Genetic testing packages and how to choose the most suitable test for you and your family
Genetic testing has become an important tool for understanding genetic factors that may affect human health or increase the likelihood of developing certain diseases. With the multitude of tests available, it can be difficult to determine the appropriate package, especially since each test is designed to answer different health questions.
Comparing the genetic testing packages available at Enigma Genomics helps to understand the purpose of each package, the target audience, and the difference between comprehensive genetic testing and specialized tests.
It's important to understand that genetic testing isn't chosen solely based on price or the number of genes, but also on medical and family history, and the purpose of the test. Furthermore, the results often require interpretation by a specialist physician or genetic counselor.
What are genetic testing packages?
Genetic testing is a medical test that looks for changes in genes, chromosomes, or proteins. Its results may help diagnose a genetic condition, determine the likelihood of developing a particular disease, or identify whether a person carries a genetic variant that can be passed on to their children.
Enigma Genomics' genetic testing packages include five main tests that differ in their purpose, scope of analysis, and target audience. These include comprehensive genetic testing, comprehensive cancer genetic testing, autism and learning disability testing, premarital and pregnancy testing, and genetic obesity testing.
A quick comparison of genetic testing packages
The comprehensive genetic test aims to provide a broad assessment of genetic factors and diseases, and its apparent price starts from 3770 Saudi Riyals.
The comprehensive genetic cancer test aims to assess the genetic predisposition to certain types of cancer, and its apparent price starts from 1870 Saudi Riyals.
Tests for autism and learning disabilities look at 241 genes associated with developmental conditions and their apparent price starts from 1870 Saudi Riyals.
Premarital and pregnancy screening checks for the possibility of carrying genetic diseases that may be passed on to children. According to the store's description, it includes 550 genetic diseases, and its displayed price starts from 2270 Saudi Riyals.
The genetic obesity test looks for 65 genes associated with obesity and its apparent price starts from 1870 Saudi Riyals.
The prices shown above are the prices displayed in the store for Saudis at the time of comparison and may change according to nationality, taxes, or store updates.
Comprehensive genetic testing
The comprehensive genetic test is the broadest and most expensive package available, and according to the store's description, the test aims to provide comprehensive information about the impact of genes on health and the likelihood of developing certain genetic diseases.
This type of examination can help in finding an explanation for a health condition or symptoms for which doctors have not found a clear cause, and may also provide information related to prevention, early diagnosis, and reproductive options.
Comprehensive genetic testing may be appropriate for individuals with complex symptoms or multiple health problems suspected to have a genetic cause. It may also be suitable for families with a history of multiple genetic diseases or in cases where a geneticist has recommended extensive testing.
Describing a package as comprehensive does not mean it detects all diseases or all possible genetic changes; therefore, it is essential to know the scope of the test, the technology used, and the types of variants the laboratory can detect before making a decision.
Comprehensive genetic testing for cancer
The comprehensive genetic cancer screening package is aimed at people who want to assess their likelihood of having a genetic predisposition to certain types of cancer and may be particularly important when cancer recurs in the family or appears at a young age.
The results can contribute to developing an appropriate follow-up plan, such as starting some periodic checkups at a younger age or having them at a different frequency according to the doctor's recommendations. The store also notes that the package may help the doctor choose the appropriate treatment for some cancer patients.
This package may be considered when more than one family member has the same type of cancer, or if cancer appears at a younger age than usual, or if the person has more than one type of tumor, or if there is a known genetic mutation in a relative.
A result indicating a high genetic predisposition does not necessarily mean that a person will develop cancer, and a negative result does not eliminate the need for routine preventative screenings, as age, lifestyle, environment, and family history remain influential factors.
It is important to ask the service provider whether the test is looking for inherited genetic changes, changes within the tumor tissue, or both, as each type has a different purpose and use.
Autism and learning disability tests
The autism and learning disability testing package, as described by the store, examines 241 genes associated with autism, developmental delays, learning disabilities, and some genetic conditions with similar symptoms.
The examination may help identify a possible genetic cause in some children, especially when there is developmental delay, intellectual disability, birth defects, epileptic seizures, or a family history of similar conditions.
Genetic testing alone does not diagnose autism or learning disabilities. Autism diagnosis relies on developmental history and observation of communication, behavior, and social interaction, while learning disabilities require psychological, educational, and academic testing.
Finding a genetic change may help the medical team explain some of the child's symptoms, monitor health problems that may be related to the discovered genetic condition, and determine whether other family members need to be tested.
The result can also provide information about the likelihood of the condition recurring in a future pregnancy, but a negative result does not rule out autism or learning disabilities because some cases have no known genetic cause or the test used cannot detect it.
Premarital and pregnancy screening
The premarital and pregnancy screening package aims to help those about to get married or planning to have children to identify the possibility of carrying genetic changes associated with certain diseases.
According to the store's description, the test includes 550 genetic diseases, some of which may affect fertility or the future health of children. The results can be used to discuss appropriate reproductive options with a geneticist or genetic counselor.
Traditional premarital screening focuses on a specific set of common infectious and genetic diseases, depending on each country's healthcare system. Extensive genetic testing, however, typically examines a wider range of diseases that a person may carry without showing symptoms.
If both parents carry variants associated with the same recessive disease, there is a possibility of having an affected child, but the probability and mode of transmission vary depending on the gene and the specific condition. Therefore, the results for both partners should be interpreted by a specialist.
This package does not guarantee the birth of a child free from all diseases, as there is no test that can detect all genetic and non-genetic causes of health problems.
genetic obesity testing
The genetic obesity test, as described by the store, examines 65 genes associated with obesity and may be particularly useful in cases of obesity that begin at an early age, are accompanied by a persistent and intense feeling of hunger, or run clearly in families.
Identifying a potential genetic cause can help guide medical evaluation and develop a more appropriate follow-up plan for some cases, but most cases of obesity result from the interaction of multiple genetic, environmental, and behavioral factors, rather than from a change in a single gene.
The test does not replace the need to evaluate diet, physical activity, sleep, and medications, or to investigate hormonal and medical causes when necessary. Furthermore, diet should not be changed, nor should obesity treatment be initiated, based solely on the genetic report without consulting a doctor.
How to choose the right genetic testing package
If you are looking for a comprehensive evaluation of multiple symptoms or genetic conditions, a complete genetic test may be the closest thing to what you need.
If there is a strong personal or family history of cancer, comprehensive genetic testing for cancer can be discussed with a doctor or genetic counselor.
If a child has developmental delays or complex symptoms, the specialist may recommend an autism and learning disabilities package or another assessment more appropriate to their condition.
When planning for marriage or pregnancy, a premarital and pregnancy package helps assess the likelihood of carrying certain genetic diseases and passing them on to children.
In cases of early, severe, or recurrent obesity within the family, genetic obesity testing can be discussed with a doctor.
The larger package isn't always the best; targeted testing may be more beneficial and less expensive when specific symptoms or health conditions are present.
Important questions before purchasing the test
Before ordering any package, it is advisable to ask the service provider about the type of sample required, how it was collected, the technology used, the range of genes and changes covered by the test, and the expected time for the results.
It is also necessary to find out if the price includes a consultation before and after the test, how the laboratory handles uncertain variables, and whether a positive result requires confirmatory testing.
It is important to review the policy for protecting genetic samples and data, and to understand how they are stored, used, shared, and potentially reanalyzed in the future as medical knowledge evolves.
How to understand the results of a genetic test
The result may appear as a pathogenic or potentially pathogenic variant, a negative result, or a variant of uncertain significance.
A positive result does not always mean that the disease will appear, nor can it usually be accurately predicted when it will appear or its severity. A negative result means that the laboratory did not find the targeted changes, but it does not rule out all possible genetic causes.
Some results may be unclear at present due to insufficient scientific information about the detected genetic change, and in this case, no major medical decision should be made based on the result alone.
Comparing genetic testing packages depends on the medical purpose, not just the price or the number of genes. Comprehensive genetic testing offers a wide range, while other packages focus on cancer, developmental conditions, reproductive planning, or genetic obesity.
Choosing the right test and having it interpreted by a specialist helps to benefit from the results and avoid unnecessary anxiety or medical decisions. Therefore, it is advisable to consult a doctor or genetic counselor before requesting the test, especially if there are symptoms or a family history of a genetic disease.
The information provided is for informational purposes only and does not constitute medical advice or a substitute for consulting a doctor.