A Comprehensive Program Enabling Effective Delivery of Regional Genetic Counseling

2018 ◽  
Vol 28 (5) ◽  
pp. 996-1002 ◽  
Author(s):  
Jubilee Brown ◽  
Aly Athens ◽  
David L. Tait ◽  
Erin K. Crane ◽  
Robert V. Higgins ◽  
...  

ObjectivesThe aim of this study was to demonstrate the utility of a comprehensive program involving management-based evidence, telemedicine, and patient navigation to provide genetic counseling services for patients with ovarian and breast cancer across a geographically large health care system.MethodsWe identified all patients with newly diagnosed ovarian and breast cancer in our health care system from January 2013 to December 2015 through the cancer registry. Referral characteristics and testing outcomes were recorded for each year and compared using the χ2 or Fisher exact test.ResultsBecause the implementation of this program, the number of new ovarian cancer cases remained constant (109–112 cases/year) but patients referred for genetic counseling increased annually from 37% to 43% to 96% (P < 0.05). The percentage of ovarian cancer patients who underwent genetic testing increased annually from 24% to 27% to 53% (P < 0.05). The number of new breast cancer patients was constant (1543–1638 cases/year). The percentage of patients with triple negative breast cancer referred for genetic counseling rose from 69% in 2013 to 91% in 2015; the percentage of patients who underwent testing increased annually from 59% to 86% (P < 0.05). Of women with breast cancer diagnosed at less than 45 years of age, 78% to 85% were referred for genetic counseling across this period; the percentage of patients who underwent testing increased annually from 66% to 82% (P < 0.05). Patient navigation was initiated and was available to all patients in the system during this period. Telemedicine consults were performed in 118 breast/ovarian patients (6%) during this period.ConclusionsA comprehensive program may improve access to effective genetic counseling services in patients with ovarian and breast cancer despite geographic barriers.

Tumor Biology ◽  
2017 ◽  
Vol 39 (2) ◽  
pp. 101042831769430 ◽  
Author(s):  
Mina Darooei ◽  
Subhadra Poornima ◽  
Bibi Umae Salma ◽  
Gayatri R Iyer ◽  
Akhilesh N Pujar ◽  
...  

Global burden of breast cancer is expected to increase to >2 million new cases every year by 2030 and 10% of these are likely to have hereditary breast and ovarian cancer syndrome. Identifying these individuals by pedigree and BRCA1/2 mutation analyses will enable us to offer targeted mutation testing and appropriate counseling. This study from a tertiary care hospital showed that of the 127 breast cancer patients on treatment during 2014–2015, 24 of them fulfilled the criteria of hereditary breast and ovarian cancer syndrome after detailed verbal autopsy and pedigree analysis, and BRCA1 and 2 next-generation sequencing done after pre-test counseling revealed mutations in 13 cases (54%), these included 9 BRCA1 mutations (69%) and 4 BRCA2 mutation (31%). Subsequent post-test counseling recommended targeted mutation analysis for 64 high-risk members in these 13 families with pathogenic mutations, which will help in surveillance for early detection, appropriate management, and prevention of the disease by decreasing the burden to both family and nation. Results from this preliminary study highlight the importance of genetic counseling, pedigree analysis, and genetic testing. It can be recommended that all oncology units should have a genetic counseling service for providing appropriate support to oncologists, patients, and families to prevent unnecessary testing; however, breast cancer screening program is incomplete without evaluating for hereditary breast and ovarian cancer syndrome.


2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 1545-1545
Author(s):  
Amy J Bregar ◽  
Terri Febbraro ◽  
Katina Robison ◽  
Jennifer Scalia Wilbur ◽  
Jessica Kent Laprise ◽  
...  

1545 Background: The National Comprehensive Cancer Network (NCCN) has established guidelines delineating appropriate candidates for genetic counseling. While genetic predisposition is responsible for a small percentage of cancer, genetic referral at diagnosis may effect treatment decisions. We aim to determine factors associated with timing of referral in women with breast and gynecologic cancers. Methods: Patients from an academic women’s oncology program were identified who met a subset of NCCN referral criteria for genetic evaluation between 2004-2010 (ovarian cancer at any age, breast cancer ≤ 50 years of age, or uterine cancer < 50 years of age). A retrospective chart review was conducted. Statistics were analyzed using SAS v. 9.2 (SAS Institute, Cary, NC); categorical variables were compared by chi-square or Fisher's exact test and continuous variables were compared by ANOVA. The study was approved by the hospital Institutional Review Board. Results: 820 women with cancer (26% uterine, 38% breast, 35% ovarian) were included. The overall referral rate was 22%; more breast than gynecologic cancer patients were referred (34% vs. 28%, p<0.0001). Breast cancer patients were more often referred at diagnosis compared to women with uterine (p<0.0001) and ovarian cancer (p=0.007). Early stage breast cancer patients were more often referred at diagnosis compared to women with late stages (p=0.03). Among ovarian cancer patients, those with late stages were more often referred at diagnosis compared to women with early stages (p=0.02). Age at diagnosis, family history, and parity were not associated with timing of referral. Among women with breast cancer, 26% of referred patients had a prophylactic contralateral mastectomy compared to 8% of those not referred (p<0.0001). Conclusions: Genetic counseling is underutilized in breast and gynecologic malignancies. The timing of referral varies widely and genetic counseling may impact treatment decisions. Breast cancer diagnosis, early stage breast cancer, and late stage ovarian cancer are associated with earlier referral for genetic evaluation. Further research is needed to determine additional factors that may increase referral rates and impact timing of referral.


2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13009-e13009
Author(s):  
Jessica Ross ◽  
Donna Bell ◽  
Angela R. Yarbrough ◽  
Susan K. Peterson ◽  
Sukh Makhnoon ◽  
...  

e13009 Background: Numerous studies have explored genetic testing access and benefits in adult and pediatric cancer patients, however little is known about the use of these services in adolescents and young adult (AYA) cancer patients. Routine genetic counseling may be particularly important for AYAs who are survivors of childhood cancer, as 8.5% of children with cancer have an inherited pathogenic germline variant. Genetic testing also helps reduce cancer morbidity and mortality in adolescents, as well as helps to guide cancer prevention strategies in family members. This study describes an innovative approach to fostering AYA patients’ access to genetic counseling services. Methods: AYA patients (ages 15-29) with a new or prior cancer diagnosis were referred to MD Anderson Cancer Center’s AYA multi-disciplinary clinic. Prior to their clinic visits, a genetic counselor reviewed relevant medical and family history information for patients seen from 7/12/18 through 1/11/19. For those at risk for a hereditary cancer syndrome, a recommendation for a genetic counseling referral was given to the AYA medical provider based on established guidelines, professional consensus, and clinical judgement guided by thorough literature reviews. Results: In total, 254 AYA patients’ charts were reviewed and 70 (27.6%) patients had histories that warranted a genetic counseling referral. Of these 70 patients, 53 (75.7%) were not previously seen by genetics. Of the 53 patients newly recommended to be referred, 29 (54.7%) had referrals placed. Of the 24 patients not referred, 17 did not attend their AYA visit, 5 refused the referral, and 2 were not referred for undetermined reasons. Of those referred, 10 completed genetic counseling, 14 are scheduled for counseling, 3 did not attend their appointment, and 2 had counseling at another institution. This process led to a 41.3% absolute increase in referrals to genetic counseling for those at risk for hereditary cancer syndromes. Conclusions: The described clinic workflow identified gaps in genetic referrals and showed an innovative approach to fostering AYA access to genetic services. This approach may be useful for other institutions interested in increasing access to genetic services for AYAs.


2020 ◽  
Vol 16 (12) ◽  
pp. e1462-e1470
Author(s):  
Melissa A. Simon ◽  
Julia R. Trosman ◽  
Bruce Rapkin ◽  
Sarah S. Rittner ◽  
Elizabeth Adetoro ◽  
...  

PURPOSE: Patient navigation uses trained personnel to eliminate barriers to timely care across all phases of the health care continuum, thereby reducing health disparities. However, patient navigation has yet to be systematized in implementation models to improve processes of care at scale rather than remain a band-aid approach focused solely on improving care for the individual patient. The 4R systems engineering approach (right information and right treatment to the right patient at the right time) uses project management discipline principles to develop care sequence templates that serve as patient-centered project plans guiding patients and their care team. METHODS: A case-study approach focused on the underserved patient shows how facilitators to timely breast cancer screening and care pragmatically identified as emergent data by patient navigators can be actionized by iteratively revising 4R care sequence templates to incorporate new insights as they emerge. RESULTS: Using a case study of breast cancer screening of a low-income patient, we illustrate how 4R care sequence templates can be revised to incorporate emergent facilitators to care identified through patient navigation. CONCLUSION: Use of care sequence templates can inform the care team to optimize a particular patient’s care, while functioning as a learning health care system for process improvement of patient care and patient navigation scaling. A learning health care system approach that systematically integrates data patterns emerging from multiple patient navigation experiences through in-person navigators and 4R care sequence templates may improve processes of care and allow patient navigation scaling to reduce cancer disparities.


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