Developing a simple test to identify swiftly neonates with sepsis who carry the genetic variant which means that one dose of the recommended antibiotic, gentamicin, will cause the child to become profoundly deaf looks like an admirable objective. The baby needs antibiotics and needs them within 1 hour of admission to the neonatal intensive care unit. Conventional genetic tests take much longer to yield results. The test being trialled produces results in 25 min; a baby who carries the variant can (...) be treated with a different antibiotic. All the test requires is a gentle swab of the baby’s inner cheek. Babies can be treated for potentially fatal sepsis without the risk that the drugs designed to save their lives will cost them their hearing. Parents and healthcare staff are relieved of worry—a great idea? PALOH is not a trial of the safety or efficacy of the test, only to assess how feasible it will be to carry out this test in a busy NICU, without disrupting the care of the baby. A tiny painless ‘scrape’ will take a sample of DNA—what’s the fuss about? Several other invasive and painful procedures will be carried out without a fuss.1 The problem is DNA. Genetic information must be safeguarded from falling into the wrong hands. In section 45 of Human Tissue Act 2004, Parliament legislated to prohibit non-consensual DNA testing.1 It fits uncomfortably in a statute designed to regulate retention and uses of human material, after revelations that organs and tissue from the …. (shrink)

In this paper, we offer a new account of disability. According to our account, some state of a person's biology or psychology is a disability if that state makes it more likely that a person's life will get worse, in terms of his or her own wellbeing, in a given set of social and environmental circumstances. Unlike the medical model of disability, our welfarist approach does not tie disability to deviation from normal species’ functioning, nor does it understand disability in (...) essentialist terms. Like the social model of disability, the welfarist approach sees disability as a harmful state that results from the interaction between a person's biology and psychology and his or her surrounding environment. However, unlike the social model, it denies that the harm associated with disability is entirely due to social prejudice or injustice. In this paper, we outline and clarify the welfarist approach, answer common objections and illustrate its usefulness in addressing a range of difficult ethical questions involving disability. (shrink)

As a clinical geneticist I have been amazed at the speed of discovery over the past 20 years. The specific genetic causes of thousands of rare genetic conditions have been defined due to improvements in genomic sequencing, computing power and international collaborations to phenotype individuals with similar clinical features. This knowledge has resulted in an increased ability to make accurate molecular diagnoses which informs optimal treatment and clinical care, can remove the need for unnecessary investigations and informs reproductive decision-making. However (...) for any given individual, this genetic testing can often take weeks or months before the initial genetic diagnosis is made within a family. Occasionally genetic information is required more quickly to define a clinical action. For years point of care testing has been a mainstay of clinical care, for example, in confirming pregnancy or monitoring blood glucose. I had been keen to explore scenarios where a genetic POCT could be employed in clinical practice. To me, an obvious example appeared to be neonatal testing to avoid gentamicin-induced hearing loss. Here was a situation where we had known about the genetic …. (shrink)

Genetic testing has historically been performed in the context of chronic disease and cancer diagnostics. The timelines for these tests are typically measured in days or weeks, rather than in minutes. As such, the concept that genetic information might be generated and then used to alter management in the acute setting has, thus far, not been feasible. However, recent advances in genetic technologies have the potential to allow genetic information to be generated significantly quicker. The m.1555A>G genetic variant is present (...) in one in 500 individuals and predisposes to profound hearing loss following the administration of aminoglycoside antibiotics. These antibiotics are used frequently in cases of neonatal sepsis and it is estimated that approximately 180 neonates in the UK are at risk of antibiotic induced hearing loss each year because of this genetic change. Knowledge of this variant in the acute setting would allow clinicians to prescribe alternative antibiotics. The Pharmacogenetics to Avoid Loss of Hearing study will implement a genetic point of care test for the m.1555A>G variant within two major UK based neonatal intensive care units. This represents the first trial of a genetic POCT aimed at altering management in the acute setting. This round table discussion outlines the novel ethical issues faced in the development of this trial and the legal barriers to implementation. We ask five stakeholders to provide their opinions on this trial and their perspectives on the concept of genetic testing in the acute setting.Trial registration numberISRCTN-13704894. (shrink)