Cannabis and cocaine use, drinking outcomes, and quality of life in general hospital inpatients with alcohol use disorder.

Background: While associations between cannabis and cocaine use, and heavy drinking and quality of life (QOL), are well-established in the general population, it is unclear whether they are present in hospital inpatients with alcohol use disorder (AUD). The aim of the study was to assess associations between cannabis and cocaine use and two outcomes [heavy drinking days (HDDs) and QOL] among hospital inpatients with AUD. Methods: Hospitalized patients with AUD and at least one past-month HDD participated in this cross-sectional study. Cannabis and cocaine use were assessed using the Alcohol, Smoking, and Substance Involvement Screening Test. HDDs were assessed using the Timeline Followback. QOL was assessed by the WHOQOL-BREF instrument. Multivariable regression models assessed associations. Results: Of 248 participants, 225 (91%) had severe AUD. There were no statistically significant associations between: recent cannabis use and HDDs [Incidence Rate Ratio (IRR) = 0.95; 95% Confidence Interval (95% CI): 0.80, 1.14], cocaine use and HDDs [IRR = 0.88; 95% CI: 0.66, 1.18], or both cannabis and cocaine use and HDDs [IRR = 0.87; 95%CI: 0.70, 1.09], as compared to use of neither cannabis nor cocaine. Use of cannabis, cocaine, and both, were not associated with QOL [(odds ratio (OR) = 0.98; 95% CI:0.55, 1.74), (OR = 0.76; 95% CI:0.30, 1.93), (OR = 1.00; 95%CI: 0.49, 2.03), respectively]. Conclusions: Among hospital inpatients with AUD, there were no significant associations between cannabis and cocaine use, heavy drinking, or QOL. Our findings raise questions regarding how drug use affects AUD and whether similar results would be found among those with milder AUD and in prospective studies.

A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone.

PurposeTelephone disclosure of genetic test results can improve access to services. To date, studies of its impact have focused on return of Mendelian risk information, principally hereditary cancer syndromes.MethodsIn a multisite trial of Alzheimer disease genetic risk disclosure, asymptomatic adults were randomized to receive test results in person or via telephone. Primary analyses examined patient outcomes 12 months after disclosure.ResultsData from 257 participants showed that telephone disclosure occurred 7.4 days sooner and was 30% shorter, on average, than in-person disclosure (both P < 0.001). Anxiety and depression scores were well below cutoffs for clinical concern across protocols. Comparing telephone and in-person disclosure protocols, 99% confidence intervals of mean differences were within noninferiority margins on scales assessing anxiety, depression, and test-related distress, but inconclusive about positive impact. No differences were observed on measures of recall and subjective impact. Subanalyses supported noninferiority on all outcomes among apolipoprotein E (APOE) ɛ4-negative participants. Subanalyses were inconclusive for APOE ɛ4-positive participants, although mean anxiety and depression scores were still well below cutoffs for clinical concern.ConclusionTelephone disclosure of APOE results and risk for Alzheimer disease is generally safe and helps providers meet demands for services, even when results identify an increased risk for disease.

Impact of patient and navigator race and language concordance on care after cancer screening abnormalities.

BACKGROUND: Patient navigation improves the timely diagnosis of cancer among minorities, but little is known about the effects of patient and navigator race and language concordance on health outcomes. METHODS: The authors investigated the effects of patient and navigator race and language concordance on the time to diagnosis of cancer screening abnormalities among participants in the Boston Patient Navigation Research Program, a clinical effectiveness trial for women who had breast or cervical cancer screening abnormalities identified from January 1, 2007 to December 31, 2008. Hazard ratios and 95% confidence intervals were estimated using proportional hazards regression adjusting for clinical and demographic factors. RESULTS: In total, 1257 women had breast cancer screening abnormalities (n = 655) or cervical cancer screening abnormalities (n = 602) identified, and 56% were nonwhite. Language concordance was associated with timelier resolution for all patients in the cervical cancer screening abnormalities group during the first 90 days (adjusted hazard ratio, 1.46; 95% confidence interval, 1.18-1.80), and specifically for Spanish speakers during the first 90 days (adjusted hazard ratio, 1.43; 95% confidence interval, 1.10-1.84), but no difference was observed after 90 days for women who had cervical cancer screening abnormalities or at any time for those who had breast cancer screening abnormalities. Race concordance was associated with significant decreases in the time to diagnosis for minority women with breast and cervical cancer screening abnormalities in analyses stratified by race, but no differences were observed in analyses that included all women. CONCLUSIONS: Patient navigator race and language concordance improved the timeliness of care in a minority population. Patient navigators who are racially/ethnically diverse and multilingual may help address barriers to care and improve cancer outcomes for low-income minorities.

A Risk Prediction Index for Advanced Colorectal Neoplasia at Screening Colonoscopy.

OBJECTIVES: Eliciting patient preferences within the context of shared decision making has been advocated for colorectal cancer screening. Risk stratification for advanced colorectal neoplasia (ACN) might facilitate more effective shared decision making when selecting an appropriate screening option. Our objective was to develop and validate a clinical index for estimating the probability of ACN at screening colonoscopy. METHODS: We conducted a cross-sectional analysis of 3,543 asymptomatic, mostly average-risk patients 50-79 years of age undergoing screening colonoscopy at two urban safety net hospitals. Predictors of ACN were identified using multiple logistic regression. Model performance was internally validated using bootstrapping methods. RESULTS: The final index consisted of five independent predictors of risk (age, smoking, alcohol intake, height, and a combined sex/race/ethnicity variable). Smoking was the strongest predictor (net reclassification improvement (NRI), 8.4%) and height the weakest (NRI, 1.5%). Using a simplified weighted scoring system based on 0.5 increments of the adjusted odds ratio, the risk of ACN ranged from 3.2% (95% confidence interval (CI), 2.6-3.9) for the low-risk group (score ≤2) to 8.6% (95% CI, 7.4-9.7) for the intermediate/high-risk group (score 3-11). The model had moderate to good overall discrimination (C-statistic, 0.69; 95% CI, 0.66-0.72) and good calibration (P=0.73-0.93). CONCLUSIONS: A simple 5-item risk index based on readily available clinical data accurately stratifies average-risk patients into low- and intermediate/high-risk categories for ACN at screening colonoscopy. Uptake into clinical practice could facilitate more effective shared decision-making for CRC screening, particularly in situations where patient and provider test preferences differ.

Epidemiology of goblet cell and microvesicular hyperplastic polyps.

OBJECTIVES: Serrated polyps compromise both typical hyperplastic polyps as well as sessile serrated adenomas and dysplastic serrated polyps. Hyperplastic polyps exhibit two histological patterns: microvesicular hyperplastic polyps (MVHPs) and goblet cell hyperplastic polyps (GCHPs). MVHPs and GCHPs differ in their molecular signature. MVHPs have been frequently found to have the BRAF(V600E) mutation as well as aberrant methylation. In contrast, GCHPs have been associated with the KRAS mutation (KRAS-mut), which are infrequently seen in dysplastic serrated sessile adenomas. The particular risk factors that are associated with development of the types of hyperplastic polyps have not been previously studied. The purpose of this study is to characterize the associations between particular risk factors and the development of goblet cell or microvesicular hyperplastic polyps. METHODS: We conducted a cross-sectional analysis of 3,543 asymptomatic, mostly average risk patients 50 and 79 years of age undergoing open-access screening colonoscopy between March 2005 and January 2012. Each patient was given a survey regarding 25 reputed risk factors for colorectal neoplasia and the responses were correlated with findings at colonoscopy. Associations between putative risk factors for colorectal neoplasia and MVHPs and GSHPs were examined using multiple logistic regression. RESULTS: MVHPS and GCHPs were identified in 5.3% and 8.7% of patients, respectively. The results of the statistical analysis indicate that a history of smoking greater than 20 years is associated with an increased risk of MVHPs (P<0.005) and GCHPs (P<0.005). An elevated BMI >30 kg/m(2) was also associated with the presence of MVHP at colonoscopy (P<0.005). Blacks and Asians appear to be protected from the development of MVHPs. In contrast, there was a positive association with the presence of GCHP at colonoscopy in blacks. CONCLUSIONS: The study suggests that the development of the distinct histological types of hyperplastic polyps are associated with distinct modifiable and non-modifiable lifestyle factors.

Social service barriers delay care among women with abnormal cancer screening.

BACKGROUND: Inequity in cancer outcomes for minorities and vulnerable populations has been linked to delays in cancer care that arise from barriers to accessing care. Social service barriers represent those obstacles related to meeting life's most basic needs, like housing and income, which are often supported by public policy, regulation and services. OBJECTIVE: To examine the association between social service barriers and timely diagnostic resolution after a cancer screening abnormality. DESIGN: Secondary analysis of the intervention arm of Boston Patient Navigation Research Program (2007-2008) conducted across six urban community health centers. Subjects with no barriers, other barriers, and social service barriers were compared on their time to diagnostic resolution. SUBJECTS: Women ≥ 18 years of age with a breast or cervical cancer screening abnormality. MAIN MEASURES: Social service barriers included: income supports, housing and utilities, education and employment, and personal/family stability and safety. Time to event analyses compared across five groups: those with no barriers, one barrier (other), one barrier (social service), two or more barriers (all other), and two or more barriers (at least one social service). KEY RESULTS: 1,481 navigated women; 31 % Hispanic, 27 % Black, 32 % White; 37 % non-English speakers and 28 % had private health insurance. Eighty-eight women (6 %) had social service barriers. Compared to those without social service barriers, those with were more likely to be Hispanic, younger, have public/no health insurance, and have multiple barriers. Those with two or more barriers (at least one social service barrier), had the longest time to resolution compared to the other four groups (aHR resolution < 60 days = 0.27, ≥ 60 days = 0.37). CONCLUSION: Vulnerable women with multiple barriers, when at least one is a social service barrier, have delays in care despite navigation. The impact of patient navigation may never be fully realized if social service barriers persist without being identified or addressed.

Prevalence of advanced colorectal neoplasia in white and black patients undergoing screening colonoscopy in a safety-net hospital.

UNLABELLED: Chinese translation BACKGROUND: Black persons are more likely than white persons to be diagnosed with colorectal cancer and to die from it. The extent to which genetic or biological factors versus disparities in screening rates explain this variance remains controversial. OBJECTIVE: To define the prevalence and location of presymptomatic advanced colorectal neoplasia (ACN) among white and black persons undergoing screening colonoscopy, controlling for other epidemiologic risk factors. DESIGN: Cross-sectional survey between 22 March 2005 and 31 January 2012. SETTING: Urban, open-access, academic, safety-net hospital in Massachusetts. PARTICIPANTS: Asymptomatic, average-risk white (n = 1172) and black (n = 1681) persons aged 50 to 79 years undergoing screening colonoscopy. MEASUREMENTS: Adjusted prevalence and location of ACN, defined as a tubular adenoma 10 mm or more in size, any adenoma with villous features or high-grade dysplasia, any dysplastic serrated lesion, or invasive cancer. RESULTS: The prevalence of ACN was higher among white patients than black patients (6.8% vs. 5.0%; P = 0.039) but varied by sex (white vs. black men, 9.3% vs. 5.7%; white vs. black women, 3.5% vs. 4.3%; interaction P = 0.034). After controlling for many risk factors, black men were 41% less likely than white men (adjusted odds ratio [AOR], 0.59 [95% CI, 0.39 to 0.89]) to have ACN. No statistically significant difference was seen for women (AOR, 1.32 [CI, 0.73 to 2.40]). Black patients with ACN had a higher percentage of proximal disease (52% vs. 39%) after adjustment for age and sex (P = 0.055). LIMITATION: Single-institution study with inadequate statistical power for subgroup analyses and recall bias. CONCLUSION: Black men are less likely than white men to have ACN at screening colonoscopy in a safety-net health care setting. Disparities in access to screening and differential exposure to modifiable risk factors rather than genetic or biological factors may be largely responsible for the higher incidence of CRC among black men. Genetic or biological factors may explain the predilection for proximal disease.

Effectiveness of a condensed protocol for disclosing APOE genotype and providing risk education for Alzheimer disease.

PURPOSE: Brief, effective models of patient genetic education are needed for common, complex diseases. Using Alzheimer disease as a model, we compared participants' risk knowledge and recall in extended versus condensed education protocols. METHODS: A four-site randomized clinical trial enrolled 280 first-degree relatives of individuals with Alzheimer disease (mean age = 58 years, 71% female); each received lifetime Alzheimer disease risk information (range: 13-74%) that incorporated apolipoprotein E genotype. In the condensed protocol, participants received an educational brochure in place of an in-person education session. Outcomes were assessed at 6 weeks and 6 months following risk disclosure. RESULTS: The condensed protocol required less clinician time than the extended protocol (mean = 34 min vs. 77 min). The groups did not differ on recall of apolipoprotein E genotype or lifetime risk, and most participants in both groups recalled and retained this information over time. Both groups showed improvement from baseline in Alzheimer disease risk knowledge (e.g., understanding the magnitude of apolipoprotein E genotype effect on risk). CONCLUSION: A condensed protocol for communicating genetic risk for Alzheimer disease achieved similar educational results as an extended protocol in this study. Further research should explore the efficacy of brief genetic education protocols for complex diseases in diverse populations.

Prognostic Value of Cardiac Axis Deviation in Systemic Sclerosis-Related Pulmonary Hypertension.

OBJECTIVE: Systemic sclerosis-related pulmonary hypertension (SSc-PH) is a common complication of SSc associated with accelerated mortality. The present study was undertaken to investigate whether cardiac axis deviation indicates abnormalities in cardiac function allowing for prognostication of disease severity and mortality. METHODS: This was a retrospective study in which electrocardiograms (ECGs) were reviewed for cardiac axis deviation and their association with echocardiography and cardiopulmonary hemodynamics on right-sided heart catheterization. The primary outcome observed was all-cause mortality from the time of PH diagnosis. RESULTS: ECG results were reviewed from 169 patients with SSc-PH. Right axis deviation (RAD) and left axis deviation (LAD) occurred in 28.4% and 30.8% of patients with SSc-PH, respectively. Compared to those without RAD, patients with RAD exhibited predominantly right-sided cardiac disease on echocardiography and increased PH severity by cardiopulmonary hemodynamics including a greater mean ± SD pulmonary artery pressure (42.0 ± 12.5 mm Hg versus 29.8 ± 7.0 mm Hg) and mean ± SD pulmonary vascular resistance (645.6 ± 443.2 dynes · seconds/cm5 versus 286.3 ± 167.7 dynes · seconds/cm5 ). LAD was associated with predominantly left-sided cardiac disease on echocardiography but was not associated with PH severity on cardiopulmonary hemodynamics. Both RAD (hazard ratio 10.36 [95% confidence interval 4.90-21.93], P < 0.001) and LAD (hazard ratio 2.94 [95% confidence interval 1.53-5.68], P = 0.001) were associated with an increased hazard for all-cause mortality. CONCLUSION: RAD and LAD reflect structural cardiac abnormalities and are associated with poor prognosis in patients with SSc-PH. These findings support the importance of electrocardiography, an inexpensive, widely available noninvasive test, in risk stratification.

Disclosing genetic risk for Alzheimer's dementia to individuals with mild cognitive impairment.

INTRODUCTION: The safety of predicting conversion from mild cognitive impairment (MCI) to Alzheimer's disease (AD) dementia using apolipoprotein E (APOE) genotyping is unknown. METHODS: We randomized 114 individuals with MCI to receive estimates of 3-year risk of conversion to AD dementia informed by APOE genotyping (disclosure arm) or not (non-disclosure arm) in a non-inferiority clinical trial. Primary outcomes were anxiety and depression scores. Secondary outcomes included other psychological measures. RESULTS: Upper confidence limits for randomization arm differences were 2.3 on the State Trait Anxiety Index and 0.5 on the Geriatric Depression Scale, below non-inferiority margins of 3.3 and 1.0. Moreover, mean scores were lower in the disclosure arm than non-disclosure arm for test-related positive impact (difference: -1.9, indicating more positive feelings) and AD concern (difference: -0.3). DISCUSSION: Providing genetic information to individuals with MCI about imminent risk for AD does not increase risks of anxiety or depression and may provide psychological benefits.

A new scale measuring psychologic impact of genetic susceptibility testing for Alzheimer disease.

This paper describes the development and psychometric properties of a new scale for assessing the psychologic impact of genetic susceptibility testing for Alzheimer disease (AD). The new instrument, The REVEAL Impact of Genetic Testing for Alzheimer's disease (IGT-AD) was designed to examine the unique nature of genetic information and the disease course of AD. The scale was tested as a part of a multicenter clinical trial designed to evaluate the impact of AD risk assessment and data were collected from 276 participants in the study. Using an iterative process of principal component analysis and Cronbach [alpha], the final 16-item IGT-AD was found to have a 2-factor structure with excellent internal reliability. Construct validity was established by patterns of correlation with other standardized self-reported measures. This scale should be useful in the identification of patients who maybe susceptible to the negative effects of receiving genetic information, monitoring of patients who have received genetic information, and as a tool for researchers who wish to study the effects of genetic susceptibility testing for AD.

Perceptions of familial risk in those seeking a genetic risk assessment for Alzheimer's disease.

Perceived risk is a complex concept that influences the genetic counseling process and can affect client coping and behavior. Although the association between family history and risk perception is well recognized in the literature, no studies have explored this relationship specifically in those seeking genetic susceptibility testing for a common chronic condition. REVEAL is a randomized trial assessing the impact of APOE disclosure and genetic risk assessment for Alzheimer's disease (AD). Using baseline REVEAL data, we hypothesized that there would be a significant association between the degree of AD family history and risk perception of AD, and that this relationship would be stronger in those who believed that genetics is a very important AD risk factor. In our sample of 293 participants, we found that a higher self-perceived risk of AD was associated with strength of family history of AD (p < 0.001), belief in genetics as an important AD risk factor (p < 0.001), being female (p < 0.001) and being Caucasian (p = 0.02). These results are the first to demonstrate the association between family history and risk perception in persons volunteering for genetic susceptibility testing for a common complex disease.

Disclosing the disclosure: factors associated with communicating the results of genetic susceptibility testing for Alzheimer's disease.

This study explored the extent to which recipients of genetic susceptibility testing for Alzheimer's disease (AD) communicated their results to others. It also examined demographic characteristics, along with beliefs about AD, associated with such communication. Participants (N = 271) in a randomized clinical trial involving genetic testing for Apolipoprotein E (APOE) gene variants among first-degree relatives of AD patients reported their communication behaviors 6 weeks after the results disclosure. Information on beliefs about AD and genetic testing was collected at baseline. Eighty-two percent of participants receiving APOE genotype information shared their results with someone. Specifically, 64% shared with family members, 51% with spouse or significant others, 35% with friends, and 12% with health care professionals. Greater AD treatment optimism was associated with communicating results to family (OR = 1.43), spouse (OR = 1.62), friends (OR = 1.81), and health care professionals (OR = 2.20). Lower perceived risk (OR = 0.98) and higher perceived importance of genetics in the development of AD (OR = 1.93) were associated with results communication in general. Lower perceived drawbacks of AD genetic testing was associated with results communication to friends (OR = 0.65). Beliefs about AD risks and causes, genetic testing, and development of treatments partly may determine the interpersonal communication patterns of genetic susceptibility test results.

Do Differences in Learning Performance Precede or Follow Initiation of Marijuana Use?

OBJECTIVE: Studies examining cross-sectional associations between age at marijuana initiation and memory deficits yield mixed results. Because longitudinal data are sparse, controversy continues regarding whether these deficits reflect premorbid risk factors or sequelae of early marijuana initiation; here, we examine this question in a community sample followed since birth. METHOD: Masked examiners administered four subtests of the Wide Range Assessment of Memory and Learning (WRAML/WRAML2) from childhood until young adulthood to 119 urban, predominantly African American participants. Multivariable generalized estimated equation models measured longitudinal trajectories of learning. Participants were grouped as never users (n = 26), later initiators (≥16 years old; n = 31), and earlier initiators of marijuana use (n = 62). RESULTS: Marijuana onset groups did not significantly differ on WRAML scaled scores or IQ in childhood, nor did they differ on WRAML scaled scores in adolescence. On most WRAML2 subtests, these groups did not significantly differ in young adulthood after taking into account sex and childhood IQ. However, on Story Memory, later initiators attained higher scaled scores in young adulthood, even after including additional covariates of anxiety, depression, postsecondary education, past-month marijuana use, and past-week high-risk drinking. They showed a significantly more positive trajectory than never users that was driven by within-group improvement after adolescence. Earlier initiators showed within-group decline in Story Memory after adolescence. CONCLUSIONS: Differences in learning following earlier initiation of marijuana use may not be solely attributable to premorbid deficits.

Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease.

BACKGROUND: Genetic risk for Alzheimer's disease (AD) can be conferred by the susceptibility polymorphism apolipoprotein E (APOE), where the epsilon 4 allele increases the risk of developing late-onset AD but is not a definitive predictor of the disease, or by autosomal dominant mutations (eg, the presenilins), which almost inevitably result in early-onset familial AD. The purpose of this study was to compare the psychological impact of using these two different types of genetic information to disclose genetic risk for AD to family members of affected patients. METHODS: Data were compared from two separate protocols. The Risk Evaluation and Education for Alzheimer's Disease (REVEAL) Study is a randomized, multi-site clinical trial that evaluated the impact of susceptibility testing for AD with APOE in 101 adult children of AD patients. A separate study, conducted at the University of Washington, assessed the impact of deterministic genetic testing by disclosing presenilin-1, presenilin-2, or TAU genotype to 22 individuals at risk for familial AD or frontotemporal dementia. In both protocols, participants received genetic counseling and completed the impact of event scale (IES), a measure of test-specific distress. Scores were analyzed at the time point closest to 1 year after disclosure at which IES data were available. The role of genetic test result (positive vs negative) and type of genetic testing (deterministic vs susceptibility) in predicting log-transformed IES scores were assessed with linear regression, controlling for age, gender, and time from disclosure. RESULTS: Subjects from the REVEAL Study who learned that they were positive for the susceptibility gene APOE epsilon 4+ experienced similar, low levels of test-specific distress compared with those who received positive results of deterministic testing in the University of Washington study (P = .78). APOE epsilon 4+ individuals in the susceptibility protocol experienced more test-specific distress than those who tested epsilon 4- in the same study (P = .04); however, among those receiving deterministic test disclosure, the subjects who received positive results did not experience significantly higher levels of distress when compared with those who received negative results (P = .88). CONCLUSIONS: The findings of this preliminary study, with limited sample size, suggest that the test-related distress experienced by those receiving positive results for a deterministic mutation is similar to the distress experienced by those receiving positive results from genetic susceptibility testing, and that the majority of participants receiving genotype disclosure do not experience clinically significant distress as indicated by IES scores 1 year after learning of their test results.

Childhood Trauma Questionnaire (CTQ) correlations with prospective violence assessment in a longitudinal cohort.

Retrospective recall-based measures administered to adults, like the Childhood Trauma Questionnaire (CTQ), are commonly used to determine experiences of childhood trauma in the home. However, the CTQ has not been compared with prospective measures of childhood violence exposure, whether at home or in the community. We evaluated the relationships between young adults' responses to the CTQ and their prospective self-reports of exposure to violence in childhood and adolescence. Participants were 127 (93% African American, 47% male) urban young adults in a longitudinal birth cohort study examining effects of prenatal substance exposure and environmental factors on development. Participants completed the Violence Exposure Scale for Children-Revised (VEX-R), a 21-item self-report measure of experience of/witness to interpersonal violence, administered face to face at 9, 10, and 11 years using cartoon pictures, and via audio-computer assisted self-interview at 12, 14, and 16 years. Participants also completed the CTQ, a 28-item, 5-scale screening measure, during a young-adult follow-up (ages 18-23). Using Pearson Correlation coefficients, VEX-R total scores significantly correlated with the sum of CTQ scales, r = .33, p < .01, and 3 (physical, emotional, and sexual abuse) of the 5 CTQ subscales, showing a moderate linear association. This study suggests that the CTQ serves as a reasonable retrospective assessment of prospectively ascertained childhood trauma exposure. The differences may be accounted for by disparities in domains assessed. (PsycINFO Database Record

Intrauterine exposure to tobacco and executive functioning in high school.

BACKGROUND: Executive functioning (EF), an umbrella construct encompassing gradual maturation of cognitive organization/management processes, is important to success in multiple settings including high school. Intrauterine tobacco exposure (IUTE) correlates with negative cognitive/behavioral outcomes, but little is known about its association with adolescent EF and information from real-life contexts is sparse. We evaluated the impact of IUTE on teacher-reported observations of EF in urban high school students controlling for covariates including other intrauterine and adolescent substance exposures. METHODS: A prospective low-income birth cohort (51% male; 89% African American/Caribbean) was followed through late adolescence (16-18 years old). At birth, intrauterine exposures to cocaine and other substances (52% cocaine, 52% tobacco, 26% marijuana, 26% alcohol) were identified by meconium and/or urine assays, and/or maternal self-report. High school teachers knowledgeable about the student and unaware of study aims were asked to complete the Behavior Rating Inventory of Executive Functioning-Teacher Form (BRIEF-TF) annually. RESULTS: Teachers completed at least one BRIEF-TF for 131 adolescents. Multivariable analyses included controls for: demographics; intrauterine cocaine, marijuana, and alcohol exposures; early childhood exposures to lead; and violence exposure from school-age to adolescence. IUTE was associated with less optimal BRIEF-TF Behavioral Regulation scores (p <0.05). Other intrauterine substance exposures did not predict less optimal BRIEF-TF scores, nor did exposures to violence, lead, nor adolescents' own substance use. CONCLUSIONS: IUTE is associated with offspring's less optimal EF. Prenatal counseling should emphasize abstinence from tobacco, as well as alcohol and illegal substances.

Personal Genomic Testing for Cancer Risk: Results From the Impact of Personal Genomics Study.

Purpose Significant concerns exist regarding the potential for unwarranted behavior changes and the overuse of health care resources in response to direct-to-consumer personal genomic testing (PGT). However, little is known about customers' behaviors after PGT. Methods Longitudinal surveys were given to new customers of 23andMe (Mountain View, CA) and Pathway Genomics (San Diego, CA). Survey data were linked to individual-level PGT results through a secure data transfer process. Results Of the 1,042 customers who completed baseline and 6-month surveys (response rate, 71.2%), 762 had complete cancer-related data and were analyzed. Most customers reported that learning about their genetic risk of cancers was a motivation for testing (colorectal, 88%; prostate, 95%; breast, 94%). No customers tested positive for pathogenic mutations in highly penetrant cancer susceptibility genes. A minority of individuals received elevated single nucleotide polymorphism-based PGT cancer risk estimates (colorectal, 24%; prostate, 24%; breast, 12%). At 6 months, customers who received elevated PGT cancer risk estimates were not significantly more likely to change their diet, exercise, or advanced planning behaviors or engage in cancer screening, compared with individuals at average or reduced risk. Men who received elevated PGT prostate cancer risk estimates changed their vitamin and supplement use more than those at average or reduced risk (22% v 7.6%, respectively; adjusted odds ratio, 3.41; 95% CI, 1.44 to 8.18). Predictors of 6-month behavior include baseline behavior (exercise, vitamin or supplement use, and screening), worse health status (diet and vitamin or supplement use), and older age (advanced planning, screening). Conclusion Most adults receiving elevated direct-to-consumer PGT single nucleotide polymorphism-based cancer risk estimates did not significantly change their diet, exercise, advanced care planning, or cancer screening behaviors.

The genetics of age-related macular degeneration: a review of progress to date.

Age-related macular degeneration (AMD) is the leading cause of vision loss and blindness among older adults in the USA and throughout the developed world. Etiological research suggests that AMD is a complex disease, caused by the actions and interactions of multiple genes and environmental factors. Familial aggregation studies, twin studies, and segregation analyses have provided strong evidence for the heritability of AMD, and linkage and association studies have been conducted to localize the disease-causing genes. Whole genome linkage scans have implicated nearly every chromosome in the human genome, with the most replicated signals residing on 1q25-31 and 10q26. Association studies have identified a major risk variant within the complement factor H gene (CFH), and recent reports suggest that PLEKHA1/LOC387715 and the BF/C2 regions may be major risk loci for AMD as well. Several other genes have had at least one positive association finding and deserve further exploration. Among these, apolipoprotein E (APOE) may be a minor risk locus. Additional genes will likely be identified, and future studies should explore the potential interactions of these genes with other genes as well as environmental factors.

Psychological Distress Among School-Aged Children with and Without Intrauterine Cocaine Exposure: Perinatal Versus Contextual Effects.

Whether intrauterine cocaine exposure (IUCE) explains unique variance in psychiatric functioning among school age children, even after controlling for other biological and social risk factors, has not been fully delineated. As part of a longitudinal birth cohort study of children with and without IUCE, we conducted and analyzed data based on structured clinical interviews with 105 children (57% male) and their caregivers when the child was approximately 8.5 years old; 47% of the children had experienced IUCE. Interviews included past and current major psychological disorders and sub-threshold mental health symptoms. Potential covariates were ascertained by interviews of birth mothers and other caregivers from shortly after the child's birth until the 8.5-year visit. More than one-third of children met DSM-IV criteria for one or more mood, anxiety, attention deficit, or disruptive behavior disorders. IUCE was not significantly associated with children's history of psychological distress, in either bivariate or multiple logistic regressions. In contrast, birth mothers' acknowledgement of greater psychiatric distress at baseline and higher levels of alcohol consumption during pregnancy, and at 8.5 years caregivers' reports of their own psychological distress, and children's lower IQ were predictors of higher rates of psychological morbidity. Findings are consistent with prior reports suggesting that, regardless of IUCE status, children from low-income, urban backgrounds are at heightened risk for psychological distress. Results underscore the need for closer monitoring of the mental health of children living in low-income households, with or without intrauterine substance exposures, to facilitate access to appropriate services.