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Frequently asked questions

PrevenTest

What is PrevenTest testing?


PreventTest detects mutations (defects in the genes) that are linked to many of the most common cancers. These mutations can unknowlingly be passed from parent to child. PrevenTest screening is for patients with and without cancer. For patients with cancer, it can tell you more about your cancer and the options you have for treatment. For patients without cancer, it can inform you of your potential risks.




What genes and cancers do you test for?


PrevenTest looks at 36+ genes that are linked to 8+ hereditary cancers. These cancers are Breast, Ovarian, Colorectal, Endometrial, Melanoma, Pancreatic, Gastric, Prostate, and other less common cancers.




What is hereditary cancer?


Hereditary cancer syndrome is when a person has a mutation in their genes that puts them at increased risk of developing cancer. This mutation can be passed down from parent to child.




What should I do if I test positive for a genetic mutation?


After receiving genetic testing, it is recommended that you speak to a genetic counselor to best understand the impact of the test results. If you test positive for a hereditary cancer syndrome, it does not mean that you have cancer or that you will get cancer. Your provider can help you learn what preventative options you can take based on the risks associated to your cancer.




Who is cancer screening appropriate for?


There are many reasons people get tested. Patients with cancer or a history of cancer can use genetic testing to see if specialized and potentially more effective treatment options are available for them. These patients may also want to know if they are at increased risk for developing other "linked" cancers. Additionally, patients may want to know if their family members are at similar lifetime risk. Patients without cancer, but with a family history of cancer, may want to get tested to see if they are at increased risk of developing cancer. This can help physicians create a personalized prevention plan.




How often should I get re-tested?


Genetic testing is generally done only once as genetics rarely change. A doctor might recommend testing for genes that were not previously tested for.




Who should I speak to if I would like to learn more?


Your doctor or a local genetic counselor should be able to provide more information about cancer testing. You can find a genetic counselor through the National Society of Genetic Counselors (www.nsgc.com.)




How do I request a test?


Cancer testing is requested through your doctor. If your office is interested in testing and does not have kits, they can contact us at 201-825-0186 or email at shipping@geneidlab.com




How do you obtain the DNA sample?


The DNA sample is collected using mouthwash. It is simple and non-invasive.




Will this test tell me if I have cancer?


No. A positive result on the cancer screen is not a diagnosis of cancer.




What does a "Negative Result" mean?


Understanding Negative Results

If your test returns a negative result, it means that there are no known mutations in your genes that are associated with higher risks for cancer. For this reason, you are at a significantly lower risk for developing a hereditary cancer. However, the possibility for cancer is not completely eliminated.

In some cases, cancer may be present in a family without any known genetic reason for hereditary cancer. If this is relevant to your family, you may still be at risk. In consult with your healthcare provider, you may want to consider increasing your rate of cancer screenings to closely monitor areas that your history may dictate has an elevated cancer risk.

There are two types of negative results:

True-negative - The person is not a carrier of a known cancer-predisposing gene that has been positively identified in another family.

Indeterminate - The person is not a carrier of a known cancer-predisposing gene, and the carrier status of other family members is either also negative or unknown.

Risk and Management:

You may have been prompted to take a cancer genetic test after discovering a family history of cancer. Alternatively, you may have had cancer already and want to understand your risk of the cancer returning, or the chance of developing other cancer types. Family history or personal cancer history may increase your cancer risk compared to the general population.

Your testing report provides you information regarding the cancers related to your potential gene mutation. Once you have the results, you can mitigate your cancer risk with several options:

  • Increased screening to catch any potential cancers in their initial stages
  • Certain medications may be prescribed depending on the relevant condition
  • Lifestyle changes, including diet and exercise
  • Surgery

Together with your healthcare provider, one or several of these options may be discussed and implemented to personalize your prevention or treatment.

Family:

Since your results may affect the health of other family members, it is important to discuss and share your results with them. They may decide to consult their healthcare providers to see how your results might affect them, including the option for genetic testing.




What does a "Positive Result" mean?


If your test returns a positive result, it means that we identified a mutation that increases the risk of cancer. The key to proper management of your test results is first to understand the information provided in your report. With this information at hand, you can then fully understand your cancer risk and create a manageable plan to curtail that risk. GeneID’s report will guide you by explaining the genes, diseases or cancers in question, the general and reproductive recommendations, as well as the potential risks to family members, to achieve a holistic perspective of your and your family’s risk.

A positive result on a GeneID Cancer Genetics Panel means that you inherited a faulty gene from either one or both of your parents. This faulty gene, or mutation, increases your risk for one or several types of cancers.

It is important to distinguish between having a mutation and having cancer: if you test positive for a mutation, that does not mean that you have cancer, nor does it mean that you definitely will get cancer.

Risk and Management:

You may have been prompted to take a cancer genetic test after discovering a family history of cancer. Alternatively, you may have had cancer already and want to understand your risk of the cancer returning, or the chance of developing other cancer types. Family history or personal cancer history may increase your cancer risk compared to the general population.


Your testing report provides you information regarding the cancers related to your potential gene mutation. Once you have the results, you can mitigate your cancer risk with several options:

  • Increased screening to catch any potential cancers in their initial stages

  • Certain medications may be prescribed depending on the relevant condition

  • Lifestyle changes, including diet and exercise

  • Surgery

Together with your healthcare provider, one or several of these options may be discussed and implemented to personalize your prevention or treatment.

Family:

Since your results may affect the health of other family members, it is important to discuss and share your results with them. They may decide to consult their healthcare providers to see how your results might affect them, including the option for genetic testing.





NewbornGeneID

What is NewbornGeneID testing?


NewbornGeneID detects gene mutations (defects in the genes) linked to many of the most common and devastating diseases that can be passed unknowingly from parent to child. Newborn screening is a test for parents and prospective parents that provides information on whether a patient has a gene mutation(s) that are linked to a disease. The results provide information on the likelihood that a child will inherit one of a number of rare diseases.




What diseases do you test for?


Alpha Thalassemia, Aortic Dysfunctions, Beta Thalassemia, Bloom Disease, Canavan Disease, Cystic Fibrosis and CF related diseases, Familial Dysautonomia, Fanconi Anemia, Fragile-X, Galactosemia, Gaucher Disease, Glycogen Storage Disease Type IV, Long Q-T Syndrome, Maple Syrup Disease, Mucolipidosis Type IV, Niemann Pick Disease, Non-Syndromic Hearing Loss, OTC Deficiency, Phenylketonuria, Pompe Disease (Glycogen Storage Disease Type 2), Sickle Cell Disease (Anemia), Spinal Muscular Atrophy, Tay-Sachs and Usher Syndrome within others.




What is a hereditary genetic disease?


A genetic disease is a disease that is caused because of a mutation in an individual’s genetics. When this mutation is passed from parent to child, it is considered hereditary.




What does it mean if a trait is “dominant”, “recessive” or “X-linked”?


Most people are born with 46 chromosomes. Chromosomes contain genes, which is where our DNA is. DNA is the “instructional manual” of the body. These 46 chromosomes are made of 23 pairs of chromosomes. We get one chromosome from each of our parents. This means that for each trait in our body (with rare exceptions) we have 2 chromosomes that determine what that trait will be. In general, even if a person has different genes for a specific trait, only one of the genes will be visible. For example, if an individual has one gene for brown eyes and one for blue eyes, they will not have one brown eye and one blue eye. Instead they will have two brown eyes. This is because the gene for the color brown is “dominant.” Traits that are not dominant are called “recessive.” A recessive trait will only be apparent if the individual has two copies of that trait. An exception to the rule above are traits known as “X-linked” traits. These traits are linked to the X chromosome. Females have two X chromosomes while males have one X chromosome and one Y chromosome. This means that males do not have one section of gene (the second leg of the “X”). For recessive traits that are on this gene, females, who have 2 “X” genes, will require two mutated genes; by contrast, males, who receive a “Y” gene from their Dad, will have the disease if they inherit a mutated gene from their mother. For this reason, “X-Linked recessive disorders” are much more common amongst men than they are in women. Examples of X-linked recessive disorders include Hemophilia A and Red-green color blindness.




How common is it for a person to be a carrier?


The odds of being a carrier depend on the type of the disease and the individual’s ethnicity. In some studies, the incidence of testing positive as a carrier is as high as 25% or more when testing for a number of diseases at once. For cystic fibrosis, one of the more common diseases, the rates are: Table 1. Cystic Fibrosis Detection and Carrier Rates Before and After Testing Racial or Detection Carrier Risk Approximate Carrier Risk
Ethnic Group Rate* (%) Before Testing After Test Negative Result†
Ashkenazi Jewish 94 1/24 1/380 Non-Hispanic White 88 1/25 1/200 Hispanic White 72 1/58 1/200 African American 64 1/61 1/170 Asian American 49 1/94 1/180 *Detection rate data based on the use of a 23-mutation panel. †Bayesian statistics used to calculate approximate carrier risk after a negative test result. Modified from the American College of Medical Genetics. Technical Standards and Guidelines for CFTR Mutation Testing, 2006 Edition. Available at: http://www.acmg.net/Pages/ACMG_Activities/stds-2002/cf.htm. Retrieved December 16, 2010.




What does it mean if I test positive as a carrier?


Testing positive means that you are a carrier for a specific disease, in other words, you have a single faulty copy of the gene. It does not mean that you have the disease, nor does it mean that your children will have the disease. If your partner is also a carrier of a positive mutation for the same gene (even if it is a different mutation) any offspring are at a 1 in 4 risk of inheriting the disease.




What should I do if I test positive as a carrier for a specific disease(s)?


After getting genetic testing, it is recommended that you speak to a genetic counselor to best understand the impact of the test results. If you test positive for a disease it is important to test your partner to determine whether they are also a carrier. If you are pregnant you may want to test the child as well, although some of the diseases have no cure, (and the range of severity can vary amongst people with the same disease), so it is a personal decision.




What if I found out that my partner and I are both carriers?


Partners who are both carriers have a number of options that they may consider when looking to conceive. The decision regarding what steps to take is a personal one and can vary significantly based on the specific disease and personal factors related to the couple. Some people may decide not to do anything. That said, some of the options include: Conceive naturally Prenatal Screening In vitro fertilization; testing the egg for genetic diseases before it is implanted Using a sperm or egg donor who is not a carrier Adoption Choose not to have children




I noticed that a few of the diseases are passed on in autosomal dominant fashion. If none of my parents had the disease, why should I be tested?


In some cases, a parent may have a mutation for a disease, but the gene has incomplete penetrance and the disease does not occur until later in life, if at all. For this reason, it is important to test for certain diseases that are passed on in an autosomal dominant fashion, even though none of the parents show symptoms of the disease.




Who is carrier testing appropriate for?


There are several reasons why many types of individuals should consider carrier testing: The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommend offering screening for some genetic diseases to all patients who are considering having a child Many ethnicities, including Caucasian, African American, Hispanic, Ashkenazi Jewish and others who are at increased risk for certain genetic diseases Individuals with family members who have had an inherited disease, or have a known carrier mutation in the family, are at high risk of having a mutation Egg or sperm donors may require carrier testing




I am considering having children but do not have any history of genetic disease in my family. Is there reason for me to be tested?


Even without any history of genetic disease in your family there are reasons to consider genetic testing. Although most hereditary diseases are fairly uncommon, approximately 80% of all recessive diseases occur in families with no known family history. This is because the diseases only occur when a person has two defective (mutated) genes, one from each of their parents. It is often the case that no one in the family had the disease for generations because individuals only had a single copy of the defective gene. People with one copy of the mutation are referred to as “carriers” for the specific disease. Although the parents themselves are healthy, they do “carry” a faulty gene and can pass it down to their children.




Do I need to be screened each time I consider getting pregnant? How many times should I get tested?


Carrier testing is generally only done once as genetics rarely change. A doctor might recommend testing for diseases that were not previously tested for.




Whom should I speak to if I would like to learn more?


Your doctor or a local genetic counselor should be able to provide more information about carrier testing. You can find a genetic counselor through the National Society of Genetic Counselors (www.nsgc.com.)




How do I request a test?


Carrier testing is requested through your doctor. If your office is interested in testing and does not have kits, they can contact us at 201-825-0186 or email at shipping@geneidlab.com




What kind of sample do you use?


The DNA sample is collected using mouthwash and a cheek swab. It is simple and non-invasive.




Should my partner and I get tested at the same time?


Getting tested at the same time is not necessary, but will save time if one of the partners is a carrier for a disease. Often the female partner will get tested first, and the male partner will get screened if she tests positive for a disease, although either partner can be tested independently.




What are the testing options?


NewbornGene ID offers 2 testing options: • NewBornGene Panel - 62 genes covering 24 different types of conditions (testing covers many different types of conditions, for example there are multiple types of Usher Syndrome tested for) • Cystic Fibrosis Screen




What is Fragile-X Syndrome? Is it tested for in the Newborn Panel?


Fragile-X Syndrome is a genetic disease caused by a mutation on the X chromosome. According to the National Institute of Health (NIH) and the National Center for Biotechnology Information (NCBI), it is the most common form of inherited intellectual and developmental disease. Following the recommendation of The American Congress of Obstetricians and Gynecologists (ACOG), Fragile-X Syndrome testing should be included in any carrier test if it is specifically requested for by the female patient.





Billing

What is the difference between a BILL and an Explanation of Benefits (EOB)?


The explanation of benefits is a statement of charges created by your insurance company. The information included usually has the details of the services performed, the provider's charges, and how the charges are being processed by your insurance company. This information is an explanation for the patient and should not be confused with a bill.




How much will testing cost?


Most in-network patients have little to no out of pocket costs associated with genetic testing. Talk to your physician to see if your insurance covers genetic testing.




My insurance doesn't cover genetic testing - is there a private pay option?


Yes! GeneID offers a private pay option for individuals that are out of network or do not currently have health insurance. Call us at 1-866-436-3263 to learn more about our private pay and payment plan options.





Genetic Testing

What is DNA Sequencing?


DNA sequencing is a tool used to discover the precise content and order of the genetic information encoded in DNA. The potential for medical use of DNA sequencing information is incredibly high, giving both doctors and patients key information to make more informed medical decisions.




What is Next-Generation Sequencing?


Next-Generation sequencing (NGS), or Next-Gen sequencing, is a specific sequencing technique that has taken the research world by storm since its inception in the early 2000’s. With its ability to sequence quickly and efficiently, NGS is the perfect technique to provide medical professionals with important genetic information about their patients in a timely manner.




Why does the sequence of my DNA matter?


DNA sequence information is important because it may be an indicator/predictor of future disease, or a disease may be passed on to future children. Prior knowledge of future disease risk or risk for children to inherit a disease may influence the decisions made by you or your doctor. For example, a couple at serious risk to have a child inherit a fatal disease may opt, armed with the knowledge taken from their DNA sequences, to undergo in-vitro fertilization to prevent the birth of a child with a fatal genetic disease. Without the crucial information provided by DNA sequencing, the couple may not have been aware of their risk to have a child with a fatal disease, which may have affected their original reproductive decisions.




What is Genetics?


Genetics is the study of heredity and the variations of inherited characteristics. More specifically, genetics is the study of how physical or mental characteristics are passed down from one generation to the next generation. DNA is the instruction manual found in every cell in our body. It is written in a language with only four letters, ATCG. Each person’s DNA is roughly 6 billion letters long. A gene is a small unit within the DNA that codes for a specific action in the body. As an analogy, if the DNA is an encyclopedia, then genes are specific entries inside the encyclopedia.




What is a Genetic Variant/Mutation?


A genetic mutation, also known as a genetic variant, is a change in the DNA. While most changes in our DNA are harmless, occasionally a DNA change can have serious consequences, including an increased risk for cancer or for a serious genetic disease. Several types of mutations are possible:

  1. "Substitutions"
    1. "Missense Mutations" – a change in a single letter of DNA that leads to a change in the protein produced
    2. "Nonsense Mutations" – a single mutation that causes the code to stop the production of the protein chain earlier than it is supposed to
  2. "Frameshift Mutations"
    1. "Insertions" – a letter of DNA inserted inappropriately into the DNA code. DNA “words” are all 3 letters long, so adding a letter results in many words shifting; hence the name “frameshift mutation”.
    2. "Deletions" – a letter of DNA inappropriately removed from the DNA code. DNA “words” are all 3 letters long, so removing a letter results in many words shifting; hence the name “frameshift mutation”.
  3. "Rearrangements"
    1. Sections of DNA can become mixed up, disrupting certain proteins and their functions





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