NOVA – Genetic Screening Test for Newborns and Children
We know how important early detection and accurate diagnosis is when it comes to rare diseases in children. That’s why we’re proud to offer the Nova test – a state-of-the-art genetic screening solution for children that provides comprehensive insights into your clinical picture. Using next-generation sequencing (NGS) technology, our test goes beyond the standard offerings of the Ministry of Health.
The Nova test has been carefully designed to identify a wide range of rare genetic disorders and equip individuals and families with the knowledge they need to make informed decisions for their health. This innovative approach not only improves detection capabilities, but also provides greater depth of analysis to ensure the highest quality testing.
With its commitment to excellence and appropriate patient care, the Nova test combines advanced science with compassionate support. Thanks to the Nova test, the future of personal and preventative medicine is in your hands.
Discover the benefits of the Nova Test and take proactive steps to understand your health and the health of your loved ones today!
We have collected the most frequently asked questions about the Nova test for you. Our answers will help you understand what Nova is and
why it is performed. At the same time, we present the broader context of screening tests.
List of questions:
- hat are rare diseases?
- What is a diagnostic odyssey?
- What is the Nova test?
- Why is this test important?
- Is newborn screening a new concept?
- How many diseases is my child tested for?
- What if my child seems completely healthy and children in our family have never had these problems?
- How is the test done?
- When will I get my results?
- What should I do to have my child tested with the Nova test?
- Does a repeat test mean my child may have a disease?
- What if my child has one of these conditions?
- My child is sick. Will my future children have this disease too?
- What are the contraindications to performing the test?
Answers:
A rare disease is a disease that occurs with a frequency of less than 1 in 2,000 people (5 in 10,000 people) in the European population. Due to the large number of rare diseases, up to 6-8% of the population is affected by them. About 350 million people worldwide live with a rare disease, about 30 million in the European Union and 2-3 million in Poland.
The clinical diversity of rare diseases is very wide: they can be syndromes and isolated developmental disorders, mental disabilities, neurological, cardiological, nephrological, endocrine, gastroenterological, dermatological, ophthalmological, oncological, immunological or infectious diseases. 80% of rare diseases are genetic, and over 50% (up to 70%) affect children.
The diagnosis of a rare disease is difficult. Many patients are condemned to a years-long diagnostic odyssey before a correct diagnosis is made. This is a problem for rare disease patients all over the world. Even in countries where medical care is at a very high level, before the introduction of modern genetic diagnostics, the correct diagnosis of a patient with a rare disease was (on average) only made by the eighth specialist, and by then the patient had already had 2-3 misdiagnoses.
After birth, during hospitalization, blood is taken from the newborn for screening tests offered by the Ministry of Health of the Republic of Poland as part of its pro-health policy. The newborns are tested for possible rare diseases, of which the list in the 2019-2026 program includes 30 (including 11 genes that are tested for mutations).
An extension of these screening tests is the NOVA test, which is even more comprehensive.
1) Nova is a new screening test on the Polish market, which represents an almost fourfold expansion of the screening tests offered as part of the government’s newborn screening program in Poland for 2019-2026.
2) Nova uses next-generation sequencing (NGS) to detect 254 disease entities in 112 rare disease categories by analyzing 264 genes.
3) Nova is primarily intended for children up to 5 years of age (including newborns immediately after birth, without the mother having to start breastfeeding). In justified cases, older children and even adults can also use the test.
4) Nova analyzes the DNA isolated from a dry drop of blood. For a complete analysis, 3-4 drops of blood collected on a tissue paper are sufficient after a painless puncture of the child’s heel or finger.
The aim of the test is to make a quick diagnosis and initiate appropriate prevention or treatment. The result of the NOVA test provides information on whether the child has a mutation in any of the genes tested. In the case of a mutation, it is determined whether it affects the child’s current health or whether the child is only a carrier of the mutation (the disease does not cause symptoms but can be passed on to offspring).
Many congenital diseases are very insidious. Their symptoms may not appear immediately, and they do not cause any changes in the appearance of the child. A newborn may therefore receive a score of 10 on the Apgar scale, and symptoms appear slowly over the following months or even years and may include immunological problems, diarrhea, excessive vomiting, drowsiness, skin rashes, seizures, epilepsy, delayed mental and physical development. These symptoms are so non-specific that it can take a long time for the correct diagnosis to be made, by which time it may be too late for effective treatment. This can be avoided, as many congenital diseases can be treated before dangerous symptoms appear.
Thanks to modern medicine, many children can develop normally, provided the disease is detected early. Thanks to our tests, we are able to determine whether a child has a genetic mutation that is characteristic of the disease area we are testing for and inform the doctor about the need for additional tests and special care for the child. In most cases, it is very important to start treatment before the child develops symptoms or becomes ill. Diseases detected by the test have a genetic basis and are inherited from parents who may be carriers of the disease and do not have to show symptoms of the disease due to two sets of genes.
Note: Not all diseases can be completely prevented by early treatment. However, in most cases, prompt treatment allows the affected child to develop normally. In recent decades, the life expectancy of patients with incurable diseases has increased spectacularly, and thanks to new causal therapies, the disease has a chance of turning from incurable to chronic. Therefore, early diagnosis, treatment and prevention are a chance for a long life for the patient.
No. The concept of screening dates back to the 1950s , and the first analyses that formed the basis of these studies date back to the 1930s and Dr. Asbjorn Folling laboratory, a physician and biochemist working at the Medical Academy in Oslo. He was the first to isolate phenylpyruvic acid, which occurs in elevated concentrations in patients with phenylketonuria. Dr. Folling’s discovery increased the interest of doctors in this disease. In subsequent years, Dr. George Jervis from New York discovered that patients inherit a defect in which the liver is unable to break down phenylalanine (one of the basic amino acids found in all protein-containing foods) into tyrosine and other substances needed for the proper functioning of the body. Dr. Jervis discovered that the result of this defect is the accumulation of phenylalanine in the blood and the secretion of pyruvic acid in the urine, which in turn causes a significant slowdown in the development of the sick child, leading to profound mental retardation.
These beginnings laid the foundation for current screening tests for rare diseases, the list of which continues to grow. Depending on the country and region, screening tests offered as part of local health policies of ministries of health check for from a dozen to several dozen diseases. Screening tests are performed because the detected developmental defects are practically unrecognizable during a medical examination, and left untreated lead to impaired mental and physical development. Only early treatment can save a child from severe mental retardation or numerous hospitalizations without establishing the correct diagnosis.
The NOVA test offers much more than the government’s newborn screening program in Poland for the years 2019-2026. The Nova test examines 264 genes for mutations leading to 254 disease entities, classified into 112 disease categories.
It is important to remember that detecting a mutation in a gene does not always lead to disease. If a mutation occurs, it is determined whether it affects the child’s current health or whether the child is only a carrier of the mutation (the disease does not cause any symptoms but can be passed on to offspring).
Most babies detected in newborn screening programs show no symptoms at birth and appear healthy. With the Nova test, we can expand the standard screening offer by almost four times and determine if a child may have one of these rare diseases, inform the doctor about the need for additional testing and provide special care for the child.
All of the diseases on the Nova test panel are genetic and are inherited from parents. Every child has two sets of genes – one from mom and one from dad. Sometimes the problem is with just one set of genes, but because the other is fine, the child is not sick. Such children are called carriers. Although the child does not get sick, it means that at least one parent (and sometimes both) is also a carrier. In general, newborn screening tests can identify carriers of some genetic conditions in specific cases, but the program is not designed to detect all carriers. If your child is a carrier, genetic counseling should be sought, as most parents who are carriers are unaware of this. Seeing a doctor will help you understand the information you get.
A negative screening result in one child does not guarantee that subsequent children will be negative. Children and parents can be carriers of diseases even if no one in the family has the disease. Each of these diseases is very rare and there is a good chance that the child will be healthy, but it cannot be ruled out that the disease will occur in another child.
A referral for testing is prescribed by a physician who is knowledgeable about Nova. Why is it organized this way? We want the doctor to know the possibilities and limitations of the Nova test, and to consciously conduct a conversation with the parents/guardians of the child who is to be tested. During this conversation, the doctor will first confirm whether the child can undergo the Nova test (there are several contraindications, which we write about below), inform what the test involves, present important information related to the results, fill out the test order form and familiarize with the Nova test documentation.
The child will then be referred to a healthcare facility where specialized staff will take a blood sample. Three-four drops are enough to be transferred to a special card with blood-absorbing paper. Blood will be taken from a finger or heel. The puncture is performed using a special lancet or needle that painlessly and extremely quickly cuts the skin (we have tested this many times and we know that it does not hurt). The Nova test documentation will also be completed, and one copy will be given to the parents/guardians. The sample will be sent by courier to the laboratory on the same day (in justified cases samples can be sent within a few days – don’t worry, a dry blood drop is very stable and is protected against degradation, which is why we allow samples to be sent within a few days after the sample has been taken). The shipment is marked as ‘ Medical Express ‘ and the sample is delivered to the laboratory very quickly.
After receiving the sample, the laboratory isolates DNA from a dry blood drop and performs an analysis using next-generation sequencing (NGS). 264 genes are analyzed, and a report is prepared based on the results, which is sent to the doctor who ordered the test. The doctor then discusses the results and presents solutions, if necessary.
The laboratory will prepare the report within 25 business days of receiving the sample. This time can be shortened, but you still need to be patient. The
comprehensive gene analysis, the scale of the study, and the expected high quality of the analysis mean that there is no need to rush. After the report is generated,
you should add a few more days to provide the doctor with the full data. The doctor will inform you about the results and consult them.
You should contact a doctor who works with the Nova test (e.g. by asking your pediatrician, geneticist or neonatologist). If you do not have the contact details of such a doctor, please contact us by sending information to contact@pti-ls.com that you express your willingness to perform the Nova test together including your email address and telephone number. We will call you back or write back. The administrator of your personal data will be PTI Life Sciences sp. z o. o.
The list of doctors who work with Nova is not publicly available (we are trying to change this), however, after you contact us, we are able to suggest a specialist who
will help you with the test. Please note that the Nova test is a new offer on the market, so it will not be available in every region of Poland immediately. The list of
doctors working with Nova will grow over time.
Our concern for the quality of services provided means that we provide doctors with comprehensive information about the Nova test, so that both the doctor and the
patient they consult feel comfortable with the knowledge they have acquired on this subject.
No. There may be other reasons why a repeat test is necessary. This could be due to incorrect placement of the blood on the absorption paper, damage, or poor quality of the sample. In such cases, simply take another blood sample as soon as possible.
First of all, a positive screening test result does not predetermine the disease. The child can only be a carrier, and the disease does not necessarily have to appear. However, if it turns out that the risk associated with a given mutation suggests the possibility of a disease, a genetic consultation with a specialist and additional diagnostic tests for the disease will be recommended. It is worth remembering that the results of tests conducted as part of screening tests do not constitute a diagnosis. They only require referring the patient for further, more advanced and specialized tests.
All diseases listed in the test are subject to treatment, which can alleviate their effects. If treatment is started early enough, symptoms can be completely prevented or alleviated, improving the quality of life. Early treatment cannot completely prevent the effects of all diseases, but it can allow the child to develop normally. Medical care should be coordinated by a doctor who specializes in the disease in question.
It depends on the disease and the mutated gene. All diseases in the Nova test are genetic and are inherited by children from their parents. A positive screening result does not necessarily mean that subsequent children will also have the disease, just as a negative result does not guarantee that subsequent children will be healthy.
Carriers have one gene mutation but are healthy. Children and their parents can be carriers even though no one in their family has had the disease. It is worth seeking genetic counseling to better understand how the child got the disease and to learn about the risks of the disease and being a carrier for their future children and other family members.
The Nova test should not be performed on children who have undergone an allogeneic transplant, i.e. the donor and recipient are different people (NB an autologous transplant, i.e. the donor is also the recipient, does not disqualify the test). If the person being tested has experienced any other situation that could have led to the presence of another person’s DNA in their blood, the test results may be inaccurate. In the case of a blood transfusion, the waiting period before performing the test should be at least 6 months.
It is not recommended to perform these tests on clinical patients or on infants in the neonatal intensive care unit (NICU).
This test is also not performed for the clinical confirmation of any genetic disease. It is important to remember that the screening tests offered have a defined and limited scope in terms of the diseases and genes they can detect and analyze. These are pathogenic and suspected pathogenic gene variants that have been included in the current version of the database of hereditary diseases of newborns. If the patient wants to determine the cause of a specific disease through genetic testing, it is recommended to perform chromosomal or whole exome sequencing studies that correspond to the clinically suspected disease.
Before performing the examination, the doctor will conduct an interview and assess whether there are any contraindications.