It is not a theory in its own right, however, and it will need to be supplemented by other insights drawn from logic and moral philosophy. protecting ‘Society’ from the consequences of decisions made by family members who have not faced up to their responsibilities, whether the decisions are made actively or by default? Lancet 348:1224–1225 [and pp 221–225, in Genetics, Society and Clinical Practice Harper P and Clarke AJ, Oxford, Bios Scientific Publishers 1997], Hawkins AK, Creighton S, Hayden MR (2013) When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada. the ‘worried well’ of asymptomatic individuals who have been found to carry sometimes pathogenic genetic variants in genes associated with late onset or incomplete penetrance. Does the weight of these arguments change when incidental findings emerge from testing a young child, of which the family would otherwise be unaware? 2013) is contained in this sentence, ‘After careful genetic counselling, it may be ethically acceptable to proceed with predictive genetic testing to resolve disabling parental anxiety or to support life-planning decisions that parents sincerely believe to be in the child’s best interests’. They point out that the prior risk of disease in a healthy foetus is low and this impacts on the interpretation of the findings. In defence of broad consent. Am J Med Genet A 161A:76–81, Newson AJ (2017) 2017. Here, we turn to consider decisions about genetic testing of young children, who are unable to participate in the discussions and decisions about this. Deborah F. Pencarinha. Sociol Health Illn 31:81–97, Kenen RH (1980) Negotiations, superstitions and the plight of individuals born with severe birth defects. Bios Scientific Publishers, Oxford, pp 61–90, Jurgens J, Ling H, Hetrick K, Pugh E, Schiettecatte F, Doheny K, Hamosh A, Avramopoulos D, Valle D, Sobreira N (2015) Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics. In terms of the weight or burden of being a carrier, carrier status for these disorders may be seen as intermediate between the situation in autosomal dominant and autosomal recessive disorders. Ethical guidelines for biomedical research on human subjects. Soc Sci Med 47:1189–1195, Parker M, Lucassen A (2003) Concern for families and individuals in clinical genetics. The disclosure of genetic information by an at-risk adult to their partner, before marriage or reproduction, can also be a very difficult decision (Keenan et al. BMJ Open 6:e010002, Thiele P (2010) He was my son, not a dying baby. 2003; Foster et al. The use of genetic testing in various forms of prenatal diagnosis raises many ethical issues. This could be seen as an invitation to any parents focused on their ‘right to know their child’s genetics’ to claim that they are disabled by anxiety, or that they need to take the child’s genetic status into account in making important decisions (such as, presumably, investment in their education or health). The genetic counseling outcome scale: a new patient-reported outcome measure for clinical genetics services. This brave new future, with few children affected by chromosomal or autosomal recessive disorders, could be represented either as a major triumph or as an inhuman dystopia, in which something vital has been lost. Enabling Care and Social Justice. McConkie-Rosell and Spiridigliozzi (2004) set out a helpful framework while Richards (2006) examines the needs of adolescents in relation to genetic testing. There are also unsettling parallels between foetal sex selection and the low social status of women in some communities, on the one hand, and antenatal screening ‘for’ Down syndrome and the social status of affected individuals in many western countries on the other (Alderson 2001). We would wish to know what they have learned about HD, through experience or in other ways, and perhaps provide additional information about the variability in age of onset and in the pattern of disease. Very helpful research into the experiences of young people at risk of HD draws attention both to the potential benefits of testing and the challenging circumstances faced by some young people (Forrest Keenan et al. However, we may then have to help our patients reassess their situation and revise their decisions in the light of an enhanced understanding of ‘the facts’ and also of their social and family context. The same change has impacted on clinical investigations: it is no longer so difficult to generate sequence information, but it can be very challenging to make useful diagnostic sense of it for the individual patient. AJHG 97:6–21, Botkin JR, Francis LP, Rose NC (2017) Concerns about justification for fetal genome sequencing. Evidence Based Medicine has changed the perception of how one is able to analyse and constructively critique the health care system. New technologies available in the field of medical genetics have … 2015) of a systematic approach to classifying each VUS as being more or less likely to result in disease, using five ‘bins’ to one of which each variant is assigned (not pathogenic; unlikely to be pathogenic; of uncertain pathogenicity; likely pathogenic; definitely pathogenic). Stigma, self-esteem and reproduction: talking with men about life with hypohidrotic ectodermal dysplasia. Ethical Issues in Genetic Counselling Nandor Gabor Than, MD, PhD, Zoltan Papp, MD, PhD, DSc, FACOG (hon.) J Law Med Ethics Winter 2013:899–906, Ross LF, Clarke AJ (2017) A historical and current review of newborn screening for neuromuscular disorders from around the world: lessons for the United States. Such possible consequences of a ‘good’ result may be unanticipated by many if they are not raised in the discussion before testing. This is where the question of ‘balance’ in representation becomes so important but, ultimately, cannot be achieved. However, genes cannot be regarded as separate entities. (2015) for the American Society of Human Genetics ASHG; and Ross et al. 2006). Genetic counselling ethical issues in management of hemoglobinopathies Q1 describe the risk assessment in genetic counselling A1. Foetal sex selection has been shown to occur in some South Asian groups resident in Canada (Urquia et al. 24 Citations. volume 10, pages3–33(2019)Cite this article. Wertz DC Fletcher JC (1988b) Ethics and medical genetics in the United States: A national survey.Am J Med Genet 29:815–827. (2017) reject the claim that NIPWGS would increase parental autonomy. This has greatly increased the capacity of screening in terms of the volume of samples analysed in one laboratory and also the scope of what is screened for: TMS is able to identify a much wider range of different molecules than the previous, chromatography-based methods.