ACMG Policy Statement: technical report: ethical and policy issues in genetic testing and screening of children

1] Department of Pediatrics, University of Chicago, Chicago, Illinois, USA [2] Department of Medicine, MacLean Center for Clinical Medical Ethics, University of Chicago, Chicago, Illinois, USA [3] Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 7.33). 03/2013; 15(3):234-45. DOI: 10.1038/gim.2012.176
Source: PubMed


The genetic testing and genetic screening of children are commonplace. Decisions about whether to offer genetic testing and screening should be driven by the best interest of the child. The growing literature on the psychosocial and clinical effects of such testing and screening can help inform best practices. This technical report provides ethical justification and empirical data in support of the proposed policy recommendations regarding such practices in a myriad of settings.Genet Med 2013:15(3):234-245.

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    • "Children from families in which a causative mutation has been identified for autosomal dominantly inherited cardiac diseases may be offered predictive genetic testing (PGT) at an age when cardiologic surveillance and preventive treatment are indicated (European Society of Human Genetics 2009; Borry et al. 2009; Ross et al. 2013). In most cases the manifestations of these cardiogenetic diseases and in particular sudden death can effectively be postponed or prevented with lifestyle modifications , devices like an internal defibrillator or pacemaker, or use of medication (Smets et al. 2008). "
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    ABSTRACT: Knowledge on children's capacities to consent to medical treatment is limited. Also, age limits for asking children's consent vary considerably between countries. Decision-making on predictive genetic testing (PGT) is especially complicated, considering the ongoing ethical debate. In order to examine just age limits for alleged competence to consent in children, we evaluated feasibility of a standardized assessment tool, and investigated cutoff ages for children's competence to consent to PGT. We performed a pilot study, including 17 pediatric outpatients between 6 and 18 years at risk for an autosomal dominantly inherited cardiac disease, eligible for predictive genetic testing. The reference standard for competence was established by experts trained in the relevant criteria for competent decision-making. The MacArthur Competence Assessment Tool for Treatment (MacCAT-T) served as index test. Data analysis included raw agreement between competence classifications, difference in mean ages between children judged competent and judged incompetent, and estimation of cutoff ages for judgments of competence. Twelve (71 %) children were considered competent by the reference standard, and 16 (94 %) by the MacCAT-T, with an overall agreement of 76 %. The expert judgments disagreed in most cases, while the MacCAT-T judgments agreed in 65 %. Mean age of children judged incompetent was 9.3 years and of children judged competent 12.1 years (p = .035). With 90 % sensitivity, children younger than 10.0 years were judged incompetent, with 90 % specificity children older than 11.8 years were judged competent. Feasibility of the MacCAT-T in children is confirmed. Initial findings on age cutoffs are indicative for children between the age of 12 and 18 to be judged competent for involvement in the informed consent process. Future research on appropriate age-limits for children's alleged competence to consent is needed.
    Journal of Genetic Counseling 04/2015; DOI:10.1007/s10897-015-9835-7 · 2.24 Impact Factor
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    • "Currently, international guidance advises postponing childhood autosomal recessive carrier testing due to a possible detrimental psychosocial impact on children's wellbeing and potential stigmatization (Borry et al. 2006; Ross et al. 2013). Similarly, the UK's CF and SCD NBS programs recognize that there may be negative implications from disclosing carrier results through NBS (NHS Sickle Cell and Thalassaemia Screening Programme, 2012a; NHS Newborn Blood Spot Screening Programme, 2014). "
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    ABSTRACT: International carrier testing guidelines discourage testing in childhood to preserve autonomous decision making and prevent detrimental psychosocial consequences. Despite the discouragement of autosomal recessive carrier testing during childhood, some sickle cell disease (SCD) or cystic fibrosis (CF) carriers are incidentally identified through UK and international newborn screening (NBS). This creates a scenario where parents may have knowledge of their newborn's, but not older child's carrier status. In addition, there is wide variation in the identification of CF and SCD carriers due to the screening technologies implemented by different NBS programs. The current and future availability of childhood testing are determined to some extent by the impact of testing on children and parents (whether this is beneficial or detrimental to wellbeing). However empirical research informing carrier guidance and practice is conflicting. Echoing previous calls, this discussion highlights the need for further qualitative and longitudinal research with children to consider the psychosocial impact of carrier testing on children and role of disclosure from parents on adaptation to results. It is recommended that professionals aim to minimize harms resulting from carrier identification by providing support for parents and children following NBS. Support for non-genetics specialists from genetic counselors to enable discussion of carrier results with children is suggested.
    Journal of Genetic Counseling 07/2014; 23(5). DOI:10.1007/s10897-014-9740-5 · 2.24 Impact Factor
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    • "But some authors have noted potential benefits: early detection, tailored medication and reduced stigmatization by self and by family members (Erickson and Cho 2011; Hoop et al. 2010; Laegsgaard et al. 2009; Meiser et al. 2008; Miklowitz and Chang 2008). Professional society guidelines advocate avoiding genetic testing of children for adult-onset diseases unless early and effective treatment is available (American Society of Human Genetics 1995; Borry et al. 2006; Parker 2010; Ross et al. 2013; National Society of Genetic Counselors 2012). However, mood disorders often start during childhood or adolescence, and although treatment outcomes are highly variable, there are reports that early interventions using individual, family- or school-based therapy might improve the course of illness in children with early symptoms (Garber et al. 2009; Miklowitz and Chang 2008). "
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    ABSTRACT: 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. Electronic supplementary material The online version of this article (doi:10.1007/s10897-014-9710-y) contains supplementary material, which is available to authorized users.
    Journal of Genetic Counseling 03/2014; 23(4). DOI:10.1007/s10897-014-9710-y · 2.24 Impact Factor
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