In a talk hosted by Reuben College’s Ethics & Values theme, Dr Anneke Lucassen (Professor of Genomic Medicine in the Nuffield Department of Medicine, Director at the Centre for Personalised Medicine at Oxford and NHS consultant in clinical genetics) spoke to a packed College Dining Hall on Tuesday 13 May about Genetic Testing of Babies: Is More better?
About Professor Lucassen’s journey
Anneke’s talk and research journey began on the sandy Pacific beaches of Vanuatu in the early 1990s, where she was involved in a research project exploring why and how some forms of thalassaemia protect against malaria. This inspired her decision to pursue
a DPhil back in Oxford on genetic susceptibility to Type 1 diabetes, where her studies led to the identification of several genetic variants that influence the risk of this disease.
The optimistic conclusions of her dissertation echoed the spirit of the 1990s, anticipating that ongoing advances in genetic technologies would soon overcome the challenges of identifying all the genes involved in common complex diseases—and that these
discoveries would swiftly translate into clinical applications.
However, none of these specific discoveries are today part of routine diabetes care, and the challenges of identifying, interpreting, and using genetic discoveries have arguably become more complex despite very rapid advances in genetic technology. In
turn, Anneke’s career has increasingly focused not only on the clinical but also the ethical and societal challenges and opportunities associated with genetics.
Newborn Screening
This found application in the evening’s talk on newborn screening, where the topic was discussed in the context of the Generation Study. Currently being delivered by the NHS, this major programme aims to screen 100,000 newborns for over 200 rare, but
treatable, diseases that usually appear in early childhood. This study has two goals: to check for rare diseases and to understand how genes affect a child’s health over time. Anneke noted that because both of these goals are combined, the study uses
genome sequencing for all babies. However, simpler, targeted tests may be more effective and could be used just for the disease-screening element of the programme.
It's common for people to have rare gene changes that look potentially harmful. Most healthy people have at least one such change in genes linked to serious diseases, but may never develop the associated disease. In babies, who generally haven't yet lived
long enough to show symptoms, it’s even harder to tell if such genetic change will lead to illness. This makes it difficult for clinicians and other caregivers to give clear results to parents.
Moreover, there’s little data on how often rare genetic changes cause illness in babies who don’t show any symptoms. Data for these genetic changes largely come from sick children already under clinical care, where genetic findings are considered alongside
symptoms. This makes them different from healthy newborns, for whom follow-up tests are often inconclusive without symptoms.
Some children will benefit from receiving an early diagnosis, potentially ending or avoiding a long and difficult 'diagnostic odyssey'. Yet, for many others, the result may instead be the beginning of a 'predictive odyssey': a prolonged period of uncertainty,
anxiety, and ongoing monitoring triggered by genetic findings whose significance is unclear and which may never cause disease.
Discussion
The discussion considered whether current or prospective parents would have consented to have their children included in this kind of study, were they to go through the experience of becoming parents again or for the first time in the future. Opinions
were mixed, and there was evidence that Anneke’s thought-provoking talk had changed minds amongst the once and future parents in attendance.
