Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction

We investigated whether disclosure of coronary heart disease (CHD) genetic risk influences perceived personal control (PPC) and genetic counseling satisfaction (GCS). Participants (n = 207, age: 45–65 years) were randomized to receive estimated 10‐year risk of CHD based on a conventional risk score (CRS) with or without a genetic risk score (GRS). Risk estimates were disclosed by a genetic counselor who also reviewed how GRS altered risk in those randomized to CRS+GRS. Each participant subsequently met with a physician and then completed surveys to assess PPC and GCS. Participants who received CRS+GRS had higher PPC than those who received CRS alone although the absolute difference was small (25.2 ± 2.7 vs 24.1 ± 3.8, p = 0.04). A greater proportion of CRS+GRS participants had higher GCS scores (17.3 ± 5.3 vs 15.9 ± 6.3, p = 0.06). In the CRS+GRS group, PPC and GCS scores were not correlated with GRS. Within both groups, PPC and GCS scores were similar in patients with or without family history (p = NS). In conclusion, patients who received their genetic risk of CHD had higher PPC and tended to have higher GCS. Our findings suggest that disclosure of genetic risk of CHD together with conventional risk estimates is appreciated by patients. Whether this results in improved outcomes needs additional investigation.     

Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions

Uncertainty is a pervasive characteristic of illness. Yet little is known about the individual or situational factors that contribute to perceptions of uncertainty. The present study aims to examine the factors that contribute to perceived uncertainty among parents of a child with an undiagnosed condition. Two hundred sixty-six parents of a child, or children, affected by an undiagnosed medical condition for at least 2 years completed an electronically administered mixed-methods survey assessing theoretical predictors of perceived uncertainty. Multivariate linear regression analyses were used to identify the relationship of key variables to perceived uncertainty. Parents' perceived control and optimism were negatively associated with uncertainty (B=-4.044, P≤0.001, B=-0.477, P≤0.05). Subjective disease severity was positively associated with perceived uncertainty (B=1.797, P≤0.05). Our findings suggest that parents who experience greater uncertainty feel less control over their child's medical condition, which may lead to less effective coping and poorer adaptation. Parents who are less optimistic or who perceive their child's disease as more severe may benefit most from interventions that target situations where parents perceive the least control, thereby enhancing coping and ultimately, adaptation.     

The perceived personal control (PPC) questionnaire as an outcome of genetic counseling: reliability and validity of the instrument

The perceived personal control (PPC) questionnaire was developed by Berkenstadt and colleagues as an outcome measure for the evaluation of the process of genetic counseling. The present study aimed to further assess the psychometric properties of a Dutch version of the instrument. Data were used from two samples. A reproductive genetic counseling sample (n = 140), which included pregnant and non-pregnant women, and a cancer genetic counseling sample (n = 181), also consisting of women only. Counselees completed questionnaires before and following their first consultation. Besides the PPC these questionnaires addressed counselees' degree of concern, risk perception and satisfaction with the consultation. The following psychometric properties were assessed: acceptability, internal consistency, dimensionality, and validity. The instrument was well accepted as indicated by few missing items. The internal consistency was good for the total PPC (Cronbach's alpha: 0.79-0.81), reasonable for the original subscales of 'decisional' and 'behavioral control' (>0.60), but unacceptable for the subscale of 'cognitive control' (<0.60). The original three-factor solution was not confirmed; a one-factor solution proved most stable. Significant differences between pre- and post-counseling PPC scores support the PPC's construct validity. Concurrent validity was confirmed by positive associations with counselees' satisfaction although non-significant (concern) and unexpected (risk perception) results were also found. When used as a one-dimensional scale, the PPC has its value as an outcome measure in research addressing genetic counseling. However, the instrument's validity needs to be further assessed.     

The value of diagnostic testing for parents of children with rare genetic diseases

PurposeExome sequencing (ES) can rapidly identify disease-causing variants responsible for rare, single-gene diseases, and potentially reduce the duration of the diagnostic odyssey. Our study examines how parents and families value ES.MethodsWe developed a discrete choice experiment (DCE) survey that was administered to parents of children with rare diseases. The DCE included 14 choice tasks with 6 attributes and 3 alternatives. A valuation-space model was used to estimate willingness to pay, willingness to wait for test results, and minimum acceptable chance of a diagnosis for changes in each attribute.ResultsThere were n = 319 respondents of whom 89% reported their child had genetic testing, and 66% reported their child had a diagnosis. Twenty-six percent reported that their child had been offered ES. Parents were willing to pay CAD$6590 (US$4943), wait 5.2 years to obtain diagnostic test results, and accept a reduction of 3.1% in the chance of a diagnosis for ES compared with operative procedures.ConclusionTimely access to ES could reduce the diagnostic odyssey and associated costs. Before ES is incorporated routinely into care for patients with rare diseases in Canada and more broadly, there must be a clear understanding of its value to patients and families.     

Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders

OBJECTIVE: To examine predictors of parenting stress in parents whose children were diagnosed with a biochemical genetic disorder clinically or through newborn screening. METHODS: Parents of 263 children with biochemical genetic disorders (139 identified by newborn screening, 124 identified clinically) completed interviews focused on child health, medical service use, satisfaction with services, parenting stress, and family functioning. RESULTS: Multiple regression analyses suggested that child adaptive functioning, parental satisfaction with support, and difficulties parents experienced meeting their child's health care needs were associated with scores on the Parenting Stress Index (R2 =.51). CONCLUSIONS: Initiatives to improve child adaptive functioning and parental support as well as practical assistance to help parents meet their child's health needs may reduce parental stress and family disruption in this population.     

Educating and counseling of parents of children with attention-deficit hyperactivity disorder

OBJECTIVE: This study surveys the parents' knowledge and attitude about attention-deficit hyperactivity disorder (ADHD), barriers to enrolment for treatment, parents' source of information, reason for delay in treatment, and the first person who suggests the diagnosis of ADHD. METHOD: The subjects of the study were the 119 parents and their children with ADHD. The parents and their children were interviewed and the mothers completed a self-reported questionnaire about ADHD. RESULTS: The knowledge about ADHD was relatively low. Half of them did not agree that ADHD is due to biological and genetic vulnerabilities and causation. Fifty-two percent of all the parents considered ADHD to be the result of parental spoiling. Only 6.2% reported that ADHD relate difficulties would persist for the whole life. About 40% of the respondents considered it as a sign of child independency. The main source of knowledge about ADHD was radio and TV. There were about 1.5 years between the time that the parents were suspected to the ADHD and the time they referred for the first time. The most common reason for the delay was lack of knowledge about where or whom they should refer to. Teachers were the first one who suggested the diagnosis of ADHD in most of the cases. CONCLUSION: Knowledge about ADHD is low and barriers of referral are not usually overcome. PRACTICE IMPLICATIONS: Educating and counseling of the parents should be directed toward emphasizing it as a biological problem, with concerns about its course. Also, targeting of the barriers in delaying the referral is an important issue. Medical personnel, especially GPs should be more informed about ADHD and play more active role in the treatment process.     

Perceived personal control (PPC): A new concept in measuring outcome of genetic counseling

Many researchers have tried to establish criteria for the evaluation of genetic counseling and the assessment of its success. Most studies focused on counseling outcomes mainly educational and reproductive variables. In the present study we introduced the concept of “perceived personal control” (PPC), which captures a wider and more meaningful range of effects of genetic counseling. It was found to be central to coping with health threats and to adapting to a broad spectrum of health problems. This study investigated 154 counseling cases. Counselees were requested to complete pre- and post-counseling questionnaires consisting of a knowledge test, measures of PPC, expectations/evaluations of counseling, and satisfaction with the procedure. Comparisons of mean PPC scores before and after counseling showed significant increases. Higher post-counseling PPC was found among counselees who had been given a definite diagnosis, a specific recurrence risk, and been offered prenatal diagnosis. Post-counseling PPC also correlated with knowledge, satisfaction, counseling evaluations, and expectation fulfillment. The findings suggest that PPC is a valid measure for the evaluation of genetic counseling outcomes. The psychometrically reliable scales developed in this study can become helpful tools for assessing genetic counseling both in research and in clinical practice, helping the counselor evaluate the counseling session and focus on the counselees' needs. Am. J. Med. Genet. 82:53–59, 1999. © 1999 Wiley-Liss, Inc.     

Theory of genetic counseling for rare recessive traits with consanguinity

The theory of assessing genetic risk for rare autosomal recessive traits in the face of extensive consanguinity is explored. A general lemma is proved that justifies the partition of posterior probability and recursive incorporation of it, as a means of reducing the logic of analysis to steps of manageable complexity: the conditions are that either the components should be independent or that each component, as it is added, is conditioned on the occurrence of all earlier components. An example is given of a pedigree in which the tracing of a gene by the method of expected proportions is misleading, and another that points up the importance of the posterior information. Four classes of patterns are identified and appropriate methods devised for handling them: the single consanguineous loop, multiple mutually-external loops, nested loops, and multiple closures. The latter problem may be treated in general by the use of truncated generating functions, with or without the use of matrix methods.     

The questionnaire to parents of children with the Down syndrome: How to inform the parents and psychological responses to counseling

This study determined the experience of 137 sets of parents when they were informed that their child had Down syndrome and how they would have preferred this matter to have been handled. The survey revealed that the majority of parents would have preferred being told as soon as possible, with both of them present, and that they had suspected something wrong at the birth of the child. This information prompted us to analyze critically the parental experiences and to formulate a positive approach, with sensitive, supportive, and progressive counseling.     

Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research

In families affected by an inherited genetic condition, parents face a difficult task of having to communicate genetic risk information to their children. A systematic review of all major health and medical research databases was undertaken using current guidelines to identify original relevant research papers from 1980 to 2007, which explore the issues surrounding parents and their children's communication about inherited genetic risk. A total of 9698 abstracts were found of which 158 research papers were reviewed as potentially relevant. A final 17 papers were identified which met predefined inclusion and exclusion criteria. Using a meta-ethnographic approach, all identified studies' findings were analysed as primary data sources by three researchers, who independently identified the key concepts. A high level of congruence emerged between researchers, and agreed concepts were used to examine similarities and differences between papers. The findings informed the development of a narrative framework exploring the issues that related to parents' explanations of inherited genetic risk to their children, the reasons for sharing information, children's understanding of parents' explanations, the emotions evoked for family members and the support and guidance received from health professionals. Providing information, checking understanding, and explaining and managing the emotional feelings that arise were integral to supporting children's coping with genetic risk information. However, many parents struggled with one or more of these components and required more support specific to the child's developmental stage, and family members' transition of readjustment to the impact of the genetic condition.     

The questionnaire to parents of children with the Down syndrome: how to inform the parents and psychological responses to counseling.

This study determined the experience of 137 sets of parents when they were informed that their child had Down syndrome and how they would have preferred this matter to have been handled. The survey revealed that the majority of parents would have preferred being told as soon as possible, with both of them present, and that they had suspected something wrong at the birth of the child. This information prompted us to analyze critically the parental experiences and to formulate a positive approach, with sensitive, supportive, and progressive counseling.     

Autism spectrum disorders: perceptions of genetic etiology and recurrence risk among Taiwanese parents of affected children

In Taiwan, autism spectrum disorders (ASDs) are an emerging public health concern. The ongoing scientific progress for understanding the genetic etiology of ASD makes it increasingly important to examine how parents of children with ASD perceive the causes and recurrence risk of having another child with ASD. These perceptions may influence their family planning, attitudes toward genetic services, and willingness to take their children for ASD genetic testing. However, previous studies addressing this issue were conducted primarily in Western countries. As culture might shape an individual's views of genetic/genomic disorders, this first‐of‐its‐kind study examined the perceptions of the genetic etiology for ASD and the recurrence risk among Taiwanese parents of children affected with ASD. In‐depth, semi‐structured interviews were conducted among 39 parents having at least one child with ASD. Although the majority of participants believed that ASD has a genetic link, less than half perceived genetic factors as the cause of their own child's ASD. Moreover, most participants articulated their recurrence risk incorrectly. Some parents were concerned about their doctors' limited genomic competencies. To provide parents with better education, counseling, and support for making reproductive decisions, ASD‐related genomic education among Taiwanese physicians is needed.     

Atrial fibrillation: the role of common and rare genetic variants

Atrial fibrillation (AF) is the most common cardiac arrhythmia affecting 1–2% of the general population. A number of studies have demonstrated that AF, and in particular lone AF, has a substantial genetic component. Monogenic mutations in lone and familial AF, although rare, have been recognized for many years. Presently, mutations in 25 genes have been associated with AF. However, the complexity of monogenic AF is illustrated by the recent finding that both gain- and loss-of-function mutations in the same gene can cause AF. Genome-wide association studies (GWAS) have indicated that common single-nucleotide polymorphisms (SNPs) have a role in the development of AF. Following the first GWAS discovering the association between PITX2 and AF, several new GWAS reports have identified SNPs associated with susceptibility of AF. To date, nine SNPs have been associated with AF. The exact biological pathways involving these SNPs and the development of AF are now starting to be elucidated. Since the first GWAS, the number of papers concerning the genetic basis of AF has increased drastically and the majority of these papers are for the first time included in a review. In this review, we discuss the genetic basis of AF and the role of both common and rare genetic variants in the susceptibility of developing AF. Furthermore, all rare variants reported to be associated with AF were systematically searched for in the Exome Sequencing Project Exome Variant Server.     

Dermatoglyphs and chromosome mosaicism in parents of children with trisomy 18.

Parents of patients with Down's syndrome show dermatoglyphic features intermediate between the affected and the normal population. Dermatoglyphs were studied on the parents of 19 cases of trisomy 18, but no similar "intermediate" traits were discovered. The number of cases studied needs to be enlarged before it can definitely be stated that trisomies 18 and 21 differ in this respect.     

Pediatric parenting stress among parents of children with type 1 diabetes: the role of self-efficacy, responsibility, and fear

OBJECTIVE: Parents of children with type 1 diabetes are crucial to promoting positive disease adaptation and health outcomes among these youngsters, yet this success may come at some consequence to parents' own well-being. Little research has examined the stress faced by parents, or explored the psychological and behavioral correlates of their stress. METHODS: One hundred and thirty-four parents of children with type 1 diabetes completed measures of diabetes self-efficacy, responsibility for diabetes management, fear of hypoglycemia, and a recently developed measure of pediatric parenting stress (the Pediatric Inventory for Parents [PIP]; R. Streisand, S. Braniecki, K. P. Tercyak, & A. E. Kazak, 2001). RESULTS: Bivariate analyses suggest that pediatric parenting stress is multifaceted; the frequency of parenting stress is negatively related to child age and family socioeconomic status and positively related to single parent status and regimen status (injections vs. insulin pump). Difficulty of parenting stress is negatively related to child age and positively related to regimen status. In multivariate analyses, a significant portion of the variance in stress frequency (32%) and difficulty (19%) are associated with parent psychological and behavioral functioning, including lower self-efficacy, greater responsibility for diabetes management, and greater fear of hypoglycemia. CONCLUSIONS: Each area of parent functioning associated with pediatric parenting stress is amenable to behavioral intervention aimed at stress reduction or control and improvement of parent psychological and child-health outcomes.     

Satisfaction with genetic counseling: dimensions and measurement

Patient satisfaction has become a significant issue in evaluating medical care, although it has been largely neglected in genetic counseling. A 32-item questionnaire was designed to examine patient satisfaction and was administered to 76 clients in a genetic counseling center, and 56 parents attending a pediatric outpatient clinic (the control group). Factor analysis showed 3 dimensions to satisfaction with genetic counseling: instrumental, affective, and procedural. The general level of satisfaction was found to be lower in the genetic counseling group than in the control group. This finding was interpreted as expressing basic properties of genetic counseling. The most important determinant of satisfaction in both groups was satisfaction with the content of information provided in counseling. Some affective and procedural aspects of genetic counseling were found more satisfying, and more important in determining genetic clients' general sense of satisfaction, as compared to the control subjects.     

Autism genetic testing: a qualitative study of awareness,attitudes, and experiences among parents of children with autism spectrum disorders

PurposeThe goal of this first-of-its-kind qualitative study was to examine the awareness, attitudes, and experiences among parents of autistic children regarding autism genetic testing.MethodsWe conducted in-depth, individual, and semistructured interviews with 42 parents of autistic children with diverse racial/ethnic backgrounds. All interviews were audio-taped, transcribed, and coded into major themes and subthemes.ResultsApproximately one-quarter of participants had two or more autistic children, and about half of them were ethnic/racial minorities. The majority of participants postulated favorable attitudes toward autism genetic testing for three main reasons: early intervention and treatment, identifying the etiology of autism, and informed family planning. Nevertheless, among parents who had taken their children for genetic testing, some expressed frustration and questioned the competency of their providers in interpreting test results. Asian parents and those with a low socioeconomic status expressed lower awareness and tended to have more limited access to autism genetic testing.ConclusionAs health-care providers play a vital role in providing genetic services and education, these professionals should be educated and be sensitive to the needs of parents with autistic children. Further quantitative research is required to examine the effects of socio-demographic factors on parents’ awareness, attitudes, and experiences regarding autism genetic testing.Genet Med 2013:15(4):274–281