As part of our work to develop a new approach to ethics to help guide the work of the UK National Screening Committee (UK NSC), we tested the proposals by looking at family cascade screening for familial hypercholesterolemia (FH).
Read the report on Child-family screening for familial hypercholesterolemia: ethical issues.
FH is a condition where the body has a high amount of cholesterol. This causes cardiovascular problems which can lead to serious illness and death.
Childhood screening for familial hypercholesterolemia
Childhood screening for FH is a potential strategy for identifying and offering early treatment to more people with FH. To date, the UK NSC has not recommended this due to uncertainties about the optimal age for screening and the potential benefits and harms.
The last UK NSC evidence review on childhood screening for FH highlighted that there had been little consideration of the ethical issues it raises. To address this gap, the UK NSC set up an ethics task group to carry out and trial our ethical analysis process. The task group included people with expertise in paediatrics, genetics, public health, ethics and social science, and a patient representative.
The purpose of the ethics task group was to:
- inform, alongside reviews of research evidence, future UK NSC recommendations on childhood or child-family cascade screening programmes for FH
- test out the proposed UK NSC ethical framework and ethical analysis process
The findings are also intended to inform the direction of a planned NHS England & Improvement (NHSEI) service evaluation of child-family cascade screening for FH in 1 to 2 year olds, to be delivered through Academic Health Science Networks.
Ethical questions
The ethics task group identified a number of ethical questions raised by this screening strategy, many of which apply to childhood screening programmes that involve genomic testing more broadly.
These include questions about how the benefits of screening for the wider family should be taken into consideration in decisions about childhood genomic screening and whether it is acceptable to have a significant time delay between a childhood screening test and the age of eligibility for effective interventions.
To inform the group’s discussions, we reviewed international guidance on childhood genomic screening and held a series of meetings with people with a professional and personal interest in FH screening.
The findings of a public dialogue on the implications of whole genome sequencing for newborn screening were also considered by the group. The public dialogue was commissioned by the UK NSC, Genomics England and UKRI’s Sciencewise programme.
The ethics task group has published its findings in a report. The report presents a discussion of the ethical questions with reference to the UK NSC’s ethical principles for screening, and considerations to inform future UK NSC recommendations. These include:
- the primary aim of screening for FH in childhood should be to confer health benefits during childhood to children with FH
- secondary benefits of childhood screening, such as improving the health of others with FH through cascade testing within families, can strengthen the case for screening and may be relevant to determining the most appropriate age for screening
- screening ideally should take place as close as possible to the point and time at which effective interventions can be initiated in screened individuals, although there may be practical factors that could justify a delay
- it is important that appropriate resource, time and attention is paid to ensuring parents make informed, considered choices about screening for FH
The work also highlighted important gaps in the evidence, such as the benefits and harms arising from dietary interventions in 1 to 2 year olds with FH.
The ethics task group report will inform future UK NSC recommendations on childhood or child-family cascade screening for FH. The next review of this topic is due in 2023 to 2024. NHSEI is also reviewing the findings.
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