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myNewborn - Intelligenetic

myNewborn

The Science of Genetics for Your Child’s Health

myNewborn offers you a unique opportunity to proactively safeguard your child's long-term health, starting from the earliest stages of life. This comprehensive genetic screening, designed for newborns, infants, and young children, provides parents with valuable and action-inspiring information that can bring peace of mind, preparedness, and a sense of control over their child’s health.

myNewborn does not simply complement, but significantly extends the information provided by the traditional heel-prick test. While the heel-prick screening is an important basic examination, myNewborn enables a deeper, more comprehensive genetic insight, uncovering the risks of PREVENTABLE diseases that begin in early childhood—risks not covered by standard screening. This additional knowledge can be crucial for taking early, targeted preventive steps, creating personalized dietary or other treatment plans in a timely manner, and ultimately maximizing your child’s chances of living a healthy and fulfilling life.

Therefore, myNewborn represents a new, more comprehensive layer of screening—an essential modern tool for proactive health care in the hands of responsible parents.

Intelligenetic
Intelligenetic

Who is myNewborn for?

For healthy children aged 0-6 years, to maintain their health

Health Preservation

WHEN THERE ARE NO SIGNS

For healthy babies. The myNewborn screening test is specifically recommended for healthy children between the ages of 0-6, who currently show no signs of any genetic diseases.

Key to Personalized Health Care from Day One

The test is recommended for newborns and young children in their first years who do not exhibit symptoms of genetic disorders. The goal is to proactively preserve health and detect potential future risks early, even before symptoms arise. It is important to emphasize that myNewborn is a screening test and is not intended to diagnose existing symptoms in children. In such cases, targeted diagnostic tests are needed.

myNewborn

The Science of Genetics for Your Child’s Health

myNewborn offers you a unique opportunity to proactively safeguard your child's long-term health, starting from the earliest stages of life. This comprehensive genetic screening, designed for newborns, infants, and young children, provides parents with valuable and action-inspiring information that can bring peace of mind, preparedness, and a sense of control over their child’s health.

myNewborn does not simply complement, but significantly extends the information provided by the traditional heel-prick test. While the heel-prick screening is an important basic examination, myNewborn enables a deeper, more comprehensive genetic insight, uncovering the risks of PREVENTABLE diseases that begin in early childhood—risks not covered by standard screening. This additional knowledge can be crucial for taking early, targeted preventive steps, creating personalized dietary or other treatment plans in a timely manner, and ultimately maximizing your child’s chances of living a healthy and fulfilling life.

Therefore, myNewborn represents a new, more comprehensive layer of screening—an essential modern tool for proactive health care in the hands of responsible parents.

Intelligenetic
Intelligenetic

Who is myNewborn for?

For healthy children aged 0-6 years, to maintain their health

Health Preservation

WHEN THERE ARE NO SIGNS

For healthy babies. The myNewborn screening test is specifically recommended for healthy children between the ages of 0-6, who currently show no signs of any genetic diseases.

Key to Personalized Health Care from Day One

The test is recommended for newborns and young children in their first years who do not exhibit symptoms of genetic disorders. The goal is to proactively preserve health and detect potential future risks early, even before symptoms arise. It is important to emphasize that myNewborn is a screening test and is not intended to diagnose existing symptoms in children. In such cases, targeted diagnostic tests are needed.

Why is whole exome sequencing important?

The myNewborn test performs whole exome sequencing, analyzing your child’s entire genetic makeup. This is not just a snapshot, but the creation of a lifelong genetic "library," which only needs to be built once during the test.

What does this mean for you and your child in practice?

Immediate, comprehensive insight

Today, you can gain access to the relevant genetic information that could be crucial in preserving your child’s health and facilitating proactive prevention.

A long-term investment in health

As medical and genetic knowledge continue to evolve, the "genetic library" created by myNewborn allows for reanalysis of your child’s genetic data in light of the latest scientific findings, without the need for new samples. As new connections between diseases and genes emerge, you will have access to updated information, providing an invaluable resource you can return to again and again.

Increasing value over time

The possibility for future extensions adds immense value. myNewborn is not a one-time, outdated test, but a dynamic, long-term investment in your child’s health, growing more valuable with time. This knowledge provides peace of mind and preparedness, enabling informed decisions about your child’s health based on the latest scientific findings.

Thus, myNewborn not only offers the most advanced genetic screening available today, but also provides a lifelong resource that adapts to advancements in medicine, continuously creating value for your family.

Scientific Background: The BabySeq Project – Evidence-Based Reliability

The scientific foundation and reliability of the myNewborn test are supported by pioneering, internationally recognized research programs such as the BabySeq project.

BabySeq was one of the world’s first clinical randomized trials to assess the sequencing of newborn genomes. Funded by the U.S. government, this project involved prestigious institutions like Mass General Brigham and Boston Children's Hospital. Its goal was to integrate genomic information into newborn clinical care, both for healthy and ill infants.

Key findings from the BabySeq project that support the significance of myNewborn:

Significant Risk Identification: Studies showed that around 10% of screened newborns had previously unidentified, single-gene disorders (uMDR), which increased the likelihood of developing childhood diseases later on.

Medically Manageable Conditions: Importantly, every identified genetic risk was medically treatable or manageable, meaning the children could benefit from early treatment or targeted monitoring.

Discovery of Hidden, Existing Conditions: Whole-genome sequencing not only revealed potential future disease risks, but also uncovered hidden, pre-existing health conditions previously undetected. For example, a healthy-looking newborn was found to have a genetic mutation leading to potential heart issues, which was later confirmed through follow-up tests, allowing for timely intervention.

The results of the BabySeq project clearly demonstrate that comprehensive genetic screening in newborns, such as myNewborn, can provide valuable and actionable information. This external, well-documented, and government-backed research lends significant credibility to the myNewborn test, confirming its reliability as a science-based examination that can contribute to the long-term preservation of your child’s health.

What diseases does myNewborn screen for, and why is early detection important?

myNewborn provides an exceptionally comprehensive view of your child’s genetic background. The test analyzes over 400 genes associated with more than 390 metabolic and genetic diseases, typically starting in early childhood (before the age of 10). This extensive analysis allows for the detection of conditions that can be positively influenced with early detection and proper intervention, enabling your child to develop as healthily as possible.

The test performs whole exome sequencing and then analyzes more than 400 genes, related to over 390 early childhood metabolic and genetic diseases.

The diseases are categorized based on the following criteria:

Highly influencable, onset in Infancy.
Included in the biochemical newborn screening test.
Adult-onset, but where intervention is possible in childhood.
Diseases with a carrier frequency of 1/100 or higher, which are worth knowing about even if untreated, to make informed decisions regarding future pregnancies.
Betegségek gyűjteménye

The diseases are grouped into categories, including:

Metabolic
Syndromic
Respiratory
Musculoskeletal
Hematological
Endocrine
Neurological
Cardiovascular
Hearing Loss
Immunological
Cancer
Urogenital

We understand that the large number of conditions may initially seem overwhelming. However, our goal is not to burden you but to provide reassuring knowledge and actionable options. The diseases screened by myNewborn are "INFLUENCABLE" meaning that with early detection, specific steps can be taken:

Preventive treatments can be implemented.
Early, targeted therapies can be initiated.
Personalized dietary changes can be made.
Other interventions tailored to the condition can take place.

The main categories of screened diseases cover areas where early diagnosis and timely care can significantly improve a child’s quality of life and long-term health prospects.

Important information for family planning: The issue of carrier status

myNewborn not only provides crucial insights into your child’s current health but also offers valuable guidance for future family planning. The test can identify genetic variations that make you or your partner carriers of certain diseases. Carrier status means that while you may be healthy, you could pass on a potentially faulty gene to your offspring.

The test examines carrier status for diseases that are relatively common (e.g., with a carrier frequency of 1/100 or higher). This knowledge can be invaluable if you are planning to have more children, helping you make informed decisions and, if needed, seek genetic counseling about potential risks and options. This insight extends the value of myNewborn to the entire family, beyond just the tested child.

Clinical Examples – How does myNewborn help in practice?

The following examples illustrate how valuable the information provided by myNewborn can be:

PathologySymptomsPatient ManagementOutcome
Pathology:

G6PD Deficiency
Glucose-6-phosphate dehydrogenase deficiency

Symptoms:

Hemolytic anemia triggered by consumption of fava beans, sulfites, certain medications, or food dyes.

Patient Management:

Dietary modification to avoid certain foods and medications.

Outcome:

Symptom-free child.

Pathology:

Familial Hypercholesterolemia (LDLR)

Symptoms:

Individuals with mutations in this gene may show early-onset cardiovascular disease from infancy.

Patient Management:

Dietary modification and medical treatment.

Outcome:

Prevention of cardiovascular disease.

Pathology:

Supravalvular Aortic Stenosis (ELN gene)

Symptoms:

Aortic narrowing, which may lead to fainting episodes.

Patient Management:

Patient monitoring and, if necessary, surgical intervention to widen the aortic lumen.

Outcome:

Prevention of fainting episodes.

Pathology:

Alport Syndrome (COL4A5, COL4A3, COL4A4 genes)

Symptoms:

Increased risk of kidney failure due to collagen alterations.

Patient Management:

Monitoring and medical treatment in case of reduced kidney function.

Outcome:

Preservation of kidney function.

The Benefits of myNewborn – More than a test, a lifetime of care for your child’s health

By choosing myNewborn, you are not simply opting for a genetic test – you are investing in a comprehensive service that can bring genuine value and peace of mind to your family:

Egyszerű

Peace of mind and preparedness for you, proactive protection for your child

Armed with the comprehensive genetic information provided by myNewborn, you can look toward your child’s future with greater confidence and calm. The test enables proactive healthcare, allowing you to take steps to preserve your child’s long-term health before symptoms appear.

Precíz

Personalized care tailored to your child’s unique needs

Based on the myNewborn results, you and your doctor can develop a truly personalized prevention and care plan, taking into account your child’s unique genetic background and supporting their healthiest possible development.

Megelőző

Confidence in results through cutting-edge technology

Advanced sequencing technology precisely analyzes your child’s DNA, providing reliable and accurate results. This reduces uncertainty and gives you greater assurance when making decisions about your child’s health.

Megbízható

Simple and gentle sample collection

The test requires only a simple oral swab (saliva sample) or a small blood sample taken during a routine blood draw, causing minimal discomfort to your child.

Investing in your child’s long-term health – myNewborn test fee

By choosing myNewborn, you gain a comprehensive, lifelong insight into your child’s genetic background. The results empower you to take action to best support your child’s healthy development and well-being. This knowledge offers peace of mind and preparedness today, and serves as a valuable resource for the future.

What does the myNewborn fee include?

The myNewborn service is designed to provide you with all the necessary information and support throughout the process:

Whole Exome Sequencing (WES) – Mapping your child’s entire protein-coding genetic makeup, creating a lifelong “genetic library.”
Comprehensive screening – Assessing the risk of more than 390 early-onset, actionable childhood genetic and metabolic disorders.
Expert genetic counselling – Personal consultation with a genetic specialist before the test, and a detailed, accessible discussion of results afterward.
Detailed results report – A clear, written summary of the findings.
Future re-analysis option – Once stored, genetic data can be re-evaluated in the future as science advances, without the need for another sample, providing additional relevant insights.

The myNewborn test represents a comprehensive, long-term health investment for your child.

Fee: 499,000 HUF

Tip: Check with your health insurance provider regarding possible reimbursement of the test cost to take advantage of any available benefits.

How does the myNewborn test work? – Simple steps for your child’s health

The myNewborn process is designed to be as simple and comfortable as possible for you and your child, while ensuring full professional support throughout.

Medical consultation and ordering

Every myNewborn test must be ordered by a physician. This ensures the test is appropriate and justified for your child. The first step is therefore a medical consultation, where the test is explained in detail. Ordering is done through your physician. This step also includes pre-test genetic counselling, where a genetic specialist can answer any questions you may have.

Simple and gentle sample collection

The myNewborn test does not require complex or painful procedures. The sample can be collected via a simple oral swab (saliva) or a small blood sample taken during a routine blood draw. The process is quick and gentle, minimizing discomfort for your child.

Laboratory analysis (Whole Exome Sequencing – WES)

The collected sample is sent to a specialized laboratory where your child’s entire exome is sequenced using state-of-the-art technology. This process maps all the protein-coding genes, enabling detailed analysis of over 400 genes associated with more than 390 early-onset, actionable childhood diseases.

Results and genetic counselling

Results are typically available within 8–10 weeks from when the lab receives the DNA sample. Timelines may vary, as each individual’s genetic information is unique and requires varying levels of analysis. Once results are ready, post-test genetic counselling is provided. A genetic specialist explains the findings clearly, discusses potential implications, and answers further questions. A written report is also provided, which should always be interpreted by a qualified professional.

Frequently Asked Questions about myNewborn

We have collected the most frequently asked questions and answers to help you understand all the details about the myNewborn test.

How does the myNewborn test work?

myNewborn is a genetic sequencing test performed from a simple saliva or blood sample. The entire exome (the complete set of protein-coding genes) is sequenced (Whole Exome Sequencing – WES), and a results report is issued. Its implications must be assessed and discussed with you by a professional. All tests must be ordered by a physician and include both pre- and post-test genetic counselling.

Is myNewborn suitable for all ages?

myNewborn is designed for asymptomatic children from birth to age 6 to identify the risk of early-onset, actionable genetic conditions. The earlier the test is performed, the sooner the child can benefit from preventive measures or early care.

Why must a physician order the myNewborn test?

All myNewborn tests must be ordered by a doctor. There are several important reasons for this:

Appropriateness – The physician determines whether the test is suitable, considering your child’s health and family history.

Expert interpretation – Genetic results can be complex. A doctor and genetic specialist can interpret them correctly and explain their significance.

Integration into healthcare – Based on results, the physician can coordinate any further steps (e.g., additional tests, specialist consultations) and integrate the findings into your child’s healthcare.

How long until I receive the results?

Results will typically be available between 8 and 10 weeks from the time the laboratory receives the DNA sample. It is important to note that estimated delivery times may vary as each person's genetic information is unique and may require different levels of analysis.

What happens if the test identifies a risk or abnormality?

Genetic counselling – In all cases, the results will be presented to you by a genetic specialist during a detailed post-test genetic counseling session. The significance of the finding will be explained in a clear manner.

Medical guidance – The doctor who ordered the test will also be informed and will help determine further action.

Referral if necessary – If the results indicate that further examination or special care is needed, they will make recommendations and help you get to the appropriate specialist or special treatment center. Semmelweis University is our cooperating partner. Our goal is to provide you with all the necessary support.

How are my child’s sensitive genetic data handled and protected?

Genetic data is extremely sensitive personal information, so we pay special attention to its security and confidentiality. All our data processing processes strictly comply with applicable data protection regulations, including the European Union's General Data Protection Regulation (GDPR). Your child's data is stored in secure systems and only authorized professionals have access to it in order to carry out the test and communicate the results. You can find our detailed data processing information on our website.

What is DNA?

DNA (deoxyribonucleic acid) is like an extremely long instruction manual in every cell in our body. It carries the hereditary information that determines, for example, our hair color and eye color, but can also influence how our body functions and what diseases we are more susceptible to.

What is Whole Exome Sequencing (WES)?

Think of DNA as a huge library. The exome is the books (genes) of this library that contain the recipes for making proteins – the building blocks and engines of our bodies. Most known genetic diseases can be traced back to errors in these “recipes”. myNewborn scans the entire exome to look for these potential errors. There is also whole genome sequencing (WGS), which reads the entire “library”, but myNewborn specifically focuses on the exome because this is where most of the information related to diseases is found.

What does it mean if my child has a “genetic variant”?

We all have small differences in our DNA, called genetic variants. They make us unique. Most variants are harmless. However, some can increase the risk of certain diseases or affect how we respond to certain medications. Genetic counseling can help you understand whether a particular variant has health implications.

Is it bad if my child is a “carrier” of a genetic disease?

Not necessarily. Many genetic diseases are inherited in a so-called recessive manner. This means that the disease only appears if someone inherits two faulty copies of the gene (one from the mother, one from the father). If your child is a "carrier" of such a disease, it means that he has one faulty copy of the gene, but also one that works, so he is unlikely to get the condition himself. However, this information can be important for future family planning, both for you and for your child later on.

Can genetic defects that cause disease be fixed?

According to current scientific knowledge, only a few genetic diseases have effective, direct gene therapy options available. In most cases, we cannot modify the genetic abnormality itself, but we have many ways to treat the disease. Thanks to early diagnosis, symptoms can often be prevented or greatly reduced through special diets, medications, developmental interventions, or other treatments, leading to a better quality of life for the child.

How can we prevent genetic defects from developing?

It is important to understand that most genetic diseases are caused by internal biological processes, so in this case, you have not done anything "wrong." Human genetic material is constantly changing, but these changes (variants) are usually harmless. However, in rare cases, a variant may occur in a position that affects the function of a specific gene.

Is there a risk to siblings, ourselves, or other family members?

Since genetic diseases can be inherited in different ways, the risk to family members also varies. That is why genetic counseling after a positive test result is essential. Based on the specific variant found in the child, the specialist will discuss in detail the likelihood of recurrence in future siblings and which family members need to be screened. It might also be necessary to test the parents to accurately determine the risk.

If you have any further questions, please contact us or consult your doctor.