Whole genome sequencing of newborns
Published November 2016
Advances in genome sequencing technologies have made it increasingly quick and cheap to generate data on the entire sequence of the human genome. This has led to the prediction that sequencing will become available as a ‘once-only’ test at the start of life and will largely replace¹ existing newborn screening programmes.
Are there recent scientific, legal or social developments?
The existing UK newborn blood spot screening programme helps identify several rare but serious diseases including cystic fibrosis and sickle cell disease with a heelprick test. In January 2015 a new set of rare inherited metabolic diseases was included in the blood spot programme. The US-based BabySeq project began in 2015 and is the first randomised, controlled trial to measure the harms and benefits of newborn genomic sequencing. The US National Institutes of Health in the US committed $25 million to projects investigating the use of newborn genomic sequencing; evidence perhaps of very real hopes to introduce this technology in the near future.
Are there complex ethical issues?
As it stands newborn screening is conducted without explicit written consent and is seen to be part of routine care of newborns in the UK. The NHS chooses to test for conditions which meet the Wilson and Junger criteria for screening, in that, among other things, we understand the natural history of the conditions and we have interventions available. The introduction of whole genome sequencing could alter the fundamental aim of newborn screening and it remains to be evaluated whether whole genome sequencing would be in the best interest of the newborn. It offers the potential to identify a much broader range of conditions, not all of which will be necessarily predictable or treatable. Informed consent for such testing would hence be important and counselling parents with the results of the tests may pose particular ethical dilemmas, in particular because we are asking parents to consent on behalf of their children. This raises questions as to whether it is beneficial for the child or the family to have this information and when and how the data should be released to the parents or the individual. Following Feinberg‘s principle of a child’s right to an open future, there is an argument that genetic testing should be delayed until a person is old enough to make an informed choice.
Sequencing would not only identify children affected with certain conditions but also the carriers of a combination of genetic variants which may never cause a significant disease or for which we are currently unable to establish the relationship between genotype and phenotype. This risks children being labelled as ‘affected’ with a condition with potential consequences of parental anxiety, overtreatment, stigma and health insurance hurdles. The issue begs the larger societal question as to whether we ought to obey the ‘technological imperative’ to employ the most sophisticated form of technology that is available to us.
Is there a potential policy impact?
In the first instance these services are likely to become available in the private sector and will require appropriate regulation. Ultimately the NHS is likely to be faced with the decision of whether to introduce whole genome sequencing as a form of newborn screening; whether this is likely to be cost-effective or appropriate remains to be answered. Policy makers will also need to consider the role of the information generated from newborn screening in acting as a biometric that can be used to identify and track individuals and their relatives.
Is it a subject of public concern?
There has been considerable public scrutiny about the use of residual blood spots for biomedical research. A recent study looking at parental attitudes to using whole-genome sequencing found concerns that genetic risk information could be inaccurate or cause worry, concerns about privacy and storage of results, and a call for parents to have a meaningful role in the newborn screening process, including being consulted about screening.
Is the consideration timely?
Predictions have been made that the implementation of sequencing technologies in newborns will become routine within a decade.
Can the Council offer a distinctive contribution?
The current Council project on Non-invasive prenatal testing (NIPT) is already seeking to address whether providers of NIPT should be subject to any limits when developing antenatal genetic tests or whole genome sequencing. It would be informative to look at the ethical differences between providing this information antenatally as opposed to in the newborn period. A new project might explore the value of an open future as weighed against knowing about one’s own, or one’s child’s, future health. It would be helpful to provide recommendations as to whether sequencing should be used to look at a limited list of conditions or whether whole genome sequencing is appropriate. The Council could be in a unique position to gauge public opinion on the issue and to ensure these voices are heard in any future changes to the newborn screening programme.
¹Some conditions within the newborn screening programme such as congenital hypothyroidism are not usually genetic conditions and the present screening methods can therefore not be wholly replaced by sequencing techniques.
Possible future work topics
This is one of the topics that have been suggested as possible project areas for further investigation by the Council. These topic summaries do not aim for comprehensiveness; rather, they are intended to sign-post some of the key considerations and to provide a starting point for discussion. Each summary includes links to relevant publications on the topic.
Possible future work topics are selected and/or revised regularly, following discussions among members of the Future Work Sub-Group and the Council. This set of topic summaries was published in November 2016.