Genomics England's Newborn Genomes Programme will explore the benefits, practicalities, and challenges of sequencing the whole genomes of newborn babies in the UK. Genomic data from newborns could potentially be used to develop diagnostics and treatments for hundreds of diseases, particularly rare conditions.
The event 'Whole Genome Sequencing at Birth: What Research Can, and Should, Be Done with a Baby's Genome?' was produced by the Progress Educational Trust (PET) in partnership with Genomics England, and was chaired by PET's director Sarah Norcross. 'This pilot, offered through the NHS, will be a marriage of clinical care and research', explained Sarah as she opened the event.
The first speaker was Neena Modi, professor of neonatal medicine at Imperial College London. She began by praising the Newborn Genomes Programme as a landmark study, saying that embedding the programme in the NHS will help to achieve equity of access. An NHS setting will also help ensure that heed is paid to duty of care – in relation to patients, their families and wider society.
Professor Modi outlined how significant the programme could be for clinical care, presenting some sobering statistics. About 100,000 newborns enter 200 neonatal units in the UK each year for specialist care, and on average there is one death each week in a unit.
Each day, around ten children are born with a treatable rare disease. Their symptoms can appear similar to symptoms of common diseases, meaning that there is often a delay in making the correct diagnosis. In the meantime, the disease can cause irreversible damage to the child. More than 80 percent of rare diseases have a genetic component that whole genome sequencing (WGS) could help to diagnose more swiftly.
Besides rare diseases, genomic data could enhance our understanding of the genetic basis of non-communicable conditions such as obesity and heart disease, which have been increasing in the UK and occurring at earlier ages. Still, Professor Modi warned, we must always be cognisant that screening programmes have the potential to cause harm. For better and for worse, genomic data collected from an individual could be of lifelong relevance to them, their existing family and their future children.
The second speaker was Dr Imran Kausar of Novartis Gene Therapies, who provided an industry perspective. Novartis wants to create beneficial therapies for diseases that affect adults or children, he said, but the majority of licensed medicines are for adult conditions, and there are hardly any that have been developed specifically for neonates.
The potential of the Newborn Genomes Programme to bridge that gap can't be overstated, said Dr Kausar, explaining that the best way to gain a detailed understanding of a genetic disease is to have access to a patient's data over a period of time. This helps to identify which aspects of the disease process should be targeted by therapies, and how.
Dr Kausar commented that the 100,000 Genomes Project had been important for Novartis, for several reasons including the creation of a successful system for explaining and taking consent, which be challenging where genomic data is concerned (see BioNews 1127). 'For swift, efficacious drug development, industry is committed to working in a transparent manner with regulatory bodies around the world', he concluded.
The third speaker was Michelle Mackie, head of Ipsos MORI's Qualitative Research and Engagement Centre. Since 2015, she and her colleagues had conducted several public engagement exercises concerning healthcare data, genomic and otherwise.
Mackie explained that the members of the public are sometimes surprised to learn that genome sequencing technology actually exists, and is currently in use. They tend to see considerable value in using genomic data to benefit individuals, wider society and the NHS, but they also have accompanying concerns.
Some of these concerns relate to the fact that genomic data is seen as private, sensitive and potentially very valuable. The use of such data to reveal causes of certain problems can be perceived as intrusive, but generally people are able to accept a tradeoff between absolute privacy and potential benefits.
There are, however, some red lines. Mackie's work has established that the public is opposed to using genomic data for genetic engineering, surveillance, political ends, discrimination (for example in relation to insurance), coercion or targeted marketing. People with rare diseases tend to be more clued up about potential misuses of their data, and some have had the experience of commercial companies trying to exploit their health status and marketing products to them.
Mackie added that in a public dialogue exercise (in which she was not involved) conducted for Genomics England last year, which explored public views of the sequencing of newborn babies' genomes (see BioNews 1103), there was a desire for an effective and dynamic consent process whereby responsibility for consenting would be transferred to the children once they come of age.
The final speaker was Michael Parker, professor of bioethics at the University of Oxford and chair of Genomics England's ethics advisory committee. 'There should and will be an ethics and social science research programme built into this', he said of the Newborn Genomes Programme.
Professor Parker discussed the challenges involved in combining research with clinical practice, when each of these endeavours has its own distinct ethical considerations. He outlined two different models for innovation in healthcare. In one version, a minimal viable product is released and then refined. In the other, such as in a clinical trial, a complete product is only released once development has been entirely finished.
'We need the Newborn Genomes Programme to fall somewhere between these two models', he said, 'to help form a model for ethical innovation – flexible and dynamic, but also trustworthy'.
By this point in the event, more that 30 questions had been submitted by audience members. Joining in to field questions was Dr Richard Scott, Genomics England's chief medical officer. He clarified that it would be at least a year before anyone was recruited into the Newborn Genomes Programme, and that Genomics England is holding various dialogue exercises now and in coming months (including events produced with PET) to understand what uses of genomic data people consider acceptable and desirable.
The most popular question from the audience (members of whom could vote for the questions they wanted to be answered) conderned whether children would be expected to re-consent to use of their data when they became adults. Professor Parker said that children should be brought into the process as much as possible, and should indeed re-consent as adults – although by then, he noted, their data may already have been used in some studies.
Mackie said that in her experience, it can become harder to keep participants engaged once they reach adulthood and have other interests and responsibilities. Professor Modi said that her own research group had found young people did not want to be bombarded with endless queries. They wanted to feel part of the process, provided with information to access in their own time and with assurance that their data is being used in a meaningful way.
Professor Modi said that the young people in her study seemed far more comfortable sharing personal data than their parents. These young people also suggested providing parents with information about health data to hand to children, once the children are able to understand it.
Another audience question concerned whether the UK public feels differently about data being used outside the country. Dr Scott said that overseas researchers accessing the data will have to be considered trustworthy by the participant-led review committee.
The public recognises that pharma companies are global companies, said Mackie. In current public engagement projects, the conversation has moved past whether people want their data to be used, to how they want it to be stored and accessed.
Dr Kausar agreed that it was a misconception that people's individualised, identifiable genomic data will travel to some unknown, faceless institute across the world. He suggested that a lot of concern can be assuaged by better explaining that data is shared in aggregated form.
Another question probed why all newborns should be screened, rather than selectively screening those that show symptoms. Professor Modi emphasised that it is better to prevent conditions and diseases, rather than just treating them after damage has begun.
Why was newborn data needed, rather than adult data? Dr Kausar explained that some diseases only happen in very young children, and that medicines are metabolised by adults differently from young children, so data isn't always comparable. It was emphasised that medicines for newborns must be made as safe as possible.
How will we avoid discrimination against people with genetic disabilities, if genomic data is used to make reproductive choices? Professor Parker said we must involve people with disabilities and advocacy groups in relevant processes and discussions. When parents are given information, implications must be discussed in a non-directive way that refrains from framing available decisions as either right or wrong.
Will genetic counselling be offered to parents taking part, and to the newborns themselves once they come of age? 'Absolutely', said Dr Scott. 'We're exploring who should do that, and in what format to deliver it'. And as for how the NHS will cope with this, Norcross concluded that this would be specifically addressed at a follow-up event.
PET is grateful to Genomics England and its Newborn Genomes Programme for supporting this event.
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