Celiac disease testing

Posted on November 23, 2018December 28, 2018 by admin

What is celiac disease ?

Celiac disease is a medical condition, primarily affecting Caucasians, and is characterized by gluten sensitivity. It is also known as gluten intolerance, non-tropical sprue or gluten-induced enteropathy. Having celiac disease is permanent, and symptoms only manifest in predisposed individuals when exposed to dietary gluten. Gluten is a mixture of proteins present in cereal seeds like barley, oats, wheat and rye. In this mixture is a protein known as gliadin that is responsible for triggering the symptoms of celiac disease.

What are the symptoms of celiac disease ?

The symptoms of celiac disease vary in every predisposed person. The main symptoms may include bloating, abdominal cramping, flatulence, diarrhea, weight loss, decreased digestion and steatorrhea. Other atypical symptoms may include depression, headaches, mental confusion, fatigue, mouth ulcers, patchy hair loss, iron-deficiency anemia, constipation, skin problems like psoriasis, anxiety, autoimmune disorders, joint and muscle pain, numbness of leg or arm and so on.

The cause of celiac disease is multifactorial, meaning, its cause is dependent on the interactions of many factors such as genetic, environmental and immunological. However, in general the symptoms of celiac disease are triggered by the ingestion of gluten, aberrancies in the absorption of nutrients across the intestines, and having a genetic predisposition.

How is the diagnosis of celiac disease done ?

If you have symptoms of celiac disease, or if you have a family member who already has celiac disease, then it is recommended that you have a diagnostic test for celiac disease with an antibody screen blood test. This test initially involves the detection and quantification of antibodies to the tTG (Tissue Transglutaminase) and IgA markers in your blood.

If you are a child younger than 2 years, then testing for the Deamidated Gliadin antibody and IgG antibody blood markers should also be included. Depending on the results, testing for other antibodies to the Endomysial blood marker may be required. If you have celiac disease and you ingest gluten, the levels of these antibody blood markers will be significantly higher than normal levels, and the test result will be positive in about 98% of individuals who have celiac disease.

For healthy individuals without celiac disease, a negative test result will appear for 95%. Since these blood markers are produced by the immune system, someone who has celiac disease upon consuming gluten, induces an immune system response leading to the aberrant elevation in the levels of these blood markers. Therefore, you must be on a gluten containing diet in order to maximize the accuracy of this celiac disease diagnostic blood test. However, if you have a gluten free diet, it will cause ambiguous results in the celiac disease antibody screen test.

Therefore, it is important to discuss with your healthcare provider your dietary requirements for the gluten challenge, and whether you are a suitable candidate, prior to undertaking this diagnostic test. It must be noted that a false positive test result could emerge for someone with an existing medical condition and without having celiac disease. These individuals have an associated autoimmune disorders like autoimmune liver disease, Psoriatic or rheumatoid arthritis, Hashimoto’s thryoiditis, diabetes mellitus type 1, and so on. In conjunction, with the celiac disease antibody screen test, a follow up test that examines a biopsy of your small intestinal tissue is recommended for more definitive diagnosis.

Who needs to get diagnostic testing for celiac disease ?

You should discuss with your healthcare provider whether you are a suitable candidate to test for celiac disease and what are the diagnostic testing requirements. However, in general it is recommended for celiac disease diagnostic testing:

If you have symptoms of celiac disease, including children older than 3 years of age.
If you have a first degree relative who has already been diagnosed with celiac disease.
If you have an existing autoimmune disease or a disease associated with immune system problems, such as Williams syndrome, Turner syndrome, autoimmune thyroid disease, diabetes mellitus type 1, autoimmune liver disease, selective immunoglobulin A deficiency and so on.

Is celiac disease inherited ?

Celiac disease is not inherited, but the susceptibility to developing celiac disease is inherited. The risk for developing celiac disease is influenced primarily by the human leukocyte antigen genes: HLA-DQA1 and HLA-DQB1. Specific mutations in the HLA-DQA1 gene results in the HLA-DQ2 genetic marker, while specific mutations in the HLA-DQB1 gene results in the HLA-DQ8 genetic marker.

The human leukocyte antigens function in the immune system to help the body distinguish between entities that are part of the body, and those that are considered foreign entities or entities that have been introduced to the body such as microorganisms or things that are consumed such as from the diet. There could be other non-human leukocyte antigen genes involved, but more medical research is needed to establish the roles of such genes with celiac disease.

More than 98% of patients with celiac disease have a specific type of mutation either in the HLA-DQ2 and/or HLA-DQ8 genetic markers. Therefore, genetic testing / DNA testing is important to identify these genetic markers in a person and to help establish the status of genetic predisposition to celiac disease. However, it must be noted that up to 40% of the general population also have these genetic marker mutations and never develop celiac disease.

Genetic testing / DNA testing for the detection of the HLA -DQ2 and/or HLA-DQ8 genetic markers, is not used to diagnose you with celiac disease. However, if Genetic testing / DNA testing uncovers that you carry the HLA-DQ2 and/or HLA-DQ8 genetic marker mutations, your risk for developing celiac disease increases to 3%, when compared to the general population risk of less than 1% for developing celiac disease and without having these specific genetic marker mutations.

It could be for those who develop celiac disease, these genetic marker mutations may imply other complex factors like the environment that could corroborate in increasing the risk. Most remarkable, individuals who have both HLA-DQ2 and HLA-DQ8 genetic mutations are most likely to develop celiac disease than those having only the HLA-DQ8 genetic mutation, but the risk is the same compared to those with having only the HLA-DQ2 genetic mutation. There is no difference in the severity of symptoms between individuals who have only the HLA-DQ2 or only the HLA-DQ8 genetic mutations, but individuals with only the HLA-DQ2 genetic mutation have a higher risk for developing celiac disease than those having only the HLA-DQ8 genetic mutation.

Since the susceptibility to developing celiac disease is genetic, Genetic testing / DNA testing can be used to infer the risks of other family members for developing celiac disease. For instance, if your first degree family member such as your child, sibling, and parent shares the same HLA-DQ2 and/or HLA-DQ8 genetic mutations as a family member with celiac disease, your family member has a 10 to 40% risk of also developing celiac disease. This is significantly higher, when the overall risk for developing celiac disease is less than 1% when the HLA-DQ2 and/or HLA-DQ8 genetic mutations are absent.

A negative result obtained from genetic testing / DNA testing of a first degree family member implies that the possibility for those related family members to develop celiac disease can be excluded. Genetic testing / DNA testing for the susceptibility to develop celiac disease is important and recommended for family members, especially children, of those individuals who already have celiac disease. First degree family members identified with positive results of the HLA-DQ2 and/or HLA-DQ8 genetic mutations are recommended to be screened for celiac disease every 3 to 5 years.

Who needs to get genetic testing / DNA testing for celiac disease predisposition ?

Celiac disease screen with a panel of antibody markers is used to diagnose celiac disease. However, for those individuals who are on a gluten free diet, it may obscure the accuracy of the celiac disease antibody blood test. Therefore, genetic testing / DNA testing for celiac disease predisposition is recommended under the following scenarios:

To test your other family members if you already have celiac disease. A negative genetic test / DNA test result will imply there is a 99% chance that your family member will not develop celiac disease. A positive genetic test / DNA test result will imply that your family member has increased risk of developing celiac disease and should be diagnostically screened for celiac disease every 2 to 3 years, or immediately if symptoms of celiac disease appear.
To resolve the uncertainty in the diagnosis of celiac disease, or ambiguous/conflicting results obtained from the celiac disease antibody screen, as well as from small intestinal biopsy examinations.

At CEN4GEN, we offer both celiac disease antibody based diagnostic testing, as well as DNA testing / genetic testing for determining the susceptibility of developing celiac disease. To learn more about how our testing options can suit your needs, contact us at contact@cen4gen.org, and a representative will guide you through the testing process and provide more information for you and your healthcare provider.

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Genetic testing / DNA testing

Posted on November 9, 2018January 11, 2019 by admin

What is DNA testing / genetic testing ?

The human body is made up of billions of cells, the building blocks of the body. Each cell of the human body contains chemical information known as DNA (Deoxyribonucleic acid) that encodes the inherent physical and functional properties of the cell, and collectively defines who you are physically and how your body functions, behaves and responds to physiological and environmental cues. The DNA in each human cell is organized into structures known as chromosomes which help to maintain the integrity and function of DNA. Most cells of the human body have 23 pairs of chromosomes, with each inherited from your mother or father.

Each chromosome contains several thousand genes which are organized on the DNA and serve as codes or instructions to produce other molecules such as proteins, and essentially to provide instructions on how cells function, grow and establish the building blocks of the human body. Genetics is the study of inheritance, gene structure and function. Genetic testing, also known as DNA testing, is a test that identifies and reports changes in the genetic and sometimes protein function/content of biological specimens analyzed.

These changes in the DNA content or information can also be traced back to which parent it was inherited from on many occasions, and such could also influence the interpretation of genetic findings. With advances in technologies and in the science of genomics for medical applications, DNA testing / genetic testing could also be considered medical genetic testing, molecular diagnostic testing, genome medicine, or genomic medicine.

How is DNA testing / genetic testing done ?

DNA is extracted from biological specimens such blood, saliva, tissue biopsy and so on, and the genetic material is subjected to cutting edge DNA, chromosome, or genome analysis technologies to produce data which are then interpreted by experts in genetic data analysis (known as bioinformaticians) and by genetic specialists to make conclusions of the findings, and within the context of your health.

Sometimes, other than DNA, proteins or other biochemical molecules are analyzed from biological specimens and on many occasions, the findings can be supported and confirmed by DNA analysis. More than 5000 genes of the human genome are known to have clinical significance and/or medical relevance in responding to treatments. Such findings have led to the development of numerous DNA testing / genetic testing options for human disease diagnostic applications. Other than human, DNA testing / genetic testing can also be undertaken on any organism in which we have some knowledge of its genetics, gene function and DNA chemical information (known as DNA sequence information).

In general, the technologies and genetic testing strategies used to analyze human biological samples can be adequately used on most occasions to analyze non-human samples. An example is using DNA testing on human biological samples to extract genetic material from microorganisms and/or pathogens to diagnose infectious diseases in humans, or to establish relevance to your health.

What are the benefits of DNA testing / genetic testing ?

DNA testing / genetic testing has many benefits to offer you and your healthcare provider. Findings from DNA testing / genetic testing can help you and your healthcare provider:

1) confirm or exclude the suspected diagnosis of a genetic medical condition or illness you may have;

2) identify whether you could be a carrier and at high risk of transmitting a genetic medical condition or illness to your future child or children;

3) determine whether you are at high risk of developing a genetic medical condition or illness, such as cancer and heart disease, at a later age in your life;

4) establish whether you are biologically related to other people;

5) identify suitable medications that could better and more cost effectively treat your medical condition or illness;

6) determine whether someone is a suitable match to you for organ or tissue transplantation;

7) explain certain traits or features that you have;

8) make lifestyle and dietary changes for a healthier life;

9) make better reproductive and family planning decisions;

10) obtain better clinical care which could potentially delay or prevent the onset of some genetic medical conditions and could potentially lead to living a healthier and longer life.

Who should get DNA testing / genetic testing ? Is DNA testing / genetic testing a good idea for me ?

DNA testing / Genetic testing is voluntary, and a recommendation to have a DNA testing / genetic testing is determined on an individual basis. The most common criteria for DNA testing / genetic testing is whether the medical condition, illness or trait under investigation is already present in one or more of your biological family members, or there is well established clinical evidence that the medical condition, illness or trait has a genetic cause. In many occasions, some individuals would have classic clinical features or symptoms reminiscent of a genetic medical condition but such clinical features or symptoms are absent among their family members.

In this example, the medical condition is speculated to be sporadic or de novo in the individual, and DNA testing / genetic testing options can be used to determine more precisely the diagnosis of the medical condition or illness. If you are in the need for an organ or tissue transplantation, DNA testing / genetic testing can also provide more precise matching of individuals for such transplantation. Furthermore, if your current medications have adverse side effects, such as inducing allergic reactions, or are too expensive or are not effectively treating your medical condition or illness, DNA testing / genetic testing can help you find more suitable medications. Other than for medical applications, DNA testing / genetic testing can also be used to help you determine if you are biologically related to someone, and to establish the extent of relatedness and ancestry.

Apart from the numerous benefits of DNA testing / genetic testing has to offer you, it does have limitations and risks. Therefore, it is important for you to discuss with your healthcare provider the psycho-social, and pros and cons of DNA testing / genetic testing prior to pursuing such testing option. For instance, if you are a healthy person, a positive result from a DNA test / genetic test does not necessarily mean you will develop a medical condition, or if you do there could be variations in the severity of the symptoms of a medical condition where you only get very mild symptoms. If your DNA test / genetic test results show you are negative for a medical condition or illness, it does not guarantee that you do not have or would develop such medical condition since other factors could potentially also cause the same medical condition. It must also be noted that the Genetic Information Nondiscrimination ActMolecular genetic testing (GINA) generally prevents health insurance providers from discriminating against you based on your DNA testing / genetic testing results. You should contact your local provincial/state representatives to learn how you are protected by GINA.

What are the types of DNA testing / genetic testing ?

Within the context of DNA testing / genetic testing of humans, there are many medical applications that can be undertaken, and each type of DNA testing / genetic testing application is done in a different manner. Some of these DNA testing / genetic testing applications include:

1) Molecular genetic testing:

This is a type of DNA testing / genetic testing to analyze parts of a gene, single genes or sometimes panels of genes to identify mutations that could be associated with your medical condition or illness. This type of testing can identify single mutation variants, gene repeat mutations, DNA modification mutations (known as methylation or epigenetic mutations), small copy number changes within a gene, aberrancies in how a gene or assortment of genes are inherited from a parent (known as uniparental disomy mutations), and so on.

2) Cytogenetic testing: This is a type of DNA testing /genetic testing to analyze large segments of DNA in the form of chromosomes to determine if there are any changes such as gross gain or loss of chromosome content, fusions between two different chromosomes, other complex chromosome aberrations and so on, that could be associated with your medical condition or illness. Cytogenetic testing is most often recommended if you have symptoms including developmental, movement, speech, or learning problems.

3) Biochemical genetic testing: This is a type of genetic testing that analyzes proteins or biochemical molecules produced by cells, to determine if there are any aberrancies that could be associated with your medical condition, metabolic condition or illness. Confirmation of these biochemical genetic findings is often followed up by molecular genetic testing.

4) Personal genome testing: With the recent availability of cutting edge genome analysis technologies, it has made possible very cost effective and efficient analysis of all genes (known as exome analysis), as well as complete genomes (known as whole genome analysis). This type of DNA testing / genetic testing investigates all genes or complete DNA of a person and correlates findings with an associated medical condition, illness or trait. It is currently the most thorough examination available to provide you a blueprint of genetic insights into your DNA.

5) Carrier genetic testing or Pan ethnic carrier genetic testing: This is a type of DNA testing / genetic testing to determine if you are a carrier of a genetic disorder, and is recommended for family planning. This type of test focuses more on what is called genetic conditions which are associated with recessive inheritance, in which on most occasions two defective copies of a gene need to be inherited from both parents. Individuals tend to be asymptomatic or have no symptoms if they are a carrier for most of these genetic disorders, but if the genetic mutation(s) is transmitted by both parents to the child, then a medical condition or illness could manifest fully in their child. It is highly recommended if you belong to an ethnic group or have a family history of a genetic disorder, to have this type of DNA testing / genetic testing done before you start a family.

6) Presymptomatic genetic testing: This type of DNA testing / genetic testing is recommended if you have a family history of a genetic medical condition or illness but with no current symptoms yet. This test is used to detect if you have any genetic findings associated with such medical condition or illness. Often, the testing results could be used to delay or even prevent the onset of such medical condition or illness; obtain better clinical care with your healthcare providers; or plan changes in your lifestyle and dietary habits.

7) Predictive genetic testing: This type of DNA testing / genetic testing is used to determine if you as a healthy individual with or without a family history, could develop certain genetic medical conditions or illnesses. It examines the potential for developing medical conditions during adulthood, such as cancer, heart disease and so on. The testing results could be used to receive better clinical care with your healthcare providers to delay or even prevent the onset of the medical condition, as well as to make changes to your lifestyle and dietary habits.

8) Newborn screen genetic testing: This is a type of DNA testing / genetic testing which uses combined biochemical and molecular genetic techniques to screen newborn babies for very common genetic medical and metabolic conditions prevalent in the population. The majority of these genetic disorders screened are treatable when detected early in the infant, and therefore reinforces the importance of this type of DNA testing / genetic testing for your newborn infant.

9) Prenatal genetic testing: This type of DNA testing / genetic testing investigates genetic material harvested from your developing fetus for a suspected genetic medical condition. Invasive prenatal genetic testing requires the analysis of fetal material which is extracted from the expectant mother in procedures known as amniocentesis, percutaneous umbilical blood sampling, or chorionic villus sampling. On the other hand, non-invasive prenatal testing involves the analysis of fetal material known as fetal circulating free DNA which is extracted from the venous blood of an expectant mother. This method is currently used often to screen for Downs syndrome, and other common chromosome aberrancies, if you are an expectant mother. However, because the yield and integrity of fetal DNA harvested from non-invasive procedures is generally significantly lower than fetal DNA harvested from using invasive procedures, there are some limitations regarding the extent of testing that can be done with fetal circulating free DNA. Despite this, non-invasive prenatal genetic testing provides several prominent advantages including making prenatal genetic testing feasible as early as 10 weeks of the pregnancy, and only requiring venous blood from the expectant mother without harming the developing fetus from invasive procedures.

10) Preimplantation genetic testing: This is a type of DNA testing / genetic testing to identify genetic problems very early within embryos that are created by in vitro fertilization (IVF), before an official pregnancy starts. This test can benefit you if you are a high risk couple, by lowering the risk or even preventing the transmission of certain known genetic condition(s) to your child. It could also eliminate your dilemma of pregnancy termination often associated with the unfavorable prenatal diagnosis of a genetic medical condition.

11) Pharmacogenomic genetic testing: This type of DNA testing / genetic testing examines the influence of certain mutations in your DNA and how they influence your body’s response to certain medications. This DNA testing / genetic testing information can be used to identify medications that are more suitable, potent, cost effective and have less adverse side effects for treating your medical conditions or illnesses.

12) Infectious disease DNA testing / genetic testing: This type of DNA testing / genetic testing identifies the presence or absence of genetic material associated with microorganisms or pathogens in human biological samples, and correlates such finding with the diagnosis your infection or how your health can be affected. Nucleic amplification test (NAAT), as well as clinical metagenomic tests are the most cutting edge methods with high sensitivity and accuracy for microorganism and pathogen detection, compared to prior conventional laboratory based methods for infectious disease diagnosis. Furthermore, clinical metagenomic testing offers the ability for the detection of rare to extremely rare pathogens and could be helpful to establish a diagnosis when your doctor is uncertain what is causing your infection.

13) Paternity / siblingship / relationship DNA testing: This is a type of DNA testing which uses a series of unique genetic markers of the human genome to establish with statistical certainty whether you are biologically related or not to other people. It could be important to support your diagnostic findings, when there is evidence of non-paternity or non-biological relationship from the DNA testing / genetic testing.

At CEN4GEN, we offer all of the above DNA testing / genetic testing options. To learn more about how our testing options can suit your needs, contact us at contact@cen4gen.org, and a representative will guide you through the testing process and provide more information for you and your healthcare provider.

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Pharmacogenomic testing

Posted on November 6, 2018December 28, 2018 by admin

What is pharmacogenomic or pharmacogenetic testing ?

Pharmacogenomic testing, also known as pharmacogenetic testing, is a special DNA testing / genetic testing to determine how your genes or genetic makeup can alter your body’s response to certain medications you take to treat your medical conditions or illnesses. The origin of the word is from pharmacology, which is the science of medication/drug metabolism; and genomics/genetics, which is the science of inheritance, genes and their respective functions. Each cell of the human body has several thousand genes that function to determine what your body is physically and how your body functions.

A subset of these genes is responsible for how your body uptakes and processes medications, in an overall process known as drug uptake and metabolism. In the special type of DNA testing / genetic testing known as pharmacogenomic testing, certain mutations of genes involved in medication/drug uptake and metabolism are analyzed to detect their presence or absence. Furthermore, these DNA testing / genetic testing findings are correlated with respect to the science of how these mutations in certain genes respond to medications/drugs that you take to treat your medical conditions or illnesses. Other factors such as your diet, lifestyle, age, ethnicity and other medications that you concurrently take for treating different medical conditions or illnesses may sometimes influence how your genetic makeup could respond to certain medications/drugs.

Who should take pharmacogenomic testing and why is pharmacogenomic testing important for you ?

When a biological specimen such as saliva or blood is taken from you and analysed, this DNA testing / genetic testing essentially provides insights on whether a medication is suitable for treating your illness or medical condition. Since your genetic makeup does not significantly change over time, you will only need to take the test once.

At CEN4GEN, we offer you a comprehensive pharmacogenomic test that will provide a blueprint of an extensive list of several hundred common medications used to treat a wide spectrum of illnesses in the population and is a valuable medical resource for your health. It is recommended that all of CEN4GEN pharmacogenomic testing results be shared with your healthcare providers to ensure that you get the best support for treating your medical conditions or illnesses. Pharmacogenomic testing is currently unavailable for all medications and especially for over the counter medications.

However, the science of pharmacogenomics is evolving and with future advances in science and medicine, you may choose to retake this genetic test with CEN4GEN in the future years pending on how much more advances have emerged in this field of DNA testing / genetic testing. CEN4GEN frequently updates its pharmacogenomic testing platform with emerging evidence based pharmaceutical, scientific and medical discoveries.

The need for a pharmacogenetic test is decided on an individual basis. This DNA testing / genetic testing is very useful for those individuals who seek better health/medication treatment options, because pharmacogenomic testing can provide you with important insights on:

1)whether your current medication is effective in treating your current medical condition;

2) what is the best recommended dose of your current medication that can more effectively treat your current medical condition;

3) whether there are other less expensive or more potent options of medications that can be used instead to treat your current medical condition;

4) whether there are other medications that you can use that have less adverse side effects including allergic reactions, that you can use to treat your current medical condition. Together with your healthcare provider, information gathered from this type of genetic testing is very important to determine which medication can potentially best treat your current medical condition or illness. Because this DNA test / genetic test highlights a list of medications and their responses to you based on your genetic makeup, this DNA test / genetic test can further help you in accomplishing faster treatments leading to significantly faster recovery from an illness on many occasions.

In addition, it offers more cost effective treatment incentives in which you could spend less each year on medications needed to treat your illnesses. Because you and a biological family member share similar genetic makeup to a certain extent, your testing results could also potentially imply that a biological family member may have a similar response to certain medications and therefore, it is recommended to share your pharmacogenomic test results with your biological family member(s) who may be seeking better treatments for their illness or medical condition. Together with your healthcare provider, recommendations could be made to your biological family members regarding this type of DNA testing / genetic testing and how it could benefit their health.

How much does pharmacogenomic testing cost ?

The costs for pharmacogenomic testing varies depending on the thoroughness of the available testing options. Moreover, some medical insurance programs may reimburse this type of DNA testing / genetic testing depending on their policies and reasons for testing. CEN4GEN does not make any claims of guarantee that any or all of its pharmacogenomic testing options can be reimbursed fully or partially by a medical insurance program. You should ask your medical insurance provider if you are covered or not. Finally, the Genetic Information Nondiscrimination Act (GINA) generally prevents health insurance providers from discriminating against you based on your DNA testing / genetic testing results. GINA could have modifications in its policies depending on where you live, therefore, you should ask your local provincial/state officials to determine how you are protected by GINA.

To learn more about CEN4GEN pharmacogenomic testing options or to order a test, contact CEN4GEN at contact@cen4gen.org, and a representative will guide you with the testing process and provide relevant information for you and your healthcare provider.

Order a test or contact us