My Lords, as set out in the 10-year health plan, this Government have an ambition to offer newborn genomic testing as part of routine NHS care, subject to evidence gathered through the Generation Study, which is using whole-genome sequencing to test 100,000 newborns for over 200 rare conditions. With advice from the UK National Screening Committee and appropriate funding, genomic testing could be available for all newborns in the UK by 2035.
I thank my noble friend the Minister for that Answer, because this is of course a very serious issue, particularly in the case of babies and minors. There are grave difficulties in obtaining informed consent. Every person may be born with hundreds of genetic mutations potentially associated with fatal diseases, but nearly all are unlikely to cause serious health issues in the vast majority of those carrying such markers. Can my noble friend say what plans the Government have for funding and ensuring properly informed consent in screening programmes? I thank my noble friend Lord Winston for informing my question.
My Lords, the Generation Study is particularly designed to inform policy of the type that my noble friend is rightly concerned with. These are extremely important issues, and I am glad to have spoken to our noble friend Lord Winston about these matters. Perhaps I could give the assurance that the study will test only for treatable conditions, where there is robust evidence that the condition is highly likely to develop within the first five years of life, and suspected positive results are then reviewed and confirmed through further tests. If genomic testing is used within future screening programmes, informed consent will still be required.
My Lords, I draw attention to my interest as chairman of UK Biobank. The value of large-cohort studies is not only in the collection of baseline data, and indeed, in this case, the genome sequences of the 100,000 newborns, but in the opportunity to secure the long-term longitudinal follow-up of participants, so that there is a broader understanding of the change in health and health dynamics.
The Minister mentioned the question of consent with regard to genetic testing, but there is another question of consent, with regard to long-term access to the primary care data of those individuals who have participated in the study. Is the Minister content that there are appropriate arrangements in place with regard to consent to ensure long-term access to primary care data for those individuals?
The noble Lord raises a very good point. Certainly, it is part of how we develop the use of data. I am aware that he did not directly ask me this, but perhaps I might use the opportunity to say that data safety, which I know is a matter of concern to many noble Lords, is absolutely paramount here. We also have absolute regard to conducting studies ethically, but the point about primary care data, its use and its value, as well as its safety, is very well made and one which we are certainly developing still further.
My Lords, while the screening of genomes in newborn infants is of course very important, it is even more important to find a cure for some of these dreadful hereditary diseases—I am thinking particularly of Huntington’s chorea. Does the Minister have any information as to what progress is being made, with a prospect some time, before too long, of having a cure for this dreadful disease?
I am grateful to the noble Lord and will be very pleased to write to him on that specific. Part of this work in the programme we are referring to is on treatable diseases. For example, the Generation Study covers hereditary fructose intolerance, which means that babies would not be able to ingest fructose normally. By identifying it, we can then recommend removing fructose from their daily diet, which is a way of overcoming that condition. So, by spotting the condition early, we can take action. As the noble Lord says, there are indeed a number of areas in which further work needs to be done, but I would be very glad to write to him on the detail.
My Lords, while genome screening of newborns is welcome and could be an important part of the prevention agenda, it raises a number of ethical issues. I will focus on just one: at what stage do you tell someone who has a high probability of getting a medical condition, say in their 40s or 50s, about the probability or even certainty of developing that condition, without causing undue distress or even premature treatment? Can the Minister briefly tell noble Lords about the conversations that are going on in the department about these ethical issues, perhaps with the medical profession, and perhaps write in more detail later?
As I mentioned to the noble Lord, Lord Kakkar, the matter of ethics is crucial in this development. It might help if I restated— I absolutely understand the noble Lord’s point—that that is why the Generation Study, which is directed at newborns, is for treatable conditions that may develop in the first five years of life, not later on. I understand why that would be of concern, and similarly of concern to my noble friend Lord Winston, so I hope that assurance will be helpful.
My Lords, I just want to return to the issue of data and consent and build on the question from the noble Lord, Lord Winston, that the noble Baroness, Lady Thornton, talked about. Given that a newborn child cannot really provide consent for whole-genome sequencing and that the information collected has lifetime implications, what specific measures will the Government take to ensure that a child’s future rights to privacy and autonomy are protected, particularly concerning the storage and potential reidentification of their genetic data in research libraries?
There were a number of very helpful points in there. To reconfirm and satisfy your Lordships’ House, this is for conditions that may develop up to the age of five. As with all screening, consent is required. As the noble Lord rightly says, a baby of course cannot consent, but the parents can. Around the age of 16, the plan is also to be able to seek that consent again from the young person. On data storage, it is stored securely in a research library run by Genomics England. Access is tightly controlled, overseen by an independent committee and permitted only within a secure environment. If the noble Lord would like more details, I would be very happy to provide them.
When will the House have the opportunity to debate this policy for whole-genome sequencing with all its details, given that it has such weighty and far-reaching implications for healthcare, prevention and a number of ethical issues, as we have already heard?