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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 (NICU). 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 (HTA), 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 dead were being retained after postmortem examinations without the consent or knowledge of the deceased or their families. Note that section 45 does not extend to isolated DNA but to possession of bodily material intending that DNA in the material be analysed without consent.2
The origins of section 45 lie in a report of the defunct Human Genetics Commission (HGC) which had proposed a comprehensive set of recommendations to regulate access to personal genetic information.3 The principal concern of the HGC in proposing a new criminal offence was to deter flagrant and/or deceitful violations of genetic privacy. For example, I take a celebrity’s empty wine glass and sell the results of a DNA test revealing that she carries the BRCA 1 gene to the media. The original HGC proposal applied only to non-medical testing. Described as draconian by Laurie et al, section 45 goes further covering any non-consensual DNA test. Unlike the other provisions of the HTA it applies even to DNA extracted from nails or hair.4 Section 45 renders anyone in possession of that material without ‘qualifying’ consent vulnerable to criminal prosecution unless the intended DNA analysis falls within an excepted purpose.
A newborn baby cannot give consent so in conformity to the general principles of law governing treatment of young children, ‘qualifying consent’ may be given by ‘a person with parental responsibility’. Such a person would have the authority to consent both to the test itself and the inclusion of the child’s data in the research study. When a baby is admitted to an NICU, the mother may be ill herself and unable to grant consent, either to the swab that will safeguard the baby from receiving an antibiotic that may result in hearing loss or the inclusion of the baby’s data in the study. What about the father? Assuming that the father is contactable, he only automatically enjoys parental responsibility if he is married to the mother, or named on the birth certificate. At the time when the decision needs to be made about testing the baby, no birth certificate will have been issued nor would staff want to start asking intrusive questions about marital status. At best, both parents will be under great pressure and in deciding that it would be inappropriate to seek consent to the inclusion of the baby in the study at such a time the researchers are probably right. Their solution, what the team called an opt-out model, was to inform parents of the study sometime after the test on the baby had been completed and the infant had received appropriate antibiotics. At this juncture, parents would be informed of their right to withdraw their child’s data from the study, to opt out. The term opt-out in this context may be confusing. It is not akin to the notion of opt-out in the context of transplantation. There is no presumed, or deemed, consent. The decision on participation in the research arm of PALOH is deferred to allow time for parents to be able to make an informed choice. In the meantime, until the parents are approached to make their choice, the problem for the researchers would be that having collected the sample from the baby, they are in possession of bodily material intending to analyse the DNA without qualifying consent, in breach of section 45, unless the research constitutes an excepted purpose as defined in Schedule 4 of the HTA 2004. Schedule 4 sets out the circumstances where a non-consensual DNA analysis is justifiable, for example, detection of crime. Pertinent to PALOH, paragraph 51 of Schedule 4 provides that ‘medical diagnosis or treatment of the person whose body manufactured the DNA’ constitutes an excepted purpose. The initial swab to test the baby to ensure she/he does not receive an antibiotic that might cost the child their hearing is clearly such a purpose. The subsequent research is not.
The study would need to fall within paragraph 10, addressing research in connection with disorders or functioning of the human body. Paragraph 10(a) requires that the bodily material comes from the body of a living person and 10(b) that the research is ethically approved in accordance with another set of regulations made by the secretary of state.2
Paragraph 10(c) further provides that to qualify as an excepted purpose ‘the analysis is to be carried out in circumstances such that the person carrying it out is not in possession, and not likely to come into possession of information from which the individual from whose body the material has come can be identified.’
The data to be transmitted to the researchers and used in the research project must be anonymised so that no member of the research team has or could gain access to identifying information and only the nurses administering the test and staff involved in consequent decisions relating to the treatment of the individual baby have access to such information. There must be, and be shown to be, a ‘Wall’ separating staff who can access the identity of the baby and the research team.
The process required to allow the trial to go ahead may seem onerous when such a good end is planned. That of itself cannot justify a ‘lighter touch’. Careful scrutiny of research which may impact on how personal information is protected is crucial. Two matters need attention. In the light of the development of tests like PALOH which will generate genetic information swiftly potentially altering the care of the patient, legal and ethical models of consent need to be revisited. Section 45 should be reviewed.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Commissioned; internally peer reviewed.
↵Section 45 is one of only two sections of the Act extending to Scotland.
↵Human Tissue Act 2004 (ethical approval, exceptions from licensing and supply of information about transplants) Regulations 2006: para 2.
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