FirstSteps follows a clearly defined research protocol focused on safety, transparency, and respect for families. Participation in the study is voluntary and takes place only after informed parental consent has been obtained. Each step is explained in advance, so parents know what to expect and feel confident throughout the entire journey.
Programm's purpose
The purpose of First Steps' newborn screening is to detect treatable genetic diseases early, allowing: early detection, early intervention, better outcomes.
Since its introduction in the 1960s with phenylketonuria (PKU), newborn screening has become one of the most successful public health programs worldwide. Today, advances in genomic technology make it possible to expand screening far beyond current limits.
However, newborn genomic screening remains, at present, a research tool. FirstSteps intends to evaluate this approach rigorously before it can be considered for broader public health adoption.
How it works
Three steps on how our genetic analysis and genome screening works
- 1
Consultation & Guidance
The process begins with clear and understandable information. Families receive an explanation of what FirstSteps is, what it examines, and what kind of information it can provide. All questions are addressed before any step is taken. Participation is entirely voluntary and proceeds only after informed consent is given.
- 2
Genetic Analysis
A small blood sample is collected using the heel stick test, a method commonly used in newborn screening worldwide. The procedure involves a gentle prick on the baby's heel to collect a few drops of blood. It is quick, safe, and performed by trained professionals, following established medical and safety standards. Any brief discomfort is minimal and temporary.
- 3
Results & Next Steps
The sample is analyzed using validated genetic analysis methods. Results are carefully reviewed and prepared in a clear, structured format, focusing on meaningful information rather than complex technical details. The aim is understanding—not overwhelming families with data.
Early Genetic Information Matters
The earliest years of life are critical for physical, cognitive, and development.
Genetic information can reveal predispositions that may not be visible at birth but could influence a child's health later on. When this information is available early, families and healthcare professionals have the opportunity to:
Monitor development more closely
Act preventively rather than reactively
Make informed medical and lifestyle decisions
Reduce uncertainty and anxiety through knowledge
What happens after the results?
Once results are available, families receive guidance on how to understand them. If the findings suggest areas that may benefit from attention or monitoring, families are encouraged to discuss them with their pediatrician or relevant healthcare professionals. In many cases, the results simply provide reassurance and peace of mind. The team is available to answer questions, clarify results, and provide guidance on how the information can be used responsibly. The goal is to support families in making calm, informed decisions that align with their values and their child's needs. FirstSteps does not make medical decisions but supports informed conversations and next steps.
We are here to support you
If you have questions or would like to learn more about how FirstSteps works, our team would be happy to talk with you.
Contact us