FirstSteps is a preventive genomic screening program currently undergoing Phase II clinical evaluation in collaboration with selected hospital centers. The program aims to assess the clinical utility of early genomic information in supporting preventive pediatric care, early risk stratification, and informed clinical follow-up.
Join the program
Healthcare professionals may participate in the FirstSteps program through collaboration with participating hospital sites.
Clinical involvement may include:
- Informing families about the program and its scope
- Supporting informed consent procedures
- Participating in sample collection and clinical documentation
- Reviewing genomic findings in conjunction with the child's clinical context
Scientific Documentation & Methodology
FirstSteps is based on whole genome sequencing (WGS), allowing comprehensive analysis of genetic variation across the entire genome.
Genomic data is analyzed using validated bioinformatics pipelines, with a focus on variants associated with inherited conditions and early-onset or childhood-relevant disorders. Variant interpretation follows established scientific and clinical guidelines, prioritizing clinical relevance and responsible reporting.
The methodology is designed to balance depth of analysis with clarity of clinical interpretation.
What is Whole Genome Sequencing?
DNA is the genetic material that makes up our genome.
We have over 20,000 genes in every cell in our body.
Our genes are inherited by our parents.
Whole Genome Sequencing is the process of recording the entire DNA sequence.
WGS analysis aims to identify DNA variants that affect the normal function of genes.
WGS testing provides an efficient way to collect a large amount of genetic information.
Role of the Health Professional
Healthcare professionals are central to the responsible use of genomic information generated by FirstSteps. The program does not provide diagnoses or treatment recommendations. Instead, genomic findings are intended to:
Support early risk assessment
Inform clinical monitoring strategies
Facilitate timely referral to specialists when appropriate
Complement clinical judgment and standard care
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