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Anneke helps the UK NSC navigate the complexities of genetics

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The UK National Screening Committee (UK NSC) only makes a positive screening recommendation when it is convinced it will do more good than harm.

To determine if any screening proposal is viable, effective and appropriate, the Committee assesses the evidence against a range of criteria including health outcomes, clinical effectiveness, ethical aspects, feasibility and cost effectiveness.

Its membership therefore needs to cover an equally broad range of expertise in areas such as public health, general practice, social science, epidemiology, screening implementation, ethics and health economics.

Today, we launch a series of blog articles on the UK NSC’s expert members, focusing first on Professor Anneke Lucassen, the geneticist on the committee.

Medical background

Dutch-born Anneke moved to the UK as a child when her parents worked for Unilever at Port Sunlight in Cheshire.

She trained in general medicine at the University of Newcastle upon Tyne and did much of her junior doctor training in Oxford. Her interest in genetics was first kindled during a year abroad when she spent 6 months on a South Pacific island as part of a clinical research study exploring the relationship between thalassaemia, Glucose-6-phosphatase dehydrogenase deficiency and malaria. Her Wellcome-funded clinical training fellowship resulted in a DPhil exploring genetic factors in type 1 diabetes.

Anneke specialised in clinical genetics and entered the emerging speciality just as testing for Huntingdon’s disease and the breast cancer susceptibility genes BRCA1 and 2 became possible. She said:

I loved communicating science in ways that were relevant to the life circumstances of patients and their families.

Back then, I wanted to translate my DPhil findings into the clinic. I thought it would just be a matter of time before all the heritable factors in a disease were identified, but I soon realised that the ethical and legal issues that arose in particular clinical settings were the ones that interested me the most. How these issues arose in practice, and were dealt with, has been the focus of my research ever since.

A rich clinical research seam

Anneke has been a consultant in clinical genetics since 1997, firstly at Oxford, then for 21 years at Southampton. She returned to Oxford in 2021 where she is also Professor of Genomic Medicine at the university.

Her interdisciplinary research group moved with her from Southampton to Oxford where she also directs the Centre for Personalised Medicine, a research and engagement vehicle to discuss aspects of genomics – among other means of personalising medicine.

Anneke chairs the ethics advisory committee of UK Biobank and the Joint Committee on Genomics in Medicine (JCGM). She also co-leads the national Genethics Forum, where health professionals discuss practical ethical problems encountered through their clinical or laboratory NHS practice. After nearly 70 one-day meetings and discussion of well over 1,000 cases, Anneke still finds that what is ostensibly the same issue can arise in many ways, adding:

It is always interesting to think about how the complexities can and should be navigated to help individuals and their families deal with genetic information.

Committee’s challenge in managing expectations

Anneke was appointed to the UK NSC in May 2022 and is also a member of its Blood Spot Task Group, which was set up to help researchers develop evidence on screening for rare diseases.

She sees her role as helping the committee navigate the complexities around the use of genetics, particularly since media and government headlines can be dominated by enthusiastic but not always achievable messages. She said:

What I think the UK NSC does brilliantly is remain focused on its core principle that screening should do more good than harm. That’s really important in this space.

Expectations around the ability of genetics to predict ill health run high. Patients, public and professionals alike may think that a genetic test will provide a yes or no answer. This is because we used to only be able to test for conditions that were very genetic, for example Huntington’s disease. Much more subtle and uncertain risks emerge now that we can sequence a whole genetic code, so we need to think carefully about the use of genetics, especially as socio-demographic factors may predict the risk of common disease as well as a genetic test might.

Then there is the risk that genetic testing might make disparities worse, in part because our knowledge of genetic variation is so skewed in favour of white European ancestry. If we are really going to offer whole genome sequencing to newborn babies as a screening test, there is a lot still to discuss.

Anneke, who recently presented a UK NSC seminar that explored the potential benefits and limitations of using polygenic scores, added:

What I enjoy is being the person the committee can come to for clinical genetics expertise input into specific pieces of work.

The UK NSC has a lot of tricky issues to navigate. For example, it can easily be accused of being too cautious in a society that tends to err towards the view that more screening is better than less screening. However, we have to consider the drain on NHS resources if screening leads to more false positive results than is currently the case.

We urgently need to have a sensible conversation in between the poles of enthusiasts and naysayers so that the future of genetic medicine is painted in a realistic way. Screening, and the role of the UK NSC, is a really important part of that conversation.

Taking a hike outside work

When not at a desk or clinic, Anneke likes the great outdoors. She has enjoyed many a cycling holiday and is currently looking forward to a 26-mile trek in the Brecons in June to raise funds for the Alzheimer’s Society. She explained:

As a child my parents thought North Wales was the perfect antidote to flat Holland. Although I resented being forced to hike every weekend as a child, I am now never happier than with a summit to reach and the Lake District is my go-to place for walking and digital de-toxing.

Hill-walking works up an appetite, so it’s also lucky for Anneke that her husband is a competition-winning hobby chef and the elder of their 2 daughters is in the process of setting up a restaurant in Amsterdam.

Keep up to date

The UK NSC blog provides up to date news from the UK NSC. You can register to receive updates direct to your inbox, so there is no need to keep checking for new articles. If you have any questions about this blog article, or about the work of the UK NSC, please email

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