Archive for the ‘Genetic Testing’ Category

Advances in our understanding of DNA, RNA and protein biomarkers have led to the development of genetic tests, molecular diagnostics and companion diagnostics that are changing our understanding and treatment of disease. Genetic testing can be used to:

As a healthcare professional, you can use the knowledge gained from genetic testing to educate your patients and take action to potentially reduce their risk of disease, diagnose it earlier or provide more informed and personalized treatment.

More than 1.5 million patients have benefitted from Myriads BRACAnalysistest, which was the first full-length gene sequencing test for a major, common disease and the standard of care for identifying individuals with hereditary breast and ovarian cancer.

Patients and their healthcare professionals trust Myriad to deliver what no other company can:

At Myriad, we are committed to providing the highest-quality laboratory testing and delivering accurate, clinically actionable results to help you make better, more informed decisions. The Myriad myVision Variant Classification Program enables us to provide unmatched variant classification so that that your patients genetic testing results are as accurate as possible, reducing uncertainty for patients and their families, and increasing your confidence in providing treatment recommendations.

Learn more about our commitment to quality:

Download Myriads Quality Assurance White Paper.

Approximately five to 10 percent of all cancers are hereditary. Patients with a hereditary cancer syndrome are at a significant risk for developing an initial cancer and a second primary cancer. Hereditary cancer is more prevalent than might be expected. In fact, there are very likely patients in your practice who carry the genetic mutations responsible for increased cancer risk. Identifying these patients through appropriate testing can potentially lead to improved treatment options, more appropriate plans for risk management, and, ultimately, better outcomes.

On this site and MyriadPro.com, you will find comprehensive information on the most common hereditary cancer syndromes, and why inherited mutations in certain genes can lead to increased risk for breast, ovarian, colorectal, endometrial, gastric, prostate and pancreatic cancers and melanoma. You also will learn how to identify the familial patterns associated with hereditary cancer, and the appropriate processes for applying the powerful diagnostic tool of genetic testing.

*Based on internal validation data.

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Myriad Genetics | Healthcare Professionals | About Genetic ...

What is genetic testing?

Genetic testing is a means of determining if you are carrying a genetic mutation which has the potential to cause a medical condition. The testing detects changes in the genes, chromosomes and proteins that could result in a genetic condition. It is typically used to assess the risk of developing an inherited disorder and the presence of abnormalities. The test results can be used to determine the chances of an individual developing an inherited disorder and the risk of a parent passing on a disorder to their child.

There are hundreds of different genetic tests being used and new tests are becoming available all the time. Testing usually involves a blood sample being taken and analysed - the sample contains DNA and this is analysed to check for mutations.

Genetic testing is generally only useful if a condition is known to be caused by a specific genetic mutation or abnormality. For example, spinal muscular atrophy is caused by a specific mutation, so it is possible to determine the risk of an individual developing the condition by analysing their DNA.

The testing is done on a voluntary basis and the decision to have a test is down to the individual. There is help and advice available from genetic counsellors to help you decide whether or not to have a test. There are advantages and disadvantages of testing with support and advice available to help you make a decision.

Genetic testing can be beneficial regardless of the result. If the result is negative this can provide great relief and peace of mind, while a positive result can enable people to prepare and start making decisions based on information about the condition and advice from doctors and genetic counsellors.

The test result can also give you an idea of your prognosis and enable doctors to be more specific in terms of the information they can give you. The results can also allow treatment planning at an early stage, which can have a positive effect on quality of life and life expectancy.

Test results also have the potential to aid people in making choices about their future, especially in terms of having children. If there is a low risk of passing on a genetic condition, this may give people peace of mind if they are considering having children. While a positive test result may contribute to people deciding not to have children if there is a high risk of their offspring developing the condition.

Screening tests for newborn babies can help to identify conditions at a very early stage, which enables doctors to treat the condition where possible and gives parents time to accept the test result and start preparing for the future.

The major difference between research testing and clinical testing is the purpose of testing: research testing is designed to find out new information about genes and genetics, while clinical testing is intended to learn more about a specific disorder in terms of how it affects an individual or a family unit.

Research testing is important for clinical testing as the more information researchers can find out the better the understanding for doctors and patients. Research testing involves finding new genes, linking genes and genetic mutations to specific medical conditions, and finding out how genes work and affect individuals. The results of research tests are not commonly available for public consumption.

Clinical genetic testing aims to provide patients and families with more information about specific genetic conditions. The results of clinical genetic tests are used to inform people about their condition, so that they are able to make well-informed decisions about their future. Results are also used by doctors to draw-up suitable treatment plans.

It is essential for people to be aware of the difference between research and clinical genetics testing. Patients must consent to both types of testing and the benefits and risks should always be highlighted.

The price of genetic testing varies according to the tests involved and the provider of the test. For example, in the USA the price of testing can be anything from $100 to more than $2000. In the UK certain tests are available on the NHS and therefore free of charge. This includes newborn screening tests, cancer genetic testing and genetic testing for other inherited disorders. DNA tests to determine paternity are not currently available on the NHS and the price varies according to the clinic you choose.

Private testing carries a fee and this will increase if more than one family member is being tested. The cost will depend on a number of factors including the type of test and the clinic you visit. It is always beneficial to get a full written quote beforehand if you do choose a private clinic.

It can take several weeks for the results of the test to become available. Your genetic counsellor or doctor can give you an idea of the expected timeframe and they will be on hand to assist after the results are disclosed.

This is a term used to describe when an individual is discriminated against based on the fact that they have a genetic condition or a genetic mutation which increases their danger of developing a specific medical condition. Genetic discrimination can occur in the workplace and some people have suffered this at the hands of insurance providers.

The outcome of genetic testing is usually included in an individual's medical history and will be visible to health insurance companies and potentially employers. This means that it is possible for people who have genetic conditions to experience genetic discrimination. Insurance providers look at medical records when people apply for medical and life insurance, and information about genetic testing may affect the price and type of insurance policy available to the client. Genetic testing is voluntary and people should be aware of the possible implications before they agree to go ahead.

Discrimination of any kind is illegal and if you think you are being discriminated against you should seek advice or talk to your employer.

Health insurance policies often cover the cost of genetic testing in instances when it is advised by a doctor. However, this is not always the case and it is best to check with your insurance provider beforehand.

Some people may prefer to cover the cost of genetic testing because the outcome may affect the cost of health insurance.

In the UK many people do not have health insurance because the NHS offers a comprehensive range of treatments and services. If a doctor recommends genetic testing the cost will be covered by the NHS and there are few exceptions.

It is often recommended by doctors and once an individual has decided to undergo testing the genetic counsellor or doctor will order the tests.

Genetic testing can be carried out on samples of blood, hair, skin or amniotic fluid which surrounds a foetus in the womb. Other types of tissue such as a swab used on the inside of the cheek can also be analysed. The sample will be delivered to a laboratory to be analysed under a microscope by highly trained technician. They look for the presence of specific genes or mutations and will then send a written report detailing the findings to the patient's doctor or geneticist.

Screening tests for newborn babies are done by taking a small sample of the baby's blood. The sample is collected by pricking the heel. If the result is positive further tests will usually be ordered. Unlike most other genetic tests parents are typically only given the result if it is positive.

Doctors and genetic counsellors have a responsibility to explain the testing process and answer any questions a patient has before they begin the process. It is also important to outline the advantages and disadvantages of testing. Patients must consent to testing and it is imperative that they have the relevant information to make an informed decision (informed consent).

The results of genetic testing are not simple and it can be complex to interpret and explain them. It is common for patients to have a lot of questions and they must be allowed to discuss the results with their doctor or genetic counsellor. It is vital for doctors and genetic counsellors to take factors such as the individual's medical history and family history into account when they are interpreting the test results.

If the test result is positive this indicates that laboratory technicians detected a change in the chromosomes or genes or found an abnormality or genetic mutation. The test result can be used to rule out or confirm a diagnosis, determine the risk of an individual developing a certain medical condition and determine if the individual is a carrier of a condition, which can imply a risk of passing the disorder onto future generations.

Families have similar genetic information (DNA) and this means that a positive result can have implications for different members of the same family. If you have a relative whom receives a positive genetic test result you may be advised to undergo testing.

It is essential to be aware of genetic testing limitations. In a predictive genetic test it is not usually possible to determine the precise risk of a person developing a medical condition. It is also not usually possible for doctors to use the result of the tests to determine the severity of the condition.

If the test result is negative this means that the technicians did not notice any abnormalities, mutations or changes in the chromosomes and genes. A negative result may indicate that an individual does not have a genetic condition, is not a carrier of a specific condition or they do not have an increased risk. However, a negative result is not always conclusive as it is not possible for tests to identify all genetic changes linked with a specific condition. For this reason additional testing may be necessary.

A negative result may not be useful and this is known as indeterminate, inconclusive, uninformative or ambiguous. Uninformative results may result from polymorphisms (small variations in the DNA) which affect everyone. It can be difficult to decipher a natural polymorphism and a mutation which causes a condition. Inconclusive results cannot rule out or confirm a diagnosis and testing other family members may be useful.

Physical risks of genetic testing are minimal, especially for tests that require a blood sample or a swab. Antenatal testing carries a small risk of miscarriage because the test involves taking a sample of the amniotic fluid surrounding the foetus. It is important for parents to be aware of the risks before they agree to have the test.

Additional risks linked to genetic testing include social, financial and emotional risks. The outcome of the test can have far-reaching implications for both the individual and their family members, and it is important that the individual is aware of all the risks associated with genetic testing, as to be prepared for the result.

Genetic testing is useful but it does have limitations. It is not possible for tests to provide all the necessary information about a person's condition; for example, what symptoms they will experience or how severe the condition will be.

Doctors and geneticists will be able to explain the limitations and risks of genetic testing. It is important that people are well-informed before they make a decision on whether or not to undergo genetic testing.

There are many types of genetic tests, including:

See more here:
Genetic Testing - Benefits, costs, and risks of genetic testing

Personalized Cancer Care

UC San Diego Healthnow uses genetic testing to analyze tumors and tailor cancer treatments to individual patients.

See Center for Personalized Cancer Therapy.

Genetic counseling can help you to assess your risk of cancer based on your personal and family medical history. It also helps you determine whether genetic testing is appropriate for yourself or other family members.

We work closely withphysicians and other medical professionals to provide patients with the latestinformation about inherited cancer risks, available genetic testing, and options for individuals known to be at a high risk of developing cancer due to genetic predisposition. Our services include:

We constructa family treeto identify patterns that suggest the presence of an inherited susceptibility to cancer in family members.This includesdetermining whetherany cancer patternfits with a known hereditary cancer syndrome.

We assess a patients personal risk of developing cancer, andidentify appropriate genetic testing options. Read more about the risk assessment process or whether you're at risk for inherited cancer.

Geneticcounselingincludes discussions about issues related to the future risk of developing cancer, the impact of genetic test results on cancer surveillance and prevention strategies, the emotional impact of genetic information on the patient and other family members, and concerns about genetic privacy. Read more about genetic testing and counseling.

We'll assist youindeveloping optimal strategies for the management of cancer risks based on the family history assessment and/or genetic test results..

For more information or to make an appointment:

Phone: 858-822-3240

If you're seeking prenatal or non-cancer genetic testing, please see Medical Genetics.

Originally posted here:
Family Cancer Genetics Program at UC San Diego Moores ...

Frequently Asked Questions About Genetic Testing What is genetic testing?

Genetic testing uses laboratory methods to look at your genes, which are the DNA instructions you inherit from your mother and your father. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

There are many different types of genetic tests. Genetic tests can help to:

Genetic test results can be hard to understand, however specialists like geneticists and genetic counselors can help explain what results might mean to you and your family. Because genetic testing tells you information about your DNA, which is shared with other family members, sometimes a genetic test result may have implications for blood relatives of the person who had testing.

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Diagnostic testing is used to precisely identify the disease that is making a person ill. The results of a diagnostic test may help you make choices about how to treat or manage your health.

Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a person's likelihood of developing diseases. The results of these tests provide you with information about your risk of developing a specific disease. Such information may be useful in decisions about your lifestyle and healthcare.

Carrier testing is used to find people who "carry" a change in a gene that is linked to disease. Carriers may show no signs of the disease; however, they have the ability to pass on the gene change to their children, who may develop the disease or become carriers themselves. Some diseases require a gene change to be inherited from both parents for the disease to occur. This type of testing usually is offered to people who have a family history of a specific inherited disease or who belong to certain ethnic groups that have a higher risk of specific inherited diseases.

Prenatal testing is offered during pregnancy to help identify fetuses that have certain diseases.

Newborn screening is used to test babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.

Pharmacogenomic testing gives information about how certain medicines are processed by an individual's body. This type of testing can help your healthcare provider choose the medicines that work best with your genetic makeup.

Research genetic testing is used to learn more about the contributions of genes to health and to disease. Sometimes the results may not be directly helpful to participants, but they may benefit others by helping researchers expand their understanding of the human body, health, and disease.

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Benefits: Genetic testing may be beneficial whether the test identifies a mutation or not. For some people, test results serve as a relief, eliminating some of the uncertainty surrounding their health. These results may also help doctors make recommendations for treatment or monitoring, and give people more information for making decisions about their and their family's health, allowing them to take steps to lower his/her chance of developing a disease. For example, as the result of such a finding, someone could be screened earlier and more frequently for the disease and/or could make changes to health habits like diet and exercise. Such a genetic test result can lower a person's feelings of uncertainty, and this information can also help people to make informed choices about their future, such as whether to have a baby.

Drawbacks: Genetic testing has a generally low risk of negatively impacting your physical health. However, it can be difficult financially or emotionally to find out your results.

Emotional: Learning that you or someone in your family has or is at risk for a disease can be scary. Some people can also feel guilty, angry, anxious, or depressed when they find out their results.

Financial: Genetic testing can cost anywhere from less than $100 to more than $2,000. Health insurance companies may cover part or all of the cost of testing.

Many people are worried about discrimination based on their genetic test results. In 2008, Congress enacted the Genetic Information Nondiscrimination Act (GINA) to protect people from discrimination by their health insurance provider or employer. GINA does not apply to long-term care, disability, or life insurance providers. (For more information about genetic discrimination and GINA, see http://www.genome.gov/10002328/genetic-discrimination-fact-sheet/).

Limitations of testing: Genetic testing cannot tell you everything about inherited diseases. For example, a positive result does not always mean you will develop a disease, and it is hard to predict how severe symptoms may be. Geneticists and genetic counselors can talk more specifically about what a particular test will or will not tell you, and can help you decide whether to undergo testing.

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There are many reasons that people might get genetic testing. Doctors might suggest a genetic test if patients or their families have certain patterns of disease. Genetic testing is voluntary and the decision about whether to have genetic testing is complex.

A geneticist or genetic counselor can help families think about the benefits and limitations of a particular genetic test. Genetic counselors help individuals and families understand the scientific, emotional, and ethical factors surrounding the decision to have genetic testing and how to deal with the results of those tests. (See: Frequently Asked Questions about Genetic Counseling)

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Talking Glossary of Genetic Terms

Genetic Testing From Genetics Home Reference: the benefits, costs, risks and limitations of genetic testing.

Genetic Testing Registry [ncbi.nlm.nih.gov] A publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers.

Prenatal Screening [marchofdimes.com] Provides prenatal testing information, including ultrasound, amniocentesis and chorionic villus sampling (CVS).

National Newborn Screening & Genetics Resource Center [genes-r-us.uthscsa.edu] Provides information and resources in the area of newborn screening and genetics.

Genetic Alliance- Genes in Life [genesinlife.org] A guide from the Genetic Alliance with easy-to-read information about genetic testing.

Genetics and Cancer [cancer.gov] An information fact sheet from the National Cancer Institute about genetic testing for hereditary cancers.

Find a Genetic Counselor [nsgc.org] A search engine developed by the National Society of Genetic Counselors.

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Last Updated: August 27, 2015

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genome.gov - FAQ About Genetic Testing

Cancer is a condition triggered by mutations (changes) in the genes of a cell that result in uncontrolled, abnormal cell growth. Some families have gene mutations that are passed down from one generation to the next.

Genetic testing may help you determine if your cancer was due to an inherited gene mutation and if you are at an increased risk of developing a second cancer.

During your initial evaluation period at Cancer Treatment Centers of America (CTCA), you will fill out a family history questionnaire, which includes questions regarding your personal and family history of cancer. This information will help determine if you are a candidate for genetic testing.

The following are some red flags for a hereditary cancer predisposition:

Genetic testing consists of a mouthwash or blood test. Analysis of the sample can determine if you inherited a gene mutation that contributed to your diagnosis of cancer. Genetic testing might also help determine if you are at greater risk of developing the same cancer again or of developing another type of cancer.

Genetic testing can help you make informed decisions about how to manage future risks of cancer. For example, if it is determined that you are at greater risk than the average patient for breast cancer recurrence, we may recommend adding breast MRIs to your routine screenings.

Also, if you are a woman who has breast cancer and you find out that you have an inherited risk, you may be at an increased risk for developing ovarian cancer. We will present you with options to reduce that risk.

The test results can help your CTCA doctor develop a plan of care individualized just for you. Test results can also be of great value to family members. Before and after genetic testing, you may have a genetic counseling session.

Read about genomic tumor assessment at CTCA.

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Genetic Testing - Cancer Treatment | CTCA

Advances in genetics have the potential to revolutionize how physicians diagnose and treat illness. But while the ability to repair defective genes remains far in the future, genetic testing can help patients determine the likelihood of passing on or inheriting certain disorders today. Genetic testing usually refers to the analysis of DNA to identify changes ingene sequence (deletions, additions, or misspellings) or expression levels.Genetic testing can also refer to biochemical tests for gene products (proteins) and for microscopic analysis of stained chromosomes. Genetic testing still is in its early stages, so both patients and experienced physicians may need guidance when it comes to navigating this new and complex territory.

How is genetic testing used clinically? Diagnostic medicine: identify whether an individual has a certain genetic disease. This type of test commonly detects a specific genealteration butis often not able to determine disease severity or age of onset. It is estimated that there are >4000 diseases caused by a mutation in a single gene. Examples of diseases that can be diagnosed by genetic testing includes cystic fibrosis andHuntington's disease.

Predictive medicine: determine whether an individualhas an increased risk for a particular disease. Results from this type of test are usually expressed in terms of probability and are therefore less definitive since disease susceptibility may also be influenced by other genetic and nongenetic (e.g. environmental, lifestyle) factors. Examples of diseases that use genetic testing to identify individuals with increased risk include certain forms of breast cancer (BRCA) andcolorectal cancer.

Pharmacogenomics:classifies subtle variations in an individual's genetic makeup todeterminewhether a drug is suitable for a particular patient, and if so, what would be the safest and most effective dose. Learnmore aboutpharmacogenomics.

Whole-genome and whole-exome sequencing: examines the entire genome or exome to discover genetic alterations that may be the cause of disease. Currently, this type of test is most often used in complex diagnostic cases, but it is being explored for use in asymptomatic individuals to predict future disease. Read more in this article.

How many different types of genetic tests are currently available? There are >2000genetic tests available to physicians to aid in the diagnosis and therapy for >1000 different diseases. Genetic testing is performed for the following reasons:

What are geneticcounselors? Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. They are an integral part of the healthcare team providing information and support to individuals and families who have members with birth defects, genetic disorders, or may be at risk for a variety of inherited disorders. Genetic counselors also serve as educators and a resource for other healthcare professionals and for the general public.

Additional resources

NIH Genetic Testing Registry

National Cancer Institute - Understanding Cancer Series: Gene Testing

US Department of Health and Human Services - Understanding Gene Testing

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Genetic Testing - American Medical Association

In recent years, much energy has been put into genetic research both through the individual efforts of interested scientists and through the collaboration of international teams in the Human Genome Project. Through this work, we have learned a great deal about how genes function and how they can cause certain problems. We now know how to look for mutations (changes in the gene) that can lead to specific disorders. Genetic testing is possible for some conditions because we can recognize the difference between a normal gene and a disease gene.

Genetic testing presents us with both opportunity and concern. There is opportunity for diagnoses and definitive information and, indeed, a hope that cures may ultimately be possible. On the other hand, we have seen that genetic information can have far-reaching effects on individuals being tested and on their familiesemotionally, socially, ethically.

Genes are specific pieces of information that tell our bodies how to grow, function, and develop. It is estimated that each person has between 50,000-100,000 genes. These genes, which are contained on our 23 pairs of chromosomes, make up our genetic blueprint. Each gene codes for a particular set of instructions, and a genes function is determined by its unique DNA code. DNA consists of four basic building blocks called bases that are linked in a specific order. When a change occurs in the ordering or number of bases, a gene may not function properly. A gene change which can cause a disease is called a mutation.

Genes come in pairs, with one copy inherited from each parent. A condition is called dominantly inherited when only one copy of a disease gene is needed to lead to symptoms of that disease. One example of dominant inheritance is Huntingtons Disease (HD). The HD gene can be passed from one generation to the next and a person who has the HD gene has a 50% chance of passing that gene on to each of his or her children. A person affected by a recessively inherited condition inherits a particular disease gene from each parent. One example is cystic fibrosis in which both parents, by chance, have passed on a CF gene.

Some diseases do not follow simple patterns of inheritance. Many factors influence how a gene works or who will get a disease and when. Mutations in several different genes can lead to the same disease, as we see in some forms of Alzheimers disease. Genes that increase ones risk of getting a certain disease are called susceptibility genes.

Genetic testing involves analyzing a persons DNA. Usually a blood sample is taken, and a molecular genetics lab performs special tests to look for mutations in a gene that lead to disease. Genetic testing is available for only a fraction of the many genetic conditions in existence. There is no test that analyzes a persons DNA and gives him or her a clean bill of health.

Genetic testing can be done to confirm or rule out a certain diagnosis. Testing might interest a person who knows or suspects that he/she is at risk for a genetic disease for which treatment options or preventative measures are available. Also, couples considering having children may wish to know the risk of passing on an inherited disorder (e.g., Huntingtons disease) to offspring.

Some of the more common genetic diseases for which genetic tests are available include sickle cell disease, myotonic dystrophy, cystic fibrosis, Duchennes muscular dystrophy, and Fragile X syndrome.

There are also tests available for some inherited adult-onset disorders, including those described below:

At this time, routine predictive testing of Alzheimers disease genes is not recommended. The APOE4 gene is only a risk factor and it cannot provide definitive information. Since there is no cure for Alzheimers disease, the benefit of learning about a possible predisposition to the disease is questionable.

ALS is inherited in aproximately 10% of cases in an autosomal dominant or autosomal recessive manner. Familial ALS (FALS) has been studied closely to determine that in some families, a mutation in a gene called SOD1 (on chromosome 21) is likely the cause. The vast majority of ALS cases are sporadic with no clear cause. The hope now is that the discovery of a gene causing a disease in certain families may give scientists the lead they have been searching for to reach a cure.

Ataxia Ataxia means a lack of coordination and can be associated with a degenerative disorder. Testing is currently available for spinocerebellar ataxia (SCA) Types1, 2 and 3. Type3 is also known as Machado-Joseph disease. Dementia is not typically seen in SCA Types1, 2 and 3. They are inherited in an autosomal dominant manner, meaning that either men or women can be affected and that an affected person has a 50% chance of passing the gene on to each of his/her children. The genes for SCA Types1, 2 and 3, like the HD gene, have repeated sections of DNA that are larger than those in the normally functioning gene.

Cerebrovascular Disease (Stroke) Scientists studying cerebrovascular disease have suggested that many risk factors for stroke are under genetic influence, for example, having a family history of stroke may be associated with an increased risk. Greater understanding of these factors may lead to early recognition of and intervention in stroke. Genetic effects are subject to environmental influences (e.g., diet, weight).

A person with symptoms of Huntingtons disease may have a genetic test to confirm that he/she has HD. People at risk for HD (meaning that one of their parents has HD) may consider presymptomatic testing to learn if they carry the HD gene and therefore will ultimately develop HD symptoms.

After many years of intense research, the HD gene was identified in 1993. It was discovered that a three base pair section of the DNA of the HD gene is repeated many times in individuals who have HD. The normal functional gene does not have this enlargement. Current testing analyzes the HD gene to look for the presence or absence of this enlargement (or expanded repeat). At this time, the function of the HD gene and how it causes HD is not known.

Multiple Sclerosis (MS) Multiple sclerosis is a disease that randomly attacks the central nervous system. Familial occurrence (not necessarily genetic) in MS is documented, but uncommon. It is thought that the major causes for MS will prove to be immunological and possibly infectious, but certain genes may be required for susceptibility.

Although there are no cures for these adult-onset disorders, genetic testing for actual gene mutations can provide an accurate diagnosis or rule out a specific condition. Having a clear diagnosis can allow a person and his/her family to anticipate disease progression and make informed decisions about the future. In some cases, treatment options may be available to slow the progression of symptoms.

Persons at risk (e.g., a person with a parent with Huntingtons disease) might feel uncertain about their own future and that of their children. A negative test (indicating that a person does not have the gene) can give a tremendous sense of relief. A positive test result can relieve uncertainty and let the person plan for the future.

There are not tests available for every adult-onset disorder. One important limitation for gene testing is that diagnostic information often is not matched by effective treatment strategies or therapies.

Since most genetic tests involve only a blood sample, there is no significant physical risk. Any potential risks have more to do with the way the results of the test might change a persons life.

There can be a major psychological impact on people considering and undergoing genetic testing. The knowledge that one does or does not carry a disease gene can provoke many emotions. Many people with a family history of certain diseases have already seen relatives become affected by the disorder. The news that they have the disease gene can lead to depression or anger. These emotions can impact the person and reverberate throughout the family. A person who finds he/she does not carry a disease gene may feel guilty.

There is also concern about confidentiality. People have expressed concern that testing information could someday be used against them.

As knowledge about the genetic basis of common disorders grows, so does the potential for discrimination in obtaining health or life insurance. People also have concerns about discrimination in employment.

At the state and federal levels, legislation is being pursued to help ensure that genetic information is not used against people. The Americans with Disabilities Act (ADA) provides employment anti-discrimination protection for people with disabilities and neurological disorders. In addition, as an example of state law, the State of California prohibits insurers, to varying degrees, from requiring or requesting genetic tests or their results, from denying coverage on the basis of genetic tests, and from using tests to determine rates and benefits. California law has provisions to protect the privacy of genetic information. However, in this time of flux and changing health care systems, it is not clear to what extent consumers are protected. People considering genetic testing need to consider potential risks for discrimination.

Your primary care physician may be able to make a referral to a specialist such as a neurologist and genetic counselor as appropriate. The National Society of Genetic Counselors may also be a helpful source of referrals. A trained professional can help evaluate family history, document diagnosis and discuss whether testing options are available. In addition, in California there is a Genetically Handicapped Persons Program (see Resources section of this fact sheet).

Genetic counselors are specially trained health professionals who help families learn about and cope with genetic conditions. If a person is considering testing, a genetic counselor would discuss risks, benefits, and limitations and provide balanced information for the individual to make an informed decision about whether to proceed with testing. There are many issues to consider including psychological impact, family issues, and privacy. Genetic counseling can be helpful in addressing these issues. Genetic counselors support families and individuals in making decisions about genetic testing and in adjusting to test results.

The decision about whether to have testing is a very personal one. It should also be voluntary; people should have the test only if they want the information and should not be pressured into testing by relatives or health care providers.

Because the issues are so complex and the consequences so profound, the decision to have a genetic test deserves careful preparation and thought.

As a final note, it is also important to understand that the available information is changing rapidly as genetic research continues. It is likely that more information and genetic tests will be available in the future. Please use the Resource listings below to help stay informed and up to date.

Family Caregiver Alliance 785 Market Street, Suite 750 San Francisco, CA 94103 (415) 434-3388 (800) 445-8106 Web Site: caregiver.org E-mail: [emailprotected]

Family Caregiver Alliance (FCA) seeks to improve the quality of life for caregivers through education, services, research and advocacy.

Through its National Center on Caregiving, FCA offers information on current social, public policy and caregiving issues and provides assistance in the development of public and private programs for caregivers.

For residents of the greater San Francisco Bay Area, FCA provides direct family support services for caregivers of those with Alzheimer's disease, stroke, head injury, Parkinson's and other debilitating disorders that strike adults.

Huntingtons Disease Society of America 140 West 22nd St., 6th Flr. New York, NY 10011-2420 (212) 242-1968 (800) 345-HDSA HDSA maintains a list of genetic testing centers across the U.S.

Genetically Handicapped Persons Program State of California Department of Health Services 714 P St., Rm. 300 Sacramento, CA 95814 (916) 654-0503 (800) 639-0957

Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-4363 (301) 652-5553

National Alliance for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812 (800) 999-6673 (203) 746-6518

National Society of Genetic Counselors 233 Canterbury Dr. Wallingford, PA 19086-6617 (610) 872-7608

Human Genome Management Information System Oak Ridge National Lab 1060 Commerce Park MS 6480 Oak Ridge, TN 37830 (423) 576-6669

Publishes a Primer on Molecular Genetics.

Prepared by Ann Bourguignon, M.S., Genetic Counselor, Kaiser Permanente, Oakland, California, for Family Caregiver Alliance and California's Caregiver Resource Centers, a statewide system of resource centers serving families and caregivers of brain-impaired adults. Funded by the California Department of Mental Health. Printed October 1997. All rights reserved.

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Genetic Testing | Family Caregiver Alliance

There are hundreds of diseases that are related to changes in our genetic code, but most of them are extremely rare. or alterations in specific may prevent the genes from creating vital or cause alterations in the proteins that they produce. These changes can affect the way that the body functions and cause specific diseases. Some of the disease-related gene mutations are , while others are . Some are or sex-linked, associated with the X or Y that determines our sex, and are found only in males. Some mutations have arisen and been passed down in specific families, and some are more prevalent in individuals of certain ethnic descent.

Genetic testing is a personal choice. Blood tests for some of the more common genetic diseases may be performed on a woman and her partner before a pregnancy if they wish to know if they are . Many times, genetic testing is done first on the woman and only done on the partner if the woman is a carrier. Couples should talk to a genetic counselor about their ethnicity and family medical history to determine which tests are the most appropriate and to help them make an informed decision. For more information on genetics and genetic testing, see The Universe of Genetic Testing.

Individuals of Ashkinazi (East European) Jewish descent, for example, are at increased risk of carrying the genes for Tay-Sachs, Gaucher, Canavan disease, and familial dysautonomia. These genetic diseases can occur when both parents have an abnormal gene and their child inherits two copies of the abnormal gene, one from each parent. In both Tay-Sachs and Canavan diseases, there is a buildup of a substance in the childs brain that prevents normal development. There is no known cure for either disease. Children with Tay-Sachs rarely live past five years of age; children with Canavan disease may live to early adolescence. There are three types of Gaucher disease, each causing too much fatty substance to be stored in the bone marrow, spleen, and liver. Although one type of Gaucher disease is fatal, the most common type is not. Treatments are available for individuals with Gaucher disease. Familial dysautonomia is caused by incomplete development of nerve fibers in the autonomic and sensory nervous systems. There are a variety of symptoms (which range in severity), the most noticeable of which is the lack of tears during crying.

Links National Human Genome Research Institute: FAQ About Genetic Testing March of Dimes: Tay-Sachs and Sandhoff diseases Genetic and Rare Diseases Information Center

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Pregnancy & Prenatal Testing: Genetic Testing for Inherited ...

Frequently Asked Questions About Genetic Testing What is genetic testing?

Genetic testing uses laboratory methods to look at your genes, which are the DNA instructions you inherit from your mother and your father. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

There are many different types of genetic tests. Genetic tests can help to:

Genetic test results can be hard to understand, however specialists like geneticists and genetic counselors can help explain what results might mean to you and your family. Because genetic testing tells you information about your DNA, which is shared with other family members, sometimes a genetic test result may have implications for blood relatives of the person who had testing.

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Diagnostic testing is used to precisely identify the disease that is making a person ill. The results of a diagnostic test may help you make choices about how to treat or manage your health.

Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a person's likelihood of developing diseases. The results of these tests provide you with information about your risk of developing a specific disease. Such information may be useful in decisions about your lifestyle and healthcare.

Carrier testing is used to find people who "carry" a change in a gene that is linked to disease. Carriers may show no signs of the disease; however, they have the ability to pass on the gene change to their children, who may develop the disease or become carriers themselves. Some diseases require a gene change to be inherited from both parents for the disease to occur. This type of testing usually is offered to people who have a family history of a specific inherited disease or who belong to certain ethnic groups that have a higher risk of specific inherited diseases.

Prenatal testing is offered during pregnancy to help identify fetuses that have certain diseases.

Newborn screening is used to test babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.

Pharmacogenomic testing gives information about how certain medicines are processed by an individual's body. This type of testing can help your healthcare provider choose the medicines that work best with your genetic makeup.

Research genetic testing is used to learn more about the contributions of genes to health and to disease. Sometimes the results may not be directly helpful to participants, but they may benefit others by helping researchers expand their understanding of the human body, health, and disease.

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Benefits: Genetic testing may be beneficial whether the test identifies a mutation or not. For some people, test results serve as a relief, eliminating some of the uncertainty surrounding their health. These results may also help doctors make recommendations for treatment or monitoring, and give people more information for making decisions about their and their family's health, allowing them to take steps to lower his/her chance of developing a disease. For example, as the result of such a finding, someone could be screened earlier and more frequently for the disease and/or could make changes to health habits like diet and exercise. Such a genetic test result can lower a person's feelings of uncertainty, and this information can also help people to make informed choices about their future, such as whether to have a baby.

Drawbacks: Genetic testing has a generally low risk of negatively impacting your physical health. However, it can be difficult financially or emotionally to find out your results.

Emotional: Learning that you or someone in your family has or is at risk for a disease can be scary. Some people can also feel guilty, angry, anxious, or depressed when they find out their results.

Financial: Genetic testing can cost anywhere from less than $100 to more than $2,000. Health insurance companies may cover part or all of the cost of testing.

Many people are worried about discrimination based on their genetic test results. In 2008, Congress enacted the Genetic Information Nondiscrimination Act (GINA) to protect people from discrimination by their health insurance provider or employer. GINA does not apply to long-term care, disability, or life insurance providers. (For more information about genetic discrimination and GINA, see http://www.genome.gov/10002328/Genetic-Discrimination-Fact-Sheet).

Limitations of testing: Genetic testing cannot tell you everything about inherited diseases. For example, a positive result does not always mean you will develop a disease, and it is hard to predict how severe symptoms may be. Geneticists and genetic counselors can talk more specifically about what a particular test will or will not tell you, and can help you decide whether to undergo testing.

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There are many reasons that people might get genetic testing. Doctors might suggest a genetic test if patients or their families have certain patterns of disease. Genetic testing is voluntary and the decision about whether to have genetic testing is complex.

A geneticist or genetic counselor can help families think about the benefits and limitations of a particular genetic test. Genetic counselors help individuals and families understand the scientific, emotional, and ethical factors surrounding the decision to have genetic testing and how to deal with the results of those tests. (See: Frequently Asked Questions about Genetic Counseling)

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Talking Glossary of Genetic Terms

Genetic Testing From Genetics Home Reference: the benefits, costs, risks and limitations of genetic testing.

Genetic Testing Registry [ncbi.nlm.nih.gov] A publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers.

Prenatal Screening [marchofdimes.com] Provides prenatal testing information, including ultrasound, amniocentesis and chorionic villus sampling (CVS).

National Newborn Screening & Genetics Resource Center [genes-r-us.uthscsa.edu] Provides information and resources in the area of newborn screening and genetics.

Genetic Alliance- Genes in Life [genesinlife.org] A guide from the Genetic Alliance with easy-to-read information about genetic testing.

Genetics and Cancer [cancer.gov] An information fact sheet from the National Cancer Institute about genetic testing for hereditary cancers.

Find a Genetic Counselor [nsgc.org] A search engine developed by the National Society of Genetic Counselors.

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Last Updated: August 27, 2015

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Frequently Asked Questions About Genetic Testing - Genome.gov

Many people decide to learn whether or not they have an abnormal gene that is linked to higher breast cancer risk. Three of the most well-known abnormal genes are BRCA1, BRCA2, and PALB2. Women who inherit a mutation, or abnormal change, in any of these genes from their mothers or their fathers have a much higher-than-average risk of developing breast cancer and ovarian cancer. Men with these mutations have an increased risk of breast cancer, especially if the BRCA2 gene is affected, and possibly of prostate cancer. Many inherited cases of breast cancer have been associated with these three genes.

The function of the BRCA and PALB2 genes is to keep breast cells growing normally and prevent any cancer cell growth. But when these genes contain the mutations that are passed from generation to generation, they do not function normally and breast cancer risk increases. Abnormal BRCA1, BRCA2, and PALB2 genes may account for up to 10% of all breast cancers, or 1 out of every 10 cases.

Remember that most people who develop breast cancer have no family history of the disease. However, when a strong family history of breast and/or ovarian cancer is present, there may be reason to believe that a person has inherited an abnormal gene linked to higher breast cancer. Some people choose to undergo genetic testing to find out. A genetic test involves giving a blood sample that can be analyzed to pick up any abnormalities in these genes.

In this section, you can read more about the following topics related to genetic testing:

If you want to learn more about family-related risk and genetics, you can visit the Lower Your Risk section of this site.

Researchers have discovered, and are continuing to discover, other abnormal genes that are less common than BRCA1, BRCA2, and PALB2 but also can raise breast cancer risk. Testing for these abnormalities is not done routinely, but it may be considered on the basis of your family history and personal situation. You can work with your doctor to decide whether testing for gene abnormalities besides BRCA1, BRCA2, and PALB2 is warranted.

To connect with others who have tested positive for a BRCA1 or BRCA2 gene abnormality, visit the Breastcancer.org Discussion Board forum BRCA1 or BRCA2 Positive.

The medical experts for Genetic Testing are:

These experts are members of the Breastcancer.org Professional Advisory Board, which includes more than 60 medical experts in breast cancer-related fields.

"Simply having a proven gene abnormality does not necessarily mean that a woman will develop breast cancer, or that her cancer will be any worse than cancer that does not stem from an inherited genetic flaw."

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Genetic Testing - Breastcancer.org - Breast Cancer ...

What are BRCA1 and BRCA2?

BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cells genetic material. When either of these genes is mutated, or altered, such that its protein product either is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.

Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers (1) and about 5 to 10 percent of all breast cancers (2). In addition, mutations in BRCA1 and BRCA2 account for around 15 percent of ovarian cancers overall (3). Breast and ovarian cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than their nonhereditary counterparts.

A harmful BRCA1 or BRCA2 mutation can be inherited from a persons mother or father. Each child of a parent who carries a mutation in one of these genes has a 50 percent chance (or 1 chance in 2) of inheriting the mutation. The effects of mutations in BRCA1 and BRCA2 are seen even when a persons second copy of the gene is normal.

How much does having a BRCA1 or BRCA2 gene mutation increase a womans risk of breast and ovarian cancer?

A womans lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2.

Breast cancer: About 12 percent of women in the general population will develop breast cancer sometime during their lives (4). By contrast, according to the most recent estimates, 55 to 65 percent of women who inherit a harmful BRCA1 mutation and around 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70 years (5, 6).

Ovarian cancer: About 1.3 percent of women in the general population will develop ovarian cancer sometime during their lives (4). By contrast, according to the most recent estimates, 39 percent of women who inherit a harmful BRCA1 mutation (5, 6) and 11 to 17 percent of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70 years (5, 6).

It is important to note that these estimated percentages of lifetime risk are different from those available previously; the estimates have changed as more information has become available, and they may change again with additional research. No long-term general population studies have directly compared cancer risk in women who have and do not have a harmful BRCA1 or BRCA2 mutation.

It is also important to note that other characteristics of a particular woman can make her cancer risk higher or lower than the average risks. These characteristics include her family history ofbreast, ovarian, and, possibly, other cancers; the specific mutation(s) she has inherited; and other risk factors, suchas her reproductivehistory. However, at this time, based on current data, none of these other factors seems to be as strong as the effect of carrying a harmful BRCA1 or BRCA2 mutation.

What other cancers have been linked to mutations in BRCA1 and BRCA2?

Are mutations in BRCA1 and BRCA2 more common in certain racial/ethnic populations than others?

Yes. For example, people of Ashkenazi Jewish descent have a higher prevalence of harmful BRCA1 and BRCA2 mutations than people in the general U.S. population. Other ethnic and geographic populations around the world, such as the Norwegian, Dutch, and Icelandic peoples, also have a higher prevalence of specific harmful BRCA1 and BRCA2 mutations.

In addition, limited data indicate that the prevalence of specific harmful BRCA1 and BRCA2 mutations may vary among individual racial and ethnic groups in the United States, including African Americans, Hispanics, Asian Americans, and non-Hispanic whites (15, 16).

Are genetic tests available to detect BRCA1 and BRCA2 mutations?

Yes. Several different tests are available, including tests that look for a known mutation in one of the genes (i.e., a mutation that has already been identified in another family member) and tests that check for all possible mutations in both genes. DNA (from a blood or saliva sample) is needed for mutation testing. The sample is sent to a laboratory for analysis. It usually takes about a month to get the test results.

Who should consider genetic testing for BRCA1 and BRCA2 mutations?

Because harmful BRCA1 and BRCA2 gene mutations are relatively rare in the general population, most experts agree that mutation testing of individuals who do not have cancer should be performed only when the persons individual or family history suggests the possible presence of a harmful mutation in BRCA1 or BRCA2.

In December 2013, the United States Preventive Services Task Force recommended that women who have family members with breast, ovarian, fallopian tube, or peritoneal cancer be evaluated to see if they have a family history that is associated with an increased risk of a harmful mutation in one of these genes (17).

Several screening tools are now available to help health care providers with this evaluation (17). These tools assess family history factors that are associated with an increased likelihood of having a harmful mutation in BRCA1 or BRCA2, including:

When an individual has a family history that is suggestive of the presence of a BRCA1 or BRCA2 mutation, it may be most informative to first test a family member who has cancer if that person is still alive and willing to be tested. If that person is found to have a harmful BRCA1 or BRCA2 mutation, then other family members may want to consider genetic counseling to learn more about their potential risks and whether genetic testing for mutations in BRCA1 and BRCA2 might be appropriate for them.

If it is not possible to confirm the presence of a harmful BRCA1 or BRCA2 mutation in a family member who has cancer, it is appropriate for both men and women who do not have cancer but have a family medical history that suggests the presence of such a mutation to have genetic counseling for possible testing.

Some individualsfor example, those who were adopted at birthmay not know their family history. In cases where a woman with an unknown family history has an early-onset breast cancer or ovarian cancer or a man with an unknown family history is diagnosed with breast cancer, it may be reasonable for that individual to consider genetic testing for a BRCA1 or BRCA2 mutation. Individuals with an unknown family history who do not have an early-onset cancer or male breast cancer are at very low risk of having a harmful BRCA1 or BRCA2 mutation and are unlikely to benefit from routine genetic testing.

Professional societies do not recommend that children, even those with a family history suggestive of a harmful BRCA1 or BRCA2 mutation, undergo genetic testing for BRCA1 or BRCA2. This is because no risk-reduction strategies exist for children, and children's risks of developing a cancer type associated with a BRCA1 or BRCA2 mutation are extremely low. After children with a family history suggestive of a harmful BRCA1 or BRCA2 mutation become adults, however, they may want to obtain genetic counseling about whether or not to undergoing genetic testing.

Should people considering genetic testing for BRCA1 and BRCA2 mutations talk with a genetic counselor?

Genetic counseling is generally recommended before and after any genetic test for an inherited cancer syndrome. This counseling should be performed by a health care professional who is experienced in cancer genetics. Genetic counseling usually covers many aspects of the testing process, including:

How much does BRCA1 and BRCA2 mutation testing cost?

The Affordable Care Act considers genetic counseling and BRCA1 and BRCA2 mutation testing for individuals at high risk a covered preventive service. People considering BRCA1 and BRCA2 mutation testing may want to confirm their insurance coverage for genetic tests before having the test.

Some of the genetic testing companies that offer testing for BRCA1 and BRCA2 mutations may offer testing at no charge to patients who lack insurance and meet specific financial and medical criteria.

What does a positive BRCA1 or BRCA2 genetic test result mean?

BRCA1 and BRCA2 gene mutation testing can give several possible results: a positive result, a negative result, or an ambiguous or uncertain result.

A positive test result indicates that a person has inherited a known harmful mutation in BRCA1 or BRCA2 and, therefore, has an increased risk of developing certain cancers. However, a positive test result cannot tell whether or when an individual will actually develop cancer. For example, some women who inherit a harmful BRCA1 or BRCA2 mutation will never develop breast or ovarian cancer.

A positive genetic test result may also have important health and social implications for family members, including future generations. Unlike most other medical tests, genetic tests can reveal information not only about the person being tested but also about that persons relatives:

What does a negative BRCA1 or BRCA2 test result mean?

A negative test result can be more difficult to understand than a positive result because what the result means depends in part on an individuals family history of cancer and whether a BRCA1 or BRCA2 mutation has been identified in a blood relative.

If a close (first- or second-degree) relative of the tested person is known to carry a harmful BRCA1 or BRCA2 mutation, a negative test result is clear: it means that person does not carry the harmful mutation that is responsible for the familial cancer, and thus cannot pass it on to their children. Such a test result is called a true negative. A person with such a test result is currently thought to have the same risk of cancer as someone in the general population.

If the tested person has a family history that suggests the possibility of having a harmful mutation in BRCA1 or BRCA2 but complete gene testing identifies no such mutation in the family, a negative result is less clear. The likelihood that genetic testing will miss a known harmful BRCA1 or BRCA2 mutation is very low, but it could happen. Moreover, scientists continue to discover new BRCA1 and BRCA2 mutations and have not yet identified all potentially harmful ones. Therefore, it is possible that a person in this scenario with a "negative" test result actually has an as-yet unknown harmful BRCA1 or BRCA2 mutation that has not been identified.

It is also possible for people to have a mutation in a gene other than BRCA1 or BRCA2 that increases their cancer risk but is not detectable by the test used. People considering genetic testing for BRCA1 and BRCA2 mutations may want to discuss these potential uncertainties with a genetic counselor before undergoing testing.

What does an ambiguous or uncertain BRCA1 or BRCA2 test result mean?

Sometimes, a genetic test finds a change in BRCA1 or BRCA2 that has not been previously associated with cancer. This type of test result may be described as ambiguous (often referred to as a genetic variant of uncertain significance) because it isnt known whether this specific gene change affects a persons risk of developing cancer. One study found that 10 percent of women who underwent BRCA1 and BRCA2 mutation testing had this type of ambiguous result (18).

As more research is conducted and more people are tested for BRCA1 and BRCA2 mutations, scientists will learn more about these changes and cancer risk. Genetic counseling can help a person understand what an ambiguous change in BRCA1 or BRCA2 may mean in terms of cancer risk. Over time, additional studies of variants of uncertain significance may result in a specific mutation being re-classified as either harmful or clearly not harmful.

How can a person who has a positive test result manage their risk of cancer?

Several options are available for managing cancer risk in individuals who have a known harmful BRCA1 or BRCA2 mutation. These include enhanced screening, prophylactic (risk-reducing) surgery, and chemoprevention.

Enhanced Screening. Some women who test positive for BRCA1 and BRCA2 mutations may choose to start cancer screening at younger ages than the general population or to have more frequent screening. For example, some experts recommend that women who carry a harmful BRCA1 or BRCA2 mutation undergo clinical breast examinations beginning at age 25 to 35 years (19). And some expert groups recommend that women who carry such a mutation have a mammogram every year, beginning at age 25 to 35 years.

Enhanced screening may increase the chance of detecting breast cancer at an early stage, when it may have a better chance of being treated successfully. Women who have a positive test result should ask their health care provider about the possible harms of diagnostic tests that involve radiation (mammograms or x-rays).

Recent studies have shown that MRI may be more sensitive than mammography for women at high risk of breast cancer (20, 21). However, mammography can also identify some breast cancers that are not identified by MRI (22), and MRI may be less specific (i.e., lead to more false-positive results) than mammography. Several organizations, such as the American Cancer Society and the National Comprehensive Cancer Network, now recommend annual screening with mammography and MRI for women who have a high risk of breast cancer.

No effective ovarian cancer screening methods currently exist. Some groups recommend transvaginal ultrasound, blood tests for the antigen CA-125, and clinical examinations for ovarian cancer screening in women with harmful BRCA1 or BRCA2 mutations, but none of these methods appears to detect ovarian tumors at an early enough stage to reduce the risk of dying from ovarian cancer (23). For a screening method to be considered effective, it must have demonstrated reduced mortality from the disease of interest. This standard has not yet been met for ovarian cancer screening.

The benefits of screening for breast and other cancers in men who carry harmful mutations in BRCA1 or BRCA2 is also not known, but some expert groups recommend that men who are known to carry a harmful mutation undergo regular mammography as well as testing for prostate cancer. The value of these screening strategies remains unproven at present.

Prophylactic (Risk-reducing) Surgery. Prophylactic surgery involves removing as much of the "at-risk" tissue as possible. Women may choose to have both breasts removed (bilateral prophylactic mastectomy) to reduce their risk of breast cancer. Surgery to remove a woman's ovaries and fallopian tubes (bilateral prophylactic salpingo-oophorectomy) can help reduce her risk of ovarian cancer. Removing the ovaries also reduces the risk of breast cancer in premenopausal women by eliminating a source of hormones that can fuel the growth of some types of breast cancer.

No evidence is available regarding the effectiveness of bilateral prophylactic mastectomy in reducing breast cancer risk in men with a harmful BRCA1 or BRCA2 mutation or a family history of breast cancer. Therefore, bilateral prophylactic mastectomy for men at high risk of breast cancer is considered an experimental procedure, and insurance companies will not normally cover it.

Prophylactic surgery does not completely guarantee that cancer will not develop because not all at-risk tissue can be removed by these procedures. Some women have developed breast cancer, ovarian cancer, or primary peritoneal carcinomatosis (a type of cancer similar to ovarian cancer) even after prophylactic surgery. Nevertheless, the mortality reduction associated with this surgery is substantial: Research demonstrates that women who underwent bilateral prophylactic salpingo-oophorectomy had a nearly 80 percent reduction in risk of dying from ovarian cancer, a 56 percent reduction in risk of dying from breast cancer (24), and a 77 percent reduction in risk of dying from any cause (25).

Emerging evidence (25) suggests that the amount of protection that removing the ovaries and fallopian tubes provides against the development of breast and ovarian cancer may be similar for carriers of BRCA1 and BRCA2 mutations, in contrast to earlier studies (26).

Chemoprevention. Chemoprevention is the use of drugs, vitamins, or other agents to try to reduce the risk of, or delay the recurrence of, cancer. Although two chemopreventive drugs (tamoxifen and raloxifene) have been approved by the U.S. Food and Drug Administration (FDA) to reduce the risk of breast cancer in women at increased risk, the role of these drugs in women with harmful BRCA1 or BRCA2 mutations is not yet clear.

Data from three studies suggest that tamoxifen may be able to help lower the risk of breast cancer in BRCA1 and BRCA2 mutation carriers (27), including the risk of cancer in the opposite breast among women previously diagnosed with breast cancer (28, 29). Studies have not examined the effectiveness of raloxifene in BRCA1 and BRCA2 mutation carriers specifically.

Oral contraceptives (birth control pills) are thought to reduce the risk of ovarian cancer by about 50 percent both in the general population and in women with harmful BRCA1 or BRCA2 mutations (30).

What are some of the benefits of genetic testing for breast and ovarian cancer risk?

There can be benefits to genetic testing, regardless of whether a person receives a positive or a negative result.

The potential benefits of a true negative result include a sense of relief regarding the future risk of cancer, learning that one's children are not at risk of inheriting the family's cancer susceptibility, and the possibility that special checkups, tests, or preventive surgeries may not be needed.

A positive test result may bring relief by resolving uncertainty regarding future cancer risk and may allow people to make informed decisions about their future, including taking steps to reduce their cancer risk. In addition, people who have a positive test result may choose to participate in medical research that could, in the long run, help reduce deaths from hereditary breast and ovarian cancer.

What are some of the possible harms of genetic testing for breast and ovarian cancer risk?

The direct medical harms of genetic testing are minimal, but knowledge of test results may have harmful effects on a persons emotions, social relationships, finances, and medical choices.

People who receive a positive test result may feel anxious, depressed, or angry. They may have difficulty making choices about whether to have preventive surgery or about which surgery to have.

People who receive a negative test result may experience survivor guilt, caused by the knowledge that they likely do not have an increased risk of developing a disease that affects one or more loved ones.

Because genetic testing can reveal information about more than one family member, the emotions caused by test results can create tension within families. Test results can also affect personal life choices, such as decisions about career, marriage, and childbearing.

Violations of privacy and of the confidentiality of genetic test results are additional potential risks. However, the federal Health Insurance Portability and Accountability Act and various state laws protect the privacy of a persons genetic information. Moreover, the federal Genetic Information Nondiscrimination Act, along with many state laws, prohibits discrimination based on genetic information in relation to health insurance and employment, although it does not cover life insurance, disability insurance, or long-term care insurance.

Finally, there is a small chance that test results may not be accurate, leading people to make decisions based on incorrect information. Although inaccurate results are unlikely, people with these concerns should address them during genetic counseling.

What are the implications of having a harmful BRCA1 or BRCA2 mutation for breast and ovarian cancer prognosis and treatment?

A number of studies have investigated possible clinical differences between breast and ovarian cancers that are associated with harmful BRCA1 or BRCA2 mutations and cancers that are not associated with these mutations.

There is some evidence that, over the long term, women who carry these mutations are more likely to develop a second cancer in either the same (ipsilateral) breast or the opposite (contralateral) breast than women who do not carry these mutations. Thus, some women with a harmful BRCA1 or BRCA2 mutation who develop breast cancer in one breast opt for a bilateral mastectomy, even if they would otherwise be candidates for breast-conserving surgery. In fact, because of the increased risk of a second breast cancer among BRCA1 and BRCA2 mutation carriers, some doctors recommend that women with early-onset breast cancer and those whose family history is consistent with a mutation in one of these genes have genetic testing when breast cancer is diagnosed.

Breast cancers in women with a harmful BRCA1 mutation are also more likely to be "triple-negative cancers" (i.e., the breast cancer cells do not have estrogen receptors, progesterone receptors, or large amounts of HER2/neu protein), which generally have poorer prognosis than other breast cancers.

Because the products of the BRCA1 and BRCA2 genes are involved in DNA repair, some investigators have suggested that cancer cells with a harmful mutation in either of these genes may be more sensitive to anticancer agents that act by damaging DNA, such as cisplatin. In preclinical studies, drugs called PARP inhibitors, which block the repair of DNA damage, have been found to arrest the growth of cancer cells that have BRCA1 or BRCA2 mutations. These drugs have also shown some activity in cancer patients who carry BRCA1 or BRCA2 mutations, and researchers are continuing to develop and test these drugs.

What research is currently being done to help individuals with harmful BRCA1 or BRCA2 mutations?

Research studies are being conducted to find new and better ways of detecting, treating, and preventing cancer in people who carry mutations in BRCA1 and BRCA2. Additional studies are focused on improving genetic counseling methods and outcomes. Our knowledge in these areas is evolving rapidly.

Information about active clinical trials (research studies with people) for individuals with BRCA1 or BRCA2 mutations is available on NCIs website. The following links will retrieve lists of clinical trials open to individuals with BRCA1 or BRCA2 mutations.

NCIs Cancer Information Service (CIS) can also provide information about clinical trials and help with clinical trial searches.

Do inherited mutations in other genes increase the risk of breast and/or ovarian tumors?

Yes. Although harmful mutations in BRCA1 and BRCA2 are responsible for the disease in nearly half of families with multiple cases of breast cancer and up to 90 percent of families with both breast and ovarian cancer, mutations in a number of other genes have been associated with increased risks of breast and/or ovarian cancers (2, 31). These other genes include several that are associated with the inherited disorders Cowden syndrome, Peutz-Jeghers syndrome, Li-Fraumeni syndrome, and Fanconi anemia, which increase the risk of many cancer types.

Most mutations in these other genes are associated with smaller increases in breast cancer risk than are seen with mutations in BRCA1 and BRCA2. However, researchers recently reported that inherited mutations in the PALB2 gene are associated with a risk of breast cancer nearly as high as that associated with inherited BRCA1 and BRCA2 mutations (32). They estimated that 33 percent of women who inherit a harmful mutation in PALB2 will develop breast cancer by age 70 years. The estimated risk of breast cancer associated with a harmful PALB2 mutation is even higher for women who have a family history of breast cancer: 58 percent of those women will develop breast cancer by age 70 years.

PALB2, like BRCA1 and BRCA2, is a tumor suppressor gene. The PALB2 gene produces a protein that interacts with the proteins produced by the BRCA1 and BRCA2 genes to help repair breaks in DNA. Harmful mutations in PALB2 (also known as FANCN) are associated with increased risks of ovarian, pancreatic, and prostate cancers in addition to an increased risk of breast cancer (13, 33, 34). Mutations in PALB2, when inherited from each parent, can cause a Fanconi anemia subtype, FA-N, that is associated with childhood solid tumors (13, 33, 35).

Although genetic testing for PALB2 mutations is available, expert groups have not yet developed specific guidelines for who should be tested for, or the management of breast cancer risk in individuals with, PALB2 mutations.

Excerpt from:
BRCA1 and BRCA2: Cancer Risk and Genetic Testing

Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your partner, or your baby carry genes for certain inherited disorders.

Genetic testing has developed enough so that doctors can often pinpoint missing or defective genes. The type of genetic test needed to make a specific diagnosis depends on the particular illness that a doctor suspects.

Many different types of body fluids and tissues can be used in genetic testing. For deoxyribonucleic acid (DNA) screening, only a very tiny bit of blood, skin, bone, or other tissue is needed.

For genetic testing before birth, pregnant women may decide toundergo amniocentesis or chorionic villus sampling. There is also a blood test available to women to screen for some disorders. If this screening test finds a possible problem, amniocentesis or chorionic villus sampling may be recommended.

Amniocentesis is a test usually performed between weeks 15 and 20of a woman's pregnancy. The doctor inserts a hollow needle into the woman's abdomen to remove a small amount of amniotic fluid from around the developing fetus. This fluid can be tested to check for genetic problems and to determine the sex of the child. When there's risk of premature birth, amniocentesis may be done to see how far the baby's lungs have matured. Amniocentesis carries a slight risk of inducing a miscarriage.

Chorionic villus sampling (CVS) is usually performed between the 10th and 12th weeks of pregnancy. The doctor removes a small piece of the placenta to check for genetic problems in the fetus. Because chorionic villus sampling is an invasive test, there's a small risk that it can induce a miscarriage.

A doctor may recommend genetic counseling or testing for any of the following reasons:

Although advances in genetic testing have improved doctors' ability to diagnose and treat certain illnesses, there are still some limits. Genetic tests can identify a particular problem gene, but can't always predict how severely that gene will affect the person who carries it. In cystic fibrosis, for example, finding a problem gene on chromosome number 7 can't necessarily predict whether a child will have serious lung problems or milder respiratory symptoms.

Also, simply having problem genes is only half the story because many illnesses develop from a mix of high-risk genes and environmental factors. Knowing that you carry high-risk genes may actually be an advantage if it gives you the chance to modify your lifestyle to avoid becoming sick.

As research continues, genes are being identified that put people at risk for illnesses like cancer, heart disease, psychiatric disorders, and many other medical problems. The hope is that someday it will be possible to develop specific types of gene therapy to totally prevent some diseases and illnesses.

Gene therapy is already being studied as a possible way to treat conditions like cystic fibrosis, cancer, and ADA deficiency (an immune deficiency), sickle cell disease, hemophilia, and thalassemia. However, severe complications have occurred in some patients receiving gene therapy, so current research with gene therapy is very carefully controlled.

Although genetic treatments for some conditions may be a long way off, there is still great hope that many more genetic cures will be found. The Human Genome Project, which was completed in 2003, identified and mapped out all of the genes (about 25,000) carried in our human chromosomes. The map is just the start, but it's a very hopeful beginning.

Date reviewed: April 2014

Read more:
Genetic Testing - kidshealth.org

GeneDx has new and expanded panels for winter 2015!

To read more, please click the links below:

New Testing -Winter 2015

Expanded Testing -Winter 2015

GeneDx has published two studies in Genetics in Medicine. Congratulations to our GeneDx authors!

To read more, please click on the links below:

Recently the American College of Medical Genetics published new guidelines for the interpretation of genetic sequence variants (Richards et al. (2015) Genetics in Medicine: Official Journal of the American College Of Medical Genetics: (PMID: 25741868). The process of variant interpretation is dynamic and challenging. The purpose of the guidelines is to standardize the terminology used by clinical laboratories when describing variants, and to establish specific criteria that should be utilized when interpreting sequencing variants. On Wednesday, September 30, 2015, GeneDx transitioned to using the new ACMG terminology in our reports. The chart below outlines the new terminology as it relates to our previous report language. Additionally, over the next 6 months, GeneDx will be implementing the guidelines into our variant interpretations. Please continue to check our website for updated information and announcements as we move forward with the implementation of these new guidelines.

Likely benign Variants

Variants that are interpreted to be likely benign have multiple lines of evidence supporting the argument that they are not the cause of disease in an individual. Therefore, in accordance with the ACMG guidelines, as of Thursday, October 29, 2015, GeneDx will no longer routinely report likely benign variants in our reports. A list of benign and likely benign variants can be provided upon request.

Click on the link below to view the recent AMA videousedto educate and lobby against FDA regulation of laboratory developed tests with voice over done by our co-founder,Sherri Bale.

http://www.ama-assn.org/ama/pub/advocacy/topics/personalized-medicine.page

Interested in pursuing a career in genetic counseling? Please join us at our GeneDx Prospective GC Visitors Day, an event dedicated to providing you with inside information about the field of genetic counseling. Learn about the many roles of genetic counselors at GeneDx, engage in lively discussions and learn about becoming a more well-rounded GC graduate school applicant and career options in general.

Date: August 13, 2015

Time: 9-1pm ET

Location: GeneDx 207 Perry Parkway, Gaithersburg, MD 20877

RSVP: Meg Bradbury, MS, CGC, MSHS (mbradbury@genedx.com) by August 7, 2015

If you are not in the Maryland area please join us remotely! For further information please contact Mbradbury@genedx.com to RSVP and request a login to join us online.Please pass on to anyone who might be interested.

GeneDxs Genetic Counselors

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GeneDx | Genetic Testing Company | The DNA Diagnostic Experts

Alice Pare-Johnson

19737 Executive Park Circle Germantown, MD

Shelly Ava Mulkey

19737 EXECUTIVE PARK CIR GERMANTOWN, MD

Paul S Lewis

4 Professional Drive, Suite 145 Gaithersburg, MD

Gwyn Cara Hoerauf

301 S FREDERICK AVE GAITHERSBURG, MD

Elliott A Alman

183 Mill Green Ave. Suite 100 Gaithersburg, MD

Alice Ann Pare-Johnson

19737 EXECUTIVE PARK CIR GERMANTOWN, MD

Karen Hulme Alegi

4 Professional Drive, Suite 145 Gaithersburg, MD

Stuart Muntzing Skok

4 PROFESSIONAL DR STE 145 GAITHERSBURG, MD

Kristina Badalian

16061 COMPRINT CIR GAITHERSBURG, MD

Erin Leigh Rosenthal

16061 COMPRINT CIR GAITHERSBURG, MD

People in Maryland shared their opinions about Paternity Testing

Do you personally know of anyone who has undergone paternity/maternity testing?

Yes: 67%

No: 28%

Unsure: 3%

Have you undergone paternity or maternity testing?

Yes: 28%

No: 67%

Rather not say: 3%

What was the reason that you underwent paternity/maternity testing?

Ordered by the court to prove I was/was not the parent: 25%

For my own proof that I was/was not the parent: 37%

To prove to the mother/father/child that I was/was not the parent: 0%

Other: 0%

Rather not say: 37%

Have any of your immediate family members ever undergone paternity/maternity testing?

Yes: 25%

No: 57%

Unsure: 17%

Please rate your level of agreement/disagreement with the following statement: It is a violation of constitutional rights and/or human rights for a court to order a person to undergo a paternity/maternity test.

Completely disagree: 32%

Mostly disagree: 17%

Neither agree or disagree: 32%

Mostly agree: 7%

Completely agree: 10%

Regarding the results of paternity/maternity tests, how well do you trust the results?

Completely distrust: 7%

Distrust: 7%

Unsure whether they are trustworthy or not: 25%

Trust: 42%

Completely trust: 17%

Source: Survey.com

Continued here:
Genetic Testing Germantown MD - DNA Diagnostics Center

Genetics services

Genetic testing can be used to find out whether a person is carrying aspecific genetic mutation (altered gene) that causes a particular medical condition.

Itmay be carried out for anumber of reasons, including:

You will usually need to get a referral from your GP, or a specialist doctor if you have one, for genetic testing to be carried out speak to your GP or your doctor about the possibility of testing if you think you may need it.

Genetic testing usually involves having a sample of your blood or tissue taken. The sample will contain cells containing your DNA and can be tested to find out whether you are carrying a particular mutation and are at risk of developing a particular genetic condition.

In some cases, genetic testing can be carried out to see if a foetus is likely to be born with a certain genetic condition by testing samples of amniotic fluid (the fluid that surrounds the foetus in the womb) or chorionic villi cells (cells that develop into the placenta) extracted from the mother's womb using a needle.

Depending on the condition(s) being tested for, the blood or cell samples will then be tested and examined in a genetics laboratory to check fora specific gene, a certain mutation on a specific gene or any mutation on aspecific gene.

In some cases, it may be necessary to check an entire gene for mutations, using a process called gene sequencing. This has to be done very carefully, and it can take a long time compared to most other hospital laboratory tests.

Depending on the specific mutation being tested for, it can take weeks or even months for the results of genetic tests to become available. This can be because the laboratory has to gather information to help them interpret what has been found.

It is also important to realise that it is not always possible to give definite answers after genetic testing. Sometimes it is necessary to wait to see if the person being tested or other relatives do, or do not develop a condition, and other tests may need to be performed.

You can find out more about genetic testing and how it is carried out by reading the leaflet: 'What happens in a genetics laboratory?' (PDF, 1.90Mb).

If your doctor thinks genetic testing may be appropriate in your case, you will usually be referred for genetic counselling as well.

Genetic counselling is a service that provides support, information and advice about genetic conditions. It is conducted by healthcare professionals who have been specially trained in the science of human genetics (a genetic counsellor or a clinical geneticist).

What happens during genetic counselling will depend on exactly why you've been referred. It may involve:

You will be given clear, accurate information so you can decide what's best for you.

Your appointment will usually take place at your nearest NHS regional genetics centre. The British Society for Genetic Medicine has details for each of the genetics centres in the UK.

For couples at risk of having a child with a serious genetic condition, pre-implantation genetic diagnosis (PGD) may be an option.

PGD involves using in-vitro fertilisation (IVF), where eggs are removed from a woman's ovaries before being fertilised with sperm in a laboratory. After a few days, the resulting embryos can be tested fora particular genetic mutation and a maximum of two unaffected embryos are transferred into the uterus.

While PGD has the advantage of avoiding the termination of foetuses affected byserious conditions, it also has a number of drawbacks. These include the modest success rate of achieving a pregnancy after IVF, as well as the substantial financial (PGD is not always available on the NHS) and emotional burdens of the combined IVF and PGD process.

Page last reviewed: 08/08/2014

Next review due: 08/08/2016

Follow this link:
Genetics - Genetic testing and counselling - NHS Choices

Jeffrey Paul Nunnari

3349 Executive Pkwy, Ste D Toledo, OH

Patricia Hayden Kurt

608 MADISON AVE NATIONAL BANK BLDG TOLEDO, OH

Tybo Alan Wilhelms

405 Madison Avenue, Suite 1300 Toledo, OH

Mark Davis

500 MADISON AVE STE 525 TOLEDO, OH

Melan M Forcht

405 N HURON ST INNS OF COURT BLDG TOLEDO, OH

David Charles Shook

3450 W Central Ave Ste 326 Toledo, OH

Martin Joseph Holmes

300 Madison Ave., 1200 Edison Plaza Toledo, OH

Amy Elizabeth Stoner

520 Madison Ave Ste 545 Toledo, OH

Tonya Marie Robinson

Four Seagate Suite 400 Toledo, OH

Stephen Terrance Priestap

316 N MICHIGAN ST STE 300 TOLEDO, OH

People in Ohio shared their opinions about Paternity Testing

Do you personally know of anyone who has undergone paternity/maternity testing?

Yes: 68%

No: 26%

Unsure: 4%

Have you undergone paternity or maternity testing?

Yes: 13%

No: 84%

Rather not say: 1%

What was the reason that you underwent paternity/maternity testing?

Ordered by the court to prove I was/was not the parent: 16%

For my own proof that I was/was not the parent: 33%

To prove to the mother/father/child that I was/was not the parent: 16%

Other: 16%

Rather not say: 16%

Have any of your immediate family members ever undergone paternity/maternity testing?

Yes: 32%

No: 58%

Unsure: 9%

Please rate your level of agreement/disagreement with the following statement: It is a violation of constitutional rights and/or human rights for a court to order a person to undergo a paternity/maternity test.

Completely disagree: 48%

Mostly disagree: 18%

Neither agree or disagree: 20%

Mostly agree: 8%

Completely agree: 3%

Regarding the results of paternity/maternity tests, how well do you trust the results?

Completely distrust: 4%

Distrust: 2%

Unsure whether they are trustworthy or not: 19%

Trust: 50%

Completely trust: 23%

Source: Survey.com

See the original post:
Genetic Testing Toledo OH - DNA Diagnostics Center

One of the most advanced screening procedures available, genetic testing and screening provides patients with the knowledge they need to make better decisions about their health.

Doctors may recommend genetic testing if the patients family has a history of the condition

Many patients are screened for genetic disorders to determine if they are at higher risk for developing these disorders or if they may carry the gene to pass along to children.

While genetic testing may be recommended by your doctor, you should fully understand the implications of this testing before making your choice. In fact, doctors at Florida Hospital recommend seeking pre-test counseling to understand these important factors:

Remember, even if you test positive for the gene, it does not mean you will develop the disease. Likewise, if you do not test positive for the gene, you may still develop the disease. Your doctor can help interpret the results for you.

Genetic testing and screening can be completed on samples of your skin, blood, hair, urine or other tissues. You may be asked to give a blood sample or have a swab from the inside of your mouth.

While the test procedures are considered safe, the results can affect your emotions, your job and even your health care coverage. Its important to determine how you will react if you have a positive or negative test.

For more information, schedule an appointmentat Florida Hospital to speak with one of the specialists.

Read the rest here:
Genetic Testing and Screening | Florida Hospital

Who Gets the Test?

Genetic testing is an option for any woman before or during pregnancy. Sometimes the baby's father gets tested, too. Your doctor may suggest genetic testing if family history puts your baby at a higher risk of inherited diseases.

The tests you need may depend on your heritage. Certain ethnic groups have a higher risk of certain diseases. For instance, people with eastern European or Ashkenazi backgrounds have a higher risk of Tay-Sachs disease and Canavan disease. African-Americans have a higher risk of sickle cell disease. Whites have a higher risk of cystic fibrosis.

Doctors use different types of genetic testing. Standard screenings check your baby's risk of birth defects such as Down syndrome, trisomy 18, trisomy 13, neural tube defects, and others. Carrier tests can show if you -- or the baby's father -- could carry genetic diseases. These include cystic fibrosis, Fragile X syndrome, sickle cell disease, Tay-Sachs, and others.

A nurse or phlebotomist will take a sample of your blood or saliva. There is no risk to you or your baby.

Genetic tests don't diagnose your baby with a disease. They only tell you if your baby has a higher risk. Your doctor may suggest follow-up tests, such as amniocentesis or CVS, to get more information.

Testing the father can also help. Some diseases can be inherited only if both parents carry the gene. Your doctor can rule out some problems, such as Tay-Sachs, cystic fibrosis, and sickle cell anemia, if the father tests negative -- even if you test positive.

Just once.

Carrier Screening, Triple Screen, Quad Screen, Multiple Marker Screening

Amniocentesis, CVS

Originally posted here:
Genetic testing - WebMD

Genetic testing is the process of using medical tests to look for changes (mutations) in a persons genes or chromosomes. Hundreds of different genetic tests are used today, and more are being developed.

Genetic testing can be used in different situations. The type of testing most often used to check for cancer risk is called predictive gene testing. Its used to look for gene mutations that might put a person at risk of getting a disease. Its usually done in families with a history that suggests theres a disease that may be inherited. An example is testing for changes in the BRCA1 and BRCA2 genes (known breast cancer genes) in a woman whose mother and sister had breast cancer.

Genetic testing is also used for other reasons:

All of these forms of genetic testing, including predictive gene testing, look for gene changes that are passed from one generation to the next and are found in every cell in the body. Except for the newborn screening tests, they are used mainly for people with certain types of disease that seem to run in their families. They are not needed by most people.

Cancer-related genetic tests are most commonly done as predictive genetic tests. They may be used:

Sometimes after a person has been diagnosed with cancer, the doctor will order tests to look for gene changes in a sample of the cancer cells. These tests can give information on a persons outlook (prognosis) and can sometimes help tell whether certain types of treatment might be useful.

These types of tests look for gene changes only in the cancer cells that are taken from the patient. These tests are not the same as the tests used to find out about inherited cancer risk.

This document does not cover gene testing done on cancer cells. For more about this kind of testing and its use in cancer treatment, see our information on specific types of cancer.

The rest of this document focuses on predictive genetic testing for inherited mutations as they relate to cancer.

Read the original here:
What is genetic testing? - American Cancer Society

Genetic tests have been developed for thousands of diseases. Most tests look at single genes and are used to diagnose rare genetic disorders, such as Fragile X Syndrome and Duchenne Muscular Dystrophy. In addition, some genetic tests look at rare inherited mutations of otherwise protective genes, such as BRCA1 and BRCA2, which are responsible for some hereditary breast and ovarian cancers. However, a growing number of tests are being developed to look at multiple genes that may increase or decrease a persons risk of common diseases, such as cancer or diabetes. Such tests and other applications of genomic technologies have the potential to help prevent common disease and improve the health of individuals and populations. For example, predictive gene tests may be used to help determine the risk of developing common diseases, and pharmacogenetic tests may be used to help identify genetic variations that can influence a persons response to medicines. There is much we still need to learn about how effective these new tests are, and the best way to use them to improve health. Learn more.

Despite the many scientific advances in genetics, researchers have only identified a small fraction of the genetic component of most diseases. Therefore, genetic tests for many diseases are developed on the basis of limited scientific information and may not yet provide valid or useful results to individuals who are tested. However, many genetic tests are being marketed prematurely to the public through the Internet, TV, and other media. This may lead to the misuse of these tests and the potential for physical or psychological harms to the public. At the same time, valid and useful tests, such as those for hereditary breast and ovarian cancer or for Lynch syndrome, a form of hereditary colorectal cancer, are not widely used, in part because of limited research on how to get useful tests implemented into practice across U.S. communities. Individuals can learn more about specific genetic tests by visiting the Web sites listed below or by talking with their doctor.

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In 2008, the former Secretary's Advisory Committee on Genetics, Health and Society of the U.S. Department of Health and Human Services released a report identifying gaps in the regulation, oversight, and usefulness of genetic testing. They expressed the need for timely, reliable information that health care providers, payers, public health practitioners, policy makers, and consumers could use to make more informed decisions about the appropriate use of these tests in clinical and public health practice.

To begin addressing this need for reliable information, CDCs Office of Public Health Genomics (OPHG) established the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative project to systematically evaluate genetic tests and other applications of genomic technology that are in transition from research to clinical and public health practice. Since 2005, the independent EGAPP Working Group has released nine recommendations on the validity and utility of specific genetic tests.

The U.S. Preventive Services Task Force (USPSTF) has also released recommendations on specific genetic tests used in selected clinical scenarios involving breast cancer, colorectal cancer, and hemochromatosis.

In addition the Genetic Test Registry was developed by NCBI. The article "The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency" in the journal Nucleic Acids Research describes in detail this database.

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Also see the genetic testing and genetic counseling sections of CDCs Office of Public Health Genomics resource guide.

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Excerpt from:
Genomics |Genetic Testing

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a persons chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use, and more are being developed.

Several methods can be used for genetic testing:

Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.

Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.

MedlinePlus offers a list of links to information about genetic testing.

The National Human Genome Research Institute provides an overview of this topic in its Frequently Asked Questions About Genetic Testing. Additional information about genetic testing legislation, policy, and oversight is available from the Institute.

The National Institutes of Health fact sheet Genetic Testing: What It Means for Your Health and for Your Familys Health provides a brief overview for people considering genetic testing.

Educational resources related to genetic testing are available from GeneEd.

You can also search for clinical trials involving genetic testing. ClinicalTrials.gov, a service of the National Institutes of Health, provides easy access to information on clinical trials. You can search for specific trials or browse by condition or trial sponsor. You may wish to refer to a list of studies related to genetic testing that are accepting (or will accept) participants.

Next: What are the types of genetic tests?

Read more:
What is genetic testing? - Genetics Home Reference

Genetic testing gives people the chance to learn if their family history of breast cancer is due to an inherited gene mutation.

Most women who get breast cancer do not have an inherited gene mutation. Five to 10 percent of breast cancers in the U.S. are linked to an inherited gene mutation [4,33].

Every cell in your body contains genes. Genes contain the blueprints (genetic code) for your body. For example, they contain the information that determines the color of your eyes. They also contain information that affects how the cells in your body grow, divide and die.

The information in your genes is passed on (inherited) from both your mother and your father. And, you can pass this information on to your children, both your daughters and sons.

Some changes in the genetic code that affect the function of the gene are called mutations. Mutations are rare. However, just as with other information in genes, mutations can be passed on from a parent to a child.

Some inherited gene mutations increase breast cancer risk. BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) are the best-known genes linked to breast cancer. People who have a BRCA1 or BRCA2 mutation have a greatly increased risk of breast cancer and (for women) ovarian cancer. However, there are some options for lowering these increased risks.

Learn more about BRCA1 and BRCA2 mutations and breast cancer risk.

Komen Perspectives

Learn More

Although genetic testing for BRCA1 and BRCA2 is widely advertised, testing is only recommended for certain people, including those with [246]:

Original post:
Genetic Testing - BRCA1 & BRCA2 Mutations | Susan G. Komen

What are genes and how are they related to disease?

Genes are segments of DNA. Genes are found in chromosomes and they control growth and help you stay healthy. Sometimes, when genes are abnormal or damaged, they may not work properly, which may lead to disease. Some genetic abnormalities, or gene mutations, may run in families. Some just happen by chance. Sometimes one mutation can cause a person to have a disease, but most diseases are caused by a combination of genetic and environmental factors.

Genetic testing may help to show if youve inherited a tendency to get certain diseases. A sample of blood or skin is usually needed for genetic testing.

A positive test result means that you have the mutation youve been tested for. If you have a positive test result, it means you may be more likely to get a particular disease than most people, but it doesnt mean you will definitely get the disease.

A negative test result means that you dont have that particular mutation. This may mean that the disease doesnt run in your family. A negative result doesnt mean you wont get the disease. It only means that youre not more likely to get the disease than other people are.

By looking at your family history, your doctor can tell if youre likely to have a gene mutation that may contribute to disease. A disease might run in your family if a blood relative developed the disease at a young age or if several family members have the disease. People from certain ethnic groups may also be more likely to get certain diseases. If one of your family members already has the disease, that person should be tested first. This helps show which genes, if any, are associated with the disease.

If you think you may be at high risk for an inherited disease, talk to your family doctor. Your doctor will ask you questions about your health and the health of your blood relatives. This information will help your doctor find out what your risks might be. The information your doctor gives you about your risks can help you decide whether you want to be tested.

There are 2 important questions you should think about before you go through genetic testing:

1. What can I gain by being tested?

Here are some reasons you might want genetic testing:

View post:
Genetic Testing: What You Should Know - FamilyDoctor.org

Genetic testing can provide information about a persons genes and chromosomes. Available types of testing include:

Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. Millions of babies are tested each year in the United States. All states currently test infants for phenylketonuria (a genetic disorder that causes intellectual disability if left untreated) and congenital hypothyroidism (a disorder of the thyroid gland). Most states also test for other genetic disorders.

Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Diagnostic testing can be performed before birth or at any time during a persons life, but is not available for all genes or all genetic conditions. The results of a diagnostic test can influence a persons choices about health care and the management of the disorder.

Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions. If both parents are tested, the test can provide information about a couples risk of having a child with a genetic condition.

Prenatal testing is used to detect changes in a fetuss genes or chromosomes before birth. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a couples uncertainty or help them make decisions about a pregnancy. It cannot identify all possible inherited disorders and birth defects, however.

Preimplantation testing, also called preimplantation genetic diagnosis (PGD), is a specialized technique that can reduce the risk of having a child with a particular genetic or chromosomal disorder. It is used to detect genetic changes in embryos that were created using assisted reproductive techniques such as in-vitro fertilization. In-vitro fertilization involves removing egg cells from a womans ovaries and fertilizing them with sperm cells outside the body. To perform preimplantation testing, a small number of cells are taken from these embryos and tested for certain genetic changes. Only embryos without these changes are implanted in the uterus to initiate a pregnancy.

Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing. Predictive testing can identify mutations that increase a persons risk of developing disorders with a genetic basis, such as certain types of cancer. Presymptomatic testing can determine whether a person will develop a genetic disorder, such as hereditary hemochromatosis (an iron overload disorder), before any signs or symptoms appear. The results of predictive and presymptomatic testing can provide information about a persons risk of developing a specific disorder and help with making decisions about medical care.

Forensic testing uses DNA sequences to identify an individual for legal purposes. Unlike the tests described above, forensic testing is not used to detect gene mutations associated with disease. This type of testing can identify crime or catastrophe victims, rule out or implicate a crime suspect, or establish biological relationships between people (for example, paternity).

A Brief Primer on Genetic Testing, which outlines the different kinds of genetic tests, is available from the National Human Genome Research Institute.

Educational resources related to patient genetic testing/carrier screening are available from GeneEd. Johns Hopkins Medicine provides additional information about genetic carrier screening.

See the article here:
Types of Genetic Testing - Genetics Home Reference

Regulation of Genetic Tests Overview of Genetic Testing

As the science of genomics advances, genetic testing is becoming more commonplace in the clinic. Yet most genetic tests are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller. The Food and Drug Administration (FDA) has the authority to regulate genetic tests, but it has to date only regulated the relatively small number of genetic tests sold to laboratories as kits. Whereas the Centers for Medicare and Medicaid Services (CMS) does regulate clinical laboratories, it does not examine whether the tests performed are clinically meaningful. Since the 1990s, expert panels and members of Congress have expressed concern about this regulatory gap and the need for FDA to address it. In response, the FDA in 2010 announced plans to expand its regulation to all genetic tests; this expansion has yet to take place. In the interim, FDA continues to regulate test kits, and has begun to regulate genomics tools in clinical research.

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The term "genetic testing" covers an array of techniques including analysis of human DNA, RNA, or protein.Genetic testsare used as a health care tool to detect gene variants associated with a specific disease or condition, as well as for non-clinical uses such as paternity testing and forensics. In the clinical setting, genetic tests can be performed to determine the genetic cause of a disease, confirm a suspected diagnosis, predict future illness, detect when an individual might pass a genetic mutation to his or her children, and predict response to therapy. They are also performed to screen newborns, fetuses, or embryos used in in vitrofertilization for genetic defects.

The first genetic tests were for the detection of chromosomal abnormalities (seekaryotype) and mutations in single genes causing rare, inherited disorders likecystic fibrosis. In recent years, however, the variety of tests has greatly expanded. There are now tests involving complex analyses of a number of genes to, for example, identify one's risk for chronic diseases such as heart disease and cancer, or to quantify a patient's risk of cancer reoccurrence. There are also many tests to predict the effectiveness of therapeutics and guide their administration. Furthermore, NHGRI is pursuing research to enable the clinical use of multi-gene panels, whole exome sequencing (analysis of all a patient's genes), and whole genome sequencing (analysis of a patient's entire genetic code), to detect, for instance, the cause of an undiagnosed disease or a cancerous tumor.

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Three federal agencies play a role in the regulation of genetic tests: CMS, FDA, and the Federal Trade Commission (FTC). CMS is responsible for regulating all clinical laboratories performing genetic testing, ensuring their compliance with the Clinical Laboratory Improvement Amendments of 1988 (CLIA). The objective of CLIA is to certify the clinical testing quality, including verification of the procedures used and the qualifications of the technicians processing the tests. It also comprises proficiency testing for some tests. More details of CLIA are available in this factsheet

The FDA has the broadest authority in terms of regulating the safety and effectiveness of genetic tests as medical devices under the Federal Food, Drug, and Cosmetic Act. Whether FDA regulates a test is determined by how it comes to market. A test may be marketed as a commercial test "kit," a group of reagents used in the processing of genetic samples that are packaged together and sold to multiple labs. More commonly, a test comes to market as a laboratory-developed test (LDT), where the test is developed and performed by a single laboratory, and where specimen samples are sent to that laboratory to be tested. The FDA regulates only tests sold as kits and, to date, has practiced "enforcement discretion" for LDTs.

The degree of FDA oversight of a genetic test is based on its intended use and the risks posed by an inaccurate test result. The FDA categorizes medical devices, including genetic tests, into three separate classes, ranging from class I, for relatively low risk products, to class III, where tests are subject to the greatest level of scrutiny.A complete list of approved human genetic tests is listed here.

FDA oversight also includes pharmacogenomics, which is the use of genomic information to help predict how an individual might respond to a particular drug, to identify individuals who might experience an adverse reaction to taking a drug, or to assist in selecting the optimal dosage of a drug. Part of the FDA's oversight of marketed drugs is to ensure that manufacturers provide information on drug labels about genetic markers that is relevant for drug safety and effectiveness. A list of approved pharmacogenomic drugs is available here.

Read more here:
Regulation of Genetic Tests