low Income ◽  
Hereditary Breast Cancer ◽  
Screening Tool ◽  
Low Income Women ◽  
Efficient Screening
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