Cascade genetic testing: an underutilized pathway to equitable cancer care?

The Precision Medicine Initiative was launched upon the potential of genomic information to tailor medical care. Cascade genetic testing represents a powerful application of precision medicine and involves the process of familial diffusion or the "cascade" of genomic risk information. When an individual (proband) is found to carry a cancer-associated germline pathogenic mutation, the information should be cascaded or shared with at-risk relatives. First degree relatives have a 50% likelihood of carrying the same cancer-associated mutation. This process of cascade testing offers at-risk relatives the opportunity for genetic testing and, for those who also carry the cancer-associated mutation, genetically targeted primary disease prevention through intensive cancer surveillance, chemoprevention and risk-reducing surgery, reducing morbidity and preventing mortality. Cascade testing has been designated by the Centers for Disease Control and Prevention as a Tier 1 genomic application for hereditary breast and ovarian cancer. In this manuscript we describe a cascade genetic testing and in particular focus on its potential to provide necessary care to medically underserved and vulnerable populations.

Experiences of Family Communication and Cascade Genetic Testing for Hereditary Cancer in Medically Underserved Populations-A Qualitative Study.

We sought to explore the intrafamilial communication and cascade genetic testing (CGT) experiences of patients with hereditary cancer from diverse, medically underserved populations and their relatives. Participants included patients receiving oncology care at an urban, safety net hospital in Texas or comprehensive cancer center in Alabama and their first-degree relatives. In-depth semi-structured qualitative interviews were completed wherein patients shared their experiences with genetic counseling (GC), genetic testing (GT), and communicating their results to relatives. Relatives shared their experiences receiving information from the patient and considering CGT. Interviews were transcribed, coded, and themes were identified. Of 25 participating patients, most recalled key aspects of GC and their GT results. Most (80%) patients shared their results with relatives, but only some relatives underwent CGT; patients reported low perceived susceptibility to hereditary cancer as a common barrier to CGT for their relatives. Of 16 participating relatives, most reported feeling distress upon learning the patient's GT results. Relatives were fearful of learning their own CGT results but identified prevention and early detection as CGT benefits. Interviews identified opportunities during family communication to improve relatives' perceived susceptibility to hereditary cancer. Tailored resources may support patients and relatives experiencing distress and fear during GT. PREVENTION RELEVANCE: This study of intrafamilial communication and cascade genetic testing experiences of patients with hereditary cancer and their relatives from diverse, medically underserved populations identified relatives' perceived susceptibility to hereditary cancer risks, distress, and fear as frequent reactions and barriers to testing. These results may inform future hereditary cancer prevention efforts.

Physical Activity among Colorectal Cancer Patients and Survivors in Egypt.

INTRODUCTION: Understanding physical activity (PA) levels is important when developing tertiary cancer prevention interventions, especially in Egypt where colorectal cancer (CRC) is more often diagnosed at later stages and at a younger age of onset (≤40 years). METHODS: We assessed PA levels among CRC patients and survivors in Alexandria, Egypt. All participants completed two self-reported PA assessments: Global Physical Activity Questionnaire (GPAQ) and Godin Leisure-Time Exercise Questionnaire (GLTEQ). Participants could opt to wear an accelerometer for seven days. Results were compared against WHO recommendations of ≥150 minutes or ≥600 metabolic equivalents of tasks (METs) of moderate-to-vigorous PA weekly. RESULTS: Of 86 participants enrolled, all completed the surveys and 29 agreed to accelerometer use. Prevalence of meeting PA recommendations was 62.8% based on the GPAQ, 14.0% based on GLTEQ, and 41% based on accelerometer. Based on the GPAQ, very few respondents reported vigorous occupational, vigorous recreational, or moderate recreational activity (median = 0 with interquartile range [IQR] of 0 - 0 weekly minutes for all three) while most activity resulted from moderate occupational and transportation (median [IQR] of 60 [0-840] and 60 [0-187.5] weekly minutes, respectively). Participants meeting PA recommendations were less likely to be married (p = 0.043) according to GPAQ and more likely to be female (p=0.047) and early cancer stage (p=0.007) by GLTEQ. CONCLUSION: Non-leisure free-living PA is a major contributor to meeting PA recommendations while leisure-time PA is a potential target for future interventions that increase PA in this population.

Examining Racial/Ethnic and Income Disparities on Tobacco Product Use Among US Adults Within Wave 5 of the PATH Study.

OBJECTIVE: The aim of this study was to examine the interactions between race/ethnicity and income across different types of tobacco products. METHODS: The prevalence of past 30-day use of cigarettes, traditional cigars, cigarillos, filtered little cigars, and electronic nicotine delivery systems (ENDS) among adults was examined by race/ethnicity and income levels based on wave 5 (2018-2019) data of the Population Assessment of Tobacco and Health study. RESULTS: Multivariate analysis across race/ethnicity and income showed that, although non-Hispanic Blacks (NHBs) were significantly more than likely to smoke cigarettes than non-Hispanic Whites (NHWs) at low- and high-income levels, such disparity only applied to low-income Hispanics compared with low-income NHWs. NHBs were significantly more likely to smoke traditional cigars, cigarillos, and filtered little cigars than NHWs at low and high incomes. No differences were found between Hispanics and NHWs with regard to traditional cigars and cigarillos. However, low-income Hispanics were significantly less likely to smoke filtered little cigars than NHWs, whereas high-income Hispanics were more likely to do so than NHWs. With regard to ENDS, significant differences were only found at the low-income bracket with NHBs and Hispanics being less likely to smoke these products than NHWs. CONCLUSIONS: Our findings highlight significant interactions between race/ethnicity and income in the use of tobacco products, suggesting that income should be taken into account when designing interventions targeting different racial/ethnic groups.

An Update on Human Papillomavirus Vaccination in the United States.

Cervical cancer remains a significant disease in the United States. Although the human papillomavirus (HPV) vaccine has been approved for those aged 9-26 years and for some individuals up to age 45 years, there are many circumstances in which health care professionals may not know whether the vaccine should be recommended, such as for patients with previous infection, health care workers, and those older than age 26 years. This article highlights the evidence that the HPV vaccine is a safe and highly effective way to prevent cervical cancer, with the strongest predictor of vaccine uptake being practitioner recommendation.

Increased disparities associated with black women and abnormal cervical cancer screening follow-up.

Background: To determine whether race and ethnicity impacts patient adherence to follow-up for colposcopy after abnormal cervical cancer screening. Methods: This retrospective chart review included women that were randomly selected from patients presenting to our colposcopy clinic from 1/2019 to 12/2019. Inclusion criteria were females age ≥21 years-old and appropriate referral for colposcopy. Patients were grouped into three categories: (1) ADHERENT to follow-up if they came to their first scheduled appointment; (2) DELAYED if they presented more than three months from their original referral (usually missing 1-3 appointments); and (3) NOT ADHERENT if they did not show for their appointment after referral. Analysis was performed using SPSS v.26. Results: 284 women met inclusion criteria for the study. The majority of women were Black (65.2 %) followed by non-Hispanic Whites (20.0 %) and Latinx (14.8 %). Overall, 39.1 % were ADHERENT, 18.6 % were DELAYED, and 42.3 % were NOT ADHERENT. When compared with non-Hispanic White women, there was a significant difference between race/ethnicity and timing of follow-up (p = 0.03). Blacks were more likely to be NOT ADHERENT (45.9 %; p = 0.03), and Latinx and Blacks were the most likely to be DELAYED (35.7 % and 21.1 %; p = 0.03). Private insurance patients were more likely to be ADHERENT for care compared with un-/underinsured patients (78.9 vs 27.8 %, p = 0.0001). Conclusion: There is inadequate follow-up after abnormal cervical cancer screening across all races/ethnicities; however, lack of adherence is higher in Black patients. Moreover, 25% of Hispanic and Black women present in a delayed fashion. Culturally relevant assessments and interventions are needed to understand and address these gaps.

A Framework for Equitable Partnerships to Promote Cancer Prevention and Control in Rural Settings.

Rural populations continue to experience persistent cancer disparities compared with urban populations particularly in cancers that can be prevented or detected early through screening and vaccination. Although the National Cancer Institute and the larger cancer research community have identified rural community partnerships as the foundation for reducing the disparities, we have identified limited application of community-based participatory research in cancer prevention and control research. Guided by the Community-Based Participatory Research Conceptual Model and our collective experience, we provide a framework for a community-cancer center partnership that focuses on promoting health equity. In this commentary, we articulate that the partnership process must foster capacity for communities and cancer centers, strive for rural representation in clinical trials and biobanking, build a pipeline for dissemination and implementation research, and create a bidirectional flow of knowledge between communities and academic institutions. Authentic partnerships with rural communities should be the ultimate goal of cancer centers, and the process described in this commentary can serve as an initial platform to build capacity and continue to strive toward that goal.

Efficacy of a Gender-Relevant Smoking Cessation Intervention Among Women in Brazil: Findings from a Group Randomized Controlled Trial.

Background: There is scarcity of smoking cessation programs that take gender into account during its development, implementation, and evaluation. We evaluated the efficacy of a theory-based, culturally, and gender-relevant smoking cessation intervention delivered by Community Health Workers (CHWs) among Brazilian women that augments the smoking cessation program offered through the public health system (PHS). Materials and Methods: A total of 328 women current smokers (100% cigarette smokers) were recruited across 8 towns in a tobacco producing state in Brazil between 2014 and 2017. Four towns were randomly assigned to the intervention (12 home visits by a CHW and a scheduled appointment to attend the smoking cessation program at the PHS) and four towns to the control condition (scheduled appointment to attend the cessation program at the PHS). The primary outcome was self-reported 7-day smoked tobacco abstinence at 7-month follow-up with biochemical verification. Results: Retention at 7-month follow-up was 80.7% (intervention) and 85.1% (control). Using intention-to-treat analysis, abstinence at 7-month-follow-up was 20% in the intervention arm versus 11% in the control arm. Multivariable modeling showed that participants in the intervention arm had 1.88 times the odds of self-reported smoking cessation than control participants after adjustment for depressive symptomatology, self-efficacy, and having someone in the house who smokes. Besides the intervention, only self-efficacy remained significant in the full model as a predictor of cessation. Replication of these analyses using the objective measure of carbon monoxide at a cutoff score of 8 ppm yielded similar results. Conclusions: A theory-based, culturally, and gender-relevant intervention, delivered by CHWs, can successfully promote smoking cessation among women. Clinical Trial Registration No. NCT03845413.

Attitudes toward telemedicine among urban and rural residents.

INTRODUCTION: Adoption of telemedicine by healthcare facilities has dramatically increased since the start of coronavirus pandemic; yet, major differences exist in universal acceptance of telemedicine across different population groups. The goal of this study was to examine population-based factors associated with current and/or future use of telemedicine in Alabama. METHODS: A cross-sectional survey was administered to 532 participants online or by phone, in four urban and eight rural counties in Alabama. Data were collected on: demographics, health insurance coverage, medical history, access to technology, and its use in accessing healthcare services. Generalized logit regression models were used to estimate the odds of choosing "virtual visit" and "phone communication" compared to "in-person visit" for the preferred choice of visit with the healthcare provider; as well as odds for willingness to participate in "virtual visit" in the future. RESULTS: Our study sample had a mean age of 43 (±15) years, 72.9% women, 45.9% Black or African American; 59.4% population living in an urban county. The odds of "phone communication" were higher compared to the odds of "in-person visit", with a unit increase in age (odds ratio: 1.02, 95% confidence interval: 1.00-1.03), after adjusting for other covariates. Among participants with past experience of virtual communications, the odds for choosing "virtual visit" were significantly higher compared to choice of in-person visit (odds ratio for virtual visit: 3.23, 95% confidence interval: 2.01-5.18), adjusted for other covariates. Further, people with college or more education were 71% less likely to choose "No" compared to those with high school or lower general education development education for future virtual visit [odds ratio for college or more: 0.29, 95% confodence interval: 0.10-0.87). Likewise, participants residing in rural counties were 57% less likely to choose "No" compared to urban counties for future virtual visit (odds ratio for rural participants: 0.43, 95% confidence interval:0.19-0.97). DISCUSSION: Our study found notable differences in age, education, and rurality for use and/or preference for telemedicine. Medical institutions and healthcare providers will need to account for these differences to ensure that the implementation of telemedicine does not exacerbate existing health disparities.

Willingness to participate in various nontherapeutic cancer research activities among urban and rural African American and Latinx healthy volunteers.

PURPOSE: Inclusion of racial/ethnic minorities in cancer research can reduce disparities in health outcomes; however, data regarding barriers and motivators to participation are sparse. This study assessed African American (AA) and Latinx healthy volunteers' perspectives regarding willingness to participate in noninvasive and invasive research activities. METHODS: Using a 38-item questionnaire adapted from the Tuskegee Legacy Project Questionnaire, we assessed willingness to participate in 12 research activities, offering 27 possible barriers and 14 motivators. The sample was segmented into four subgroups by AA/Latinx and rural/urban. RESULTS: Across five states and Puerto Rico, 533 participants completed questionnaires. Overall, participants were more willing to participate in noninvasive versus invasive procedures, although, all subgroups were willing to participate in research if asked. Rural AA were most willing to complete a survey or saliva sample, while rural Latinx were least willing. Urban AA were least willing to provide cheek swab, while rural counterparts were most willing. Self-benefit and benefit to others were among the top three motivators for all subgroups. Curiosity was a primary motivator for urban AA while obtaining health information motivated rural Latinx. Primary barriers included fears of side effects and being experimented on, lack of information, and lack of confidentiality. CONCLUSIONS: Latinx and AAs are willing to participate in the continuum of nontherapeutic research activities suggesting their lack of participation may be related to not being asked. Inclusive enrollment may be achieved by assessing needs of participants during the design phase of a study in order to reduce barriers to participation.

Barriers and facilitators affecting presentation in women with early versus advanced stage cervical cancer.

Background: This study was performed to evaluate the barriers and facilitators associated with patient presentation for early stage (ES) versus advanced stage (AS) cervical cancer (CC). Methods: A mixed-method approach was used to collect quantitative (i.e., demographics and medical/screening histories) and qualitative data (individual interviews assessing patients' perceptions regarding their general health, HPV and CC screening, and barriers and facilitators to CC care). Two separate investigators coded the interviews for major themes that occurred with an agreement that 50% or more of the themes would be included. Results: Twenty-five women agreed to participate in the study with 80% completing the interview. Patients with ES disease were classified as Stage IA1-Stage IB3; patients with Stage IIA-IVB disease were classified with AS disease. Frequent barriers in the ES group were lack of knowledge, competing priorities, feeling healthy, lack of time or health insurance, and being embarrassed/uncomfortable. Frequent barriers in the AS group were lack of knowledge, competing priorities, avoidance/procrastination, fear of the healthcare system or finding something wrong, and lack of perceived risk to CC. Facilitators for ES included understanding the importance of the Pap test, having an abnormal Pap test, and knowing someone with CC. Having abnormal symptoms was the only facilitator for AS patients. Conclusions: Structural and intrapersonal barriers to CC care persist but differ between ES and AS patients. Multi-level interventions are needed to address the wide array of issues that women highlighted in this study including potential innovative methods to increase access to care and engagement with the healthcare system.

Assessing Hispanic/Latino and Non-Hispanic White Social Determinants of Obesity Among a Community Sample of Residents in the Rural Southeast US.

Employing an ecological approach, we sought to identify social determinants of obesity among Hispanics/Latinos and non-Hispanic whites living in the Southeast US. Data on social determinants of obesity (individual, family, community and cultural/contextual) were collected from 217 participants [106 Hispanics/Latinos; 111 non-Hispanic whites]; height and weight  were objectively measured. We compared prevalence of overweight and obese between ethnic groups and BMI values within each group by social determinants. Hispanics had a 1.9-fold increase (OR 1.93, 95% CI: 1.05-3.55) in overweight prevalence compared to non-Hispanic whites after adjusting for age and gender. We found positive estimates between unfavorable family-level determinants and BMI among Hispanic/Latinos. In contrast, non-Hispanic whites who reported unfavorable neighborhood characteristics had higher BMI's. Findings highlight the need for targeted approaches for the prevention and control of obesity.

Understanding the surgical experience for Black and White patients with inflammatory bowel disease (IBD): The importance of health literacy.

BACKGROUND: Racial/ethnic disparities in outcomes exist for patients with inflammatory bowel disease (IBD) undergoing surgery. The underlying mechanism(s) remain unclear and patient perspectives are needed. We therefore aimed to characterize the surgical experience for Black and White IBD patients using qualitative methods. METHODS: Patients with IBD who had undergone surgery were recruited to same-race qualitative interviews. Semi-structured interviews explored barriers and facilitators to a positive or negative surgical experience. Transcripts were analyzed with NVivo 12 software. RESULTS: Six focus groups were conducted that included 10 Black and 17 White IBD participants. The mean age was 44.8 years (SD 13.2), 52% were male and 65% had Crohn's disease. Four themes emerged that most defined the surgical experience: the impact of the IBD diagnosis, the quality of provided information, disease management and the surgery itself. Within these themes, barriers to a positive surgical experience included inadequate personal knowledge of IBD, ineffective written and verbal communication, lack of a support system and complications after surgery. Both groups reported that information was provided inconsistently which led to unclear expectations of surgical outcomes. CONCLUSIONS: Black and White patients with IBD have varied surgical experiences but all stressed the importance of accurate, trustworthy and understandable health information. These findings highlight the value of providing health literacy-sensitive care in surgery.

Latinx Immigrant Mothers' Perceived Self-Efficacy and Intentions Regarding Human Papillomavirus Vaccination of Their Daughters.

OBJECTIVE: Racial and ethnic disparities persist in cervical cancer cases, 90% of which are caused by the human papillomavirus (HPV). Suboptimal vaccine uptake is problematic, particularly among Latinx women, who have the highest cervical cancer incidence compared with other racial/ethnic groups. We examined the association of self-efficacy and HPV vaccination intention among Latinx immigrant mothers of unvaccinated 9- to 12-year-old girls. METHODS: An interviewer-administered survey assessed baseline sociodemographic information, knowledge and perceived risk of cervical cancer and HPV, self-efficacy, and intention to vaccinate among 313 Latinx immigrant mothers in Alabama from 2013 to 2017 before the implementation of an intervention to promote HPV vaccination. RESULTS: Participants were, on average, 35 years old, with 9 years of education, and had lived in the United States for 12 years. Mothers who perceived their daughters were at risk of HPV infection were more likely to be vaccine intent than their hesitant counterparts (p < .001). Vaccine hesitancy was more common in those with lower education, low HPV and cervical cancer knowledge, and lower perceived self-efficacy scores (p < .001). Self-efficacy was associated with vaccine intention when controlling for other variables (p < .001). The only variable associated with self-efficacy was HPV awareness (p = .001). CONCLUSIONS: Programs promoting HPV vaccination among Latinx immigrants should include educational components regarding risks of HPV infection and cervical cancers in addition to information regarding access to vaccination services. Knowledge of risks and access may heighten perceptions of self-efficacy and improve vaccine uptake among this population.

Misoprostol and estradiol to enhance visualization of the transformation zone during cervical cancer screening: An integrative review.

The purpose of this integrative literature review was to appraise studies conducted worldwide using misoprostol and estradiol in converting Type 3 transformation zone (TZ) of the cervix into Types 1 or 2 and to assess which regimen could be more feasible in low-and-middle-income countries (LMICs). We reviewed the English language literature for peer-reviewed studies that evaluated strategies to convert Type 3 TZs to Types 1 or 2 for cervical cancer screening. Web of Science and PubMed searches were performed up to July 2020. Search terms included: "cervical colposcopy," "inadequate colposcopy", "cervical cancer screening", "transformation zone," "estrogen", "estradiol", and "misoprostol." Inclusion criteria were articles published in the English language, original research, and peer reviewed articles. A total of 127 articles were abstracted, 24 articles were reviewed, and 9 articles met all inclusion criteria. We found that intravaginal misoprostol, intravaginal estradiol, and oral estradiol can successfully convert Type 3 TZ to Types 1 or 2. A single dose of vaginal misoprostol had a similar maximum response rate (20-80%) to a multi-dose regimen over several days or weeks of both intravaginal estradiol (64-83%) and oral estradiol (50-70%). Misoprostol administration was associated with more side effects such as abdominal cramping and vaginal bleeding compared to estradiol, although these were generally mild. In conclusion, Oral estradiol, intravaginal estradiol, and intravaginal misoprostol can be used to convert Type 3 TZ to Types 1 or 2. Intravaginal misoprostol is well tolerated and more feasible in LMICs due to availability and shorter treatment schedule compared to oral or intravaginal estradiol.

Oncology Patient Smoking Cessation Treatment Preferences: Perceptions Across Former and Current Cigarette Smokers.

Although the benefits of smoking cessation following a cancer diagnosis have been well-established, up to 50% of cancer patients continue to smoke. Continued smoking through oncology treatment leads to increased risk of adverse events including reduced effectiveness of treatment, recurrence of additional malignancies, and reduced survival rates. Upon the cancer diagnosis, oncology healthcare providers become the primary trusted source of information and support, which represents a great opportunity to assist these patients to quit smoking. However, it remains unclear how oncology healthcare providers can best address smoking cessation from a patient-centered perspective. The present study surveyed oncology patients from Birmingham, AL, classified as either former (n = 174) or current smokers (n = 81) to identify their perceptions regarding the role of oncology healthcare providers in their smoking cessation efforts. Current smokers were more likely to be younger, received their cancer diagnosis within the past 3 years, and have a cancer diagnosis with high smoking-related public awareness (i.e., head, neck, or lung) compared to former smokers. Additionally, 81% of current smokers reported experiencing smoking cessation discussions with their oncology healthcare providers with the most prominent recommendations being use of nicotine replacement therapies (46.9%) and medication (35.8%). These smoking cessation experiences align with patient preferences. However, despite the frequency of smoking cessation discussions, current smokers demonstrated an ambivalence in understanding the risks of continued smoking during their medical treatment. Overall, this study highlights the important role of oncology healthcare providers on implementing smoking cessation intervention for their patients who continue to smoke.

Smoking Cessation among Pregnant and Postpartum Women from Low-Income Groups in the United States.

INTRODUCTION: Pregnancy creates a unique window of opportunity for smoking cessation. However, pregnant women from underserved groups can face personal, social, and environmental challenges that impede quitting. This study draws upon the socioecological framework to explore perspectives on smoking cessation among pregnant and postpartum women from low-income groups in the mid-South of the United States. METHODS: Semistructured interviews were conducted with 60 women who were pregnant or postpartum. Data were analyzed in Dedoose qualitative software using the directed content analysis approach. RESULTS: Findings reveal that at the individual level, motivations for smoking cessation included the fact of being pregnant, risks associated with the infant's health, and desire to breastfeed. However, some pregnant women perceived that slowing down on smoking during pregnancy was adequate to prevent harm to their fetuses. Individual-level factors that made smoking cessation difficult included nicotine addiction and habit, boredom, stressful life circumstances, fear of weight gain, and perceived lack of willpower. At the interpersonal level, living in a smoke-free environment where loved ones do not smoke and emotional and practical support from social network members including partners and family members were thought to facilitate smoking cessation. At the organizational level, access to nicotine replacement therapies and counseling aided in their abilities to quit smoking. At the policy level, pregnant women viewed increase in cigarette prices, warning labels on the cigarette pack, and the potential for a ban on cigarette sales as having some effect in helping them quit smoking. DISCUSSION: This study offers theoretical insights into factors that function as barriers or facilitators of smoking cessation among pregnant and postpartum women from low-income groups in the United States. Designing multilevel smoking cessation interventions while considering the interplay of individual, interpersonal, organizational, and policy level factors may lead to better cessation outcomes.