Sudden cardiac death: what is it and how is it related to sports?
Sudden death is defined as an unexpected death resulting from a heart problem or with no other explanation for what happened. Although the practice of regular physical activity has health benefits, high levels of sports intensity can increase the risk of sudden death in susceptible people (European Society of Cardiology, 2021).
Sudden cardiac death: what are the main causes?
In people over 40 years of age, most cases of sudden death are due to coronary heart disease. In younger people (< 40 years of age), sudden death cases are usually caused by hereditary heart diseases, such as cardiomyopathies and channelopathies (Primorac, et al., 2021).
What’s the importance of cardiovascular evaluation in athletes?
Cardiovascular diseases are the leading cause of death worldwide. Although most prevention strategies are based on adopting a healthy lifestyle, these are only a part of the reality. More and more scientific studies highlight that certain cardiovascular diseases have a genetic cause. If left untreated, these cardiac conditions may even lead to early deaths due to strokes, attacks and heart failure. Thus, according to the European Society of Cardiology, cardiac evaluation for sports practice in athletes of any level and age is essential to avoid serious health conditions or even early deaths (European Society of Cardiology, 2021).
What are the current screening tests available for cardiovascular disease in young athletes?
According to the European Society of Cardiology, the most common screening exams for cardiovascular evaluation in athletes include:
(1) Electrocardiogram: to evaluate cardiac electrical activity, but has limitations. Several studies report it is a clinical exam with low sensitivity.
(2) Echocardiogram: may identify additional structural alterations, but there is insufficient evidence to recommend it as a routine screening.
(3) Screening for ischemia with exercise testing: in asymptomatic adults, it has a low predictive value and a high number of false positives. Not recommended.
What is the importance of complementing cardiovascular evaluation in athletes with a genetic screening test?
A DNA screening test, such as DNA.files ATHLETE, allows to early detect DNA alterations associated with the development of hereditary heart diseases. Early detection combined with effective clinical actions enables the prevention or mitigation of severe illnesses development, or even sudden early deaths.
For whom is DNA.files ATHLETE?
DNA.files ATHLETE is a genetic screening service for amateur or professional athletes who, despite not having a family history of cardiovascular diseases, proactively manage their sports health; have a history of heart disease in the family; have symptoms suggestive of cardiovascular disease.
What are the main benefits of DNA.files ATHLETE for athletes and their physicians?
When an actionable cardiovascular disease-causing mutation is early detected, athletes can can receive the most appropriate treatment or clinical follow-up, quickly and effectively, in order to prevent or mitigate the development of those diseases. Physicians can better manage their athletes' health, promoting well-being and sports performance.
Is DNA.files ATHLETE a diagnostic test?
No, DNA.files ATHLETE is a genetic service to support athletes, and their sports physicians, on their healthcare management, by screening for DNA alterations that may lead to severe cardiac conditions, or even early deaths. 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.
Is DNA.files ATHLETE a substitute for the remaining cardiac evaluation exams for athletes?
No, DNA.files ATHLETE is clinical screening tool to complement other cardiology exams for sports practice, with additional benefits for the athlete’s healthcare. On the one hand, DNA.files ATHLETE allows to detect DNA alterations in over 60 genes causing 12 cardiovascular diseases, including hereditary cardiomyopathies and arrhythmias, to prevent or mitigate these conditions or even early deaths. On the other hand, since genetic data is securely stored, DNA becomes a life-long resource for health as genetic data. 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.
What makes DNA.files ATHLETE different from other genetic tests?
• DNA analyses are performed from a simple saliva sample collected through a non-invasive manner;
• Our unique DNA analysis methodology was validated through the In2Genome research Project - we analyse and interpret all mutations detected in the gene panel under analysis, instead of just consider those already described in the literature and, therefore, the detection rate and impact on patients' health is greater than other DNA analysis methodologies;
• The time to reach the test result is significantly reduced;
• The genetic data (sequence of all coding genes) is stored and can be reanalysed whenever needed, without investing time and money again for DNA sequencing.
When can DNA.files ATHLETE be performed?
DNA.files ATHLETE can be performed at any time during the athlete's health evaluation. Although there is no age limit, we recommend to perform it as soon as possible. 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 the related cardiovascular diseases.
Where can I perform the DNA.files ATHLETE genetic service?
DNA.files ATHLETE is performed by analysing the athlete’s DNA, collected from a saliva sample. This procedure may be performed in a hospital or in the comfort of home, without the requirement of a healthcare professional.
What does the DNA.files ATHLETE 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 more than 60 genes associated with 12 actionable cardiac diseases which, if undetected, can cause serious health problems or even sudden death in young athletes.
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.
Total price: €890
By whom was DNA.files ATHLETE developed?
DNA.files ATHLETE is a Clinical Genetics service for athletes, 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 ATHLETE?
Yes, the DNA analysis in asymptomatic athletes is prescribed by the geneticist physician after the medical appointment. Since genetic data contains highly sensitive and complex information, its access, analysis and interpretation are strictly regulated.
Should DNA.files ATHLETE be followed by genetic counselling?
Yes, DNA.files ATHLETE is a genetic service for asymptomatic athletes. Therefore, it can only be performed upon request by a Geneticist doctor and following a genetic counselling appointment and informed consent. In case of minority, it is required the informed consent from the young athlete’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 the athlete or, in case of minority, to the parents/legal representatives at an appropriate medical appointment.
What information will be transmitted during the medical appointment?
The doctor will provide the athlete or, in case of minority, the young athlete’s parents/ legal representatives with all relevant information about DNA.files ATHLETE, 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 athlete (in case of majority) or the child’s parents/ legal representatives (in case of minority) 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 ATHLETE?
We operate in full compliance with national legislation, so the medical prescription for the realisation of DNA.files ATHLETE is an integral part of the process. The prescription code will be required to complete the DNA.files ATHLETE kit order form.
How can I get the DNA.files ATHLETE kit?
After the doctor's prescription and signature of the Informed Consent for the DNA.files ATHLETE 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.
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 DNA.files ATHLETE 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 the athlete?
Yes, saliva is collected through a cheek smear. The process is simple, painless and without any risk to the athlete.
Who performs the sample collection?
The sample can be collected by the athlete itself or, in case of minority, by the child's parents/legal representatives. Once it is a simple process, it is not mandatory to be performed by a qualified professional. Even though, you can also ask a healthcare professional to help you on collecting the saliva sample.
What precautions should I take after and during saliva collection?
You should consider the instructions provided in the DNA.files ATHLETE kit. Moreover, we suggest you to perform the saliva collection during the fasting period and avoid the contact of any object with the mouth for at least 30 minutes before the saliva collection procedure.
Where should I send my saliva sample?
You must send the sample to our facilities. Shipping is free and you will receive all necessary instructions in the DNA.files ATHLETE kit.
Why perform DNA analysis from a saliva sample instead of blood?
DNA can be extracted from multiple biological samples, such as blood or saliva. However, the saliva collection process is simpler, painless and non-invasive.
In which laboratory is DNA sequenced?
DNA extraction and sequencing is performed by a clinical laboratory certified for genetic analysis located in Cambridge, UK – 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 turnaround time to 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 ATHLETE. 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 ATHLETE.
Who generates the clinical report?
The genetic analysis report is produced by the Genetics (molecular and clinical) team of CBR Genomics.
To whom is the clinical report sent?
With the permission of the athlete or, in case of minority, 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 ATHLETE, 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 ATHLETE support the clinical follow-up of my patients?
The patient's gene information is unique, immutable and invaluable for their health management. DNA.files ATHLETE 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 coding genes.
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 the young athlete 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.
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 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.
Prevention is the first step towards a heart full of health.