Variant Creutzfeldt–Jakob disease is a fatal, transmissible, neurodegenerative disorder for which there is currently no effective treatment. vCJD arose from the zoonotic spread of bovine spongiform encephalopathy. There is now compelling evidence for human to human transmission through blood transfusions from presymptomatic carriers and experts are warning that the real epidemic may be yet to come. Imperatives exist for the development of reliable, non-invasive presymptomatic diagnostic tests. Research into such tests is well advanced. In this article the ethical implications of (...) the availability of these tests are elaborated and comparisons drawn with predictive genetic testing for Huntington’s disease and screening for HIV. Paramount to considerations is the issue of whom to test, weighing up respect for personal autonomy against obligations to benefit and protect society. A paradigm is proposed similar to that used for HIV screening but with unique features: compulsory testing of all blood/organ donors and individuals undergoing surgery or invasive procedures who have a significant risk of disease transmission. (shrink)

I note with interest the Controversy regarding a baby born free of an inherited predisposition to early onset Alzheimer’s disease through the use of preimplantation genetic diagnosis .1,2 As the medical geneticist for the PGD programme for single gene disorders in Melbourne, Australia, I have seen many couples who have considered PGD for a wide range of genetic conditions. My observation is that many couples look to PGD for “milder” conditions and adult onset conditions for which they are not comfortable (...) to have traditional prenatal diagnosis and termination of pregnancy.An example of this is that in the last 11 years our unit has undertaken 13 prenatal diagnoses for Huntington’s disease from nine couples, whereas in the two years that we have been offering it we have had six requests for PGD for Huntington’s disease and three couples …. (shrink)

Tak Chan presents a hypothetical case where a child affected by trisomy 18 was conceived using in vitro fertilisation , and where the parents requested parentage testing.1 Chan argues that doctors are morally obliged to accede to requests for genetic testing to determine parentage provided that carrying out the test results in a low risk of child abandonment.1Although we also support providing genetic testing to determine parentage in the particular case described by Tak Chan, we are concerned about the implications (...) and practicalities of the proposed ‘risk of abandonment’ test for other parentage determination requests. We offer different arguments for why the parents should be assisted in their request in this particular circumstance.Genetic testing to determine parentage is widely available on a direct-to-consumer basis in many jurisdictions including Australia, and the involvement of a medical practitioner is not necessary to access the test. As Tak Chan points out, ordinarily there are few, if any, medical reasons for determining parentage. In the circumstances where one can envisage a medical reason, for example, to clarify recurrence risk for a genetic disorder in future children, this is generally achievable through specific genetic testing, rather than parentage determination.1 Parentage determination has …. (shrink)

The concept of selecting for a disability, and deafness in particular, has triggered a controversial and sometimes acrimonious debate between key stakeholders. Previous studies have concentrated on the views of the deaf and hard of hearing, health professionals and ethicists towards reproductive selection for deafness. This study, however, is the first of its kind examining the views of hearing children of deaf adults towards preimplantation genetic diagnosis and prenatal diagnosis to select for or against deafness. Hearing children of deaf adults (...) straddle both the deaf and hearing worlds, and this dual perspective makes them ideally placed to add to the academic discourse concerning the use of genetic selection for or against deafness. The study incorporated two complementary stages, using initial, semistructured interviews with key informants as a means to guide the subsequent development of an electronic survey, completed anonymously by 66 individuals. The participants shared many of the same views as deaf individuals in the D/deaf community. The similarities extended to their opinions regarding deafness not being a disability, their ambivalence towards having hearing or deaf children and their general disapproval of the use of genetic technologies to select either for or against deafness. (shrink)