Communication of Genetic Information by Other Health Professionals: The Role of the Genetic Counsellor in Specialist Clinics

Many children with chronic genetic diseases are followed by specialty clinics that provide genetic information as part of the care. Health services restrictions in the Republic of Ireland (ROI) can make the wait for an appointment with a genetic counsellor long. We examined whether genetic information was being adequately understood when presented by medical, but non-genetics staff to long term patients, using our national metabolic service as an example. The aim was to inform health professionals about the need or role of a genetic counsellor in a specialist setting. A questionnaire was used to assess knowledge among parents and patients affected by galactosaemia and Maple Syrup Urine Disease (MSUD). Twenty seven families with galactosemia and 10 with MSUD were interviewed in clinic. Comparative analysis showed significant differences in knowledge between parents of children with galactosemia and adult patients (p = 0.001) and between ethnicities (p > 0.05). While parents are well informed, the majority expressed a wish for more information about the condition and its transmission. Adult patients with galactosemia and parents from certain ethnic backgrounds could especially benefit from genetic counselling. This study highlights the need for a genetic counsellor in specialist clinics.     

Predictors of Heart-Focused Anxiety in Patients Undergoing Genetic Investigation and Counseling of Long QT Syndrome or Hypertrophic Cardiomyopathy: A One Year Follow-up

Since Long QT syndrome and Hypertrophic cardiomyopathy are inherited cardiac disorders that may cause syncope, palpitations, serious arrhythmias, and sudden cardiac death, at-risk individuals may experience heart-focused anxiety. In a prospective multi-site study, 126 Norwegian patients attending genetic counseling were followed 1 year with multiple administration of questionnaires, including the Cardiac Anxiety Questionnaire, measuring three distinct symptoms of heart-focused anxiety- avoidance, attention, and fear—in mixed linear analyses. Overall, at 1-year follow-up, patients with clinical diagnosis as compared to patients at genetic risk had significantly higher scores of avoidance (p < .002), attention (p < .005), and fear (p < .007). Sudden cardiac death in close relatives, uncertainty whether other relatives previously had undergone genetic testing, patients’ perceived general health, self-efficacy expectations and procedural satisfaction with genetic counseling were influential in predicting the different symptoms of heart-focused anxiety over time.     

The Stigmatising Implications of Presenting Schizophrenia as a Genetic Disease

This study aimed to investigate the hypothesis that belief in a genetic aetiology of schizophrenia will increase the stigma associated with the disorder. Levels of five potentially stigmatising attitudes were compared in two groups of participants who had read a vignette describing an individual who has schizophrenia. In one group the disorder was explained as being caused by ‘genetic’ factors, and in the other by ‘environmental’ factors. This study found that three of the five potentially stigmatising attitudes measured were increased when participants read a vignette with a genetic causation rather than an environmental causation. Firstly, genetic attributions increased levels of associative stigma towards close relatives (p < 0.001). Secondly, participants viewed recovery as less likely when genetic factors were implicated as causative (p < 0.001). Finally, there was also an increased perception of the character’s “dangerousness” when the condition was explained by genetic factors (p < 0.05). Contrary to previous research was the finding that perceived aetiology had no effect on participant’s desire for social distance from an affected individual. Neither did perceived aetiology influence beliefs about moral accountability. The implications of these findings suggest that genetic counsellors and other health professionals, who are providing genetic information to those affected by schizophrenia should be aware of the possibility that a genetic explanation of schizophrenia could increase potentially stigmatising attitudes towards their clients and their clients’ families. It is also possible that individuals with a diagnosis of schizophrenia may themselves form deterministic interpretations of the genetic information they receive and subsequently be less likely to adopt behavioural advice or adhere to treatment. Counsellors and health professionals should strive to present information in a balanced manner, ensuring recipients understand the multi-factorial causes of the disease.     

Views on Abortion: A Comparison of Female Genetic Counselors and Women from the General Population

While literature characterizing individual genetic counselors’ abortion attitudes is sparse, the National Society of Genetic Counselors takes a clear stance for reproductive autonomy. To determine genetic counselors’ views, this study compared (1) genetic counselors’ abortion attitudes to those of women from the general population and (2) genetic counselors’ professional abortion attitudes to their personal abortion attitudes. Genetic counselors were invited to complete an online survey. Response rate was 44.3% (709/1,601). Compared to women from the general population, female genetic counselors were significantly more likely to agree abortion should be an option in all cases (p < .001). Controlling for other possible confounders, regression analyses revealed that being a genetic counselor, religious service attendance and age were significantly predictive of abortion attitudes. Although the vast majority of genetic counselors agree that abortion should be available, they are significantly less likely to personally consider abortion under all circumstances presented (p < .001), and the percentage of genetic counselors who would consider terminating in the case of a severe birth defect is similar to studies of other women.     

Variables Influencing Pregnancy Termination Following Prenatal Diagnosis of Fetal Chromosome Abnormalities

The objective of this study was to identify variables that may influence the decision to terminate or continue a pregnancy affected by a chromosome abnormality. We performed a retrospective cohort analysis of 286 pregnancies diagnosed with a chromosome abnormality following genetic counseling and prenatal diagnosis. Data obtained included procedure type, chromosome results, ethnicity, maternal age, use of fertility treatments, and uptake of genetic counseling after results, among other factors. Wilcoxon rank sum test, Fisher’s exact test, and univariate and multivariate logistic regression models were used for data analysis. The overall termination rate in this study was 82.9 %. A lower likelihood to terminate was found in pregnancies with a diagnosis of a sex chromosome abnormality (OR 0.05, p?<?.0001), Filipina race (OR 0.10, p?=?.03), and uptake of second genetic counseling session (OR 0.05, p?<?.0001). Prior history of termination was associated with increased likelihood to terminate (OR 8.6, p?=?.02). Factors revealing no statistically significant association with termination included maternal age, gestational age, clinic site, fetal gender, ultrasound anomalies, reason for referral and who informed the patient. Our data affirm the complexity of the decision making process and reinforce that providers should refrain from making assumptions regarding a patient’s likelihood to terminate based on factors such as maternal age, gestational age, type of procedure, or ultrasound.     

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.     

Differences Between African American and White Research Volunteers in Their Attitudes,Beliefs and Knowledge Regarding Genetic Testing for Alzheimer’s Disease

Genetic susceptibility testing for common diseases is expanding, but little is known about race group differences in test perceptions. The purpose of this study was to examine differences between African Americans and Whites in knowledge, attitudes, and motivations regarding genetic susceptibility testing for Alzheimer’s disease (AD). Before enrolling in an AD genetic testing research trial, 313 first-degree relatives of AD patients (20% African American; 71% female; mean age = 58 years) were surveyed regarding: (1) knowledge about genetics and AD risk; (2) concerns about developing AD; and (3) reasons for seeking testing. In comparison to Whites, African Americans were less knowledgeable about genetics and AD risk (p < .01) and less concerned about developing AD (p < .05), with lower levels of perceived disease risk (p = .04). The results suggest that African Americans and Whites differ notably in their knowledge, beliefs, and attitudes regarding genetic testing for AD. Additional research with more representative samples is needed to better understand these differences.     

Prenatal diagnosis and management of intrauterine growth restriction: A long‐term prospective study on outcome and maternal stress

This study examines long‐term effects of antenatal management of intrauterine growth restriction (IUGR) on developmental outcome and on maternal coping using a prospective cross‐sectional design. Sixty‐nine families were evaluated using psychological testing and risk questionnaires. The effects of timing of diagnosis (prenatal/perinatal) and of pregnancy management [induction of labor (IL)/conservative management (CM)/none, i.e., diagnosed‐at‐birth (DaB)] on maternal stress were tested at 6 years' postbirth. In general, prenatal management protocols of IUGR were efficient in preventing major disabilities; however, 49% of the variance in maternal stress at 6 years' postbirth could be attributed to the child's presenting behavior and to pregnancy management of IUGR condition. Mothers who received CM treatment reported being more stressed by their child's poor emotional adjustment (ps < .01–.002) and distractibility (p < .029), and to have more difficulty in accepting them (p < .01). Prenatal psychological consultation to better handle stress for parents whose fetus is diagnosed with IUGR is recommended, particularly when pregnancy is managed conservatively and familial–educational resources are low.     

Reading Between the Lines: A Comparison of Responders and Non-responders to a Family History Questionnaire and Implications for Cancer Genetic Counselling

Family history questionnaires (FHQ) are useful tools for cancer genetic counseling, providing an informational basis for pedigree construction and individualized cancer risk assessment. Reported return rates of mailed FHQs amongst familial cancer clinics that utilize them are lower than desired however, and it is unknown whether patients perceive required completion of a FHQ as a barrier to access of cancer genetics services. This study critically evaluated the use of a mailed FHQ for all routine new patient referrals to a single hereditary cancer clinic in Quebec, Canada. Reasons for response/non-response to a FHQ and the effect of administration of a questionnaire on patients’ self-reported level of motivation to pursue genetic counseling, were examined. Of 112 eligible individuals referred during the study period, 86 completed a semi-structured telephone survey; of these, 45% had returned the mailed FHQ prior to the telephone survey (Responders) and 55% had not (Non-responders). Overall, the majority of participants indicated a FHQ is an acceptable and understandable method of collecting family history information. Most prevalent reasons for not returning the FHQ were (bad) timing (56%), and difficulty accessing family history information (46%). Non-response was significantly associated with difficulty in asking relatives for the requested information (p = 0.011), and Non-responders cited fewer overall perceived benefits of cancer genetic counseling as compared with Responders (p < 0.0001). One quarter of Non-responders returned the mailed FHQ following administration of the telephone survey, suggesting implementation of a follow-up prompt is a cost-effective way to increase response.     

In the Eye of the Beholder: Alcohol Use and Perceptions Among Student-Patrons of ‘Joints’ in Three Nigerian University Communities

Alcohol use and its associated problems among university students have attracted empirical investigation by researchers and scholars. While many of these studies have reported a very high level of alcohol consumption and highlighted the various problems this portends, alcohol-related perceptions of this vulnerable population, which could be germane to intervention aimed at curtailing the problem, have remained largely under-researched. This cross-sectional survey examined the use and perceptions of alcohol by student-patrons (n = 1,705) of beer parlours or ‘joints’ in three university communities in Southwest Nigeria. Respondents were interviewed using AUDIT, a socio-demographic prototype and an open-ended section on alcohol-related perceptions of the students. Findings indicated that overall, 72% of the respondents perceived that alcohol is good for socializing, 68% perceived that alcohol is good in the aspect of stress reduction, 58% believed that alcohol consumption is indicative of maturity, 36% perceived that alcohol enhances their sexual performance while 39% perceived that alcohol serves to enhance alertness/concentration. Results also showed that gender (β = −. 23; p < .05), paternal alcohol use (β = .36; p < .01), parental socio-economic status (β = .33; p < .01), and residential status of university of respondents (β = .21; p < .05) significantly predicted alcohol use. The study concluded that perceptions about alcohol are very germane to understanding students’ alcohol use and should be reckoned with in designing intervention programmes. The need to adopt a ‘client-centered’ approach to the problem of student drinking behaviour was emphasized.     

Socioeconomic Status and Psychological Function in Children with Chromosome 22q11.2 Deletion Syndrome: Implications for Genetic Counseling

The purpose of this study is to examine the association between parental socio-economic status (SES) and childhood neurocognition and behavior in children with chromosome 22q11.2 deletion syndrome (22q11DS). Although undoubtedly, the deletion of genes in the 22q11.2 interval is primarily responsible for the psychological manifestations, little is known about the role of the environment in either mitigating or contributing to these problems. We examined the association of parental socio-economic status (SES) with cognition and behavior in children with 22q11DS (n = 65) and matched healthy control subjects (n = 52), since SES is a component of family resources. We found that in children with 22q11DS, higher SES correlated with better overall functioning (p < .01) and social skills (p < .01), and less frequent oppositional defiant behavior (p < .001). These findings were in contrast to the control subjects in whom SES correlated with cognition and achievement, but not behavior. Our results indicate that environmental factors influence the behavioral phenotype in children with 22q11DS, providing a framework for developing appropriate interventions. As such, genetic counseling for families with 22q11DS may include consideration of family resources and inclusion of other health professionals, such as social workers, to explore with the family available social supports and resources.     

An Evaluation of the Relation Between Distress Tolerance and Posttraumatic Stress within a Trauma-Exposed Sample

The present investigation examined the incremental associations between distress tolerance, or the perceived capacity to tolerate emotional distress, and global posttraumatic stress symptom severity as well as symptom cluster severity, beyond the variance accounted for by number of trauma exposure types and negative affectivity. The sample consisted of 140 adults (72 women; M _age = 25.9, SD = 11.1) who endorsed exposure to traumatic life events, as defined by posttraumatic stress disorder diagnostic criterion A (American Psychiatric Association 2000). Participants did not meet diagnostic criteria for current axis I psychopathology. Distress tolerance demonstrated significant incremental associations with global posttraumatic stress symptom severity (p < .01) as well as re-experiencing (p < .05), avoidance (p = .05), and hyperarousal (p < .001) symptom cluster severity. Given the cross-sectional study design, causation cannot be inferred. Theoretical implications and future directions for better understanding associations between distress tolerance and posttraumatic stress are discussed.     

Acculturation and Familiarity With, Attitudes Towards and Beliefs about Genetic Testing for Cancer Risk Within Latinas in East Harlem, New York City

Recent research underscores the need for increasing use of genetic testing for cancer risk in Latinos. This study examined the influence of acculturation on attitudes, beliefs about and familiarity with genetic testing for cancer risk in a community-based sample of Latinas in East Harlem, New York City (N = 103). Multivariate linear regression models analyzed the relationship of acculturation to: (1) familiarity (2) perceived benefits (3) perceived barriers and (4) concerns about abuses of genetic testing for cancer risk. Controlling for sociodemographic factors, results revealed that with increasing acculturation Latinas were more familiar with genetic testing (β = 1.62, SE = 0.72, p = 0.03), more likely to cite perceived benefits (β = 1.67, SE = 0.79, p = 0.04), and less likely to report perceived barriers related to genetic testing (β = −2.76, SE = 1.64, p = 0.10). Study results may help inform the development of culturally-appropriate health education outreach materials and programs targeted to increase awareness, knowledge and understanding about genetic testing for cancer risk within Latinas.     

Decisions About Testing and Termination of Pregnancy for Different Fetal Conditions: A Qualitative Study of European White and Pakistani Mothers of Affected Children

The aim of this study is to explore reasons for and against prenatal testing and termination for a range of conditions in women from two different ethnic backgrounds. A total of 19 Pakistani and European women in West Yorkshire, UK, who either had a child with a genetic condition or had terminated a pregnancy for one, completed a questionnaire about their attitudes regarding prenatal testing and termination for 30 different fetal conditions and were interviewed about their reasons for their responses. There were more similarities than differences between the Pakistani and European white women. The most important factor in most women’s decisions about termination of pregnancy was their perception of the quality of the life of a child with the genetic condition, in particular, whether the child would be “suffering.” This was described as either physical suffering, as a result of medical treatment, or as emotional suffering, as a result of psychological and/or social factors. These findings highlight the need for detailed information about the potential quality of life for the child and the child’s family to enable parents to make informed choices, particularly the extent to which the child is likely to suffer, the nature of such potential “suffering” and the extent to which the child could lead a “normal” life. The findings also challenge stereotypes about cultural differences in attitudes about termination of pregnancy.     

The Utility of Genetic Counseling Prior to Offering First Trimester Screening Options

In order to evaluate the utility of genetic counseling at the time of first trimester screening in patients with no previously identified genetic concerns, we reviewed family history data for 700 women seen for genetic counseling in Utah during 2005-2006. The mean maternal age was 35 years (Range: 16–47 years). The majority of patients seen were non-Jewish Caucasians (90.8%, 634/700). A three-generation pedigree was obtained from each woman by one of two certified genetic counselors and subsequently classified as “negative” (no birth defects/genetic disorders); “positive” (birth defect or genetic condition with a minimal/low risk of recurrence; additional evaluation/genetic testing during pregnancy not indicated); or “significant” (birth defect or genetic condition with an increased risk of recurrence; additional evaluation/genetic testing during the pregnancy indicated). About 72% (501/700) of the histories were negative, 19% (134/700) were positive, and about 9% (65/700) were significant. Among patients with significant family histories, 66% (n = 43) were women less than 35 years of age. We conclude that assessing a patient’s family history at the time of first trimester serum screening is a valuable resource for pregnancy management.     

Physical Activity, Life Satisfaction, and Self-Rated Health of Middle School Students

Little research has examined the association between life satisfaction, self-rated health (SRH), and physical activity concurrently for middle school students. A convenience sample of 245 students in grades 7 and 8 was surveyed about physical activity, life satisfaction, and SRH using the U.S. Centers for Disease Control and Prevention (CDC) 2005 Middle School Youth Risk Behavior Survey. ANOVA analyses revealed significantly reduced life satisfaction for females who reported not engaging in vigorous physical activity during the past 7 days [p < .01, effect size (ES) = .75]. Significantly reduced life satisfaction was detected for both males (p < .001, ES = .66) and females (p < .0001, ES = .80) who reported not playing on sports teams. Additionally, logistic regression analyses showed the odds of reporting fair/poor SRH increased 5.4 times for males (CI = 1.30–22.39, p < .05) and 30.9 times for females (CI = 3.74–255.43, p < .001) who reported not playing on sports teams. Preliminary findings suggest physical activity and sports participation is associated with improved life satisfaction and SRH for middle school students. In addition, although some gender differences were observed, consistent findings for sports participation suggest sports participation may carry multiple social, mental, and physical benefits for youth.     

Autism Spectrum Symptomatology in Children: The Impact of Family and Peer Relationships

This study examines the potential impact of family conflict and cohesion, and peer support/bullying on children with autism spectrum disorder (ASD). While such impacts have been established for a range of non-ASD childhood disorders, these findings may not generalize to children with ASD because of unique problems in perspective-taking, understanding others’ emotion, cognitive rigidity, and social reasoning. A structural model-building approach was used to test the extent to which family and peer variables directly or indirectly affected ASD via child anxiety/depression. The sample (N = 322) consisted of parents of children with ASD referred to two specialist clinics. The sample contained parents of children with Autistic Disorder (n = 76), Asperger Disorder (n = 188), Pervasive Disorder Not Otherwise Specified (n = 21), and children with a non-ASD or no diagnosis (n = 37). Parents completed questionnaires on-line via a secure website. The key findings were that anxiety/depression and ASD symptomatology were significantly related, and family conflict was more predictive of ASD symptomatology than positive family/peer influences. The results point to the utility of expanding interventions to include conflict management for couples, even when conflict and family distress is low. Further research is needed on the potentially different meanings of family cohesion and conflict for children with ASD relative to children without ASD.     

Genetic Counselors’ Experiences with Adolescent Patients in Prenatal Genetic Counseling

Adolescents comprise a portion of women who present to genetic counselors prenatally. In this study, prenatal genetic counselors (N = 128) were surveyed regarding their perceptions of genetic counseling sessions for adolescent (ages 13–19) and adult (ages 20–34) patients. Counselors perceived differences in methods used to communicate risk information for adolescent versus adult populations. Respondents reported that it is more difficult for adolescents to understand prognostic information than adults. They also noted differences between adult and adolescent populations with respect to the people who typically accompany the patient to the session. Respondents stated that adolescents were accompanied by a parent, friend, or sibling, which differed from adults who reportedly were accompanied by a significant other, father of the pregnancy, or by no one. These findings suggest it is important to recognize that adolescent patients are in a unique stage of their development which may influence a prenatal genetic counseling session.     

Educational Needs of Primary Care Physicians Regarding Direct-to-Consumer Genetic Testing

To assess the educational needs of North Carolina primary care physicians (PCPs) about direct-to-consumer (DTC) genetic testing, surveys were mailed to 2,402 family and internal medicine providers in North Carolina. Out of 382 respondents, 323 (85%) felt unprepared to answer patient questions and 282 (74%) reported wanting to learn about DTC genetic testing. A total of 148 (39%) were aware of DTC genetic testing. Among these, 63 (43%) thought DTC genetic testing was clinically useful. PCPs who felt either unprepared to answer patient questions (OR = 0.354, p = 0.01) or that DTC genetic testing was clinically useful (OR = 5.783, p = 0.00) were more likely to want to learn about DTC genetic testing. PCPs are interested in learning about DTC genetic testing, but are mostly unaware of DTC testing and feel unprepared to help patients with DTC testing results. Familiar and trusted channels that provide the information and tools PCPs need to help answer patient’s questions and manage their care should be used when creating educational programs.