Comprehension of skin cancer genetic risk feedback in primary care patients.
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ABSTRACT:
SUBMITTER: Khan E
PROVIDER: S-EPMC8799794 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND:Genomic testing for common genetic variants associated with skin cancer risk could enable personalized risk feedback to motivate skin cancer screening and sun protection. METHODS:In a cross-sectional study, we investigated whether skin cancer cognitions and behavioral factors, sociodemographics, family factors, and health information-seeking were related to perceived importance of learning about how (a) genes and (b) health habits affect personal health risks using classification and regression trees (CART). RESULTS:The sample (n = 1,772) was collected in a large health maintenance organization as part of the Multiplex Initiative, ranged in age from 25-40, was 53% female, 41% Caucasian, and 59% African-American. Most reported that they placed somewhat to very high importance on learning about how genes (79%) and health habits (88%) affect their health risks. Social influence actors were associated with information-seeking about genes and health habits. Awareness of family history was associated with importance of health habit, but not genetic, information-seeking. CONCLUSIONS:The investment of family and friends in health promotion may be a primary motivator for prioritizing information-seeking about how genes and health habits affect personal health risks and may contribute to the personal value, or personal utility, of risk information. Individuals who seek such risk information may be receptive to interventions aimed to maximize the social implications of healthy lifestyle change to reduce their health risks.
| S-EPMC3318939 | biostudies-literature
Project description:Public availability of genetic information is increasing; thus, efforts to improve diversity in basic and translational research in genomics is a top priority. Given the increasing U.S. incidence and mortality of melanoma, and the prevalence of common melanocortin-1 receptor (MC1R) gene melanoma risk variants in the general population, we examined genomic testing of MC1R for skin cancer risk in a randomized controlled trial in Albuquerque, New Mexico primary care. Participants were 48% Hispanic and were randomized 5:1 to a MC1R test invitation or usual care. We assessed 3 month sun protection, skin cancer screening, and skin cancer worry outcomes associated with testing, and key effect moderators (e.g., cancer risk perceptions, and skin cancer risk factors). Our findings indicate that the primary outcomes were unchanged by the MC1R test offer, test acceptance, and level of risk feedback. Moderator analyses showed that those with lower risk perception, and those with skin that readily tans, significantly increased their sun protection in response to higher than average risk feedback. Risk feedback did not prompt cancer worry, and average risk feedback did not erode existing sun protection. This study paves the way for the development of tailored strategies to address low skin cancer risk awareness in this understudied context of public health genomics.
| S-EPMC8394482 | biostudies-literature
Project description:BackgroundRising healthcare expenditures places the potential for substitution of hospital care towards primary care high on the political agenda. As low-risk basal cell carcinoma (BCC) care is one of the potential targets for substitution of hospital care towards primary care the objective of this study is to gain insight in the views of healthcare professionals regarding substitution of skin cancer care, and to identify perceived barriers and potential strategies to facilitate substitution.MethodsA qualitative study was conducted consisting of 40 interviews with dermatologists and GPs and three focus groups with 18 selected GPs with noted willingness regarding substitution of skin cancer care. The interviews and focus groups focused on general views, perceived barriers and potential strategies to facilitate substitution of skin cancer care, using predefined topic lists. All sessions were audio-taped, transcribed verbatim and analyzed using the program AtlasTi.ResultsGPs were generally positive regarding substitution of skin care whereas dermatologists expressed more concerns. Lack of trust in GPs to adequately perform skin cancer care and a preference of patients for dermatologists are reported as barriers by dermatologists. The main barriers reported by GPs were a lack of confidence in own skills to perform skin cancer care, a lack of trust from both patients and dermatologists and limited time and financial compensation. Facilitating strategies suggested by both groups mainly focused on improving GPs' education and improving the collaboration between primary and secondary care. GPs additionally suggested efforts from dermatologists to increase their own and patients' trust in GPs, and time and financial compensation. The selected group of GPs suggested practical solutions to facilitate substitution focusing on changes in organizational structure including horizontal referring, outreach models and practice size reduction.ConclusionsGPs and, to lesser extent, dermatologists are positive regarding substitution of low-risk BCC care, though report substantial barriers that need to be addressed before substitution can be further implemented. Aside from essential strategies such as improving GPs' skin cancer education and time and financial compensation, rearranging the organizational structure in primary care and between primary and secondary care may facilitate effective and safe substitution of low-risk BCC care.
| S-EPMC6424446 | biostudies-literature
Project description:Primary care physicians (PCPs) are often the first line of defense against skin cancers. Despite this, many PCPs do not receive a comprehensive training in skin conditions. Educational interventions aimed at skin cancer screening instruction for PCPs offer an opportunity to detect skin cancer at earlier stages and subsequent improved morbidity and mortality. A scoping review was conducted to collect data about previously reported skin cancer screening interventions for PCPs. A structured literature search found 51 studies describing 37 unique educational interventions. Curriculum elements utilized by the interventions were divided into categories that would facilitate comparison including curriculum components, delivery format, delivery timing, and outcome measures. The interventions varied widely in design, including literature-based interventions, live teaching sessions, and online courses with durations ranging from 5 min to 24 months. While several interventions demonstrated improvements in skin cancer knowledge and competency by written exams, only a few revealed positive clinical practice changes by biopsy review or referral analysis. Examining successful interventions could aid in developing a skin cancer detection curriculum for PCPs that can produce positive clinical practice and population-based changes in the management of skin cancer.
| S-EPMC9202989 | biostudies-literature
Project description:Myotonic dystrophy type 1 (DM1) is an inherited multisystem neuromuscular disorder caused by a CTG trinucleotide repeat expansion in the DMPK gene. Recent evidence documents that DM1 patients have an increased risk of certain cancers, but whether skin cancer risks are elevated is unclear. Using the U.K. Clinical Practice Research Datalink (CPRD), we identified 1,061 DM1 patients and 15,119 DM1-free individuals matched on gender, birth year (±2 years), attending practice and registration year (±1 year). We calculated the hazard ratios (HRs) and 95% confidence intervals (CIs) for the association of DM1 diagnosis with skin cancer risk using Cox proportional hazards models, for all skin cancers combined and by histological subtype. Follow-up started at the latest of the age at practice registration, DM1 diagnosis/control selection or January 1st 1988, and ended at the earliest of the age at first skin cancer diagnosis, death, transfer out of the practice, last date of data collection or the end of the CPRD record (October 31, 2016). During a median follow-up of 3.6 years, 35 DM1 patients and 108 matched DM1-free individuals developed a skin cancer. DM1 patients had an increased risk of skin cancer overall (HR?=?5.44, 95% CI?=?3.33-8.89, p?<?0.0001), and basal cell carcinoma (BCC) (HR?=?5.78, 95% CI?=?3.36-9.92, p?<?0.0001). Risks did not differ by gender, or age at DM1 diagnosis (p-heterogeneity?>?0.5). Our data confirm suggested associations between DM1 and skin neoplasms with the highest risk seen for BCC. Patients are advised to minimize ultraviolet light exposure and seek medical advice for suspicious lesions.
| S-EPMC5773358 | biostudies-literature
Project description:Esophageal cancer (EC) is a deadly cancer that frequently develops multiple primary cancers (MPCs). However, the risk biomarkers of MPC in EC have hardly been investigated. We retrospectively enrolled 920 subjects with primary EC and analyzed the possible risk factors as well as MPC single-nucleotide polymorphisms (SNPs) from blood DNA. A total of 184 subjects (20.0%) were confirmed to have MPC, 59 (32.8%) had synchronous MPC, and 128 (69.6%) had head and neck cancer. Elderly EC patients have an increased risk of having gastrointestinal cancer (Odds ratio, OR[95% CI]=6.70 [1.49-30.19], p=0.013) and a reduced risk of developing HNC (OR[95% CI]=0.44 [0.24-0.81], p=0.008). MPC risk was also associated with betel nut chewing (OR[95% CI]=1.63, 1.14-2.32], p=0.008), the A allele of ALDH2:rs671 (p=0.074 and 0.030 for GA and AA, respectively), the CC genotype in CISH:rs2239751 (OR[95% CI]=1.99 [1.2-3.32], p=0.008), and the G allele of ERCC5:rs17655 (p=0.001 and 0.090 for GC and CC, respectively). ADH1B:rs1229984 also correlated with MPC risk (p=0.117). Patients carrying four risk SNPs had a 40-fold risk of MPC (OR[95% CI]=40.25 [6.77-239.50], p<0.001) and a 12.57-fold risk of developing second primary cancer after EC (OR[95% CI]=12.57 [1.14-138.8], p=0.039) compared to those without any risk SNPs. In conclusion, hereditary variations in ALDH2, CISH, ERCC5, and ADH1B have great potential in predicting the incidence of MPC in EC patients. An extensive cancer screening program during clinical follow-up would be beneficial for patients with high MPC susceptibility.
| S-EPMC7862767 | biostudies-literature
Project description:Telomere-related genes play an important role in maintaining the integrity of the telomeric structure that protects chromosome ends, and telomere dysfunction may lead to tumorigenesis. We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT, TRF1, TRF2, TNKS2, and POT1) and one SNP (rs401681) in the TERT-CLPTM1L locus which has been identified as a susceptibility locus to skin cancer in the previous GWAS, and the risk of skin cancer in a case-control study of Caucasians nested within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls. Of the 39 SNPs evaluated, ten showed a nominal significant association with the risk of at least one type of skin cancer. After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2242652) and one SNP in the TRF1 gene (rs2981096) showed significant associations with the risk of melanoma. Also, the SNP rs401681 in the TERT-CLPTM1L locus was replicated for the association with melanoma risk. The additive odds ratio (OR) [95% confidence interval (95% CI)] of these four SNPs (rs2853676[T], rs2242652[A], rs2981096[G], and rs401681[C]) for the risk of melanoma was 1.43 (1.14-1.81), 1.50 (1.14-1.98), 1.87 (1.19-2.91), and 0.73 (0.59-0.91), respectively. Moreover, we found that the rs401681[C] was associated with shorter relative telomere length (P for trend, 0.05). We did not observe significant associations for SCC or BCC risk. Our study provides evidence for the contribution of genetic variants in the telomere-maintaining genes to melanoma susceptibility.
| S-EPMC3443196 | biostudies-literature
Project description:Observational studies have suggested that smoking may increase the risk of cutaneous squamous cell carcinoma (cSCC) while decreasing the risks of basal cell carcinoma (BCC), and melanoma. However, it remains possible that confounding by other factors may explain these associations. The aim of this investigation was to use Mendelian randomization (MR) to test whether smoking is associated with skin cancer, independently of other factors. Two-sample MR analyses were conducted to determine the causal effect of smoking measures on skin cancer risk using genome-wide association study (GWAS) summary statistics. We used the inverse-variance-weighted estimator to derive separate risk estimates across genetic instruments for all smoking measures. A genetic predisposition to smoking initiation was associated with lower risks of all skin cancer types, although none of the effect estimates reached statistical significance (OR 95% CI BCC 0.91, 0.82-1.01; cSCC 0.82, 0.66-1.01; melanoma 0.91, 0.82-1.01). Results for other measures were similar to smoking initiation with the exception of smoking intensity which was associated with a significantly reduced risk of melanoma (OR 0.67, 95% CI 0.51-0.89). Our findings support the findings of observational studies linking smoking to lower risks of melanoma and BCC. However, we found no evidence that smoking is associated with an elevated risk of cSCC; indeed, our results are most consistent with a decreased risk, similar to BCC and melanoma.
| S-EPMC10558453 | biostudies-literature
Project description:Current prostate cancer risk calculators are limited in impact because only a probability of having prostate cancer is provided. We developed the next generation of prostate cancer risk calculator that incorporates life expectancy in order to better evaluate prostate cancer risk in context to a patient's age and comorbidity.We combined two cohorts to develop the new risk calculator. The first was 5638 subjects who all underwent a prostate biopsy for prostate cancer detection. The second was 979 men diagnosed with prostate cancer with long-term survival data. Two regression models were used to create multivariable nomograms and an online prostate cancer risk calculator was developed.Of the 5638 patients who underwent a prostate biopsy, 629 (11%) were diagnosed with aggressive prostate cancer (Gleason Score 7[4+3] or more). Of the 979 patients who underwent treatment for prostate cancer, the 10-year overall survival (OS) was 49.6% (95% confidence interval [CI] 46.6-52.9). The first multivariable nomogram for cancer risk had a concordance index of 0.74 (95% CI 0.72, 0.76), and the second nomogram to predict survival had a concordance index of 0.71 (95% CI 0.69-0.72). The next-generation prostate cancer risk calculator was developed online and is available at: http://riskcalc.org/ProstateCA_Screen_Tool.We have developed the next-generation prostate cancer risk calculator that incorporates a patient's life expectancy based on age and comorbidity. This approach will better evaluate prostate cancer risk. Future studies examining other populations will be needed for validation.
| S-EPMC5937391 | biostudies-other
Project description:BackgroundHealth risk behaviors are the most common sources of morbidity among adolescents. Adolescent health guidelines (Guidelines for Preventive Services by the AMA and Bright Futures by the Maternal Child Health Bureau) recommend screening and counseling, but the implementation is inconsistent.ObjectiveThis study aims to test the efficacy of electronic risk behavior screening with integrated patient-facing feedback on the delivery of adolescent-reported clinician counseling and risk behaviors over time.MethodsThis was a randomized controlled trial comparing an electronic tool to usual care in five pediatric clinics in the Pacific Northwest. A total of 300 participants aged 13-18 years who attended a well-care visit between September 30, 2016, and January 12, 2018, were included. Adolescents were randomized after consent by employing a 1:1 balanced age, sex, and clinic stratified schema with 150 adolescents in the intervention group and 150 in the control group. Intervention adolescents received electronic screening with integrated feedback, and the clinicians received a summary report of the results. Control adolescents received usual care. Outcomes, assessed via online survey methods, included adolescent-reported receipt of counseling during the visit (measured a day after the visit) and health risk behavior change (measured at 3 and 6 months after the visit).ResultsOf the original 300 participants, 94% (n=282), 94.3% (n=283), and 94.6% (n=284) completed follow-up surveys at 1 day, 3 months, and 6 months, respectively, with similar levels of attrition across study arms. The mean risk behavior score at baseline was 2.86 (SD 2.33) for intervention adolescents and 3.10 (SD 2.52) for control adolescents (score potential range 0-21). After adjusting for age, gender, and random effect of the clinic, intervention adolescents were 36% more likely to report having received counseling for endorsed risk behaviors than control adolescents (adjusted rate ratio 1.36, 95% CI 1.04 to 1.78) 1 day after the well-care visit. Both the intervention and control groups reported decreased risk behaviors at the 3- and 6-month follow-up assessments, with no significant group differences in risk behavior scores at either time point (3-month group difference: β=-.15, 95% CI -0.57 to -0.01, P=.05; 6-month group difference: β=-.12, 95% CI -0.29 to 0.52, P=.57).ConclusionsAlthough electronic health screening with integrated feedback improves the delivery of counseling by clinicians, the impact on risk behaviors is modest and, in this study, not significantly different from usual care. More research is needed to identify effective strategies to reduce risk in the context of well-care.Trial registrationClinicalTrials.gov NCT02882919; https://clinicaltrials.gov/ct2/show/NCT02882919.
| S-EPMC7998326 | biostudies-literature