Today is World Health Day, and the theme of Healthy beginnings, hopeful futures focuses on maternal and newborn health.
We’re shining the spotlight on the IMI projects that have mothers and newborns at their core – ConcePTION and Screen4CARE.
For many reasons, pregnant and lactating women are often not included in experimental research. This has led to an enormous gap in evidence when it comes to the effects of drugs in pregnancy and lactation. Usually, if a pregnant or breastfeeding woman is sick, decisions have to be made about treatment pathways without a robust evidence base.
However, since up to 90% of women take medication at some stage during pregnancy and breastfeeding, there is a wealth of real-world data that could be gathered and examined and robustly evaluated, to give doctors and patients a clearer picture about the effects of taking different medications while pregnant or breastfeeding. The ConcePTION project took the first steps towards doing this.
The ConcePTION project sourced this real-world data and created a data pipeline for pharmacoepidemiology studies so that medicine safety for pregnant and breastfeeding women can be more robustly evaluated. The idea is that patterns can be found in the real-world data which can help to indicate how safe or how unsafe a particular medication may be to use while pregnant or breastfeeding, and outline any side-effects. This data could help doctors to make more robust evidence-based decisions on how to treat pregnant or breastfeeding women.
ConcePTION also:
- created the first Europe-wide breast milk biobank for research purposes;
- developed tools to predict which drugs are likely to be transferred to breast milk, investigating 10 compounds ranging from medication for migraine to neuropathic pain;
- established a web-based drug information knowledge bank
- and created an app, Meds4Mums2B, for safety information exchange.
The Screen4CARE project aims to dramatically shorten the time that it takes to get a rare disease diagnosis by conducting newborn screening.
Up to 36 million people are affected by rare diseases in the EU alone, and many of those living with rare diseases are children. The average patient has to wait five years for a diagnosis, but this may be too late for many children - almost a third of rare disease patients die before the age of five. Faster diagnoses mean that the correct treatments can be administered on time, leading to:
- longer lifespans
- a halt in the progression of the disease
- improved quality of life.
As an example, a fast diagnosis can mean the difference between a child that can walk and one who must be in a wheelchair.
Since more than 70% of all rare diseases have a genetic origin, genetic newborn screening is an ideal way to diagnose them. Newborns undergo an almost painless heel prick, soon after birth, and the blood is placed on a card. The blood then goes to a specialist centre for screening. If the test comes back positive, the parents are then referred to the European Reference Networks – networks of experts in rare diseases that can help inform the parents about the next steps and treat the child.
Although the process sounds simple, there are some roadblocks. In the EU, while Italy screens for an impressive 48 diseases at birth, Romania and Cyprus only screen for two. Screen4CARE aims to deliver a sustainable strategy for genetic newborn screening using whole genome sequencing that could be rolled out in all EU countries.
The project is also exploring how digital health solutions could improve screening. Predictive algorithms could flag patients deemed to be high-risk, while a meta-symptom checker could help to highlight symptoms that may have been overlooked in older children. Screen4CARE also aims to set up a virtual clinic that could be used by patients or parents to try to self-diagnose these rare diseases before they spiral out of control.
ConcePTION and Screen4CARE are supported by the Innovative Medicines Initiative, a partnership between the European Union and the European pharmaceutical industry.