Oreana: Neonatal Screening

Oreana Neonatal Screening may be appropriate for:

• Families seeking genomic screening beyond standard biochemical newborn screening
• Infants with a relevant family history of inherited disease
• Asymptomatic newborns and infants for early detection of genetic conditions
• Infants and young children with symptoms suggestive of metabolic, endocrine, or immune disorders

Testing can be performed after birth and may also be used in symptomatic infants or children for the identification of disease-causing variants.

National newborn screening programmes differ between countries in the number of conditions tested. Early genomic screening may support earlier identification of conditions with available treatment or management strategies.

With Oreana neonatal screening, genetic conditions that are treatable or manageable can be detected before the appearance of clinical signs in asymptomatic newborns. With early interventions, irreversible damages to the infant can be limited or prevented, benefiting their quality of life. Additionally, accurate identification of disease-causing variants in symptomatic newborns can signify the start of beneficial, therapeutic treatment.

Genetic findings may support clinical monitoring, specialist referral and disease management.

Clinically significant variant detected

A pathogenic or likely pathogenic variant has been identified in a gene tested.

No clinically significant variant detected

No disease-causing genetic variant has been identified in the genes tested.

Variants of Unknown Significant (VUS) are not reported.

If a reportable finding is identified:

• Clinical evaluation should be performed by the treating clinician
• Diagnostic testing may be recommended to confirm the result
• Referral to relevant paediatric specialists may be required
• Early treatment or monitoring may be initiated where appropriate
• Genetic counselling may be offered to the family

Clinical decisions should be based on clinical assessment and diagnostic confirmation.

Genetic counselling is a specialised, patient-centered, impartial, and non-directive communication process that supports patients and their families both before and after genetic testing.

Prior to genetic testing, genetic counsellors obtain a detailed medical and family history and provide education on genetic concepts, the testing process, and available options, along with the potential risks, benefits, limitations, and possible outcomes.

Upon receiving genetic test results, genetic counsellors assist in interpreting the findings and guide individuals through the implications for their own personal health and that of their family members. During post-test counselling, genetic counsellors also provide evidence-based recommendations on next steps, including strategies for prevention, surveillance, and management.

The goal of genetic counselling is to empower patients through knowledge and tailored support, enabling them to make informed and voluntary decisions.

Oreana uses target-capture enrichment technology combined with next-generation sequencing. Testing workflow includes:

• DNA extraction from buccal swab sample
• Targeted sequencing of coding regions of 142 genes
• Detection of single nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variants (CNVs)
• Bioinformatics analysis using validated pipelines
• Variant classification following ACMG/AMP guidelines