1 Genetic Testing for Cancer: What You Need to Know Here is some basic information about genetic testing and how it s used to learn about inherited cancer risk. It will help you understand what genetic testing is, but it won t give you specific information or advice on genetic testing for any one disease. A doctor or a genetic counselor who knows about the diseases in your family is better able to talk with you about your risks and what you might learn from genetic testing. Genes, mutations, and cancer risk Genetics is the field of science that looks at how traits (such as eye color) are passed down from parents to their children through genes. Genes are pieces of DNA (deoxyribonucleic acid) inside each of our cells that instruct them how to make the proteins the body needs to function. DNA is the genetic blueprint found in each cell. Genes affect inherited traits passed on from a parent to a child, such as hair color, eye color, and height. They also affect whether a person is likely to develop certain diseases, such as cancer. In humans, genes are located on 23 pairs of long strands of DNA called chromosomes. One of each chromosome pair comes from the mother, and the other from the father. Each chromosome can contain hundreds or thousands of genes that are passed from the parents to the child. The genes you were born with are in every cell in your body. Changes to these genes, called mutations, play an important role in the development of cancer. Mutations can cause a cell to make (or not make) proteins that affect how it grows and divides into new cells. Certain mutations can cause cells to grow out of control, which can lead to cancer. Usually several gene changes are needed before a cell becomes cancer. To learn more about different types of cancer-related genes, please see our document called Genes and Cancer. Some gene changes that lead to cancer may be inherited from a parent, but most are not. Only about 5% to 10% of all cancers are thought to be related to an inherited gene change that strongly affects a person s risk for a certain type of cancer. Most cancers start because of gene mutations that happen sometime during a person s lifetime. Sometimes these gene changes have an outside cause, such as exposure to sunlight or tobacco. But gene changes can also just be random events that sometimes happen inside a cell, without an obvious cause.
2 These types of acquired (as opposed to inherited) mutations only affect the cells that grow from the mutated cell. They do not affect all the cells in the person s body. This means all the cancer cells will have the mutations, but the normal, non-cancerous cells of the body will not have them. This is very different from inherited mutations, which are in every cell in the body even the cells without cancer. What is genetic testing? Genetic testing is the process of using medical tests to look for changes (mutations) in a person s genes or chromosomes. Hundreds of different genetic tests are used today, and more are being developed. Genetic testing for diseases that can be inherited 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. It s used to look for gene mutations that might put a person at risk of getting a disease. It s usually done in families with a history that suggests there s 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: Carrier testing can be used to help couples learn if they carry a gene mutation for a disorder they might pass on to a child, such as cystic fibrosis, sickle-cell anemia, or Tay-Sachs disease. Prenatal screening can be used to diagnose some conditions in babies before they are even born, such as Down syndrome. Newborn screening is the most widespread form of genetic testing. Newborns are screened for a number of inherited conditions such as phenylketonuria (PKU), cystic fibrosis, sickle cell disease, and others. The tests required vary from state to state. 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. Genetic testing for cancer risk Cancer-related genetic tests are most commonly done as predictive genetic tests. They may be used: To see if a person has a certain gene mutation known to increase the risk for a certain cancer (or cancers) To confirm a suspected gene mutation in a person or family
3 Testing cancer cells for genetic changes 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 person s 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. Who should have genetic testing? Genetic testing to learn about your cancer risk is done only if you decide to have it. If you are concerned about your family s pattern of disease, cancer you ve had in the past, or other cancer risk factors, you may want to talk to your doctor about whether to have genetic testing. Doctors will sometimes suggest patients have genetic testing if others in their family have had a certain disease or certain patterns of disease. If you have any of the following, you might consider genetic testing for yourself: Several first-degree relatives (mother, father, sisters, brothers, children) with cancer, especially if they ve had the same type of cancer Cancers in your family that are sometimes linked to a single gene mutation (for instance, breast, ovarian, and pancreatic cancer). Family members who had cancer at a younger age than normal for that type of cancer Close relatives with rare cancers that are linked to inherited cancer syndromes A physical finding that is linked to an inherited cancer (such as having many colon polyps) A known genetic mutation in one or more family members who have already had genetic testing You need to know what tests may be available. For some types of cancer, no known mutations have been linked to an increased risk. Other cancer types may have known mutations, but genetic tests are not yet available for them. For more information on the types of cancers for which inherited genes may be important, please see our document Family Cancer Syndromes. It s important to find out how useful testing may be for you before you do it. Meeting with a genetic counselor before the actual test can help you know what to expect. The counselor can tell you about the pros and cons of the test, what the results might mean, and what your options would be at that point. You will want to think about how the results might affect you and your relatives, and discuss these issues with the counselor before your test.
4 After the test is done, your genetic counselor will share the results with you. Some people choose to bring a family member to help share results with other family members. Although testing does not always give you clear answers, genetic counselors are trained to interpret and explain the test results and what they might mean to you and your family. If a mutation is found, the counselor will talk to you about which of your family members might also be affected. It will be important for those family members to know exactly which mutation was found and in which gene. They can then discuss this information with their doctors and consider being tested, too. What are the benefits of genetic testing? The obvious benefit of genetic testing is the chance for a better understanding of your risk for a certain disease. Testing is not perfect, but it can often help you make decisions about your health. A negative result on a genetic test in families at risk for a specific cancer may help relieve anxiety or uncertainty. In the same way, a positive result can help you make important decisions about your future, perhaps including things you can do to help lower your risk. A positive result may also lead to finding disease earlier, when treatment is more likely to be helpful. For people already diagnosed with cancer, genetic testing of the tumor can often help determine the prognosis (outlook), and can sometimes even help in deciding which treatments will most likely work. As scientists learn more about the genes that contribute to cancer, genetic testing will probably become more helpful in learning about a person s cancer risk. What are the drawbacks of genetic testing? Genetic tests have several potential problems you should think about before being tested: Limited answers Genetic tests do not give precise answers about inherited diseases, especially about breast and colon cancer. A positive test result does not always mean you will get the disease. The test can tell what might happen, but it cannot tell what will happen. On the other hand, a negative result does not mean you have no risk of getting the disease. As with many medical tests, genetic tests may be flawed, or test results may be read wrong. Though many steps are taken to prevent this, genetic testing is not tightly regulated, and different labs may have different ways of looking for a certain mutation. Sometimes a genetic test may be done even though the result has little chance of helping the person. When this happens, the test may create anxiety when the original intent was to relieve it. This is why counseling before you get the test is so important you ll want to know exactly how the result could help you, and if it would help enough to make up for the stress it can cause.
5 Psychological or emotional impact Many people are anxious even before they get their test results. They may think about how the result might affect them and their families, and how they can talk about and manage the information. Learning that you have or might develop a serious disease can be frightening. The person being tested may find it even more upsetting if family members have already died of the disease in question. A positive genetic test result can also affect other family members. More family members may need to be tested. Sometimes family secrets are revealed as a result paternity, adoptions, or other difficult issues may come up. Having a gene or passing a gene on to children can bring out feelings of guilt or anger. The test results might also affect future relationships with a spouse or other family members, which can be stressful, too. In some cases, more medical tests or procedures may have to be done as a result of genetic testing. For example, if a gene mutation for colorectal cancer is found, more tests like colonoscopy may be recommended. These extra tests can also be sources of stress and anxiety. Privacy issues Most people who ask about the privacy of genetic information are concerned about how the information may be used in ways that can harm them. Most Americans are afraid that employers and insurance companies might get and use their genetic information. They fear an employer could find out and discriminate by not hiring or promoting them, but the Genetic Information Nondiscrimination Act (GINA) law forbids most employers from doing this (see below). Some people are even concerned that adoption efforts could be stopped based on this type of sensitive information. On the other side, some companies and researchers are concerned about there being too many restrictions on this information, which could be useful to scientists. The privacy issue becomes even more complicated when many family members may be affected by a single positive genetic test result. For these reasons, it s important to think about who might learn about your results and with whom you will want to share your results before you decide on testing. National law prohibits discrimination by employers and health insurers The Genetic Information Nondiscrimination Act (GINA) bars discrimination based on genetic information by employers with more than 15 employees and health insurers. GINA defines genetic information as: A person s own genetic test results The genetic test results of family members One or more family members known to have a genetic disease or disorder
6 Employers: GINA bars employers from discriminating on the basis of genetic information in hiring, termination (firing or layoffs), pay, or other personnel actions such as promotions, classifications, or assignments. The law applies no matter how they got the information. Employers are not allowed to require genetic testing and can t collect genetic information except for very limited exceptions. For instance, it may be allowed when information is needed to meet the requirements of family and medical leave laws or to watch for harmful effects from hazardous workplace exposures. Employers must keep genetic information confidential. They can t release or share genetic information except when: The employee asks them to Fulfilling a request from a health researcher Complying with medical leave law Disclosing or reporting to a public health agency Health insurers: GINA bars health insurers (including group health plans, individual plans, and Medicare supplemental plans) from turning down people or charging higher premiums for health insurance based on genetic information or the use of genetic services. This includes genetic counseling and testing. The law also bars these insurers from asking for or requiring genetic tests. GINA applies to all health insurance plans (including federally regulated ERISA plans, stateregulated plans, and private individual plans). A few states have stronger laws than GINA. GINA does not replace state laws against genetic discrimination that are broader in scope. Rather, GINA establishes a national floor of protection while allowing states to impose stronger protection for patients. GINA s protections do not extend to life insurance, disability insurance and long-term care insurance. It also doesn t require health insurance to cover genetic testing. GINA does not apply to very small employers (with fewer than 15 employees), nor does it apply to military health plans, the Veterans Administration, or the Indian Health Service. GINA does not apply to federal employees who get health coverage through the Federal Employees Health Benefits Plans. Genetic testing ads: promises that don t always deliver The social, legal, and ethical challenges posed by genetic information are further complicated by the way genetic tests are sometimes marketed. Manufacturers now advertise and promote genetic testing to doctors and to the public. Sometimes they make the test sound much more helpful and decisive than it has actually proven to be. This can be harmful because decisions about testing may be made based on incomplete information, or even on the basis of misleading or wrong information. A lot of tests don t give the answers they seem to promise. Reputable genetics counselors (see the section below, Genetic counseling ) can help you know what to expect from your test results.
7 Who pays for genetic testing? Genetic testing is complicated, and it can cost a lot. Some tests cost more than others, but the final bill can be thousands of dollars. Be sure you have an idea of how much it will cost you before you have testing done. If you have health insurance, you must decide if you re going to ask your insurance company to help pay for testing. For the most part, state and federal laws do not require insurance companies to pay for predictive testing. Some companies may cover the testing, while others may not. The new federal health care law says that genetic testing should be covered for some women at higher risk for getting breast and/or ovarian cancer. The amount of coverage depends on your health plan, so you have to find out what s included in your plan. What happens during genetic testing? Genetic testing is typically done only if you and your health care team feel sure that it s the best thing for you and your family. Usually there are several steps before the actual testing is completed. (Some genetic tests are sold as home-based kits that you can buy online. The process for these tests will vary depending on the company that offers them. For more information on these types of tests, see the section What s the future of genetic testing? ) Risk assessment The first step in genetic testing is to find out how likely you are to develop a certain disease. This risk is based on the pattern of disease in your family (called a family history) and other factors. Your risk may be looked at by a doctor, nurse, or trained genetic counselor. You will be asked about your reasons for wanting genetic testing. Your family history (as far back as possible and up to the present day) will be reviewed in depth. The patterns of disease in your family will be identified. It s important to confirm the illnesses in your family by medical records and/or death certificates when possible. If the genetic testing is for a certain type of cancer, you may also be asked about your own medical history. This may include early detection practices, gynecologic history (for women), lifestyle factors, and exposure to things that can cause cancer (carcinogens). You may also have a physical exam that focuses on the cancer of concern in your family. It s often helpful to look at your family s attitudes about cancer and the possibility of a family member being blamed for the cancer. Cultural beliefs, support systems, and finances may also play a role in how your family views cancer. These topics may be discussed, too. Genetic counseling Genetic counselors have special training and graduate degrees in their field. Some doctors and advanced practice oncology nurses with special training may also do genetic counseling. The purpose of genetic counseling is to give you information in an unbiased or neutral way so that you or you and your family can make your own decisions about whether to get tested. Sometimes the need for testing is clear and a doctor will recommend testing and follow-up care. But even if
8 that s the case, you have the right to refuse testing. You may feel more comfortable making a decision after you talk with a genetic counselor. In fact, some health insurers require you to get genetic counseling before genetic testing will be covered. The counselor will discuss how families inherit cancers and how genes are passed on to children, as well as the types of cancer seen in the family and estimates of the person s cancer risk. The pros and cons, cost, and limits of testing are discussed too, as well as who in the family should consider being tested. More than one family member may be offered testing. For example, if testing shows that the person has a high cancer risk, the counselor may also talk about the best ways to manage it. These may include lifestyle changes, early detection, watching for signs and symptoms of cancer, medicines to reduce cancer risk, or even preventive surgery. Many of these issues require an expert counselor. An increased risk of cancer, especially for children, and the potential for discrimination can be frightening. The counselor will explore ways to cope, as well as your specific fears and concerns. How to discuss the test results and what they mean with other family members is another key topic. Your doctor can probably refer you to a genetic counselor in your area. If not, you can find a list of certified genetic counselors on the websites of the National Society of Genetic Counselors or the National Cancer Institute. (See the To learn more section at the end of this document for more information.) Informed consent After risk assessment and genetic counseling, if you decide to be tested you ll be asked to give your informed consent in writing. The process of informing you and your family about testing should cover: The purpose of the genetic test The reason for offering the test to you and/or other family members The type and nature of the genetic condition being tested for Test accuracy Pros and cons of testing (including the limits of what the results might tell you) Other testing options you could use Treatment options that might be available depending on the test results (if this applies to you) Further decisions that may need to be made once the results are back The possible consent to use the results for research purposes after the test Availability of counseling and support services Your right to refuse testing For more information on this process, please see our document Informed Consent.
9 Specimen collection and lab testing Once you have signed the consent form, lab tests are done on cells taken from your body. Genetic tests may be done on a sample of blood, cheek cells, urine, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other body tissues. Genetic tests for cancer usually mean you will give several tubes of blood. A thin needle is put into a vein (usually in your arm) to get the blood. Getting test results Once the testing is complete, the lab reports the results in writing to the doctor or genetic counselor. You will then be given the results during another counseling session. This may not happen until several weeks after the samples are taken. The accuracy of the test and the meaning of the results will be discussed with you in detail. If the result is positive If the results of the test are positive, you have a mutated gene (or genes) that may place you at risk. Your risk of developing the cancer will be discussed in light of the fact that you have the mutation. Many people are concerned or anxious after learning they are at increased risk for cancer. This is normal. The results may lead to strains in family relationships as well. Concern about being treated differently may become more real. Even after the testing is complete there s often a great deal of uncertainty. In most cases, there s no way to know if the disease will even develop. And even if you were to know you will get the disease, you still wouldn t know when it might develop. Your doctor or counselor can help you sort through your options at this point, including what you might be able to do to help lower your risk. If the result is negative If the test result is negative, it means the gene mutation that was tested for is not present. You will probably feel relieved that the test did not show you are at increased risk. But it s important to understand that genetic test results can t always guarantee you re not at increased risk. For example, there might still be a chance that you have a mutation that you were not tested for. (Many genes can have more than one kind of mutation that can result in higher cancer risk.) And rarely, the test result may be a false negative. This means the test reads negative but the mutation is actually there. But even a result that s truly negative does not mean your risk is zero it just means you have the same average risk as most other people. Family members with negative test results may feel guilty if other family members test positive. Your doctor or genetic counselor can help you understand what the test results mean for you and your family and how to deal with them.
10 If the result is inconclusive If there s not enough information to know whether the genetic changes are present, the test result is said to be inconclusive. The person (and family) may still be at a higher risk of developing cancer. Taking steps to lower your risk and have some control over your health can be helpful for some people, but not having a sure result can still cause anxiety and frustration. Your doctor or genetic counselor can help you understand what the results might mean for you and your family and help you cope with them. If the result is variance of unknown or uncertain significance This result can happen when genetic tests show that a person has an unusual form of a gene, but its meaning is unclear. It can be a normal variant, simply a different version of gene that isn t seen often enough to be sure, or there may be some other explanation. For some, a variance of unknown or uncertain significance (VUS) result can cause anxiety, frustration, and even anger because this result gives no information to guide future decisions. Your doctor or genetic counselor can help you understand what the results might mean for you and your family and help you cope with them. What if genetic testing shows an increased cancer risk? If your genetic test result is positive or inconclusive for a gene mutation that could increase your risk of cancer, managing the risk should become a priority. Some of the ways you might lower your risk include taking medicines (called chemoprevention), having preventive (or prophylactic) surgery, and making lifestyle changes. Doing what you can to find cancer early (through testing and awareness of early signs and symptoms), when treatment is most likely to be successful, is also important for people at increased risk. Your doctor may recommend one or more of these approaches, but it s important to understand how much they could affect your risk before you decide on a course of action. You will also want to be sure you understand their risks and downsides before deciding on a plan. Chemoprevention Chemoprevention is the use of medicines to prevent cells from developing into certain types of cancer. Several medicines are being studied and used to help lower the risk of certain cancers in people known to be at high risk. For example, the drugs tamoxifen and raloxifene can be used to reduce breast cancer risk. Each person s risk and medical situation must be considered carefully so that any harmful effects of the drugs do not outweigh the benefits. As we learn more about genetic diseases, we should find out more about using medicines to prevent cancer. Prophylactic (preventive) surgery Prophylactic (preventive) surgery is another option in some cases. For example, some women at high risk for ovarian cancer may decide to have their ovaries removed once they ve had their children.
11 Changes in lifestyle factors Ask your doctor if there are lifestyle changes you can make that could affect your risk, such as limiting alcohol intake and exercising to lower your risk of colon or breast cancer. In some cases the effect of these changes on risk might be small compared to the increased risk from the mutation, but you may still want to ask your doctor what you can do. Cancer detection tests and awareness Early detection tests may be started at an earlier age or be done more often, or special tests may be needed if you have a positive genetic test result. For instance, a person known to have an increased risk of colon cancer might need to start screening earlier than the usual age of 50. Likewise, a woman with a genetic mutation that raises her risk of breast cancer might need breast MRI scans along with her mammograms to look for early signs of the cancer. It s also important to be aware of the possible signs and symptoms of cancers you are at higher risk for, and to see a doctor right away if anything concerns you. Finding and treating cancer early offers the best chance of having a good outcome. Sharing results with family members If you have a gene mutation that raises your risk, there may be other factors to think about, too, such as whether to tell other family members who might also be at increased risk. Telling them might help them decide if they should get tested or adopt some of the approaches to try to lower their risk. On the other hand, some test results may cause more anxiety than anything else, and some family members may not want to know their own risk. This is especially true if there s not much they can do with the results. You may want to speak with family members before you get tested to find out if they want to know your results. How else might genetic information be used? Patients, families, and health care professionals are not the only ones interested in genetic information. Here are some of the other groups who might use this information: Medical and pharmaceutical researchers Medical and pharmaceutical researchers are interested in low-cost access to genetic information and materials. This is why the pharmaceutical industry (companies that make medicines) has opposed donor ownership of genetic material. If a person owns their genetic information, the pharmaceutical companies might have to pay the donor for access to the information. Members of the pharmaceutical lobby have argued against people owning their own genetic information, stating it would drive up drug costs, which would be passed on to the consumer. Today, medical researchers must get the individual s informed consent before any studies of tissue samples and DNA can be done.
12 Insurers Insurers also could benefit from access to genetic information. In the past, health insurers could use this type of information when deciding who to cover and how much to charge for insurance. But this has changed. Federal law, based on the Genetic Information Nondiscrimination Act (GINA), no longer allows health insurers to base these decisions on the results of genetic information.. Note that GINA does not restrict use of genetic information for life insurance, disability insurance, or long-term care insurance. It also does not say that health insurers must pay for any particular genetic test or treatment. Employers Employers are allowed to ask for genetic testing when it is used to monitor exposure to potentially toxic chemicals and substances in the workplace. But discrimination and employment decisions based on genetic information are barred at the national level for most employers. GINA prohibits the use of genetic information in workplace employment decisions for non-governmental organizations. For more on GINA, see the section called What are the benefits of genetic testing? What s the future of genetic testing? Without question, genetic testing will play a larger role in cancer risk assessment, detection, and treatment in the future. The Human Genome Project and The Cancer Genome Atlas The Human Genome Project was a huge undertaking in which government and private researchers mapped the entire sequence of human DNA (known as the human genome). The project took more than 10 years and was completed in Scientists now estimate that the 3 billion or so letters that make up the human genome contain about 25,000 genes. The next step is to identify these genes and learn what each one does. This basic genome map will allow researchers to identify cancer-related genes more quickly. An even larger undertaking, The Cancer Genome Atlas (TCGA), is now under way. Researchers are working to map the genes of cancer cells to try to learn how those genes are changed to produce the cancer. The TCGA uses an integrated network of hundreds of researchers across the United States and Canada to collect tissue samples from people with certain types of cancer. This project will further our understanding of the genetic basis of cancer, making genetic testing more useful in the future. Personalized treatment There are some genetic tests some available, and some still being developed that may help a doctor choose a person s medicines.
13 For example, some tests can show whether a person s cancer is likely to respond to a certain treatment based on its gene changes. Many new cancer medicines are being developed based on the known gene changes often found in cancer cells. In some cases, doctors can now test cancer cells for these gene changes to find out if the treatment is likely to be helpful. Other tests can show whether a person s body can process certain medicines normally. Tamoxifen, for instance, is a drug that can be used to reduce the risk of breast cancer coming back. But the body must make a certain enzyme to activate the drug. Some studies suggest that tamoxifen may work better in women who inherited the genes that make more of the activating enzyme. Overall, though, studies have not yet clearly proven this link. They also have not shown that people who are tested have better treatment outcomes. Right now, most doctors give tamoxifen without genetic testing, but further studies may lead to different options in the future. More is being learned all the time about the gene changes in cancer cells and about how people process drugs based on their genes. This is expected to give doctors useful information about choosing medicines in the future. Better technology At this time, genetic testing can cost a lot, and it can take several weeks to get the results. But as better technologies are developed, tests are becoming more accurate and are able to look at more than one gene at a time. DNA chip technology is one example of this. These chips allow researchers to look for changes in many different genes at the same time and analyze which genes are active. In the future, this type of DNA testing may help doctors learn a person s risk of developing different diseases. This could make it easier to customize treatment for that person. Other areas of research may impact how important genetic testing will become. One is the field known as epigenetics, which looks at ways genes are turned on and off other than just through mutations. Another is the field of proteomics, which looks at patterns of proteins in the body. (Genes are the blueprints for making proteins.) Researchers in these fields are developing tests that may someday be used along with or instead of standard genetic tests. Home-based genetic test kits Over the past few years, some genetic tests, marketed for a number of purposes, have become available as at-home kits that can be bought on the Internet. The kits include a small container to collect a saliva sample or a swab to rub inside the cheek. A few require blood, so the consumer must visit a medical facility to have it taken. Users mail the sample to a lab, where it s tested for genes related to cancer or other conditions. These tests may give some people access to genetic testing who might not otherwise have it. But while many of the companies marketing these tests make some type of genetic counseling available, there are concerns about whether people will use it (especially before buying a test). The decision to have genetic testing is complicated, and without proper background information and counseling, people might not understand the full implications of getting tested. They also may not be able to interpret their test results correctly. There are other concerns, too. According to the US Food and Drug Administration (FDA), which regulates the makers of genetic tests, some of these tests are not scientifically validated. Others
14 give results that are only useful if the person has a full medical evaluation. The FDA notes that genetic tests are very complex and they should be done in a specialized laboratory. They further recommend that the results be interpreted by a doctor or genetic counselor who understands the value of the test and how to best interpret and use the results. If you are thinking about using an at-home testing kit, talk to your doctor or a genetic counselor first. This will help you decide if such testing is right for you and help prepare you for what you might learn. You should know the pros, cons, and limits of genetic testing before you have it done. And most people will need a trained professional to help work out exactly what the results mean for them and their families. Dealing with genetic information Managing the information we get from genetic testing continues to be an important issue. Many questions about patient rights and privacy still need to be resolved, and may become even more complex in the future. Other gray areas include genetic testing of children up for adoption, testing children for diseases they might develop as adults, and prenatal testing. Both national and international legislation are needed to address these concerns. To learn more More information from your American Cancer Society We have some related information that may also be helpful to you. Free copies of these materials may be ordered from our toll-free number, , or you can read them online at Informed Consent (also in Spanish) Family Cancer Syndromes Genes and Cancer National organizations and websites* Along with the American Cancer Society, other sources of information and support include: National Society of Genetic Counselors Website: The Consumer Information link on the website offers detailed information on genetic counseling, questions to ask before genetic testing, a guide to collecting family history, info on genetic testing and genetic counselors, and a directory of genetic counselors. National Cancer Institute Toll-free number: ( CANCER) TTY: Website:
15 A listing of professionals who offer services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, and others) can be found at: Hereditary Cancer Center (HCC) Toll-free number: Website: Maintains the Early Detection Registry Network (EDRN), a nationwide registry where any carrier of a cancer genetic mutation may register to be invited to participate in appropriate research studies for their specific genetic mutation. * Inclusion on this list does not imply endorsement by the American Cancer Society. No matter who you are, we can help. Contact us anytime, day or night, for information and support. Call us at or visit References American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. J Clin Oncol. 2003;21: Cameron LD, Sherman KA, Marteau TM, Brown PM. Impact of genetic risk information and type of disease on perceived risk, anticipated affect, and expected consequences of genetic tests. Health Psychol. 2009;28: Department of Health and Human Services. GINA The Genetic Information Nondiscrimination Act of 2008 Information for Researchers and Health Care Professionals. April 6, Accessed at on October 14, Federal Trade Commission. At-Home Genetic Tests: A Healthy Dose of Skepticism May Be the Best Prescription. Accessed at on October 14, Giarelli E, Jacobs, LA. Issues related to the use of genetic material and information. Oncol Nurs Forum. 2000;27: Hudson KL, Holohan MK, Collins FS. Keeping Pace with the Times The Genetic Information Nondiscrimination Act of New Engl J Med. 2008;358: Johnson A. National Conference of State Legislatures. Plunging Into the Gene Pool. March Accessed at on October 14, Johnson KA, Rosenblum-Vos L, Petersen GM, et al. Response to genetic counseling and testing for the APC I1307K mutation. Am J Med Genet. 2000;91: Matloff ET. Genetic counseling. In: DeVita VT, Hellman S, Rosenberg SA, eds. Cancer: Principles & Practice of Oncology. 8 th ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2008: Mayo Clinic. Personalized medicine and pharmacogenomics, Accessed at on October 14, 2013.
16 National Center for Biotechnology Information (NCBI). GeneTests. Accessed at on October 19, National Conference of State Legislatures. Genetics and Health Insurance State Anti- Discrimination Laws. March Accessed at on October 14, National Institutes of Health. National Human Genome Research Institute. Genetic Testing. Accessed at on October 14, Saslow D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007;57: The Cancer Genome Atlas. Cancers Selected for Study. Accessed at on October US Department of Energy Office of Science. Human Genome Project Information Archive Accessed at on October 14, US Department of Labor. FAQs on the Genetic Information Nondiscrimination Act. Accessed at on October 14, Last Medical Review: 10/18/2013 Last Revised: 3/11/ Copyright American Cancer Society
Patient Support Guide to genetic testing for hereditary breast and ovarian cancer syndrome Testing for BRCA1 and BRCA2 is available from Quest Diagnostics. Quest Diagnostics Patient Support Guide to Genetic
CONSENT TO PARTICIPATE IN A CLINICAL RESEARCH STUDY Adult Patient or Parent, for Minor Patient INSTITUTE: National Cancer Institute PRINCIPAL INVESTIGATOR: Raffit Hassan, M.D. STUDY TITLE: Tissue Procurement
The Facts Breast cancer affects 1 in 8 women in the United States. Hereditary breast cancer accounts for approximately 5-10% of these breast cancers. Most cases of breast cancer are sporadic. Ovarian cancer
ESSENTIALS Lynch Syndrome Understanding Lynch Syndrome Certain cancers can run in families. Sometimes this happens because of harmful changes (called mutations) in our genes that are passed from one generation
The University of Texas Southwestern Medical Center at Dallas Retina Foundation of the Southwest CONSENT TO PARTICIPATE IN RESEARCH Title of Research: Funding Agency/Sponsor: Study Doctors: Research Personnel:
How does genetic testing work? What is a genetic test? A genetic test looks at to find changes (variants) that cause disease or put you at greater risk to develop disease. DNA is the code our bodies use
Understanding Hereditary Breast and Ovarian Cancer Maritime Hereditary Cancer Service General Information Cancer is very common. About one in three (33%) people are diagnosed with some form of cancer during
ESSENTIALS BRCA1/BRCA2 Mutations What s In Your Genes: How changes in the BRCA1/BRCA2 genes might affect you and your family Our genes contain the codes for producing the proteins that are the building
if your family has a history OF CANCER. put it to the test. Learn about your risk for hereditary and ovarian and how you can reduce it. do you have a family history of Breast or Ovarian Cancer? what does
Patient Information Genetic Testing for Childhood Hearing Loss Introduction This document describes the most common genetic cause of childhood hearing loss and explains the role of genetic testing. Childhood
BRCA1 & BRCA2: Genetic testing for hereditary breast and ovarian cancer patient guide What is Hereditary? Breast cancer is the most common cancer in women in the U.S. (it affects about 1 in 8 women). Ovarian
Breast cancer and genetics Cancer and genes Our bodies are made up of millions of cells. Each cell contains a complete set of genes. We have thousands of genes. We each inherit two copies of most genes,
Cancer Genomics: What Does It Mean for You? The Connection Between Cancer and DNA One person dies from cancer each minute in the United States. That s 1,500 deaths each day. As the population ages, this
BRCA1 & BRCA2 GeneHealth UK BRCA1 & BRCA2 What is hereditary breast cancer? Cancer is unfortunately very common, with 1 in 3 people developing cancer at some point in their lifetime. Breast cancer occurs
Impact of Breast Cancer Genetic Testing on Insurance Issues Prepared by the Health Research Unit September 1999 Introduction The discoveries of BRCA1 and BRCA2, two cancer-susceptibility genes, raise serious
About 1 in 500 infants is born with or develops hearing loss during early childhood. Hearing loss has many causes: some are genetic (that is, caused by a baby s genes) or non-genetic (such as certain infections
Lesson Plan: Genetic Testing and Hereditary Cancer OVERVIEW This lesson plan is designed to be used with the film In the Family, which explores issues related to genetic testing and the difficult decisions
Genetic Testing and Breast Cancer: Is a Little Knowledge a Dangerous Thing? by Charlotte R. Zales, Education Department, Moravian College, Bethlehem, PA and Joseph C. Colosi, Biology Department, DeSales
Questions to Ask My Doctor Being told you have cancer can be scary and stressful. You probably have a lot of questions and concerns. Learning about the disease, how it s treated, and how this information
FAMILY HISTORY SERVICES Your guide to UK services for people with a family history of breast cancer About Breakthrough Breakthrough Breast Cancer is a pioneering charity dedicated to the prevention, treatment
Discovering the possibility of BRCA1 and BRCA2 screening gave me real information so I could make educated decisions about my future and my family s future. CAN MY RESULTS AFFECT MY EMPLOYMENT OR HEALTH
Ovarian Cancer Genetic Testing: Why, When, How? Jeffrey Dungan, MD Associate Professor Division of Clinical Genetics Department of Obstetrics & Gynecology Northwestern University Feinberg School of Medicine
LIVE LIFE EMPOWERED What you should know about genes and cancer People with cancer often wonder what caused the disease. Relatives of people with cancer often are concerned that they may be at increased
HEREDITARY BREAST CANCER BRCA1 Faulty gene INFORMATION LEAFLET How Do I Reduce My Risk? Page 1 CONTENTS Part A 1 What is BRCA1 2 How does BRCA1 affect a person s risk of cancer? 3Testing for BRCA1 4Benefits
Inside How accurate are the tests? 2 How useful are the tests? 2 What can Direct-to-Consumer DNA genetic tests tell me? 2 What happens to my personal information? 3 What protections are there in Australia?
Over-the-counter Genetic Susceptibility Tests Information for individuals, families and non-specialist health professionals Over-the-counter Genetic Susceptibility Tests In recent years, there has been
Human Research Protection Program University of California, San Diego ISSUES ON DNA AND INFORMED CONSENT Regulatory changes will occur for investigators studying human DNA The recent acceleration and widening
Clinical Trials: Questions and Answers Key Points Clinical trials are research studies that test how well new medical approaches work in people (see Question 1). Every clinical trial has a protocol, which
ScreenWise Breast, Cervical, and Hereditary Cancer Screenings OCTOBER 28, 2015 ScreenWise Three programs working together to bring quality screening services to Oregon residents Why we all do this work
Clinical Trials Clinical Trials This brochure is for people making decisions about cancer treatment. You may be thinking about a clinical trial for you or your child but need to know more before you decide.
CLINICAL TRIALS Clinical Trials: Improving the Care of People Living With Cancer Presented by Mary McCabe, RN, MA Memorial Sloan-Kettering Cancer Center Carolyn Messner, DSW CancerCare Learn about: Stages
Slide 1 Breast Cancer American Cancer Society Reviewed October 2015 Slide 2 What we ll be talking about How common is breast cancer? What is breast cancer? What causes it? What are the risk factors? Can
Colon and Rectal Cancer What is colon or rectal cancer? Colon or rectal cancer is the growth of abnormal cells in your large intestine, which is also called the large bowel. The colon is the last 5 feet
Oxford University Hospitals NHS Trust Oxford Regional Genetic Department Hereditary Breast and Ovarian Cancer (HBOC) Information for women with an increased lifetime risk of breast and ovarian cancer What
PREAMBLE Although the first draft of the human genome was unveiled less than a decade ago, genetic information is fast becoming integrated into the everyday flow of data that impacts not only human health
Marrying a relative Is there an increased chance that a child will have genetic problems if its parents are related to each other? The simple answer to this question is Yes, there is an increased chance.
The Liver and Alpha-1 Antitrypsin Deficiency (Alpha-1) 1 ALPHA-1 FOUNDATION What Is Alpha-1 Antitrypsin Deficiency? Alpha-1 is a condition that may result in serious lung disease in adults and/or liver
Information for Clients Welcome to Sterman Counseling and Assessment. We appreciate the opportunity to be of assistance to you. This packet answers some questions about therapy services. It is important
Long QT Syndrome Genetic Testing for Inherited Arrhythmias patient guide What is Long QT Syndrome? Arrhythmias are problems with the electrical system in the heart that controls the heartbeat s regular
Genes for Good Consent Form Version 2.1 The next few screens contain information about Genes for Good and the benefits and risks of participating. This is called "informed consent", because we want you
P A T I E N T G U I D E Hereditary Breast Cancer Panels High Risk Hereditary Breast Cancer Panel Hereditary Breast/Ovarian/Endometrial Cancer Panel B a y l o r M i r a c a G e n e t i c s L a b o r a t
Genetic Testing: Scientific Background for Policymakers Amanda K. Sarata Specialist in Health Policy December 19, 2011 CRS Report for Congress Prepared for Members and Committees of Congress Congressional
ESSENTIALS Breast Cancer Take things one step at a time. Try not to be overwhelmed by the tidal wave of technical information coming your way. Finally you know your body best; you have to be your own advocate.
Office for Human Research Protections (OHRP) Department of Health and Human Services (HHS) Guidance on the Genetic Information Nondiscrimination Act: Implications for Investigators and Institutional Review
patient guide CancerNext TM - A Genetic Test for Hereditary Cancer What is hereditary cancer? Cancer affects many people in the U.S. more than 1.6 million people are estimated to be diagnosed with cancer
Advice about familial aspects of breast cancer and epithelial ovarian cancer a guide for health professionals DECEMBER 2010 This guide has three parts: 1. Information for health professionals 2. Tables
Prostate Cancer Screening A Decision Guide for African Americans This booklet was developed by the U.S. Department of Health and Human Services, Centers for Disease Control and Prevention (CDC). Published
Perception Life insurance and By Arnold A. Dicke Genetic science is, if anything, less understood than life insurance. As genetic tools enter everyday medical practice, incorrect perceptions need to be
Preimplantation Genetic Diagnosis Evaluation for single gene disorders What is Preimplantation Genetic Diagnosis? Preimplantation genetic diagnosis or PGD is a technology that allows genetic testing of
Gene Therapy and Genetic Counseling Chapter 20 What is Gene Therapy? Treating a disease by replacing, manipulating or supplementing a gene The act of changing an individual s DNA sequence to fix a non-functional
Legal Issues for People with HIV Duke Legal Project Box 90360 Durham, NC 27708-0360 (919) 613-7169 (888) 600-7274 Duke Legal Project is a clinical legal education program of Duke Law School. Legal Representation
6 Genetic testing The difference diagnostics can make The British In Vitro Diagnostics Association Genetic INTRODUCTION testing The Department of Health published Our Inheritance, Our Future - Realising
Clinical Trials: What You Need to Know Clinical trials are studies in which people volunteer to test new drugs or devices. Doctors use clinical trials to learn whether a new treatment works and is safe
Am I an Alpha-1 Carrier? 1 ALPHA-1 FOUNDATION The Alpha-1 Foundation is committed to finding a cure for Alpha-1 Antitrypsin Deficiency and to improving the lives of people affected by Alpha-1 worldwide.
Questions to Ask My Doctor Being told you have breast cancer can be scary and stressful. You probably have a lot of questions and concerns. Learning about the disease, how it s treated, and how this information
Understanding Your Risk of Ovarian Cancer A WOMAN S GUIDE This brochure is made possible through partnership support from Project Hope for Ovarian Cancer Research and Education. Project HOPE FOR OVARIAN
12.1 The Role of DNA in Heredity Only in the last 50 years have scientists understood the role of DNA in heredity. That understanding began with the discovery of DNA s structure. In 1952, Rosalind Franklin
65 Chapter 7 Insurance Introduction 7.1 The subject of genetic screening in relation to insurance is not new. In 1935 R A Fisher addressed the International Congress of Life Assurance Medicine on the topic,
What is Cancer? Normal Growth The human body is made up of many millions of tiny building blocks called cells. Each organ of the body (eg. brain, liver, muscle) contains its own special types of cells,
Carrier detection tests and prenatal diagnosis There are several types of muscular dystrophy and about 50 neuromuscular conditions, all of which fall under the umbrella of the Muscular Dystrophy Campaign.
APPENDIX B SAMPLE INFORMED CONSENT FORM B.1 INFORMED CONSENT TO PARTICIPATE IN A RESEARCH STUDY Umbilical Cord Blood Banking for Transplantation You are being asked to take part in a research study that
X-Plain Chemotherapy for Breast Cancer - Adriamycin, Cytoxan, and Tamoxifen Reference Summary Introduction Breast cancer is a common condition that affects one out of every 11 women. Your doctor has recommended
Cornell University Program on Breast Cancer and Environmental Risk Factors in New York State (BCERF) July 2003 Family History, Inheritance, and Breast Cancer Risk All breast cancer results from multiple
Usher Syndrome Genetics October 2012 Page 1 of 20 Introduction Usher syndrome is a genetic or inherited condition that affects hearing, vision and balance The sight loss is caused by an eye condition known
Coalition for Genetic Fairness Response to Request for Information Sections 101 Through 104 of the Genetic Information Nondiscrimination Act of 2008 The following comments respond to the Request for Information
CHAPTER 2: UNDERSTANDING CANCER INTRODUCTION We are witnessing an era of great discovery in the field of cancer research. New insights into the causes and development of cancer are emerging. These discoveries
Testing for Prostate Cancer Should I be tested? Is it the right choice for me? Prostate cancer affects many men. There are tests to find it early. There may be benefits and risks with testing. Research
Important Information for Parents about the Newborn Screening Test Newborn Screening Branch Genetic Disease Screening Program http://cdph.ca.gov/nbs California Department of Public Health Publication Date:
Breast Cancer s Link to Ovarian Cancer: It s in Your Genes foundationforwomenscancer.org There are now more than 2.6 million women in America who have been diagnosed with breast cancer. A very small fraction
Duchenne muscular dystrophy (DMD) What is Duchenne muscular dystrophy or DMD? Muscular Dystrophy is a group of inherited muscle disorders, in which muscles weaken over time. Duchenne muscular dystrophy
The Genetics of Early- Onset Breast Cancer Cecelia Bellcross, Ph.D., M.S.,C.G.C. Department of Human Genetics Emory University School of Medicine All cancers are genetic BUT Not all cancers are hereditary
Cord Blood Program Northwest Tissue Center/Puget Sound Blood Center 921 Terry Avenue Seattle, WA 98104 (206) 292-1896 Swedish Medical Center 747 Broadway Seattle, WA 98122 (206) 386-6000 CONSENT FORM Cord
A Patient s Guide to Hereditary Cancer Is Hereditary Cancer Testing Right for You? What is Hereditary Cancer? Most cancers occur in people who do not have a strong family history of that cancer. This is
Juvenile Onset HD Family Guide Series Reviewed by: Randi Jones, Ph.D. HDSA Center of Excellence Emory University Atlanta, GA Ami Rosen, CGC HDSA Center of Excellence Emory University Atlanta, GA Contents
Hereditary Cancer Risk Assessment Ms. Róisín Clarke Cancer Genetics Service St. James s Hospital 05/03/2013 What is hereditary cancer? Who is at high risk for hereditary cancer? Hereditary cancers account
PROVIDER POLICIES & PROCEDURES BRCA GENETIC TESTING The purpose of this document is to provide guidance to providers enrolled in the Connecticut Medical Assistance Program (CMAP) on the requirements for
For more infomation about Cancer Clinical Trials at Upstate Cancer Center please call Upstate Connect 1.800.464.8668 TAKING PART IN CANCER TREATMENT RESEARCH STUDIES Information provided by: National Cancer
GENETIC CONSIDERATIONS IN CANCER TREATMENT AND SURVIVORSHIP WHO IS AT HIGH RISK OF HEREDITARY CANCER? Hereditary Cancer accounts for a small proportion of all cancer or approximately 5-10% THE DEVELOPMENT
2006, American Cancer Society, Inc. No. 243900 Rev.01/08 The American Cancer Society is the nationwide community-based voluntary health organization dedicated to eliminating cancer as a major health problem
Consent Form: Example 2 (DNA Sequencing) Important note: This model language was developed for the NHGRI Medical Sequencing Project (MSP). It is included here only as an example of how to describe a sequencing