Prenatal diagnosis requests for Huntington's disease when the father is at risk and does not want to know his genetic status: clinical, legal, and ethical viewpoints
Abstract:Clinical genetics units of hospitals occasionally receive requests from women for prenatal diagnosis for Huntington's disease when their male partners are at risk and do not want to know their genetic status for the disease. These cases raise significant legal and ethical concerns for the clinical team because such prenatal tests can reveal that the woman's partner has the genetic mutation for Huntington's disease when he does not want this information and may be unprepared for it. In this paper we present cli… Show more
“…Reports summarizing the uptake of prenatal testing for HD in the Netherlands between 1987and 1997(Maat-Kievit et al, 1999 and in the United Kingdom between 1994 and 1998 (Simpson and Harper, 2001) show a decline in the relative number of PNET tests compared with direct prenatal tests after the gene was cloned. However, as predicted, PNET continues to be requested by those not wanting to learn their or their partner's status (Simpson and Harding, 1993;Tassiker et al, 2003). It was not surprising to learn at a later stage that Joe and Francesca had continued to use PNET until they had a second low-risk child.…”
Three case studies are presented to further our understanding of how responsibility is negotiated in families when making decisions about genetic risk. These draw on a model of responsibility generated in a study of reproductive decision-making in families facing Huntington disease (HD) to illustrate the impact of prenatal testing on this process. This involves analyzing: how people present themselves as acting responsibly whether or not they utilize genetic testing; who they feel responsible to in their family and elsewhere; the impact that testing has on these relationships; and, how negotiating responsibility changes over time with repeated use of prenatal testing, changing risk status and maturational changes. Two key findings are: how decision-making is perceived can become as important as what is decided; and, how responsibility is negotiated depends on which of these relationships are prioritized. Implications of the findings for clinical practice are noted and suggestions made for further applications of the model.
“…Reports summarizing the uptake of prenatal testing for HD in the Netherlands between 1987and 1997(Maat-Kievit et al, 1999 and in the United Kingdom between 1994 and 1998 (Simpson and Harper, 2001) show a decline in the relative number of PNET tests compared with direct prenatal tests after the gene was cloned. However, as predicted, PNET continues to be requested by those not wanting to learn their or their partner's status (Simpson and Harding, 1993;Tassiker et al, 2003). It was not surprising to learn at a later stage that Joe and Francesca had continued to use PNET until they had a second low-risk child.…”
Three case studies are presented to further our understanding of how responsibility is negotiated in families when making decisions about genetic risk. These draw on a model of responsibility generated in a study of reproductive decision-making in families facing Huntington disease (HD) to illustrate the impact of prenatal testing on this process. This involves analyzing: how people present themselves as acting responsibly whether or not they utilize genetic testing; who they feel responsible to in their family and elsewhere; the impact that testing has on these relationships; and, how negotiating responsibility changes over time with repeated use of prenatal testing, changing risk status and maturational changes. Two key findings are: how decision-making is perceived can become as important as what is decided; and, how responsibility is negotiated depends on which of these relationships are prioritized. Implications of the findings for clinical practice are noted and suggestions made for further applications of the model.
“…Although an intermediate allele can expand into a reduced penetrant or full penetrant allele in future generations, this fact per se is not a reason for a pregnancy termination. Since 1994 the practice of prenatal diagnosis has been changed considerably and there is much more experience with prenatal testing Some recent papers raise difficult ethical issues New techniques such as non‐invasive testing of fetal DNA in the maternal blood, are the subject of research but are not yet available for clinical use .…”
“…At the time the pre-natal test was requested, the couple was separated. There was clear potential for psychological harm to the partner in this scenario in which the testing team faced complex ethical, legal and counselling challenges (22).…”
Section: The Complexities Of Testing Situations Involving Potential Cmentioning
This study summarizes 10-years' experience of predictive and pre-natal testing and pre-implantation genetic diagnosis (PGD) for Huntington disease (HD) in Australia. Results are presented from 2036 direct mutation predictive tests conducted between January 1994 and December 2003. Thirty-eight per cent of results (776/2036) were positive, 56% (1140/2036) were negative, and 6% (120/2036)) were in the mutable normal (27-35 CAG repeats) or in the reduced penetrance (36-39 CAG repeats) ranges. Ninety-four per cent (1908/2036) and 6% (128/2036) of those tested had prior genetic risks of 50% and 25%, respectively. Twenty-seven per cent (34/128) of those at 25% risk had their genetic status changed to positive, thus revealing the positive status of their at-risk parent. During this period, 63 pre-natal tests were also conducted, and 13 children were born following PGD for HD. Social workers specializing in predictive testing counselling over this 10-year period across Australia identified and summarized particularly challenging counselling issues. These included the interpretation of mutable normal and reduced penetrance range test results, potential conflicts of interest between family members regarding testing decisions, unanticipated consequences of both predictive and pre-natal testing decisions, the importance of following protocols for predictive testing to facilitate long-term adjustment to results, and the potential for genetic discrimination. The identified issues highlight the importance of the protocols for predictive testing and indicate that extension of the international guidelines published in 1994 may be timely.
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