Parental Attitudes,Beliefs, and Perceptions about Genetic Testing for FAP and Colorectal Cancer Surveillance in Minors

Familial adenomatous polyposis (FAP) is the second most common hereditary colorectal cancer syndrome and confers a nearly 100% lifetime risk of developing colorectal cancer. Understanding factors that facilitate and inhibit genetic testing and cancer surveillance in children who are members of families affected by FAP will better equip clinicians to clarify misunderstandings and facilitate appropriate care. The aims of this study were to examine parental attitudes and beliefs regarding endoscopic surveillance and genetic testing in minors at risk for developing FAP. This cross-sectional study includes analyses of qualitative and quantitative interview data collected from parents of children with or at risk for FAP. This report includes data from 28 parents with a total of 51 biological children between 10–17 years of age. The parents had a clinical and/or genetic diagnosis of FAP. Most commonly reported facilitators included provider recommendation (surveillance) and personalized medical management (genetic testing). Most commonly reported barriers included lack of provider recommendation (surveillance) and cost (genetic testing).     

Genetic Counselors’ Perceived Responsibilities Regarding Reproductive Issues for Patients at Risk for Huntington Disease

Research indicates that health care professionals’ attitudes may affect patients’ decisions regarding prenatal Huntington Disease testing, but few studies have sampled genetic counselors. In this qualitative study, genetic counselors described their experiences counseling individuals at risk for HD regarding reproductive decision-making. Five major research questions were investigated: 1) What are genetic counselor responsibilities? 2) What issues arise for patients and counselors? 3) How do counselors reconcile prenatal testing with presymptomatic testing? 4) To what extent are counselors’ initial expectations of at-risk patients’ beliefs and behaviors met? and 5) What advice would counselors offer to novice practitioners about working with this patient population? Fifteen genetic counselors experienced in counseling individuals at risk for HD participated in a semi-structured phone interview that yielded several themes. For example, participants identified their primary responsibility as information provision; less prevalent were psychosocial support and facilitating decision making. The most common ethical challenge was testing prenatally for HD which also results in presymptomatic testing of minors. Participants were divided about how directive to be in response to this ethical issue and about termination of a gene positive pregnancy.     

Predictive genetic testing for conditions that present in childhood

There is a general consensus in the medical and medical ethics communities against predictive genetic testing of children for late onset conditions, but minimal consideration is given to predictive testing of asymptomatic children for disorders that present later in childhood when presymptomatic treatment cannot influence the course of the disease. In this paper, I examine the question of whether it is ethical to perform predictive testing and screening of newborns and young children for conditions that present later in childhood. I consider the risks and benefits of (1) predictive testing of children from high-risk families; (2) predictive population screening for conditions that are untreatable; and (3) predictive population screening for conditions in which the efficacy of presymptomatic treatment is equivocal. I conclude in favor of parental discretion for predictive genetic testing, but against state-sponsored predictive screening for conditions that do not fulfill public health screening criteria.     

Adolescent autonomy and minors' legal rights: contraception and abortion

During adolescence, dependent children grow into independent and autonomous adults, and it is necessary to make difficult policy judgements about children's rights. Questions that arise include: shoudl minors have the right to work, to marry, to make legal contracts, and to obtain medical care without parental consent; or should parental consent be required by the state in order to protect minors and to preserve parental authority. This discussion focuses upon the area of family planning, a topic of special interest to policymakers because they now face many questions about minor's contraceptive and abortion rights in Congress, in state legislatures, and in the courts. comprehensive response to policy questions about family planning rights for minors would require information about adolescent development, maturity, and autonomy; about teenagers' sexual and contraceptive attitudes and behavior; about the nature of parent-child communication regarding sexual and contraceptive questions; and about politics and values. Many from the legal system want help in answering questions about minors' rights. As little research has been conducted, policymakers can obtain only limited guidance from social scientists. As the policy issue is fundamentally tied to developmental issues, the better the knowledge about the development of cognitive competence, social competence, and autonomy, the easier it will be to make the difficult legal and policy judgements about minor's rights. Regarding minors' access to contraceptives, the situation is somewhat cloudy. There is only 1 state statute that requires parental consent for access to contraceptive medical services, passed in Utah in 1981, and pertaining to services provided with public funds. Yet, common law requires parental consent for any medical treatment (with exceptions for emancipated or mature minors) and "physicians often hesitate to serve young people without first obtaining parental consent because they fear civil liability." The situation is even more cloudy in the case of abortion. The Supreme Court's present position seems to grant emancipated and mature minors access to abortion without a requirement for parental consent or notification, but states may place some requirements for parental involvement upon other minors, as long as these minors have an alternative route to abortion. A thorough search of the literature on adolescent development reveals that the policy questions loom larger than the alternatives. 2 policy alternatives are: to single out a reasonable age below which minors require either parental consent or some form of adult involvement; or treat family planning and fertility control as basic rights which cannot be abridged because of age.     

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.     

A comparison of children who receive and who do not receive permission to participate in research

In a study examining children's social competence in elementary school settings, the authors had the opportunity to compare children who received parental permission to participate to children who did not receive permission. Results indicated that children who were not involved in the study were more likely to be viewed by teachers as having unsatisfactory relationships with peers than children who were in the study. The present results suggest that investigators begin reporting the number of children who do not participate in a given study and begin examining whether minors who receive parental permission differ on important dimensions from minors who do not receive such permission. Ethical considerations of the present study are discussed.     

Huntington Disease: Who Seeks Presymptomatic Genetic Testing,Why and What are the Outcomes?

The aims of this study were to: 1) quantify the characteristics of those seeking presymptomatic testing for HD, 2) identify their motivations for testing, 3) quantify the waiting times between the various steps within the testing process, and 4) quantify the outcomes of testing at a large state-wide genetic testing center in Australia. A review of medical charts for all referrals for presymptomatic testing of Huntington disease received over a 4 year period (2006–2010) was undertaken. A total of 152 cases met the study inclusion criteria; the mean age was 39 years, 46 % were male and 61 % underwent genetic testing. Of the males who were tested there was a non-significant trend towards having an affected mother vs father (62 %, p?=?0.09), whereas females tested were just as likely to have an affected mother or father. The most frequently cited reasons for seeking testing were “family planning”, “plan future”, and “need to know”. Some 11 % deferred testing following the psychological assessment. Of those at 50 % prior risk, 57.5 % tested positive; this was higher than expected and much higher than reported in other studies. The median times from referral to initial appointment, and then to results was 69 days and 144 days respectively. Overall, this review of medical charts shows the depth of information obtainable from routinely collected data and revealed that a high proportion of patients tested positive for HD at this centre.     

Presymptomatic Testing for Neurogenetic Diseases in Brazil: Assessing Who Seeks and Who Follows through with Testing

Diagnostic tests are available to detect several mutations related to adult-onset, autosomal dominant, neurodegenerative diseases. We aimed to describe our experience in a presymptomatic testing program run by the Brazilian Public Health System from 1999 to 2009. A total of 184 individuals were eligible for presymptomatic testing due to a risk for spinocerebellar ataxia (SCA) - SCA3 (80%), Huntington’s disease (11.9%), familial amyloidotic neuropathy (4.3%), SCA1, SCA2, SCA6, or SCA7. Most were women (70%), married (54%), and had children prior to presymptomatic testing (67%). Their mean age at entrance was 34 (SD = 11 years). Educational level was above the average Brazilian standard. After receipt of genetic counseling, 100 individuals (54%) decided to undergo testing; of these, 51 were carriers. Since no individual returned for post-test psychological evaluation, we conducted a subsequent survey, unrelated to test disclosures. We contacted 57 individuals of whom 31 agreed to participate (24 had been tested, 7 had not). Several ascertainment concerns relating to these numerous losses prevented us from generalizing our results from this second survey. We concluded that: decision-making regarding presymptomatic testing seems to be genuinely autonomous, since after genetic counseling half the individuals who asked for presymptomatic testing decided in favor and half decided against it; general characteristics of Brazilians who sought presymptomatic testing were similar to many European samples studied previously; and individuals at risk for SCA3 may be at greater risk of depression. Although no clear-cut reason emerged for rejection of follow-up psychological sessions after presymptomatic testing, this finding suggests adjustments to our presymptomatic testing program are necessary.     

Constructing Commitment: Brandom's Pragmatist Take on Rule‐Following

According to a standard criticism, Robert Brandom's “normative pragmatics”, i.e. his attempt to explain normative statuses in terms of practical attitudes, faces a dilemma. If practical attitudes and their interactions are specified in purely non‐normative terms, then they underdetermine normative statuses; but if normative terms are allowed into the account, then the account becomes viciously circular. This paper argues that there is no dilemma, because the feared circularity is not vicious. While normative claims do exhibit their respective authors' practical attitudes and thereby contribute towards establishing the normative statuses they are about, this circularity is not a mark of Brandom's explanatory strategy but a feature of social practice of which we theorists partake.     

Offering predictive testing for Huntington disease in a medical genetics clinic: Practical applications

Predictive testing for Huntington disease is presently offered in a select few medical genetics centers in the United States. This is in part due to the labor intensive counseling and psychological testing suggested by the research protocols. We discuss some specific suggestions for establishing programs for Huntington disease predictive testing within pre-existing medical genetics clinics to encourage more centers to offer presymptomatic testing. This will allow more at risk individuals the opportunity to consider predictive testing and cut down the expenses of traveling to the few predictive testing centers that currently exist. The counseling principals will remain similar to those discussed here, even following the identification of the Huntington disease mutation.     

Whose harm? Which metaphysic?

Douglas Diekema has argued that it is not the best interest standard, but the harm principle that serves as the moral basis for ethicists, clinicians, and the courts to trigger state intervention to limit parental authority in the clinic. Diekema claims the harm principle is especially effective in justifying state intervention in cases of religiously motivated medical neglect in pediatrics involving Jehovah’s Witnesses and Christian Scientists. I argue that Diekema has not articulated a harm principle that is capable of justifying state intervention in these cases. Where disagreements over appropriate care are tethered to metaphysical disagreements (as they are for Jehovah’s Witnesses and Christian Scientists), it is moral-metaphysical standards, rather than merely moral standards, that are needed to provide substantive guidance. I provide a discussion of Diekema’s harm principle to the broader end of highlighting an inconsistency between the theory and practice of secular bioethics when overriding religiously based medical decisions. In a secular state, ethicists, clinicians, and the courts are purportedly neutral with respect to moral-metaphysical positions, especially regarding those claims considered to be religious. However, the practice of overriding religiously based parental requests requires doffing the mantle of neutrality. In the search for a meaningful standard by which to override religiously based parental requests in pediatrics, bioethicists cannot avoid some minimal metaphysical commitments. To resolve this inconsistency, bioethicists must either begin permitting religiously based requests, even at the cost of children’s lives, or admit that at least some moral-metaphysical disputes can be rationally adjudicated.

     

Autonomy gone awry: a cross-cultural study of parents’ experiences in neonatal intensive care units

This paper examines parents experiences of medical decision-making and coping with having a critically ill baby in the Neonatal Intensive Care Unit (NICU) from a cross-cultural perspective (France vs. U.S.A.). Though parents experiences in the NICU were very similar despite cultural and institutional differences, each system addresses their needs in a different way. Interviews with parents show that French parents expressed overall higher satisfaction with the care of their babies and were better able to cope with the loss of their child than American parents. Central to the French parents perception of autonomy and their sense of satisfaction were the strong doctor–patient relationship, the emphasis on medical certainty in prognosis versus uncertainty in the American context, and the sentimental work" provided by the team. The American setting, characterized by respect for parental autonomy, did not necessarily translate into full parental involvement in decision-making, and it limited the rapport between doctors and parents to the extent of parental isolation. This empirical comparative approach fosters a much-needed critique of philosophical principles by underscoring, from the parents perspective, the lack of emotional work" involved in the practice of autonomy in the American unit compared to the paternalistic European context. Beyond theoretical and ethical arguments, we must reconsider the practice of autonomy in particularly stressful situations by providing more specific means to cope, translating the impersonal language of rights" and decision-making into trusting, caring relationships, and sharing the responsibility for making tragic choices.     

Heuristics and biases in diagnostic reasoning: II. Congruence,information, and certainty

Six experiments were carried out to examine possible heuristics and biases in the evaluation of yes-or-no questions for the purpose of hypothesis testing. In some experiments, the prior probability of the hypotheses and the conditional probabilities of the answers given each hypothesis were elicited from the subjects; in other experiments, they were provided. We found the following biases (systematic departures from a normative model), and interviews and justifications suggested that each was the result of a corresponding heuristic: Congruence bias. Subjects overvalued questions that have a high probability of a positive result given the most likely hypothesis. This bias was apparently reduced when alternative hypotheses or probabilities of negative results are explicitly stated. Information bias. Subjects evaluated questions as worth asking even when there is no answer that can change the hypothesis that will be accepted as a basis for action. Certainty bias. Subjects overvalued questions that have the potential to establish, or rule out, one or more hypotheses with 100% probability. These heuristics are explained in terms of the idea that people fail to consider certain arguments against the use of questions that seem initially worth asking, specifically, that a question may not distinguish likely hypotheses or that no answer can change the hypothesis accepted as a basis for action.     

The Changing Age of Individuals Seeking Presymptomatic Genetic Testing for Huntington Disease

Huntington disease (HD) is a progressive neurodegenerative disorder. Presymptomatic genetic testing allows at-risk individuals to clarify their risk status. Understanding the characteristics and motivations of individuals seeking HD presymptomatic genetic testing better equips genetic counselors and other healthcare professionals to provide comprehensive and personalized care. The aims of this study were to (1) determine whether the average age when individuals seek presymptomatic HD genetic testing has decreased over time, (2) assess motivations for seeking testing, (3) explore whether there is a relationship between age and motivations, and (4) explore genetic counselors’ perceptions of the shift in age. Data from the US HD testing centers (N?=?4) were analyzed. A small but statistically significant decrease in age of individuals seeking presymptomatic testing was observed (p?=?0.045). HD community members (N?=?77) were surveyed regarding presymptomatic testing motivations. Younger individuals were more likely than older individuals to cite “To learn whether or not you would develop HD” and “To make choices about further education or a career” compared to older individuals (p?<?0.05). Conversely, older individuals more frequently cited “To give children a better idea of their risk” (p?<?0.002). Sixteen percent of genetic counselors surveyed (6/37) perceived a change in age of testing. All of these respondents had provided HD testing for ten or more years and anecdotally believed the age at testing has decreased over time. Study results help providers personalize counseling based on patient’s age and serve as a starting point for more research into the relationship between age at testing and motivations for testing.     

From residential care to school: peer relationships at school of minors in residential care

In this study, peer relationships of minors in residential care in a school context are analysed, both from the perspective of the peers and the teachers. Using a sociometric test and an evaluation protocol for teachers in 50 classrooms, a sample of 60 minors in care is compared to a normative sample of 843 minors. The results show that minors in residential care have a higher rate of rejection by their classmates in academic activities, but not for leisure ones. Furthermore, in comparison with the normative sample, they are more frequently described with negative adjectives. There is a high level of agreement between the peer evaluation and that of the teachers in the most visible aspects in the classroom. The implications of these results for the improvement of the adjustment of this group are discussed.