Genetic Testing For Cancer Risk Research Articles

#2918 Genetic background of kidney graft cancer

Abstract Background and Aims Renal cell carcinoma (RCC) is one of the most prevalent cancer in kidney transplant recipient (KTR). Majority of RCC occurs in native kidney as opposed to kidney graft. The genetic background of RCC in native kidneys has been determined implicating the clinical importance. Method This single-center cohort study aimed to identify genetic background of kidney graft RCC and outcome in KTR who underwent single kidney transplantation between January 2000 and December 2020 and manifested kidney graft RCC. Genetic analysis (NGS) from peripheral blood-derived genomic DNA (gDNA) was performed in both the recipient and donor using cancer-predisposition panel CZECANCA (CZEch CAncer paNel for Clinical Application). Results The calculated incidence of kidney graft RCC was 0.43%. Of the eighteen KTR with manifested kidney graft RCC, fifteen KTR and donors underwent NGS. The average patient age at transplantation was 50.3 years (median 54; 5-67 years) and 66 years (median 66; 24-79 years) at the diagnosis of kidney graft RCC. The mean donor age at transplantation was 39.7 years (median 42; 7-68 years) and graft age at kidney graft RCC diagnosis 50.2 years (median 46; 20-83 years). The mean follow-up after RCC diagnosis was 47 months (median 39.1; 0-112 months). The most prevalent was papillary RCC (n=8) followed by clear cell RCC (n=6) and renal pelvis urothelial RCC (n=1). Thirteen RCC were low stage (pT1a/b) disease, one was pT3 and one was unknown stage. Majority of RCC were higher graded. No cancer-predisposition gene was found in KTR or his donor. Conclusion Kidney graft RCC is very rare. NGS cancer-predisposition panel CZECANCA has not detected any genetic predisposition for kidney graft RCC. Further research is needed to assess clinical relevance of genetic testing for cancer risk in KTR.

Abstract 814: Bridging the gap: Informal caregivers' access to information on genetic testing for cancer risk

Abstract Introduction: Cancer risk genetic testing (referred to as genetic testing thereafter) benefits patients by allowing them to make informed behavioral and medical decisions to reduce cancer risk and by facilitating surveillance and earlier detection. Informal caregivers, who often serve as primary advocates for those at risk, play a pivotal role in supporting behavioral and medical decisions based on genetic testing information. Assessing caregivers’ knowledge of genetic testing can guide future interventions supporting informed decision-making to ensure that all groups benefit equally from advances in genetic testing. We examined the association between caregiving and knowledge of genetic testing as well as other individual and socioeconomic factors. Methods: Secondary data analysis was conducted using the 2020 Health Information National Trends Survey (HINTS 5 Cycle 4). HINTS is a nationally representative survey of adults in the civilian non-institutionalized US population. Exposure variable was caregiving (yes/no) assessed with the question “Are you currently caring for or making health care decisions for someone with a medical, behavioral, disability, or other condition?”. The outcome variable was genetic testing knowledge (yes/no) assessed with the question “have you heard of high-risk cancer genetic testing - e.g., BRCA 1/2". Weighted, multivariable logistic regression was used to estimate the association between caregiving and genetic testing knowledge adjusting for age, gender, race/ethnicity, marital status, education level, having a regular provider, rural-urban residence, and self-reported general health status. Results: A total of 3,136 participants aged ≥18 were included in the study, of whom 16.4% were caregivers and 35.9% had heard of genetic testing. In the adjusted analysis, there was no statistically significant difference between caregivers and non-caregivers in relation to genetic testing knowledge (P=0.7881). However, respondents who were ≥65 years old (aOR=0.54, 95% CI: 0.40-0.72) were less likely to have heard about genetic testing compared to those aged 18-49, as were respondents who had no regular provider (aOR=0.71, 95% CI: 0.53-0.95) compared to those with a regular provider. Compared to non-Hispanic White respondents, non-Hispanic Black (aOR=0.45, 95% CI: 0.31-0.66) or Hispanic respondents (aOR=0.44, 95% CI: 0.29-0.68) were less likely to have heard about genetic testing. Female respondents (aOR=2.02, 95% CI: 1.55-2.61) were twice as likely to have heard about genetic testing than their male counterparts. Conclusions: We found that about a third of Americans had heard about genetic testing; patients who were younger, female, White, and those who had access to a regular provider were more likely to be aware of testing. Interventions targeting under-resourced caregivers are urgently needed to promote equity in genetic testing and its benefits. Citation Format: Eric Adjei Boakye, Pranali G. Patel, Chaitali S. Dagli, Sarah Wagoner, Mrudula Nair, Nosayaba Osazuwa-Peters, Veronica Bernacchi, Samantha H. Tam. Bridging the gap: Informal caregivers' access to information on genetic testing for cancer risk [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 814.

Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk.

As demand for genetic cancer risk assessment (GCRA) continues to increase, so does the sense of urgency to scale up efforts to triage patients, facilitate informed consent, and order genetic testing for cancer risk. The National Society of Genetic Counselors outlines the elements of informed consent that should be addressed in a GCRA session. While this practice resource aims to improve health equity, research on how well the elements of informed consent are implemented in practice is lacking. This retrospective and prospective mixed-methods study assessed how adequately the elements of informed consent are addressed during pre-test GCRA among 307 community clinicians (CC) and 129 cancer genetic counselors (GC), and barriers they face to addressing these elements. Results revealed that more than 90% of both cohorts consistently addressed components of at least 5 of the 10 elements of informed consent during a pre-test consultation. Technical aspects and accuracy of the test and utilization of test results were the most similarly addressed elements. Notably, GCs more often review the purpose of the test and who to test, general information about the gene(s), and economic considerations whereas CCs more often review alternatives to testing. Both cohorts reported psychosocial aspects of the informed consent process as the least adequately addressed element. Time constraints and patient-related concerns were most often cited by both cohorts as barriers to optimal facilitation of informed consent. Additional barriers reported by CCs included provider lack of awareness, experience, or education, and availability of resources and institutional support. Findings from this study may contribute to the development of alternative delivery models that incorporate supplementary educational tools to enhance patient understanding about the utility of genetic testing, while helping to mitigate the barrier of time constraints. Equally important is the use of this information to develop continuing education tools for providers.

Genetic Testing for Cancer Risk and Perceived Importance of Genetic Information Among US Population by Race and Ethnicity: a Cross-sectional Study.

Genetic testing can help determine the risk of many cancers and guide cancer prevention and treatment plans. Despite increasing concern about disparities in precision cancer medicine, public knowledge and cancer genetic testing by race and ethnicity have not been well investigated. We analyzed data from the 2020 Health Information National Trends Survey in 2022. Self-reported cancer genetic testing (e.g., Lynch syndrome, BRCA1/2) knowledge and utilization were compared by race and ethnicity. Perceived importance of genetic information for cancer care (prevention, detection, and treatment) was also examined in relation to the uptake of cancer genetic testing. Multivariable logistic regression models were employed to examine factors associated with knowledge and genetic testing to calculate predicted probability of undergoing genetic testing by race and ethnicity. Of 3551 study participants, 37.8% reported having heard of genetic testing for cancer risk and 3.9% stated that they underwent cancer genetic testing. Being non-Hispanic Black (OR=0.47, 95% CI=0.30-0.75) or Hispanic (OR=0.56, CI=0.35-0.90) was associated with lower odds of genetic testing knowledge. Although Hispanic or non-Hispanic Black respondents were more likely to perceive higher importance of genetic information versus non-Hispanic Whites, they had a lower predicted probability of cancer genetic testing. Non-Hispanic Black and Hispanic adults had lower knowledge and were less likely to undergo cancer genetic testing than non-Hispanic Whites. Further research is needed on sources of genetic testing information for racial and ethnic minorities and the barriers to accessing genetic testing to inform the development of effective cancer risk genetic testing promotion.

Factors Associated with the Uptake of Genetic Testing for Cancer Risks: A Pathway Analysis Using the Health Information National Trends Survey Data.

Our study aimed to identify pathways from the source of information to the uptake of cancer genetic testing, with consideration of intermediate variables including perceptional, attitudinal and psychosocial factors. We used the Health Information National Trends Survey (2020 database) and constructed a structural equation model for pathway analysis (using SPSS version 24). Variables for socio-demographic, lifestyle and health information were also collected and used for confounding adjustment. A total of 2941 participants were analyzed (68.5%, non-Hispanic white; 59.7%, females; 58 years, median age; and 142 (4.8%) had undertaken genetic testing for cancer risk previously). Our pathway analysis found that only information from particular sources (i.e., healthcare providers and genetic counsellors) had positive and significant effects on people's perceptions of cancer regarding its prevention, detection and treatment (standardized β range, 0.15-0.31, all p-values < 0.01). Following the paths, these perceptional variables (cancer prevention, detection and treatment) showed considerable positive impacts on the uptake of genetic testing (standardized β (95% CIs): 0.25 (0.20, 0.30), 0.28 (0.23, 0.33) and 0.12 (0.06, 0.17), respectively). Pathways involving attitudinal and psychosocial factors showed much smaller or insignificant effects on the uptake of genetic testing. Our study brings several novel perspectives to the behavior model and may underpin certain issues regarding cancer risk genetic testing.

Interest in genetic testing and risk-reducing behavioral changes: results from a community health assessment in New York City.

Risk-based genetic tests are often used to determine cancer risk, when to initiate screening, and frequency of screening, but rely on interest in genetic testing. We examined overall interest in genetic testing for cancer risk assessment and willingness to change behavior, and whether these are affected by demographic or socioeconomic factors.We conducted a community needs health survey in 2019 among primary care and cancer patients, family members and community members in New York City. We used univariable analysis and relative risk regression to examine interest in genetic cancer risk testing and willingness to modify lifestyle behaviors in response to an informative genetic test.Of the 1225 participants, 74.0% (n = 906) expressed interest in having a genetic test to assess cancer risk. Interest in genetic testing was high across all demographic and socioeconomic groups; reported interest in genetic testing by group ranged from 65.0 (participants aged 65years and older) to 83.6% (participants below federal poverty level). Among the 906 participants that reported interest in genetic testing, 79.6% were willing to change eating habits, 66.5% to change exercise habits, and 49.5% to lose weight in response to an informative genetic test result.Our study reveals that interest in genetic testing for cancer risk is high among patients and community members and is high across demographic and socioeconomic groups, as is the reported willingness to change behavior. Based on these results, we recommend that population-based genetic testing may result in greater reduction cancer risk, particularly among minoritized groups.

PD13-03 LACK OF AWARENESS AND UNDERUTILIZATION OF GENETIC TESTING IN PROSTATE CANCER

You have accessJournal of UrologyCME1 May 2022PD13-03 LACK OF AWARENESS AND UNDERUTILIZATION OF GENETIC TESTING IN PROSTATE CANCER Sameer Thakker, Stacy Loeb, Veda Giri, and Richard Matulewicz Sameer ThakkerSameer Thakker More articles by this author , Stacy LoebStacy Loeb More articles by this author , Veda GiriVeda Giri More articles by this author , and Richard MatulewiczRichard Matulewicz More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000002545.03AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Germline genetic factors are playing an increasingly important role in the management of many cancers, including breast, ovarian and prostate cancer. Additionally, germline test results may influence screening protocols for other cancers and have important implications for family members. However, public awareness and uptake of genetic testing among these different cancers is unknown. METHODS: We examined data from the HINTS 5, Cycle 4, collected from February to June 2020 on genetic knowledge, awareness and uptake of genetic testing, as well as sources of information on genetic testing. These survey data are collected in a two-stage random sample to generate a nationally-representative estimate of adults living in the U.S. We specifically compared patients with prostate cancer (n=61, weighted sample=1,542,420) to those with breast/ovarian cancer (n=97, weighted sample=3,741,402), and a comparison group with no history of cancer (n=3168, weighted sample= 226,434,648). RESULTS: Men with prostate cancer were significantly less likely to be aware of genetic testing for cancer risk (p=0.01). Compared to patients with breast/ovarian cancer and with no cancer, fewer men with prostate cancer responded that knowing genes are at least a little important to prevent, detect and treat cancer. Only 1% of men with prostate cancer underwent genetic testing for hereditary cancer risk and 0.8% had multiple forms of genetic testing, which was significantly lower than uptake among patients with breast/ovarian cancer (p <0.001). Healthcare professionals were the most common sources of information about genetic testing for patients with breast/ovarian cancer; whereas, the internet and social media were the most common sources of information on genetic testing for patients with prostate cancer and those without a history of cancer. CONCLUSIONS: Our results corroborate a lack of awareness and substantial underutilization of genetic testing among men with prostate cancer. These findings are concerning given the importance of germline genetic information for prostate cancer care and hereditary cancer risk. The internet and social media represent promising avenues to disseminate information about genetic testing in prostate cancer. Source of Funding: Dr. Loeb and Dr. Giri are supported by the Prostate Cancer Foundation and Department of Defense © 2022 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 207Issue Supplement 5May 2022Page: e251 Advertisement Copyright & Permissions© 2022 by American Urological Association Education and Research, Inc.MetricsAuthor Information Sameer Thakker More articles by this author Stacy Loeb More articles by this author Veda Giri More articles by this author Richard Matulewicz More articles by this author Expand All Advertisement PDF downloadLoading ...

Genetic Testing for Cancer Risk: Is the Community Willing to Pay for It?

With the increasing number of cancer cases worldwide, genetic testing for familiar cancers seems inevitable, yet little is known on population interest and the monetary value for cancer genetic risk information. The current study aimed to determine the willingness to undergo and pay for cancer genetic testing among the Malaysian population. A self-administered questionnaire was distributed to cancer patients and their family members in the oncology and daycare units in several government hospitals. Of 641 respondents (354 patients, 287 family members), 267 (41.7%) were willing to undergo cancer genetic testing. The median that respondents were willing to pay was USD 48.31 (MYR 200.00) IQR USD 96.91 (MYR 400), while 143 (22.3%) respondents were willing to pay a shared cost with the insurance company. Regression analysis identified independent positive predictors of willingness to pay as respondent’s status as a family member, high education level, and willingness to undergo cancer genetic testing in general, while in patients, female gender and high level of education were identified as independent positive predictors. Generally, the population needs more information to undergo and pay for cancer genetic testing. This will increase the utilization of the services offered, and with cost-sharing practices with the provider, it can be implemented population-wide.

Impact of Telemedicine Modalities on Equitable Access to Ambulatory Gastroenterology Care

Impact of Telemedicine Modalities on Equitable Access to Ambulatory Gastroenterology Care

The impact of the number of tests presented and a provider recommendation on decisions about genetic testing for cancer risk

ObjectiveTo determine how the method of presenting testing options and a provider recommendation can influence a decision about genetic testing for inherited cancer predispositions. MethodsAn online hypothetical vignette study was completed by 454 healthy volunteers. Participants were randomized to receive one of two survey versions which differed by genetic testing choice presentation. One group was shown three options simultaneously (no test, 5-gene or 15-gene), and a second group received the 15-gene option after choosing between the no test and 5-gene options. A preference-based provider recommendation was also incorporated. We examined the effect of these interventions on test selection. ResultsParticipants in the simultaneous group were more likely to choose a genetic test than those in the sequential group (OR: 2.35, p=0.003). This effect was no longer observed when individuals who had selected no-test in the sequential group were told about the 15-gene test (OR: 1.03 p=0.932). Incorporating a provider recommendation into the hypothetical scenario led to more preference-consistent choices (χ2 = 8.53, p < 0.0035,). ConclusionsA larger menu of testing choices led to higher testing uptake. A preference-based clinician recommendation resulted in more preference-consistent choices. Practice ImplicationsThe structuring of testing options and preference-sensitive recommendations appear to facilitate informed testing decisions.

Exploring Predictors of Genetic Counseling and Testing for Hereditary Breast and Ovarian Cancer: Findings from the 2015 U.S. National Health Interview Survey.

Despite efforts to increase the availability of clinical genetic testing and counseling for Hereditary Breast and Ovarian (HBOC)-related cancers, these services remain underutilized in clinical settings. There have been few efforts to understand the public’s use of cancer genetic services, particularly for HBOC-related cancers. This analysis is based on data from the 2015 National Health Interview Survey (NHIS), a U.S.-based nationwide probability sample, to better understand the public’s use of HBOC-related clinical cancer genetic services. Bivariate analyses were used to compute percentages and examine the associations of familial cancer risk for three genetic services outcomes (ever had genetic counseling for cancer risk, ever discussed genetic testing for cancer risk with a provider, and ever had genetic testing for cancer risk). Multivariable logistic regression models were used to estimate the association of familial cancer risk and other demographic and health variables with genetic services. Most women (87.67%) in this study were at low risk based on self-reported family history of breast and ovarian cancer, 10.65% were at medium risk, and 1.68% were at high risk. Overall, very small numbers of individuals had ever had genetic counseling (2.78%), discussed genetic testing with their physician (4.55%) or had genetic testing (1.64%). Across all genetic services outcomes, individuals who were at higher familial risk were more likely to have had genetic counseling than those at lower risk (high risk: aOR = 5.869, 95% CI = 2.911–11.835; medium risk: aOR = 4.121, 95% CI = 2.934–5.789), discussed genetic testing (high risk: aOR = 5.133, 95% CI = 2.699–9.764; medium risk: aOR = 3.649, 95% CI = 2.696–4.938), and completed genetic testing (high risk: aOR = 8.531, 95% CI = 3.666–19.851; medium risk aOR = 3.057, 95% CI = 1.835–5.094). Those who perceived themselves as being more likely to develop cancer than the average woman were more likely to engage in genetic counseling (aOR = 1.916, 95% CI = 1.334–2.752), discuss genetic testing (aOR = 3.314, 95% CI = 2.463–4.459) or have had genetic testing (aOR = 1.947, 95% CI = 1.13–3.54). Personal cancer history was also a significant predictor of likelihood to have engaged in genetic services. Our findings highlight: (1) potential under-utilization of cancer genetic services among high risk populations in the U.S. and (2) differences in genetic services use based on individual’s characteristics such as self-reported familial risk, personal history, and beliefs about risk of cancer. These results align with other studies which have noted that awareness and use of genetic services are low in the general population and likely not reaching individuals who could benefit most from screening for inherited cancers. Efforts to promote public awareness of familial cancer risk may lead to better uptake of cancer genetic services.

Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients.

Genetic testing for cancer risk has expanded rapidly. We examined clinical genetic testing and results among population-based patients with breast and ovarian cancer. The study included all women 20 years of age or older diagnosed with breast or ovarian cancer in California and Georgia between 2013 and 2014 and reported to the SEER registries covering the entire state populations. SEER data were linked to results from four laboratories that performed nearly all germline cancer genetic testing. Testing use and results were analyzed at the gene level. There were 77,085 patients with breast cancer and 6,001 with ovarian cancer. Nearly one quarter of those with breast cancer (24.1%) and one third of those with ovarian cancer (30.9%) had genetic test results. Among patients with ovarian cancer, testing was lower in blacks (21.6%; 95% CI, 18.1% to 25.4%; v whites, 33.8%; 95% CI, 32.3% to 35.3%) and uninsured patients (20.8%; 95% CI, 15.5% to 26.9%; v insured patients, 35.3%; 95% CI, 33.8% to 36.9%). Prevalent pathogenic variants in patients with breast cancer were BRCA1 (3.2%), BRCA2 (3.1%), CHEK 2 (1.6%), PALB2 (1.0%), ATM (0.7%), and NBN (0.4%); in patients with ovarian cancer, prevalent pathogenic variants were BRCA1 (8.7%), BRCA2 (5.8%), CHEK2 (1.4%), BRIP1 (0.9%), MSH2 (0.8%), and ATM (0.6%). Racial/ethnic differences in pathogenic variants included BRCA1 (ovarian cancer: whites, 7.2%; 95% CI, 5.9% to 8.8%; v Hispanics, 16.1%; 95% CI, 11.8% to 21.2%) and CHEK2 (breast cancer: whites, 2.3%; 95% CI, 1.8% to 2.8%; v blacks, 0.1%; 95% CI, 0% to 0.8%). When tested for all genes that current guidelines designate as associated with their cancer type, 7.8% of patients with breast cancer and 14.5% of patients with ovarian cancer had pathogenic variants. Clinically-tested patients with breast and ovarian cancer in two large, diverse states had 8% to 15% prevalence of actionable pathogenic variants. Substantial testing gaps and disparities among patients with ovarian cancer are targets for improvement.

Genetic counseling, genetic testing, and risk perceptions for breast and colorectal cancer: Results from the 2015 National Health Interview Survey

We examined what proportion of the U.S. population with no personal cancer history reported receiving either genetic counseling or genetic testing for cancer risk, and also the association of these behaviors with cancer risk perceptions.We used data from the 2015 National Health Interview Survey. Objective relative risk scores for breast (women) and colorectal (men and women) cancer risk were generated for individuals without a personal history of cancer. Participants' risk perceptions were compared with their objective relative risk.Of 12,631 women, 1.2% reported receiving genetic counseling and 0.8% genetic testing for hereditary breast cancer risk. Of 15,085 men and women, 0.8% reported receiving genetic counseling and 0.3% genetic testing for hereditary colorectal cancer risk. Higher breast cancer risk perception was associated with genetic counseling (OR: 4.31, 95%CI: 2.56, 7.26) and testing (OR: 3.56, 95%CI: 1.80, 7.03). Similarly, higher perception of colorectal cancer risk was associated with genetic counseling (OR: 5.04, 95%CI: 2.57, 9.89) and testing (OR: 5.92, 95%CI: 2.40, 14.63). A higher proportion of individuals with colorectal cancer risk perceptions concordant with their objective risk (vs. discordant) had undergone genetic counseling or testing for colorectal cancer risk. Concordant risk perceptions for breast cancer were not associated with breast cancer genetic counseling or testing.Given frequent dialogue about implementing population level programs involving genetic services for cancer risk, policy makers and investigators should consider the role of risk perceptions in the effectiveness and design of such programs and potential strategies for addressing inaccuracies in risk perceptions.

Genetic testing and results in population-based breast cancer patients and ovarian cancer patients.

1578Background: Genetic testing for cancer risk has expanded rapidly, with more genes tested. Little is known about test use or pathogenic variant (PV) prevalence among population-based cancer pati...

Exploring Asian Indian and Pakistani views about cancer and participation in cancer genetics research: toward the development of a community genetics intervention.

Cancer is a leading cause of mortality among the three million Asian Indian/Pakistanis (AIPs) in the USA. AIPs have traditionally been underrepresented in cancer-related research, although reasons remain largely unexplored. We sought to understand AIP's awareness and perceptions of cancer to improve their participation in risk assessment and cancer genetics research. Four focus groups, stratified by gender and birthplace (US-born vs. foreign-born), were held at an AIP cultural center. Discussions focused on knowledge and awareness of cancer risk; how AIP culture influences cancer perceptions; access to health care services for cancer screening, diagnosis, or treatment; and willingness to or experiences with participating in cancer genetics research. Sessions were audio-recorded, transcribed verbatim, and content analyzed using NVivo®11 for dominant themes. Thirty-two AIP adults participated in a focus group. Information on family cancer history is challenging to obtain due to the desire for privacy, cancer stigma, and loss of medical records. Interest in genetic testing for cancer risk was mixed: some were in favor of knowing their personal risk, yet many noted that future generations in their family would benefit more by knowing their risk. Participants felt that the AIP community has largely been overlooked in recruitment efforts for research studies. Recommendations for improving recruitment efforts included partnering with community events and festivities, posting culturally and linguistically relevant recruitment materials, and focusing on population-wide health improvement. Understanding the culture and perceptions of AIPs, separate from Asian Americans at large, will allow for more tailored approaches for including this population in cancer genetics research.

Awareness, knowledge, perceptions, and attitudes towards genetic testing for cancer risk among ethnic minority groups: a systematic review

BackgroundGenetic testing for risk of hereditary cancer can help patients to make important decisions about prevention or early detection. US and UK studies show that people from ethnic minority groups are less likely to receive genetic testing. It is important to understand various groups’ awareness of genetic testing and its acceptability to avoid further disparities in health care. This review aims to identify and detail awareness, knowledge, perceptions, and attitudes towards genetic counselling/testing for cancer risk prediction in ethnic minority groups.MethodsA search was carried out in PsycInfo, CINAHL, Embase and MEDLINE. Search terms referred to ethnicity, genetic testing/counselling, cancer, awareness, knowledge, attitudes, and perceptions. Quantitative and qualitative studies, written in English, and published between 2000 and 2015, were included.ResultsForty-one studies were selected for review: 39 from the US, and two from Australia. Results revealed low awareness and knowledge of genetic counselling/testing for cancer susceptibility amongst ethnic minority groups including African Americans, Asian Americans, and Hispanics. Attitudes towards genetic testing were generally positive; perceived benefits included positive implications for personal health and being able to inform family. However, negative attitudes were also evident, particularly the anticipated emotional impact of test results, and concerns about confidentiality, stigma, and discrimination. Chinese Australian groups were less studied, but of interest was a finding from qualitative research indicating that different views of who close family members are could impact on reported family history of cancer, which could in turn impact a risk assessment.ConclusionInterventions are needed to increase awareness and knowledge of genetic testing for cancer risk and to reduce the perceived stigma and taboo surrounding the topic of cancer in ethnic minority groups. More detailed research is needed in countries other than the US and across a broader spectrum of ethnic minority groups to develop effective culturally sensitive approaches for cancer prevention.

Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome.

Whether children should be offered genetic testing for cancer risk is much debated but young voices are rarely heard in these conversations. The current study explored perspectives of genetic testing held by adolescents and emerging adults in families with Li Fraumeni syndrome (LFS). Twelve 12- to 25-year-olds in families with LFS completed qualitative interviews for this study. All believed that testing should be offered for children but many qualified this statement saying parental approval would be needed and testing should be optional. Genetic testing was seen as way to learn of risk status, allow for disease prevention efforts, and reduce uncertainty and anxiety. Perceived disadvantages included negative emotions associated with the testing result. Participants generally felt that children should be involved in the testing decision, but that parents could unilaterally decide to have a child tested in certain circumstances (e.g., young age, high risk). All who were aware of having been tested and of their test result (n=7; 4 positive) said testing had no negative impact on their outlook and they agreed with the decision to undergo testing. Implications of these findings for clinical practice and future research are discussed.

Abstract A59: Influence of Spirituality on Cancer Risk Assessment Decisions: Perspectives of Hispanic &amp; non-Hispanic Women

Abstract Spirituality has been a prominent coping resource among those facing cancer and can be especially relevant in dealing with the uncertainty of cancer risk. As part of a larger study, the aim of this study was to explore how spirituality influences decisions to get cancer risk assessment among Hispanic and non-Hispanic women in New Mexico. A total of 16 women with a personal history of breast and ovarian cancer participated in focus group or an interview. Ethnically, 50% of participants identified as Hispanic and racially, 69% identified as White. The mean age was 56 years old, 63% had a college degree, and 69% had a yearly household income of &amp;lt; $50,000. A majority (81%) of women stated that their spirituality was important or highly important in their lives. Although 94% replied that their spirituality does not influence their decisions to get genetic testing, discussion of spirituality within the context of getting cancer risk assessment was especially relevant among Hispanic participants. Qualitative analyses were done to extract themes on how spirituality might act as a facilitator or barrier to engaging in cancer risk assessment. Among non-Hispanic participants, there was acknowledgement of how spirituality may impact others' decision and a strong sentiment that spirituality not was relevant in their personal decisions for genetic testing. Among English-speaking Hispanic participants, there was a strong emphasis on the role that spirituality plays in well-being and as a central role in New Mexican Hispanic culture. Among Spanish-Speaking Hispanic participants, spirituality was paramount in coping with the experience of breast cancer and in encouraging genetic testing and screening as an avenue to protect health for individual and the family. In conclusion, spirituality may not have a direct influence on decisions to seek genetic testing for cancer risk, but the indirect influence of spirituality through culture and as a coping resource does vary by ethnicity. Citation Format: Belinda Vicuna. Influence of Spirituality on Cancer Risk Assessment Decisions: Perspectives of Hispanic &amp; non-Hispanic Women. [abstract]. In: Proceedings of the Ninth AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2016 Sep 25-28; Fort Lauderdale, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2017;26(2 Suppl):Abstract nr A59.

Personalized cancer medicine: present status and future perspectives

결핵은 결핵균에 의하여 발생하는 질환이다. 따라서, 진단 은 결핵균을 증명하거나 결핵균에 의해 손상된 조직소견을 확인하면 된다. 치료도 결핵균을 죽일 수 있는 항균제를 사 용하면 대부분 해결된다. 암이라는 진단은 결핵과 다르다. 우리나라에 흔한 ‘위암’의 경우, 위장에는 대부분 선암이 발생하지만 악성림프종이나 육종 등도 생긴다. 반대로 ‘선암’은 위장뿐만 아니라, 유방, Most cancers have oncogenes and tumor suppressor genes. First successful drug targeting a oncogene is imatinib. It was very effective for chronic myelogenous leukemia as well as gastrointestinal stromal tumors. Many other targeted agents showed good response: trastuzumab for breast cancer, epidermal growth factor receptor tyrosine kinase inhibitors for non-small cell lung cancer, etc. Tests for EGFR and ALK gene mutation are routinely recommended for adenocarcinoma of lung cancer for selection of anticancer treatment. In addition, large-scale genomic data generation (next generation sequencing) is feasible in a clinical setting and gives us high hope for personalized cancer medicine. However, there are many hurdles to overcome. Driver genes must be distinguished from the passenger genes that are present in tumor DNA. In case of targeted cancer therapy, emergence of drug resistance due to tumor cell heterogeneity and clonal evolution is difficult to manage. Genetic testing for cancer risk showed some success in preventing familial breast or ovarian cancers, but it cannot be generalized in other tumors. Application of genetic information in cancer medicine showed promise but evidence-based approach is needed in clinical practice.

The Influence of Health Care Policies and Health Care System Distrust on Willingness to Undergo Genetic Testing

As the potential role of genetic testing in disease prevention and management grows, so does concern about differences in uptake of genetic testing across social and racial groups. Characteristics of how genetic tests are delivered may influence willingness to undergo testing and, if they affect population subgroups differently, alter disparities in testing. Conjoint analysis study of the effect of 3 characteristics of genetic test delivery (ie, attributes) on willingness to undergo genetic testing for cancer risk. Data were collected using a random digit dialing survey of 128 African American and 209 white individuals living in the United States. Measures included conjoint scenarios, the Revised Health Care System Distrust Scale (including the values and competence subscales), health insurance coverage, and sociodemographic characteristics. The 3 attributes studied were disclosure of test results to the health insurer, provision of the test by a specialist or primary care doctor, and race-specific or race-neutral marketing. In adjusted analyses, disclosure of test results to insurers, having to get the test from a specialist, and race-specific marketing were all inversely associated with willingness to undergo the genetic test, with the greatest effect for the disclosure attribute. Racial differences in willingness to undergo testing were not statistically significant (P=0.07) and the effect of the attributes on willingness to undergo testing did not vary by patient race. However, the decrease in willingness to undergo testing with insurance disclosure was greater among individuals with high values distrust (P=0.03), and the decrease in willingness to undergo testing from specialist access was smaller among individuals with high competence distrust (P=0.03). Several potentially modifiable characteristics of how genetic tests are delivered are associated with willingness to undergo testing. The effect of 2 of these characteristics vary according to the level of health care system distrust, suggesting that policy decisions about delivery of genetic testing may influence differences in uptake across patient subgroups defined by levels of distrust rather than by race.