Whole Genome Sequencing at Birth: Genomic Data, a Resource from Cradle to Grave?

Genomics England's Newborn Genomes Programme is a pilot study exploring the potential benefits, practicalities, and challenges of offering whole genome sequencing (WGS) for all newborn babies. Should this prospect become reality, a person's genomic data could one day be available from birth and used to inform their healthcare throughout their entire life.

'Whole Genome Sequencing: Genomic Data, A Resource from Cradle to Grave?' was the latest in a series of linked events produced by the Progress Educational Trust (PET) in partnership with Genomics England. Chaired by PET director Sarah Norcross, it tackled the ethical and practical issues raised by the possibility of everyone having a lifelong genome report added to their medical record.

The event started with a presentation from Catherine Joynson, assistant director of the UK's Nuffield Council on Bioethics. Drawing a parallel with the 'heel-prick' blood spots already routinely collected from newborns and saved for researchers to access, she began by asking if a baby's genome was to be analysed at birth, then 'why not save it for later'? She went on to highlight the importance of considering ethics in policymaking in health and medicine, which can result in better policies as well as increasing public trust and support.

Joynson then asked whether a lifetime genomic resource was the best way to address the health and societal challenges we currently face. While there are clear potential benefits of this approach, such as early diagnosis of genetic disorders, she also stressed the importance of involving stakeholders and balancing the potential harms and benefits.

Sabine Starr, a participant in Genomics England's 100,000 Genomes Project (and also a member of a patient oversight panel for that project), provided a patient perspective. She described her experience of receiving a diagnosis of dystonia in young adulthood, after having no previous health issues. Although no cause has yet been identified for Starr's symptoms, she asked the audience to consider a scenario in which the genetic mutation responsible had been identified soon after birth. She felt that both she and her parents would subsequently have lived in fear of what might happen, imagining scenarios far removed from her 'normal healthy life'. Despite these reservations, Starr is broadly supportive of obtaining WGS data from newborns.

Social scientist Professor Felicity Boardman of the University of Warwick, leader of the research project 'Imagining Futures: The Social and Ethical Implications of Genetic Screening', spoke next. Referring to a rapid review exploring public attitudes to WGS in newborns, and referring also to other published evidence, she drew out some common themes. These included 'genetic exceptionalism' – the idea that genetic or genomic data is different from other types of data. Another theme related to a question Starr had raised – when is the right point, in a person's life, for key genetic information about that person to be accessed?

Professor Boardman said that overall, there was evidence that the public supports the use of 'cradle-to-grave' genomic data sharing for wider benefits. However, participants in the studies she discussed also raised potential harms, including issues of consent, potential data breaches and commercial exploitation of genetic data. Concerns about possible discrimination were also expressed, especially by younger people and those from ethnic minority groups. Professor Boardman concluded that more research was needed, especially into the range of views held by different social groups.

The next speaker was Dr Mavis Machirori a senior researcher at the Ada Lovelace Institute and previously a midwife at Imperial College Healthcare NHS Trust. She began with a reminder that WGS data needs to be considered in the context of a healthcare setting. On the issue of obtaining consent for obtaining WGS data for a newborn, she considered the midwifery point of view – what if the person giving birth, and their partner, disagree? To whom should the midwife listen? And what about consent for babies conceived following sperm or egg donation?

Dr Machirori emphasised the need to ensure that the benefits of genomic advances reach all populations, citing a previous study of newborn screening that highlighted the lack of reference genomes for several ethnic minority groups. She also focused on the practical issues of training the workforce, particularly in recording consent and communicating changes to information provided, as new insights are gained.

The final speaker was Phil Booth, an identity and privacy advocate and coordinator of medConfidential. He started by raising concerns that the collection of WGS data from newborns amounted to the creation a 'giant database' in which genetic data could never be truly anonymous, especially not if it was linked to health records.

He also said that a WGS database for healthcare could potentially be used as a forensic database, and asked if the police or the Home Office would be refused access, if they wanted to use the database to identify family members. He argued that even if Genomics England would never countenance such a thing, there was still a risk that the authorities would wield power – if not now, then in future – to override everyone else's objections and safeguards.

Booth highlighted the need for more genetic counsellors, and the practicalities and costs of storing large amounts of data. He ended with a call for caution, saying that a life is a long time, and collecting WGS data for everyone would affect families and communities as well as individuals.

The panel was then joined by Arzoo Ahmed, ethics lead at Genomics England, for a wide-ranging audience Q&A session. This covered issues including consent and when it might end (at death?), the reanalysis of WGS data throughout life, data sharing, and protection from discrimination. The last word went to Starr, who asked researchers to remember that there is always a patient behind the data, urging them to ensure that their research benefits affected people – those alive now, and those born in future.

PET is grateful to Genomics England for supporting this event.