Edition of 28 February 2023

The European Burden of Disease Network (burden-eu) is an Action of European Cooperation in Science and Technology (COST), undertaken in cooperation with the WHO Regional Office for Europe and funded by the European Union. Its aim is to address disparities in research capacity and improve translation of findings related to the burden of diseases by providing a technical platform for capacity-building and knowledge sharing both within Europe and internationally.

While burden-eu has a broad overall mandate meant to capture global disease burden, they also have a specific task force dedicated to assessing the burden of rare diseases at a population level. The Rare Diseases Task Force works within the framework of burden-eu to define the existing unmet need related to the burden of rare diseases and its impact on population health, as measured by disability-adjusted life years (DALYs); with the ultimate goal of making rare diseases more visible for policy makers, researchers, and the general public.

The Task Force recently published an update on their work in Nature Medicine. In it, they reiterate the utility of DALYs for defining the social and economic burden of disease. The authors also discuss the barriers and gaps that exist in applying DALYs to rare diseases. DALY estimates have not been calculated for the vast majority of rare diseases, which makes it particularly difficult to quantify their actual impact on population health. The work of the Task Force is meant to help address this and other gaps, enabling future prioritisation of rare disease research and policy.

A recent article published in Maternal Health, Neonatology, and Perinatology describes various ethical issues associated with prenatal diagnosis, along with important considerations for its adoption.

Prenatal diagnosis is an umbrella term encompassing a range of genetic tests which are conducted prior to birth. These procedures vary in risk level and invasiveness, but all aim to detect any genetic disorders present in the foetus. They can be divided into two categories: preimplantation genetic testing, and prenatal diagnostic procedures during pregnancy.

Preimplantation genetic testing (PGT) refers to procedures performed on oocytes or embryos before the beginning of pregnancy, in cases of in vitro fertilization. PGT is typically used to screen for chromosomal abnormalities such as Down Syndrome, or monogenic defects like cystic fibrosis.

Prenatal diagnostic procedures during pregnancy are conducted during the first and second trimester to detect a wide range of chromosomal and developmental disorders. Examples of these procedures include ultrasound imaging, amniocentesis, and maternal blood tests.

These procedures generate a large amount of data which may not be well-communicated to couples. PGT findings in particular can be difficult for prospective parents to interpret, as access to information about PGT is often limited. Decisions may therefore be made on the basis of misconceptions about the likelihood or potential severity of a condition. Even when they are fully understood PGT data are uncertain at best, and are influenced by a number of factors which further complicate decision-making.

Many of the applications of prenatal diagnosis are themselves ethically controversial, and are the subject of significant debate. Overall, there is a need for clear guidelines on the use of prenatal testing. These guidelines should be developed by multidisciplinary care providers, taking into consideration patient needs, values, and the level of uncertainty created by such procedures.