Call center 24/7: 2310 282835
Email: info@biogenea.gr

Biogenea Pharmaceuticals’ Newborn Screening (WGS/WES)

Biogenea Pharmaceuticals’ Newborn Screening (WGS/WES)

Choose Biogenea Pharmaceuticals’ Newborn Screening

Every newborn deserves the best possible start in life. Biogenea Pharmaceuticals’ Newborn Screening detects reliably and promptly serious metabolic, genetic and rare diseases.

Who is Biogenea Pharmaceuticals’ Newborn Screening for?

Newborns

Every newborn deserves the best possible start in life. Biogenea Pharmaceuticals’ Newborn Screening detects reliably and promptly serious metabolic, genetic and rare diseases.

Parents and Caregivers

We understand the concerns and responsibilities that come with parenthood. Biogenea Pharmaceuticals offers you the genetic information that is needed for you to take evidence-based decisions regarding your child’s future.

BIOGENEA-FLYER3-1-1

How does sample collection work?

  • Sample collection: The procedure is painless and non-invasive collecting a few blood spots.

  • Shipment to lab: Your sample is safely transported to our laboratory, where cutting-edge analysis is applied.

  • Sequencing: We analyze the genetic profile of your newborn with precision and high sensitivity.

  • Report/Results delivery: You receive a comprehensive analysis of the results, not just data. Moreover, there is genetic counseling available, ready to provide guidance whenever needed, with the guarantee that you will have every bit of information for the prosperity of your newborn.

Why should you choose Biogenea Pharmaceuticals’ Newborn Screening?

Criteria Biogenea Pharmaceuticals’
Newborn Screening 		Traditional Newborn Screening
Comprehensive analysis Examines >400 actionable disorders Very limited (typically <50 conditions)
Accuracy Highly accurate Moderate
Early intervention Immediate if needed Delayed treatment (until diagnosis is achieved)
Early detection Detects from birth Limited early detection
Diagnostic potential High Low, if results are not normal further tests are needed
Identification of rare diseases Yes Rarely and requires further diagnostic tests
Single test One-time comprehensive screening Multiple tests required

What is Newborn Screening?

Newborn Screening is a diagnostic test that involves testing the genetic material (DNA) of the newborn, in order to reliably and promptly detect serious metabolic, genetic and rare diseases. This test is performed in the first days of the newborn’s life and is necessary for the following reasons:

  • Early detection: Newborn Screening detects life-threatening conditions in the earliest days of the newborn’s life, improving chances of timely treatment and diagnosis.

  • Preventive care: By identifying genetic disorders early, physicians can take preventive measures, preventing serious symptoms and complications.

  • Security and reliability: Parents feel secure knowing that their newborn has been screened for serious metabolic, genetic and rare diseases, helping them to make informed decisions in the field of healthcare.

Limitations of the traditional Newborn Screening (LC/MS)

In the realm of newborn screening precision and speed are paramount. Traditional newborn screening tests (LC/MS) have been the gold standard for decades, but they come with their fair share of limitations:

  • Limited Scope: Conventional newborn tests typically focus on a small number of conditions, leaving many others undetected. There are more than 7000 rare diseases, but conventional newborn screening methods only detect 30-50 of them.

  • Limited disease detection: The current testing methods may produce false negatives results, delaying the diagnosis and treatment of potentially life-threatening conditions. In fact, approximately 1 in 300 babies have a condition that might be missed by standard newborn screening.

  • Long wait times: Traditional testing often requires multiple rounds of follow-up tests, causing anxiety and uncertainty for parents and caregivers. The delay in obtaining results can hinder early intervention and care.

Biogenea Pharmaceuticals’ Newborn Screening

We live in an era where knowledge of genomic information is of paramount importance. Biogenea Pharmaceuticals provides you with evidence-based options to provide your newborn with this information, reliably and promptly detecting serious diseases.

Whole Genome Sequencing (WGS) / Whole Exome Sequencing (WES)

Unlike conventional tests that look at a limited number of genes, Biogenea Pharmaceuticals’ Newborn Screening utilizes cutting-edge Whole Genome or Whole Exome Sequencing (WGS or WES). This allows us to examine every corner of your baby’s DNA, providing information and analyses for over 400 diseases, that go beyond the scope of current newborn tests. Additionally, it is also possible to analyze the newborn’s genetic sensitivity to drugs (pharmacogenomics) as well as the effect of the genome on the newborn’s nutrition (nutrigenomics).

*Conditions that have an established medical treatment available

Based on BeginNGS1 study

Newborn Screening is designed based on the groundbreaking BeginNGS study, which involved thousands of newborns and has paved the way for more comprehensive and in-depth screening. High accuracy, reliability and impartiality in Newborn Screening.

¹PMID:36218021 DOI: 10.1002/ajmg.c.32005