Neonatal screening and beyond
Background
It has been estimated that currently some 180,000 carriers of hereditary hemoglobinopathies are living in The Netherlands. A carriertest for hemoglobinopathies as well as a diagnostic test were developed decades ago. For a long time now there has been discussion in the Netherlands whether testing for hemoglobinopathies, i.e. carriership or disease, is opportune (3), should be introduced (1) and if so, how. At present there are no formal recommendations from public health authorities for preconceptional or antenatal testing of asymptomatic persons (10), nor is there any systematic provision of information for the general public. In 2007 the newborn screening program was expanded to include a HPLC test for sickle cell disease (11). Besides identifying patients, this screening leads to unsought identification of hemoglobinopathy carriers. Although parents may opt out of receiving this information, those who do learn that their child is a carrier will have to cope with the genetic implications for themselves, the child, and other family members. It is likely that requests for ‘cascade’ carrier testing will ensue. In addition increased awareness in society at large leads to more frequent requests for (preconception) carrier testing. Primary care providers such as midwives and general practitioners, in addition to pediatric and clinical genetic specialists, will be called upon to meet these needs.
It would be of interest to learn about the decision-making process in more detail. Since genomics is developing rapidly, more (ancestry-based) tests will become available within a short time (eg hypertension and its treatment based on pharmacogenomics, diabetes), and ancestry in itself will become more and more important.
The findings will be used to formulate recommendations on how to organize formal screening for HbPs. The results of the project will have a broader applicability as genetic tests based on ethnicity will be developed more and more in the future. This project can offer valuable information on how to introduce and apply such tests in screening programs.