Perceived Versus Predicted Risks of Colorectal Cancer and Self-Reported Colonoscopies by Members of Mismatch Repair Gene Mutation-Carrying Families Who Have Declined Genetic Testing

People carrying germline mutations in mismatch repair genes are at high risk of colorectal cancer (CRC), yet about half of people from mutation-carrying families decline genetic counselling and/or testing to identify mutation status. We studied the association of quantitative measures of risk perception, risk prediction and self-reported screening colonoscopy in this elusive yet high-risk group. The sample of 26 participants (mean age 43.1 years, 14 women) in the Australasian Colorectal Cancer Family Registry were relatives of mutation carriers; had not been diagnosed with any cancer at the time of recruitment and had declined an invitation to attend genetic counselling and/or testing. A structured elicitation protocol captured perceived CRC risk over the next 10 years. Self-reported colonoscopy screening was elicited during a 45-minute semi-structured interview. Predicted 10-year CRC risk based on age, gender, known mutation status and family history was calculated using “MMRpro.” Mean perceived 10-year risk of CRC was 31 % [95 % CI 21, 40], compared with mean predicted risk of 4 % [2, 7] (p?<?0.001); this was independent of age and sex (p?=?0.9). Among those reporting any medical advice and any screening colonoscopy (n?=?18), those with higher risk perception had less frequent colonoscopy (Pearson’s r?=?0.49 [0.02, 0.79]). People who decline genetic testing for CRC susceptibility mutations perceive themselves to be at substantially higher risk than they really are. Those with high perceived risk do not undertake screening colonoscopy more often than those who perceive themselves to be at average risk.     

Genetic Counselors’ Experiences Regarding Communication of Reproductive Risks with Autosomal Recessive Conditions found on Cancer Panels

The development of hereditary cancer genetic testing panels has altered genetic counseling practice. Mutations within certain genes on cancer panels pose not only a cancer risk, but also a reproductive risk for autosomal recessive conditions such as Fanconi anemia, constitutional mismatch repair deficiency syndrome, and ataxia telangiectasia. This study aimed to determine if genetic counselors discuss reproductive risks for autosomal recessive conditions associated with genes included on cancer panels, and if so, under what circumstances these risks are discussed. An on-line survey was emailed through the NSGC list-serv. The survey assessed 189 cancer genetic counselors' experiences discussing reproductive risks with patients at risk to carry a mutation or variant of uncertain significance (VUS) in a gene associated with both an autosomal dominant cancer risk and an autosomal recessive syndrome. Over half (n = 82, 55 %) reported having discussed reproductive risks; the remainder (n = 66, 45 %) had not. Genetic counselors who reported discussing reproductive risks primarily did so when patients had a positive result and were of reproductive age. Reasons for not discussing these risks included when a patient had completed childbearing or when a VUS was identified. Most counselors discussed reproductive risk after obtaining results and not during the informed consent process. There is inconsistency as to if and when the discussion of reproductive risks is taking place. The wide variation in responses suggests a need to develop professional guidelines for when and how discussions of reproductive risk for autosomal recessive conditions identified through cancer panels should occur with patients.     

Uptake of Cardiac Screening and Genetic Testing Among Hypertrophic and Dilated Cardiomyopathy Families

Cardiomyopathy is a genetically and clinically heterogeneous, life threatening disease which affects people of all ages. Recent guidelines provide recommendations for cardiac screening and genetic testing in at-risk relatives, but the uptake and impact of these measures in the United States is unknown. This is a single institution retrospective study that characterizes the uptake of cardiac screening and genetic testing for relatives of a cohort of 57 probands with hypertrophic (HCM) and dilated cardiomyopathy (DCM) who underwent both clinical evaluation and genetic testing. Cardiac screening was indicated for 302 relatives. One hundred and seventy-three (57 %) completed cardiac screening. Forty of the 57 probands were mutation positive and genetic testing was indicated for 213 relatives. Eighty-four (39 %) completed genetic testing. The uptake of cardiac surveillance was greater than the uptake of genetic testing (p?<?0.0001) among relatives of mutation positive probands. Within the group of at-risk, asymptomatic relatives of probands, cardiac screening and genetic testing were positive in 25 % and 40 % of cases, respectively. These data demonstrate the important role and utility of cascade cardiac screening and genetic testing in the care of patients and families with HCM or DCM. The approach to cardiac screening and genetic testing should be family-specific and requires expertise in the genetics of cardiomyopathy.     

Genetic Testing of Children for Predisposition to Mood Disorders: Anticipating the Clinical Issues

Large-scale sequencing information may provide a basis for genetic tests for predisposition to common disorders. In this study, participants in the Coriell Personalized Medicine Collaborative (N?=?53) with a personal and/or family history of Major Depressive Disorder or Bipolar Disorder were interviewed based on the Health Belief Model around hypothetical intention to test one’s children for probability of developing a mood disorder. Most participants (87 %) were interested in a hypothetical test for children that had high (“90 %”) positive predictive value, while 51 % of participants remained interested in a modestly predictive test (“20 %”). Interest was driven by beliefs about effects of test results on parenting behaviors and on discrimination. Most participants favored testing before adolescence (64 %), and were reluctant to share results with asymptomatic children before adulthood. Participants anticipated both positive and negative effects of testing on parental treatment and on children’s self-esteem. Further investigation will determine whether these findings will generalize to other complex disorders for which early intervention is possible but not clearly demonstrated to improve outcomes. More information is also needed about the effects of childhood genetic testing and sharing of results on parent–child relationships, and about the role of the child in the decision-making process.     

Demographic and Experiential Correlates of Public Attitudes Towards Cell-Free Fetal DNA Screening

This study seeks to inform clinical application of cell-free fetal DNA (cffDNA) screening as a novel method for prenatal trisomy detection by investigating public attitudes towards this technology and demographic and experiential characteristics related to these attitudes. Two versions of a 25-item survey assessing interest in cffDNA and existing first-trimester combined screening for either trisomy 13 and 18 or trisomy 21 were distributed among 3,164 members of the United States public. Logistic regression was performed to determine variables predictive of interest in screening options. Approximately 47 % of respondents expressed an interest in cffDNA screening for trisomy 13, 18, and 21, with a majority interested in cffDNA screening as a stand-alone technique. A significantly greater percent would consider termination of pregnancy following a diagnosis of trisomy 13 or 18 (52 %) over one of trisomy 21 (44 %). Willingness to consider abortion of an affected pregnancy was the strongest correlate to interest in both cffDNA and first-trimester combined screening, although markedly more respondents expressed an interest in some form of screening (69 % and 71 %, respectively) than would consider termination. Greater educational attainment, higher income, and insurance coverage predicted interest in cffDNA screening; stronger religious identification also corresponded to decreased interest. Prior experience with disability and genetic testing was associated with increased interest in cffDNA screening. Several of these factors, in addition to advanced age and Asian race, were, in turn, predictive of respondents’ increased willingness to consider post-diagnosis termination of pregnancy. In conclusion, divergent attitudes towards cffDNA screening—and prenatal options more generally – appear correlated with individual socioeconomic and religious backgrounds and experiences with disability and genetic testing. Clinical implementation and counseling for novel prenatal technologies should take these diverse stakeholder values into consideration.     

The Value of a Genetic Counselor: Improving Identification of Cancer Genetic Counseling Patients with Chart Review

Advances in genetics are changing cancer care and requiring institutions to maximize the unique skills of genetics professionals. The identification of genetic syndromes is vital for prevention and management of families with high cancer risks. Despite this, high risk individuals who qualify are often not referred. Genetic counselors could review oncology charts to improve identification. A genetics assessment tool developed by NCI Community Cancer Centers Program was used to perform self-assessment of the genetics program. A weekly report of all new oncology patients was provided to a genetic counselor for chart review. In 2010, 58 % of all eligible patients (n?=?152) were offered a genetics evaluation. In 2011 this improved to 70 % (n?=?167), which was a statistically significant difference, X ²(1)?=?5.13, p?=?0.02. By cancer site, ovarian cancer referrals also showed statistically significant improvement, X ²(1)?=?6.36, p?=?0.01. Breast and colon referrals were improved but not significant. Over 10 months, 129 patients were identified through the chart review program. Three were confirmed to have a genetic mutation for a hereditary cancer syndrome. An average week included review of 73 charts for 10 medical oncologists, 4 radiation oncologists, and 4 pediatric oncologists which generated 60–80 min of work for the genetic counselor. This program improved patient identification and quality, and allowed physicians to become more aware of opportunities for genetic counseling and more patients to receive genetic counseling and testing.     

Cost Sharing and Hereditary Cancer Risk: Predictors of Willingness-to-Pay for Genetic Testing

Increasing use of predictive genetic testing to gauge hereditary cancer risk has been paralleled by rising cost-sharing practices. Little is known about how demographic and psychosocial factors may influence individuals’ willingness-to-pay for genetic testing. The Gastrointestinal Tumor Risk Assessment Program Registry includes individuals presenting for genetic risk assessment based on personal/family cancer history. Participants complete a baseline survey assessing cancer history and psychosocial items. Willingness-to-pay items include intention for: genetic testing only if paid by insurance; testing with self-pay; and amount willing-to-pay ($25–$2,000). Multivariable models examined predictors of willingness-to-pay out-of-pocket (versus only if paid by insurance) and willingness-to-pay a smaller versus larger sum (≤$200 vs. ≥$500). All statistical tests are two-sided (α?=?0.05). Of 385 evaluable participants, a minority (42 %) had a personal cancer history, while 56 % had ≥1 first-degree relative with colorectal cancer. Overall, 21.3 % were willing to have testing only if paid by insurance, and 78.7 % were willing-to-pay. Predictors of willingness-to-pay were: 1) concern for positive result; 2) confidence to control cancer risk; 3) fewer perceived barriers to colorectal cancer screening; 4) benefit of testing to guide screening (all p?p?相似文献   

Attitudes of Mothers of Children with Down Syndrome Towards Noninvasive Prenatal Testing

Noninvasive prenatal testing (NIPT) allows for highly sensitive detection of Down syndrome early in pregnancy with no risk of miscarriage, therefore potentially increasing the number of pregnancies identified with Down syndrome. This study assesses how mothers of children with Down syndrome perceive NIPT, especially the impact they think it will have on their families and other families with children who have Down syndrome. Seventy-three self-reported mothers of children with Down syndrome responded to an anonymous online survey emailed to, and posted on, message boards of various Down syndrome support groups and networks. Data analysis included chi-square tests and thematic analysis. Fifty-nine percent of respondents indicated they would use NIPT in the future; respondents who had not used prenatal testing in the past were significantly less likely to report interest in using NIPT in the future than those who had prenatal testing previously (p?MOST important factor. They also highlight the need to provide a diagnosis of Down syndrome in a balanced and objective manner.     

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.     

Parental Depressive Symptoms as a Predictor of Outcome in the Treatment of Child Depression

Child depression is an impairing condition for which psychotherapies have shown modest effects. Parental depression is a risk factor for development of child depression and might also be negatively associated with child depression treatment outcomes. To explore this possibility, we analyzed data from a study in which children were treated for depression after parental depressive symptoms had been assessed at baseline. Among children treated for depression in a randomized controlled trial, we identified 31 who had child- and parent-report pre- and post-treatment data on child symptoms and parent-report of pre-treatment parental depressive symptoms. Children were aged 8–13, 77% boys, and 52% Caucasian, 13% African-American, 6% Latino, and 29% multi-racial. Analyses focused on differences in trajectories of change (across weekly measurements), and post-treatment symptoms among children whose parents did (n = 12) versus did not (n = 19) have elevated depressive symptoms at baseline. Growth curve analyses showed markedly different trajectories of change for the two groups, by both child-report (p = 0.03) and parent-report (p = 0.03) measures: children of parents with less severe depression showed steep symptom declines, but children of parents with more severe depression showed flat trajectories with little change in symptoms over time. ANCOVAs showed lower post-treatment child symptoms for children of parents with less severe depression versus parents with more severe depression (p = 0.05 by child report, p = 0.01 by parent report). Parental depressive symptoms predict child symptom trajectories and poorer child treatment response, and may need to be addressed in treatment.     

Current Lynch Syndrome Tumor Screening Practices: A Survey of Genetic Counselors

An electronic survey of the National Society of Genetic Counselors Cancer Special Interest Group was conducted in July 2011 to assess Lynch syndrome tumor screening programs and identify barriers to implementation. Over half of respondents (52.8 %) reported having a routine Lynch syndrome tumor screening protocol for newly diagnosed colon and/or endometrial cancers, and approximately half of these used a universal approach. There was an increase in the number of those screening over time, especially in the past 3 years. Tumor screening methods varied; 34/53 (64.2 %) started with immunohistochemistry, 11/53 (20.8 %) started with microsatellite instability testing and 8/53 (15.1 %) performed both on newly diagnosed colorectal tumors. Just 21.7 % (23/106) of respondents indicated they have a tumor screening program in place for newly diagnosed endometrial cancers. Written consent is rarely obtained (7.1 %) and the method of how results were returned to the patient was variable among respondents. Prevalent barriers to implementation were concern about cost, bringing key players together and convincing medical staff of the necessity. Use of Lynch syndrome tumor screening is in clinical practice, but protocols vary widely. This survey provides a glimpse of current practices and common barriers, and identifies the need for tumor screening algorithms with outcomes data.     

Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals

Prior to 2013, genetic testing for Ashkenazi Jewish (AJ) individuals primarily consisted of the three-site BRCA1/BRCA2 AJ panel, full sequencing of BRCA1/2, or the Lynch syndrome mismatch repair genes. Multigene panel testing became more widely available in 2013, but limited data are available regarding the impact of multigene panel testing for AJ individuals. Here, we report the frequency of cancer susceptibility gene mutations in a cohort of 427 AJ individuals seen in the Cancer Risk Clinic at The University of Chicago. We found that 29% of affected and 37% of unaffected individuals carried a pathogenic mutation (32% of overall cohort), primarily known familial mutations in BRCA1/2. A minority of mutations were identified in non-BRCA1/2 genes and consisted mainly of AJ founder mutations in CHEK2, APC, and the mismatch repair genes. A panel of AJ founder mutations would have identified the majority (94%) of mutations in clinically actionable genes in both affected and unaffected patients. Based on recent cost-effectiveness studies, offering all AJ individuals a founder mutation panel may be a cost-effective cancer prevention strategy.     

What Do Parents of Children with Down Syndrome Think about Non-Invasive Prenatal Testing (NIPT)?

This study explores the attitudes of parents of children with Down syndrome towards non-invasive prenatal testing (NIPT) and widening the scope of prenatal screening. Three focus groups (n = 16) and eleven individual interviews with Dutch parents (and two relatives) of children with Down syndrome were conducted. Safety, accuracy and earlier testing were seen as the advantages of NIPT. Some participants were critical about the practice of screening for Down syndrome, but acknowledged that NIPT enables people to know whether the fetus is affected and to prepare without risking miscarriage. Many feared uncritical use of NIPT and more abortions for Down syndrome. Concerns included the consequences for the acceptance of and facilities for children with Down syndrome, resulting in more people deciding to screen. Participants stressed the importance of good counseling and balanced, accurate information about Down syndrome. Testing for more disorders might divert the focus away from Down syndrome, but participants worried about “where to draw the line”. They also feared a loss of diversity in society. Findings show that, while parents acknowledge that NIPT offers a better and safer option to know whether the fetus is affected, they also have concerns about NIPT’s impact on the acceptance and care of children with Down syndrome.     

The Integration of Noninvasive Prenatal Screening into the Existing Prenatal Paradigm: a Survey of Current Genetic Counseling Practice

Since its introduction four years ago, noninvasive prenatal screening for fetal aneuploidy (NIPS) has been widely adopted as a screening tool for women at a high risk for fetal aneuploidy. As use expands into the general population, questions arise concerning the integration of NIPS into preexisting screening paradigms. This study aims to examine the use of NIPS in current practice among prenatal counselors, predominantly in the United States, in order to inform strategies for the optimal use of both new and existing screening techniques. We electronically surveyed 208 members of the National Society of Genetic Counselors to ascertain how NIPS is currently being used. Genetic counselors were also queried as to the advantages and disadvantages of offering NIPS to all patients regardless of a priori risk. Results indicate substantial variation in practice regarding which patients are offered NIPS and how counselors have incorporated this technology into existing screening routines. The majority of participants report offering NIPS in conjunction with another method of screening for fetal aneuploidy, indicating that NIPS is being used as an addition rather than as a replacement. These screening methods primarily include nuchal translucency (NT) (45.1 %, n = 78) and first trimester serum screening, with or without an NT (19.7 %, n = 34). Furthermore, the majority report that they would be concerned about losing the clinical value of an NT in a complete transition to NIPS (85.4 %, n = 164). Counselors are evenly split on the merits of expanding the use of NIPS to the general population (con: 55.3 %, n = 105; pro: 44.7 %, n = 85). The lack of consensus suggests that updated practice guidelines might benefit counselors. In addition, respondents emphasized the need to better educate patients and providers about the risks, benefits, and limitations of the test.     

Child Perceptions of Parental Care and Overprotection in Children with Cancer and Healthy Children

The primary aims of this study were to: (a) examine child perceptions of overprotection; and (b) explore how these perceptions relate to child health and adjustment. Children with a prior diagnosis of cancer (n = 205) and children without a history of serious illness (n = 76) reported on parental overprotective and caring behaviors. Children with cancer were recruited from one of four strata based on the elapsed time since their cancer diagnosis (1–6 months; 6–24 months; 2–5 years; >5 years) Children also reported on symptoms of depression, anxiety, and posttraumatic stress. Children with cancer did not differ from healthy children in their perceptions of parental care or overprotection. Child distress was more strongly related to perceptions of care and overprotection than child’s health status. Children with cancer do not report their parents approach to care and protection differently than children without a cancer history. These findings mirror prior research examining parental perceptions of overprotection and suggest that, despite the challenges of parenting a child with serious illness, parental protection is not significantly altered.     

Asian Indian Immigrant and White American Maternal Emotion Socialization and Child Socio-Emotional Functioning

Previous research provides an inadequate account of parental emotion socialization and its relation to child functioning among ethnic minority groups in the United States. This study compared reports of Asian Indian immigrant and White American mothers’ emotion socialization and examined relations between mothers’ emotion socialization and child outcomes in these two groups. Indian immigrant (n = 34) and White American (n = 38) mothers completed measures of child behavior problems and social competence, as well as self-report measures of two types of emotion socialization, responses to children’s negative emotions and emotion expressivity. Children completed a self-report measure of social competence. Results revealed that Indian immigrant mothers were more likely than White American mothers to report responding nonsupportively to their children’s negative emotions. However, reports of mothers’ nonsupportive responses were not related to child outcomes in the Indian immigrant group. In the White American group, reports of mothers’ nonsupportive responses were positively related to child behavior problems. Mothers’ self-reported negative emotion expressivity was positively related to child behavior problems and negatively related to mother-rated child social competence for Indian immigrants, while no significant relation was found between mothers’ negative emotion expressivity and child outcomes for White Americans. Moderation analyses were performed with these variables but were nonsignificant. Results are discussed in the context of cultural influences on emotion socialization and subsequent impact on child functioning.     

Psychometric Properties and Development of the Brief Adolescent Prosocial Perception Scales (BAPPS)

Prosociality represents an important aspect of social functioning in adolescents and is related to the risk of psychological problems. The current paper describes the development and psychometric testing of two new short-form versions of prosocial perceptions named the Brief Adolescent Prosocial Perceptions Scale Self- (BAPPS-S) and Parent-report (BAPPS-P). Parent and child dyads (N = 3,976; 89 % White; aged 11–17 years) took part in a large cross-sectional survey. The BAPPS were completed alongside other measures of prosociality, social support and emotional and behavioural problems. Exploratory (n = 1,988) and confirmatory (n = 1,988) factor analysis supported a single factor solution that is related to, although separate from, conduct disorders. The scales showed good internal consistency and concurrent validity. Moreover, the BAPPS demonstrated incremental validity by accounting for significant variance in clinical outcome measures over and above that explained by existing measures of prosociality. The study demonstrated that the BAPPS have good initial psychometric properties. Potential clinical uses are discussed, including providing valuable information on young people’s strengths and resiliencies that can inform clinical formulation and intervention.     

Inadequate Housing Among Families Under Investigation for Child Abuse and Neglect: Prevalence from a National Probability Sample

This study aimed to estimate the prevalence of inadequate housing that threaten out-of-home placement among families under investigation by child welfare. Data came from the National Survey of Child and Adolescent Well-Being, a nationally representative longitudinal survey of child welfare-involved families. Child protective services caseworkers as well as caregivers provided information on families whose child remained in the home after initial investigation (N = 3,867). Multilevel latent class analyses tested the presence of inadequately housed subgroups using 4 housing problem indicators at baseline. Logistic regressions assessed convergent and predictive validity. A two class latent solution best fit the data. Findings indicated that inadequate housing contributed to risk for out-of-home placement in approximately 16 % of intact families under investigation by child protective services. These families were 4 times more likely to need housing services 12 months later. Federal legislation emphasizes integration of social services as necessary to end homelessness. This study demonstrates overlap across public agencies. Enhanced coordination of child welfare and housing services facilitates interventions to prevent and mitigate homelessness.