World Children’s Day and the importance of their health

World Children's Day is a special occasion to celebrate our youngest citizens and reflect on how we can improve their health. More specifically, newborns and sick babies face unique health challenges that require a precise and timely diagnosis. 

Conventional methods of diagnosis can be time-consuming, inaccurate, and ineffective in providing a complete understanding of the baby's health. But what if there was a solution that could change all of that? Enter Whole Genome Sequencing (WGS). This state-of-the-art technology provides an unprecedented glimpse into your baby's genetic heritage, creating a unique opportunity to safeguard their health from the very first days of life. 

Current Newborn Testing misses the mark 

In the realm of newborn screening, precision and speed are paramount. Traditional newborn screening tests 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. In the United States alone, over 7,000 rare diseases exist, but standard tests screen for only about 30 to 50 of them.

• False negatives: The current testing methods may produce false negative 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.

The Gift of Whole Genome Sequencing for Newborns

Imagine giving your newborn a gift that could positively impact his or her entire life. 

Whole Genome Sequencing (WGS) analysis is an advanced technology that decodes your baby's entire genome, revealing valuable insights into their genetics. Here's why this gift is so significant:

1. Comprehensive Analysis: We examine a vast array of genes and conditions, leaving no room for undetected disorders.
2. Faster Diagnosis: Quicker diagnosis of the baby's health conditions leading to quicker treatment and a better prognosis for newborns and sick babies.
3. Improved Accuracy: Increased accuracy of diagnosis leads to reduce misdiagnoses and incorrect treatments, resulting in better outcomes for newborns and sick babies.
4. Personalized Treatment: Tailored treatment plans based on the baby's genetic code lead to better outcomes and reduced side effects, resulting in healthier, and happier newborns and sick babies.
5. Early Intervention: Early detection of genetic conditions leads to early diagnosis and treatment, improving the long-term health and well-being of newborns and sick babies.
6. Informed Family Planning: WGS analysis doesn't just pertain to the baby but also provides valuable information about the parents' genetics. This can influence future family planning decisions.

Newborn Screening Panel

Newborn Screening Panel is a routine screening test that is performed shortly after birth to identify genetic disorders that can cause serious health problems if not detected and treated early. 

The panel tests for a wide range of genetic disorders, including metabolic disorders, endocrine disorders, and hemoglobinopathies, among others.

This panel is recommended for all newborns, as early detection and treatment can prevent or reduce the severity of many genetic disorders. Testing can provide valuable information to healthcare providers and parents, such as identifying infants who may need further testing or treatment. It can also provide reassurance for parents of unaffected infants.

This Panel is based on the cutting-edge Whole Genome Sequencing (WGS) technology. This allows us to examine every corner of your baby's DNA, providing the most comprehensive analysis of different conditions like:

• Phenylketonuria
• Congenital hypothyroidism
• Galactosemia
• Sickle cell disease
• Cystic fibrosis
• Medium-chain acyl-CoA dehydrogenase deficiency
• Maple syrup urine disease
• Homocystinuria
• Biotinidase deficiency. 

Our test 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.

Genetic diseases and the Informed Family Planning

On this World Children's Day, we want to recommend that families submit not only newborns but also the parents themselves to the WGS test. 

Knowing the genetic risk enables couples to make informed family planning decisions both for current and future children.

Pathologies with recessive transmission, in order to manifest themselves, require that both copies of the gene (one of maternal origin and one of paternal origin) are mutated. The carriers of a single mutated gene are asymptomatic subjects unaware of having it. If, however, both subjects of the couple are carriers of the same mutated gene, there is a 25% chance, with each pregnancy, that a sick child will be born. Carrier screening is therefore an important tool for knowing one's carrier status.

The Carrier Screening Panel is particularly suitable for couples who are planning a pregnancy and who want to have information on their carrier status. This awareness, in the event that both members of the couple have mutations on the same gene, facilitates the informed decision-making process, planning the best possible interventions and management strategies of a hypothetical pathological status transmitted to the offspring.

Discover the Carrier Screening Panel

Conclusion

On World Children's Day, give your baby a brighter future with Whole Genome Sequencing analysis and Newborn Screening Panel. This gift not only safeguards their health from infancy but also opens the doors to a world of genetic knowledge that could positively impact their entire life. Consider WGS testing for both newborns and parents to make informed decisions about family planning. 

Investing in genetics is investing in your baby's future. Every newborn deserves the best possible start in life.