Communication of genetic testing results and cascade testing among Mexican carriers of cancer-associated variants and their families.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13541-e13541
Author(s):  
Yanin Chavarri Guerra ◽  
Andrés Rodríguez-Faure ◽  
Laura Margarita Bolano Guerra ◽  
Jose Luis Rodriguez Olivares ◽  
Jazmin Arteaga ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Latin American ◽  
Family Involvement ◽  
Medical Information ◽  
Cancer Genomics ◽  
Family Members ◽  
Research Network ◽  
Community Research ◽  
Cascade Testing ◽  
Results Disclosure

e13541 Background: Most hereditary cancer syndromes exhibit autosomal dominant inheritance. Therefore, communicating results to family members and performing cascade testing is crucial in order to identify individuals at risk and offer them appropriate risk-reducing strategies. The process of communicating medical information within families is highly variable and might be affected by several factors (including culture, education, understanding of results, and family conflicts) which remain understudied among individuals living in developing countries. We sought to investigate communication of results and cascade testing reach within the families of Mexican individuals carrying cancer-associated pathogenic variants (PVs). Methods: Individuals seen at a single center in Mexico City carrying a cancer-associated PV and enrolled in the Clinical Cancer Genomics Community Research Network (CCGCRN) were included. Carriers received genetic counseling at the time of results disclosure, a family letter was provided to facilitate the communication of results, and cascade testing was offered. After >3 months from results disclosure, participants were surveyed regarding genetic testing results communication patterns, performance of cascade testing, and surveillance behaviors. Data was analyzed using descriptive statistics. Results: Among 354 probands, 53 (15%) were identified as carriers of a cancer-associated PV. Mean age was 48.3 (range 21-82) years. Cascade testing (≥1 family member) was initiated in 74% of families (n = 39), with a median of 3 (range 0-16) family members tested per proband. 53 carriers responded the survey (29 probands and 24 relatives). 98% (n = 43) had shared results with their family, and 53% (24/45) had shared them with their treating physicians. Most respondents were receiving active surveillance (n = 36, 80%); with 43% (n = 15) reporting having at least one barrier for complying with surveillance (financial: n = 8; distance to the hospital: n = 3). Around half of the carriers perceived their cancer risk to be of ≥50%. Conclusions: Our results show that both the communication of genetic testing results and the proportion of cascade testing within Mexican families are high. Family involvement in health care decision-making is common in Mexico, as in other Latin American countries, which might lead to improved family communication. However, strategies to improve communication with providers are needed in order to tackle barriers and improve surveillance of individuals carrying cancer associated PVs.

scholarly journals Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Josef S. Herzog ◽  
Yanin Chavarri-Guerra ◽  
Danielle Castillo ◽  
Julio Abugattas ◽  
Cynthia Villarreal-Garza ◽  
...  
Keyword(s):  
Latin America ◽  
Latin American ◽  
Cancer Genomics ◽  
Low Cost ◽  
Probability Model ◽  
Copy Number Variant ◽  
Research Network ◽  
Community Research ◽  
Brca1 And Brca2 ◽  
Pathogenic Variants

AbstractThe prevalence and contribution of BRCA1/2 (BRCA) pathogenic variants (PVs) to the cancer burden in Latin America are not well understood. This study aims to address this disparity. BRCA analyses were performed on prospectively enrolled Latin American Clinical Cancer Genomics Community Research Network participants via a combination of methods: a Hispanic Mutation Panel (HISPANEL) on MassARRAY; semiconductor sequencing; and copy number variant (CNV) detection. BRCA PV probability was calculated using BRCAPRO. Among 1,627 participants (95.2% with cancer), we detected 236 (14.5%) BRCA PVs; 160 BRCA1 (31% CNVs); 76 BRCA2 PV frequency varied by country: 26% Brazil, 9% Colombia, 13% Peru, and 17% Mexico. Recurrent PVs (seen ≥3 times), some region-specific, represented 42.8% (101/236) of PVs. There was no ClinVar entry for 14% (17/125) of unique PVs, and 57% (111/196) of unique VUS. The area under the ROC curve for BRCAPRO was 0.76. In summary, we implemented a low-cost BRCA testing strategy and documented a significant burden of non-ClinVar reported BRCA PVs among Latin Americans. There are recurrent, population-specific PVs and CNVs, and we note that the BRCAPRO mutation probability model performs adequately. This study helps address the gap in our understanding of BRCA-associated cancer in Latin America.

Enhancing access to genetic cancer risk assessment (GCRA) in Monterrey, Mexico: The beginning of a prevention program.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13150-e13150
Author(s):  
Dione Aguilar y Méndez ◽  
Jeffrey N. Weitzel ◽  
Kathleen Reilly Blazer ◽  
Danielle Castillo ◽  
Josef Herzog ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Reduction ◽  
Prevention Program ◽  
Cancer Genomics ◽  
Limited Resource ◽  
Research Network ◽  
Cancer Risk Assessment ◽  
Community Research ◽  
Cancer Center ◽  
Cascade Testing

e13150 Background: In limited-resource countries like Mexico, GCRA is not routinely provided due to elevated costs, lack of public coverage for testing and prophylactic surgeries, and limited GCRA expertise or awareness among providers and patients. Thus, GCRA services in Mexico are 20 years behind higher income countries, resulting in suboptimal care and limited opportunity for prevention. The Breast Cancer Center TecSalud established formal GCRA services for underserved patients by recruiting a cancer geneticist who provides care at no added expense to patients, building academic collaborations for training and research with City of Hope, and enabling free genetic testing through the Clinical Cancer Genomics Community Research Network, supported in part by the Breast Cancer Research Foundation. Aim: To report the uptake of the GCRA program by patients and relatives at TecSalud from January 2016 - December 2018. Methods: Eligibility includes Mexican women who meet hereditary breast cancer testing criteria and family members of mutation carriers. Risk reduction procedures are covered by Seguro Popular and/or the NGO Fundación Santos y de la Garza Evia. Results: GCRA was offered to 255 patients and 74 at risk relatives, with an increasing reach (proportion of those eligible who access the program). A significant growth of cascade testing and access to risk reduction surgery over time are noted. Conclusions: A growing number of referrals and GCRA visits shows improving reach, possibly due to engagement of the multidisciplinary team and increased patient awareness. The expansion of cascade testing and performance of risk-appropriate surgeries reflects a maturing prevention program. Key determinants of our progress are collaborations that provided us with crucial mentorship, access to genetic assays, as well as the increasing involvement of local leaders, administrators and benefactors for the establishment of vital clinical and research capacity. Multilevel efforts should continue to enhance the delivery of standard of medical care for the most vulnerable and underserved high-risk patients and families. [Table: see text]

scholarly journals Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network

2017 ◽  
Vol 216-217 ◽  
pp. 111-119 ◽  
Author(s):  
Thomas Slavin ◽  
Susan L. Neuhausen ◽  
Christina Rybak ◽  
Ilana Solomon ◽  
Bita Nehoray ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Cancer Genomics ◽  
Cancer Susceptibility ◽  
Research Network ◽  
Community Research ◽  
Clinical Cancer

Germline cancer susceptibility mutations in older women with breast cancer (BC).

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e13030-e13030
Author(s):  
Yanin Chavarri Guerra ◽  
Sharon Sand ◽  
Sandra Brown ◽  
Carolyn B. Hendricks ◽  
Mary Hander ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Older Women ◽  
Clinical Characteristics ◽  
Research Network ◽  
Community Research ◽  
Gene Variants ◽  
Risk Gene ◽  
Germline Variant ◽  
History Of

e13030 Background: Older women with BC are less likely to undergo genetic cancer risk assessment since a hallmark of hereditary BC is younger age at onset. Hence there are limited data regarding genetic risk assessment findings in older women with BC. We analyzed the clinical characteristics and germline variant profiles of women with history of BC referred for genetic counseling at age ≥ 65 years, enrolled in the Clinical Cancer Genomics Community Research Network registry. Methods: Women age ≥ 65 with a history of BC (invasive or ductal carcinoma in situ) who underwent genetic testing from 1997 to 2016 were included. The profile of those found to have BC-related pathogenic variants was analyzed. Demographic and clinical characteristics for those with and without germline variants were compared using Fisher’s test and x2statistics. Results: 1372 women age ≥ 65 with BC were identified. Genetic testing was performed in 75% (n = 1035), among whom 10.4% (n = 108) had a germline variant in a BC-associated gene. High risk gene variants accounted for 85.1% (n = 92): BRCA2 (41.6%, n = 45), BRCA1 (37%, n = 40), PALB2 (5.5%, n = 6) and TP53 ( < 1%, n = 1). Moderate risk gene variants were identified in 16.6% (n = 18): CHEK2 (13.8%, n = 15), ATM (1.8%, n = 2) and NF1 ( < 1%, n = 1). Mean age at BC diagnosis was 56.4 (range 29 - 84) for women with variants and 60.9 (range 20 - 90) for those without (p < .001). 25.9% of women with variants (n = 28) had their first BC diagnosed ≥ age 65, of which 60.7% (n = 17) were BRCA2 and 21.4% (n = 6) were BRCA1 mutations ( BRCA2 was significantly higher in women diagnosed with BC age ≥ 65 [p < .001]). There was no difference in the mean number of 1st, 2nd and 3rd degree relatives with BC (2.4 [range 0-10] vs 2.2 [range 0-15]) for women with and without variants, respectively, and no difference in stage at diagnosis (Stage I-II in 95% vs 89.5%, p = .4). Women with variants were less likely to have ER/PR positive tumors than those without (66% vs 81.6%, p = .01). Conclusions: BC related susceptibility variants, particularly in BRCA2, are found in a significant number of older women undergoing genetic testing for a first diagnosis of BC ≥ 65. Older women with a clinical suspicion of hereditary BC should not be excluded from genetic testing and counseling based on chronological age alone.

Maintaining access to genomic cancer risk assessment (GCRA) during the COVID-19 pandemic using telemedicine in a resource-limited setting.

2021 ◽  
Vol 39 (28_suppl) ◽  
pp. 286-286
Author(s):  
Yanin Chavarri Guerra ◽  
Maria Fernanda Ochoa Chavez ◽  
Andrés Rodríguez-Faure ◽  
Alfredo Pherez Farah ◽  
Enrique Soto Perez De Celis ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Risk Reduction ◽  
Cancer Genetics ◽  
Resource Limited Setting ◽  
Research Network ◽  
Phone Call ◽  
Community Research ◽  
Resource Limited ◽  
Family Medical History ◽  
Limited Setting

286 Background: COVID-19 has disrupted cancer care services globally, and particularly in low- and middle-income countries. The cancer genetics clinic at Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán has provided GCRA for over 1000 underserved Mexican patients with cancer since 2017 through a collaboration with the Clinical Cancer Genomics Community Research Network (CCGCRN). During the COVID-19 pandemic, in-person clinic visits were suspended, and telemedicine emerged as a potential way to provide GCRA while reducing the risk of COVID-19. Here, we report our experience using telemedicine to provide GCRA in a resource-limited setting. Methods: During the COVID-19 pandemic, new patients meeting criteria for GCRA were invited to join the CCGCRN via phone call. Candidates received detailed information regarding the protocol procedures and multigene genetic testing. Those who accepted were sent an electronic consent form, family medical history forms, and risk reduction questionnaires to be completed before their appointment. Blood testing was performed during a short visit to the hospital, or mailed by the patient. Patients who had already received GCRA and genetic testing prior to the start of the pandemic were contacted to cancel their in-person appointment and to schedule a telemedicine visit. According to patient preferences and availability, results were disclosed via phone call, video call, or teleconferencing software employing end-to-end encryption communication apps. Results: Between July 2020 and May 2021, 273 new patients fulfilling GCRA criteria were invited to the CCGCRN protocol. Median age at the time of enrollment was 44 years (range 27-66), 87% (n = 237) were women, and 68% (n = 187) had a personal history of cancer (90% breast). Eighty-three percent of new patients (n = 227) completed all the protocol procedures. Median length of the enrollment phone call was 10 minutes (range 4-71 min). During the same period, 439 genetic testing results (including those of patients who received GCRA before the pandemic and of new patients) were disclosed: 356 were negative and 83 had a pathogenic variant (PV). Ninety-nine percent of patients with negative testing received their results via phone call, and 96% were sent a digital written report. For patients with a PV, 80% of results were disclosed via videoconferencing platforms (WhatsApp or Zoom). All patients with PV were sent a digital written report, risk reduction and early detection recommendations, a family letter, and specific PV information. Conclusions: Providing access to GCRA and testing using readily-available telemedicine platforms proved feasible in a resource-limited setting during the COVID-19 pandemic. Our results show that telemedicine represents an excellent method to identify, recruit, and test patients meeting criteria for GCRA, and to provide genetic testing results.

Evaluation of proband adherence and satisfaction with a prospective cascade testing protocol.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10593-10593
Author(s):  
Maria Smith ◽  
Kristina Hwang ◽  
Julia Anne Smith ◽  
Bhavana Pothuri
Keyword(s):  
Genetic Testing ◽  
Family Members ◽  
Germline Mutations ◽  
Impact Of Event Scale ◽  
Cancer History ◽  
Event Scale ◽  
Cascade Testing ◽  
Cancer Breast ◽  
Education Status ◽  
Household Incomes

10593 Background: We sought to evaluate the feasibility of a Cascade Testing (CT) protocol for family members of probands with actionable germline mutations associated with endometrial or ovarian cancer. Here, we characterize proband compliance with contacting family members for CT and proband satisfaction/regret. Methods: In this prospective study, consenting patients with pathogenic germline mutations associated ovarian or endometrial cancer completed a demographic survey and were asked to contact first- and second-degree relatives with genetic testing results. After a 1–3-month period, probands completed a survey indicating how many relatives had been contacted. At 3 months following consent, probands were asked to complete the validated Impact of Event Scale (IES) and Decision Regret Scales (DRS). Characteristics of probands who contacted relatives and those who did not were compared. Results: The study has accrued 57 probands since opening in March 2019. Germline mutations identified in the 57 probands include 27 BRCA1 (47.4%); 21 BRCA2 (36.8%); 3 BRIP1 (5.3%); 2 MLH1 (3.5%); 2 MSH2 (3.5%); 3 MSH6 (5.3%); 3 PMS2 (5.3%); 1 EPCAM (1.8%); 1 RAD50 (1.8%). Twenty-four (42.1%) probands had a history of cancer (breast 12; ovarian 8; uterine 2; other 5). Of the probands, 32 (56.1%) completed follow-up questionnaires and 29 (50.9%) had contacted relatives about participating in CT. In total, 67 relatives were contacted. Probands contacted an average of 1 relative, ranging from 1-20. Of the 29 probands who contacted relatives, 13 (44.8%) completed IES and DRS questionnaires. The median IES score was 0 out of 75 (IQR 0.0-4.5) and the median DRS score was 0 out of 100 (IQR 0.0-11.3). When comparing characteristics of probands who contacted relatives with those who did not, those with annual household incomes <$75,000 were more likely to contact relatives vs those with incomes ≥$75,000 (77.8% vs 39.5%; p=0.01). There was no association between contacting relatives and personal cancer history, race/ethnicity, education status, or age (Table). Conclusions: Half of probands enrolled in this study contacted relatives about CT, and those with household incomes <$75,000 were more likely to contact relatives than those with higher incomes. Overall, probands reported little/no regret or distress after contacting relatives about genetic testing results.[Table: see text]

Germline mutation profile among Hispanic women with epithelial ovarian cancer (EOC).

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1584-1584
Author(s):  
Yanin Chavarri Guerra ◽  
Jeffrey N. Weitzel ◽  
Kathleen Reilly Blazer ◽  
Thomas Paul Slavin ◽  
Rosa Mejia ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Cancer Genomics ◽  
Research Network ◽  
Cancer Risk Assessment ◽  
Community Research ◽  
Underrepresented Populations ◽  
Similar Frequency ◽  
Mutation Profile ◽  
Brca1 Brca2 ◽  
The U.S

1584 Background: Hospital-based studies have reported a 15% prevalence of BRCA1/ BRCA2( BRCA) mutations, with a slightly higher yield of other predisposition genes on multigene panel testing (MGPT) among women with EOC, and National Comprehensive Cancer Network guidelines recommend genetic cancer risk assessment for women with EOC. However, there is limited data about the genetic epidemiology of EOC among underrepresented populations, such as Hispanics. Consequently, we determined the germline mutation profile of Hispanics with EOC, and compared them with non-Hispanics. Methods: We included all women with a personal history of EOC from the U.S. and Latin America (LatAm; Mexico, Colombia, and Peru), enrolled in the Clinical Cancer Genomics Community Research Network registry. We assessed the prevalence of pathogenic variants (PV) in BRCA1/ BRCA2( BRCA) and other genes, contrasting the germline mutation profile between Hispanics living in LatAm, U.S. Hispanics, women of Ashkenazi Jewish (AJ) ancestry in the US, and other U.S. non-Hispanics. Results: Among 1186 women with EOC (209 from LatAm, 254 U.S. Hispanics l, 78 AJ, and 645 other non-Hispanic), 262 (22%) had a PV in BRCAgenes. Hispanics from LatAm and the U.S. had a similar frequency of BRCAmutations to AJ (30.6%, 29.9%, and 38.4%, respectively; p = 0.14); while non-Hispanics showed a significantly lower frequency of BRCAmutations (14.2%, p = 0.03). The most frequently mutated gene was BRCA1(n = 197, 74.6%), followed by BRCA2(n = 67, 25.3%). Among BRCA-negative cases (n = 924), 59% (n = 545) were evaluated by MGPT and PVs were identified in 2.9% [6 Hispanics (1.2%), 3 AJ (3.8%) and 26 Non-Hispanics (4%)]), of which 66% (n = 23) were in mismatch repair genes ( MSH2, MLH1, MSH6, PMS2), and 34% (n = 12) in other EOC-associated genes ( BRIP1, NBN, PALB2, RAD51C, and RAD51D). Clinically actionable PVs in ATM (n = 4; 0.3% ) and CHEK2 (n = 6; 0.5% ) were also observed. Conclusions: Hispanics with EOC have an elevated frequency of PV, similar to that of classic founder populations such as AJ, and significantly higher than other non-Hispanics. This is partially explained by a high prevalence of recurrent LatAm-specific PV, highlighting the importance of conducting genetic studies in underrepresented populations. There was modest incremental benefit of MGPT.

Genetic, clinical and pathological characteristics of BRCA-associated breast cancer (BC) in Hispanic patients in the United States (US) and Latin America (LatAm).

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1539-1539
Author(s):  
Yanin Chavarri Guerra ◽  
Sharon Sand ◽  
Marcia Cruz Correa ◽  
Pamela Ganschow ◽  
Nancy Cohen ◽  
...  
Keyword(s):  
Cancer Genomics ◽  
Hispanic Women ◽  
The United States ◽  
Research Network ◽  
Community Research ◽  
Brca Mutations ◽  
Younger Age ◽  
The Us ◽  
Hispanic Patients ◽  
History Of

1539 Background: Hispanic women with BC present at a younger age, have a higher frequency of BRCA mutations and show a worse incidence-to-mortality ratio than non-Hispanic women. Information regarding the characteristics of BRCA-associated BC in Hispanics is limited. Here, we assess differences in BRCA-associated BC between Hispanic patients in the US and in LatAm. Methods: Hispanic patients from the US and LatAm (Mexico, Colombia, Peru, and Puerto Rico) with a history of BRCA-associated BC enrolled in the Clinical Cancer Genomics Community Research Network registry were included. We compared the genetic, demographic, clinical and pathologic characteristics between Hispanics from the US and LatAm using Fisher’s exact test and x2statistics. Results: Between 1997 and 2016, 3670 Hispanic patients with a history of BC from LatAm (n = 1341) and the US (n = 2329) were identified, of which 490 (13.3%) had a deleterious BRCA mutation. The frequency of BRCA mutations was similar in Hispanics from LatAm (13.8%, n = 185) and the US (13.1%, n = 305). No significant differences were found in the frequency of BRCA1 vs BRCA2 mutations between patients from LatAm (BRCA1 68%, BRCA2 31.8%) and the US (BRCA1 61.3%, BRCA2 39%) (p = .12). The most frequent mutations found in BRCA1 were: ex 9-12del (LatAm n = 24, US n = 15), 185delAG (LatAm n = 13, US n = 18) and 943ins10 (LatAm n = 3, US n = 8), and in BRCA2 3492insT (LatAm n = 3, US n = 28). Mean age at BC diagnosis was 39.1 (SD 9.5) in LatAm and 41.7 (SD 10.6) in the US (p = 0.01). US patients were significantly more likely to present with Stage 0-II BC than those from LatAm (77.1% vs. 47.6%, p < .001). We found no differences in the proportion of hormone receptor positive tumors between patients from LatAm (45%) and the US (47%) (p = .78). Conclusions: The frequency of BRCA-associated BC was similar between Hispanics in LatAm and the US. Women from LatAm with BRCA mutations present at a younger age, as seen for sporadic BC; the causes for this finding warrant further research. Women with BRCA-associated BC in LatAm are more likely to have advanced BC at presentation, which may be a reflection of disparities and barriers in access to care.

scholarly journals 當代中國家庭醫療決策的倫理策略——一個有關家庭醫療決策的案例研究

2017 ◽  
Vol 15 (2) ◽  
pp. 21-41
Author(s):  
Guobin CHENG
Keyword(s):  
Decision Making ◽  
Family Involvement ◽  
Filial Piety ◽  
Medical Information ◽  
Family Members ◽  
Confucian Ethics ◽  
Medical Decision ◽  
Medical Decisions ◽  
The Family ◽  
Family Decision

LANGUAGE NOTE | Document text in Chinese; abstract also in English.在當代中國家庭醫療決策過程存在以下幾個特點：第一，病人的自主權並未完全消失，但其實現程度和方式受到了諸多限制；第二，對病人的行為能力和權利限度的判斷上存在家長主義和後果論的特徵，在一定程度上構成了對病人權利的剝奪；第三，病人的最大利益和個人意願仍然是決策依據的重要方面，但對這兩者的解讀體現出了偏重客觀利益和共用價值觀的特點，又受到家庭具體權力結構的影響。在家人做出最終決策的形式背後隱藏著諸多豐富的細節，家庭醫療決策是一個傳統與現代、家庭與個人價值觀共同作用的複雜過程，用任何一個單一的理論模型都很難說清它的本來面貌。This essay points out that informed consent in China today is often replaced by the “family decision” model, which is designed to embody Confucian family ethics and maximize the benefit of family involvement in medical decision making. The author, a physician, uses a specific case he encountered when treating an elderly woman with late-stage colon cancer. Because the patient did not know the whole truth of her condition, most of the medical decisions regarding her treatment were made by her children. Ideally speaking, a “family decision” means that both the patient and his/her close family members will be involved in the decision-making process. Yet, the author’s experiences show that in most cases, decision-making responsibilities shift from the patient to the family, especially when the patient is an elderly parent. Theoretically speaking, the Confucian ethics of humanness (ren) and filial piety (xiao) support family as the most appropriate authority for medical decisions. However, in reality, the author finds that this could be problematic when family members hide medical information from the patient—sometimes with cooperation from the physician. The essay recommends that more respect and autonomy should be given to the patient if the “family decision” policy is truly implementedDOWNLOAD HISTORY | This article has been downloaded 202 times in Digital Commons before migrating into this platform.

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