Why is performing a postnatal genetic screening important for babies and children?
Screening for diseases in babies is not new! Thousands of newborns have performed the famous “heel-prick test” - a biochemical test that, from a blood sample, can detect rare and severe diseases with infantile onset.
Despite all the benefits already proven, the current neonatal screening tests have some limitations, namely the reduced number of screened diseases (only 26, in Portugal); all positive cases require further confirmation by additional tests such as genetic testing; and test data is used once in a lifetime.
DNA.files BABY emerges as a complement to the heel-prick test, allowing children to benefit from a more comprehensive screening of over 300 pediatric diseases that are clinically actionable, not requiring any extra confirmation.
In addition to the extended immediate benefits, this service also has extra future benefits. Since DNA is immutable and genetic data is stored, it can be consulted multiple times over a lifetime (with the permission of the child's legal representatives) to support the clinical diagnosis of pathologies not screened by DNA.files BABY.
What are the main benefits for children, physicians and families?
DNA.files BABY was developed to improve children’s quality of life, through early detection of genetic mutations that can lead to severe illnesses. When a mutation associated with an actionable pediatric disease is early detected:
- Children can receive the most appropriate treatment or clinical follow-up, quickly and effectively, in order to prevent or mitigate the development of serious diseases.
- Physicians can better monitor their patients' health and improve clinical outcomes.
- Diagnosis time is significantly reduced, substantially decreasing the anxiety levels in families.
Is DNA.files BABY a diagnostic test?
No, DNA.files BABY is a screening analysis for genetic diseases in asymptomatic newborns and children. In other words, this service allows to detect mutations in genes that are associated with clinically actionable diseases (recommendations from international genetic entities, such as the American College of Medical Genetics and Genomics and the Association for Medical Pathology), according to their hereditary pattern. Early detection of these diseases allows children to receive the most appropriate clinical follow-up, before the first symptoms appear, to prevent or mitigate their development.
Is DNA.files BABY a substitute for the heel-prick test?
No, DNA.files BABY is positioned as a complement to the heel-prick test, with additional benefits for the baby's health care, since it analyses more than 500 genes associated with over 300 diseases. With the exception of type III tyrosinemia and methionine adenosyl transferase deficiency, the remaining 24 diseases, screened by the “heel-prick test” in Portugal, are included in the DNA.files BABY panel.
Besides, DNA becomes a life-long resource for health as genetic data is securely stored. If symptoms suggestive of genetic disease appear in the future, DNA sequence can be re-analysed multiple times throughout life, speeding up both the diagnosis time and allowing timely clinical interventions.
When can DNA.files BABY be performed?
DNA.files BABY can be performed from the baby's first day of life. Although there is no age limit, we recommend to perform it as soon as possible as the benefits are theoretically greater. The sooner the disease-causing mutations are detected, the faster the clinical interventions are initiated and the greater are the chances of preventing or mitigating diseases' development.
Clinical interventions may include adjustments in diet and lifestyle habits, administration of medicines, application of different types of therapies, or periodic clinical surveillance with possible use of complementary screening methods.
Where can I perform the DNA.files BABY genetic service?
DNA.files BABY is performed by analysing the children’s DNA, collected from a saliva sample. This procedure can be performed at the maternity ward, if you have requested the DNA.files BABY kit before the baby is born, or in the comfort of your own home. Saliva collection does not require to be carried out by a healthcare professional.
Saliva is collected with an appropriate CE-certified swab, which is a simple, painless and risk-free process for the baby.
What does the DNA.files BABY service include and how much does it cost?
1) Genetic counseling by a doctor with a specialty in Genetics.
2) Saliva collection device suitable for children, containing a certified swab appropriate for collecting the saliva sample - painless & non-invasive.
3) Reading of all 20,000 genes by Next Generation Sequencing (NGS) technology in a certified lab for DNA analysis.
4) Analysis of ~500 genes associated with ~300 actionable genetic diseases with paediatric-onset.
5) Interpretation of genetic results by our experts in Molecular and Clinical Genetics with over 20 years of experience in genetic analysis.
6) Clinical report with genetic results, which contains the identified mutations and their impact on the athlete’s health, working as a tool to support physicians’ decisions.
7) DNA sequence storage and protection by our patented technology, enabling the usage of DNA data (full sequence) in future clinical needs.
By whom was DNA.files BABY developed?
DNA.files BABY is a Clinical Genetics service for babies and children, developed by the Portuguese company CBR Genomics, whose mission is to improve people's quality of life and well-being, based on DNA information. CBR Genomics is dedicated to the development of innovative genetic services (branded DNA.files), which are simple, safe and personalised clinical tools, as indispensable as a CT scan or a radiograph are today.
All DNA.files services allow to identify genetic mutations associated with diseases that, if early detected and timely clinical actions are taken, it enable the prevention or mitigation of their development. In addition, it is also possible to reduce the time and emotional burden until reaching the diagnosis, promoting a better and longer life.
Medical appointment & prescription
Is a medical appointment required before performing DNA.files BABY?
Yes, the analysis in asymptomatic children is prescribed by the geneticist physician after the medical appointment. Genetic data contains highly sensitive and complex information, so its access, analysis and interpretation are strictly regulated.
Should DNA.files BABY be followed by genetic counselling?
Yes, DNA.files BABY is a genetic service for asymptomatic children. Therefore, it can only be performed upon request by a Geneticist doctor and following a genetic counselling appointment, as well as after the informed consent from the child’s parents/ legal representatives. These can authorise the assistant physician (family doctor, paediatrician, etc.) to be involved in this process, both before or after performing the genetic analysis.
How are the results communicated?
Genetic results, included in the clinical report, are communicated to parents/legal representatives at an appropriate medical appointment.
What information will be transmitted during the medical appointment?
The doctor will provide the child’s parents/ legal representatives with all relevant information about DNA.files BABY, including the description of the service, its benefits, risks and limitations. After clarification of all relevant clinical issues, the Informed Consent is signed by all parties and the physician prescribes the genetic service.
What is the Informed Consent?
The Informed Consent is a legal document signed by the doctor and the child’s parents/ legal representatives through which the authorisation to perform the genetic service is expressed, in an informed and explicit manner.
Why is a medical prescription required to perform DNA.files BABY?
We operate in full compliance with national legislation, so the medical prescription for the realisation of DNA.files BABY is an integral part of the process. The prescription code will be required to complete the DNA.files BABY kit order form.
How can I get the DNA.files BABY kit?
After the doctor's prescription and signature of the Informed Consent for the DNA.files BABY service, you fill out the kit order form (whose link will be sent by email). Upon receipt of payment, we’ll send the kit to the indicated delivery address.
Can I order the DNA.files BABY kit before the baby is born?
Yes, after the doctor's prescription and the Informed Consent is signed. We recommend that you order the kit at least 15 days in advance to ensure the kit is delivered before birth.
What is the saliva collection device expiration date?
CBR Genomics uses a certified (CE) saliva collection device which, as indicated by the manufacturer, has a stability of approximately 24 months. After collection, saliva will remain stable for up to 60 days. However, in order to guarantee the highest quality level of the saliva sample, we recommend you to schedule the return shipment on the day of collection.
The DNAfiles kit arrived in inappropriate conditions. What can I do?
Please contact us at firstname.lastname@example.org or by WhatsApp +351 926 462 135.
Is the procedure of saliva sample collection safe for my baby?
Yes, saliva is collected through a cheek smear. The process is simple, painless and without any risk to the baby.
Who performs the sample collection?
The sample can be collected by the child's own parents/legal representatives or by a healthcare professional. Once it is a simple process, it is not mandatory to be performed by a qualified professional.
What precautions should I take after and during saliva collection?
You should consider the instructions provided in the DNA.files BABY kit. Moreover, we suggest you to perform the saliva collection while the baby is fasting and avoid the contact of any object with the baby's mouth for at least 30 minutes before the saliva collection procedure. Food, soothers and other objects can interfere with the quality of the saliva sample.
Where should I send my baby's saliva sample?
You must send the sample to our facilities. Shipping is free and you will receive all necessary instructions in the DNA.files BABY kit.
Why perform DNA analysis from a saliva sample and not from a blood one?
DNA can be extracted from multiple biological samples, such as blood or saliva. However, the saliva collection process is simpler and painless for the child.
In which laboratory is DNA sequenced?
DNA extraction and sequencing is performed by a clinical laboratory certified for genetic analysis located in Cambridge – Novogene (UK) Company Limited.
How is DNA analysis performed?
First, DNA is sequenced (read) by using the Next Generation Sequencing (NGS) technology, an efficient method to identify genetic mutations associated with diseases. This technology allows to sequence hundreds of genes simultaneously.
The sequencing genetic data is then processed and validated by our bioinformatics team and interpreted by our geneticists (molecular and clinical) in accordance with the recommendations of the American College of Medical Genetics and Genomics - ACMGG and the Association for Medical Pathology.
How do we ensure that the DNA analysis was performed correctly?
DNA analysis encompasses different points of quality control: (1) before performing the exome sequencing, the DNA extracted from the saliva sample is analysed regarding its quantity and quality; and (2) after exome sequencing, CBR Genomics validates the quality of the sequenced genetic data, i.e., confirms if the sequencing metrics are in accordance with the protocol requirements and if the data can be interpreted by the Genetics (molecular and clinical) team.
Results & Report
What is the waiting time until get the results?
The results, compiled in the clinical report, are ready within 3-4 months after sending the saliva sample to the laboratory and validating its quality.
How can I track the service status?
You can follow the service status in your private area, at https://platform.cbrgenomics.com/login.
What does a positive result mean?
A positive result means that a pathogenic mutation has been detected, in accordance with the recommendations of the American College of Medical Genetics and Genomics - ACMGG and the Association for Medical Pathology, associated with a disease screened by DNA.files BABY. Communication of the result and the respective genetic counselling will be provided by a geneticist doctor.
What does a negative result mean?
A negative result means that no pathogenic variants were detected, according to the recommendations of the American College of Medical Genetics and Genomics - ACMGG and the Association for Medical Pathology, associated with diseases screened by DNA.files BABY.
Who generates the report?
The genetic analysis report is produced by the Genetics (molecular and clinical) team of CBR Genomics.
To whom is the report sent?
With the permission of the child's parents/ legal representatives, the report is sent to the assistant physician (family doctor, paediatrician, etc.) with the consent of the geneticist doctor.
Who has access to the clinical report?
The clinical genetic report contains highly sensitive and confidential information, which can have a negative impact on its owner if it’s misused. Therefore, its access is strictly regulated.
We have a patient-centric approach and we ensure that genetic results are properly communicated - only qualified professionals have the necessary know-how to interpret genetic findings, evaluate their impact on patients’ health, and provide the most suitable clinical intervention.
Only the data owner or the legal representative can authorise these professionals to access the clinical report. It will always be available in the patient’s personal area, enclosed in the platform developed by CBR Genomics. The report can always be shared with which and how many doctors the data owner or the legal representative choose to discuss it with.
What does the genetic report contain?
The genetic report contains:
- Patient information - personal information (such as name, birth's date and gender), as well as clinical family/ personal clinical history;
- Genetic results - the mutations detected in the genes screened by DNA.files BABY, the respective hereditary pattern and the associated disease; we only report pathogenic and probably pathogenic alterations (American College of Medical Genetics and Association for Medical Pathology recommendations) and according to the inheritance pattern of the disease;
- Interpretation of results – clinical-scientific contextualization of the reported mutations and their impact on the child's health;
- Conclusions – based on the genetic findings and the healthcare impact of each detected genetic mutation;
- Methodology – technical details about the DNA sequencing technology and genetic data analysis.
I’m a doctor. How can DNA.files BABY support the clinical follow-up of my patients?
The patient's gene information is unique, immutable and invaluable for their health management. DNA.files BABY is a unique clinical decision support tool. In addition to the immediate benefits, allowing a faster and more appropriate clinical follow-up to prevent or mitigate the development of severe diseases; it also has long-term benefits, since genetic information is stored in our database and can be consulted in the future to support the diagnosis of other pathologies.
Privacy & Security
What is genetic data?
Genetic data comprise the complete sequence of all 20 000 human genes.
Where is my genetic data stored?
Personal and genetic data are stored in the CBR Genomics' Database, embedded by our patented Technology - Genome Query Handling (WO 2017/102390 Al) -, that allows secure, encrypted, anonymous and confidential storage of our customers' data, supported by an ISO 27001:2013, 27017:2015, 27018:2019 and ISO/IEC 9001:2015 compliant environment.
- Secure storage: The information is encrypted and stored in a certified data center, with strict backup rules.
- Controlled access: The data access only happens to obtain genomic information requested by an authorised physician, after the patient's consent.
- Total anonymity: Personal and genetic data are physically disconnected, ensuring patient anonymity. Its association only occurs by using the patient's unique key.
How long will my data be stored?
Personal and genetic data are stored for an initial period of 10 years, which can be later extended.
Who is the data owner?
We are fully compliant with GDPR and national legislation, which means that the person is always the owner of all health information, namely personal and genetic data, and analysis results in clinical report format. In some cases, for instance minority or psychological incapacity, the legal representatives are responsible for managing and protecting this information.
What happens to data when my child is no longer a minor and/or incapacity ceases?
At that time, the person becomes able to manage his/her personal and genetic data independently.
Who has access the genetic data?
Genetic data is highly complex and sensitive information and its access is strictly regulated. Only certified and clinical geneticists are able to analyse and interpret this information. These professionals access genetic data upon authorisation through informed consent by the data owner or the legal representative.
Still have questions?
If you already decided to go forward, book an appointment. If you still have questions, please contact us.
Because your baby’s healthcare starts from the first moment.