New test for pregnant women will fundamentally change prenatal diagnosis

A new Danish research project will develop a test that, early in pregnancy, will detect serious genetic conditions in the fetus and ensure more targeted medical treatment. Innovation Fund Denmark is investing 24 million kroner in the project, which has the potential to pave the way for new international standards.

In the future, pregnant women will be able to be offered an accurate and non-invasive genetic test of their fetus as early as week nine of pregnancy. This is the goal of the new Danish research project, GENIUS, which has received DKK 24 million from Innovation Fund Denmark to develop a new generation of fetal diagnostics.

The project has the potential to change both pregnancy care, diagnostics and treatment by replacing the probability-based risk assessments of the fetus's condition offered today with real knowledge of the fetus's genetics.

"GENIUS marks a crucial shift from statistical risk models to direct genetic knowledge about the fetus – early in pregnancy and without risk to the child. It provides a completely new basis for clinical decisions and for the pregnant woman's options," says Ida Vogel, professor of clinical genetics and fetal diagnostics and project manager for GENIUS.

Early overall risk assessment rather than individual tests

Today, pregnant women are offered prenatal diagnosis that only identifies a limited number of serious genetic conditions in the fetus, and the diagnosis often occurs late in pregnancy.

GENIUS aims to offer a comprehensive genetic risk assessment early in pregnancy, which includes known serious genetic syndromes (e.g. Down syndrome and 22q11 deletion syndrome) and screening for additional serious genetic conditions (e.g. cystic fibrosis) with implications for the child's health.

At the same time, the project will investigate the pregnant woman's reaction to taking medication, which affects both the effect and metabolism of drugs in pregnant women and fetuses, and thereby how much medication the fetus is exposed to.

- Over half of pregnant women use medication, but genetic differences, which can have a major impact on both treatment effect and safety for the fetus, are rarely included in treatment choices. GENIUS makes it possible to integrate personalized medicine into pregnancy on a solid scientific basis, says Lars Henning Pedersen, professor at Aarhus University Hospital and project manager for the subproject on personalized medicine.

The project thus addresses both diagnostics and treatment in one comprehensive research design, where genetic knowledge is used in a targeted and clinically relevant manner.

Research with responsibility and a patient perspective

A central part of the project examines how pregnant women and healthcare professionals understand, use and act on information received about the genetic condition of the fetus, and how this knowledge best supports the decisions that need to be made about the further course of action.

The project therefore includes an independent research track on ethics, decision-making processes and user experiences, where women's perspectives, autonomy and experience of security are in focus.

- GENIUS is not only about what we can technically do, but about how genetic knowledge is used responsibly and meaningfully for the benefit of women, children and the healthcare system, says Ida Vogel.

In this track, patient organizations are actively involved in the development of communication and advice.

A Danish position of strength with an international perspective

GENIUS is based on more than ten years of Danish research and a long-standing public-private collaboration between Aarhus University, Aarhus University Hospital and the Danish biotech company Arcedi.

GENIUS brings together clinical research, health science and biotechnology in a Danish model that is already attracting international interest. The project is expected to create new knowledge with significance far beyond Denmark's borders and may eventually form the basis for new international standards for early, non-invasive prenatal diagnosis and personalized medicine in pregnancy.

- Denmark has a unique position of strength within public-private healthcare innovation. GENIUS shows how many years of collaboration can be translated into solutions that are both scientifically groundbreaking and socially responsible, says Lotte Hatt, CSO and project manager at Arcedi.

Facts

• Innovation Fund's investment: DKK 24 million.
• Total budget: DKK 32 million.
• Duration: 4 years
• Official title: GENIUS – Genotype First for Better Prenatal Care