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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    • "Authors have also discussed potential harms that are social in nature. These include concerns about stigmatisation around carrier results, the lack of privacy and confidentiality associated with testing in childhood, and how these could lead to insurance and employment discrimination later in life (American Medical Association, 1995; American Society of Human Genetics Board of Directors & American College of Medical Genetics Board ofDirectors, 1995;Borry et al., 2007;British Medical Association, 1998;Clarke, 1994;Clarke and Flinter, 1996; Institute of Medicine Committee on assessing genetic risks,1994;McConkie-Rosell et al., 1999;Nelson et al., 2001;Riordan and Loescher, 2006;Ross et al., 2013). Many of the concerns relating to stigmatisation and ostracisation are based on historical contexts when carrier status has been used to discriminate against particular racial groups such as the mandatory screening for sickle cell disease in African Americans in the 1970s (Markel, 1992). "
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    ABSTRACT: Many international guidelines recommend that carrier testing in minors should be postponed either until the age of majority or until the child can be actively involved in the decision making process. Although a number of high school programs exist which provide carrier screening to adolescents in at-risk populations, recent guidelines published by the American Society of Human Genetics do not advocate this testing. Despite this, there are some circumstances in which carrier testing does occur in minors. This testing might be intentional, in which identification of carrier status is the goal of the test, or unintentional, where carrier status is identified as a by-product of testing. In this review we outline the situations in which carriers may be identified in childhood and the positions of professional guidelines that address carrier testing in children. We then review the arguments for and against carrier testing presented in the literature and compare this to the empirical evidence in this field.
    No preview · Article · Nov 2015 · European journal of medical genetics
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    • "Universal screening of children that includes genetic testing followed by cascade screening of other family members has several advantages. However, as with other monogenic conditions, such approaches do raise ethical concerns and challenges with respect to influences on communication (e.g., non-paternity) [49], interpersonal relationships (e.g., stigma towards children found to have disease) and psychological outcomes (e.g., labelled as high risk negatively influencing life goals) [13,50]. However, the limited research conducted to date has shown that children identified as FH mutation carriers generally cope well515253. "

    Full-text · Article · Oct 2015
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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.
    Full-text · Article · Apr 2015 · Journal of Genetic Counseling
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