Genetic testing helps estimate your chance of developing cancer in your lifetime. It does this by searching for specific changes in your genes, chromosomes, or proteins. These changes are called mutations. Show Genetic tests are available for some types of cancer. These include:
Genetic testing may help:
No genetic test can say if you will develop cancer for sure. But it can tell you if you have a higher risk than most people. Only some people with a gene mutation will develop cancer. What does this mean? A woman may have a 45% to 65% chance of breast cancer. But she may never develop the disease. Meanwhile, a woman with a 25% chance may develop breast cancer. Risk factors for hereditary cancerA hereditary cancer is any cancer caused by an inherited gene mutation. An inherited gene means it is passed from parent to child within a family. The following factors suggest a possible increased risk for hereditary cancer: Family history of cancer. Having 3 or more relatives on the same side of the family with the same or related forms of cancer. Cancer at an early age. Having 2 or more relatives diagnosed with cancer at an early age. This factor may differ depending on the type of cancer. Multiple cancers. When one relative develops 2 or more types of cancer. Rare cancers. Some types of cancer, such as ovarian cancer, adrenocortical cancer, or sarcoma, are linked to inherited genetic mutations. Reasons to consider genetic testing for cancerGenetic testing is a personal decision made for different reasons. It is also a complex decision best made after talking with your family, health care team, and genetic counselor. ASCO recommends considering genetic testing in the following situations:
ASCO also recommends genetic counseling before and after genetic testing. Learn more about these recommendations on genetic testing for cancer susceptibility on a separate ASCO website. Other factors to considerGenetic testing has limitations and emotional implications. These may include: Depression, anxiety, or guilt. A positive test result means a gene mutation exists. This result may bring difficult emotions. Some people may think of themselves as sick, even if they never develop cancer. Negative test results may also cause difficult emotions. For example, some people may experience guilt if they do not have a gene mutation that other family members have. Family tension. People are generally encouraged to tell family members about test results because they can be important for the health of family members. But this information could also complicate family dynamics. Learn more about sharing genetic test results with your family. A false sense of security. A negative result means a specific genetic mutation is not present. But people with negative results may still develop cancer. A negative result only means the person’s risk is average. Each person’s risk for cancer is also affected by other factors. For example, lifestyle, environmental exposure, and medical history. Unclear results. A gene may have a mutation not linked with cancer risk. This is called a variant of unknown significance. It means that it is unclear whether the mutation will increase risk. Or people may have mutations that current tests cannot find. Many cancers are not yet tied to specific gene mutations. Also, some genes may interact unpredictably with other genes or environmental factors. And these interactions may cause cancer. So it may be impossible to calculate the cancer risk. High cost. Genetic testing can be expensive. It is particularly expensive if health insurance does not pay for it. Discrimination and privacy concerns. Some people fear genetic discrimination from test results. Others worry about the privacy of their genetic information. The Genetic Information Nondiscrimination Act (GINA) protects against employment and health insurance discrimination. Discuss related concerns with a genetic counselor or doctor. Questions to ask yourself about genetic testingBefore having genetic testing, learn about its risks and limitations. Identify your reasons for wanting a test. And consider how you will cope with test results. Here are some questions to help you make a decision: Confidentiality is meant to encourage the free flow of information between patient and physician so that the patient's sickness may be adequately treated. The protection of confidentiality is also justified as a public health matter, since ill people may not seek medical services in the first place if confidentiality is not protected. As a legal matter, confidentiality is generally protected in the doctor-patient relationship. However, genetic testing may not always occur within a doctor-patient relationship: a non-M.D. scientist may undertake the testing, or screening may occur in the employment setting. Moreover, it is not just the result of the test that raises concern about confidentiality. The sample itself may be stored (as in DNA banking or family linkage studies) for future use. Genetic information is unlike other medical information. It reveals not only potential disease or other risks to the patient, but also information about potential risks to the person's children and blood relatives. The fact that geneticists may wish to protect third parties from harm by breaching confidentiality and disclosing risks to relatives is evidenced in the study by Wertz and Fletcher, cited earlier, in which half of the geneticists surveyed would disclose information to relatives over a patient's refusal. The geneticist's desire to disclose is based on the idea that the information will help the relative avoid harm. Yet this study indicated that about the same number of geneticists would disclose to the relative when the disorder was untreatable as when the disorder was treatable (53 percent would contact a relative about the risk of Huntington disease; 54 percent about the risk of hemophilia A). Since most people at risk for Huntington disease have not chosen testing to see if they have the genetic marker for the disorder,67 geneticists may be overestimating the relative's desire for genetic information and infringing upon the relative's right not to know. They may be causing psychological harm if they provide surprising or unwanted information for which there is no beneficial action the relative can take. In the legal realm, there is an exception to confidentiality: A physician may in certain instances breach confidentiality in order to protect third parties from harm, for example, when the patient might transmit a contagious disease68 or commit violence against an identifiable individual.69 In a landmark California case, for example, a psychiatrist was found to have a duty to warn the potential victim that his patient planned to kill her.70 The principle of protecting third parties from serious harm might also be used to allow disclosure to an employer when an employee's medical condition could create a risk to the public. In one case, the results of an employee's blood test for alcohol were given to his employer.71 The court held the disclosure was not actionable because the state did not have a statute protecting confidentiality, but the court also noted that public policy would favor disclosure in this instance since the plaintiff was an engineer who controlled a railroad passenger train. An argument could be made that health care professionals working in the medical genetics field have disclosure obligations similar to those of the physician whose patient suffers from an infectious disease or a psychotherapist with a potentially violent patient. Because of the heritable nature of genetic diseases, a health professional who—through research, counseling, examination, testing, or treatment—gains knowledge about an individual's genetic status often has information that would be of value not only to the patient, but to his or her spouse or relatives, as well as to insurers, employers, and others. A counterargument could be made, however, that since the health professional is not in a professional relationship with the relative and the patient will not be harming the relative (unlike in the case of violence or infectious diseases), there should be no duty to warn. The claims of the third parties to information, in breach of the fundamental principle of confidentiality, need to be analyzed, as indicated earlier, by assessing how serious the potential harm is, whether disclosure is the best way to avert the harm, and what the risk of disclosure might be. The genetic testing of a spouse can give rise to information that is of interest to the other spouse. In the vast majority of situations, the tested individual will share that information with the other spouse. In rare instances, the information will not be disclosed and the health care provider will be faced with the issue of whether to breach confidentiality. When a married individual is diagnosed as having the allele for a serious recessive disorder, the spouse might claim that the health care provider has a duty to share that information with him or her to facilitate reproductive decision making. 72 A few court cases have allowed physicians to disclose medical information about an individual in order to protect a spouse or potential spouse. 73 The foundation for this approach is laid by cases allowing disclosure of communicable diseases.74 In situations such as disclosure of information about venereal disease or AIDS, the argument is made that sacrificing confidentiality, by notifying spouses and lovers, is necessary for public health and welfare, and is essential as a warning to seriously endangered third parties where the risk of transmission is high. Since genetic disorders are not communicable to the spouse, a counter argument could be made that there is no legitimate reason for disclosing them. However, the spouse might have a great interest in the genetic information because he or she would like to protect any potential children from risk. Consider the case of a doctor who learns that a young man will later suffer from Huntington disease. The wife would appear to have at least some claim to that information since, if she and her husband have children, there will be a 50 percent chance that each child would inherit the disease. Similarly, each spouse would seem to have a claim to the information that the other was a carrier of a single gene for a recessive defect. Because of the importance of reproductive decisions, such information is crucial to the spouse. Another instance in which genetic risk information arises in the marriage context is through prenatal screening. A fetus may be found to have an autosomal recessive disorder, which occurs only if both parents transmit the particular gene. If, in the course of prenatal diagnosis, it is learned that the mother is a carrier of the gene but her husband is not, the health care professional has knowledge that the husband is almost certainly not the father of the child. A claim could be made that the health care professional has a duty, or at least a right, to advise the husband of his misattributed paternity, so that he will know that any future children he has will not be at risk for that particular disorder. On the other hand, an argument could be made that spouses should not be entitled to genetic risk information about a patient, even if it is arguably relevant to their future reproductive plans.75 The right of reproductive decision making is viewed as the right of the individual.76 The U.S. Supreme Court has held that a woman can abort without her husband's consent even if this will interfere with her husband's reproductive plans.77 More recently, the U.S. Supreme Court held that a husband was not even entitled to notice that his wife intends to abort.78 The court expressed concerns that the husband might react to the disclosure with violence, with threats to withhold economic support, or with psychological coercion.79 Similar reactions could occur with information about misattributed paternity, particularly because the primary purpose of the testing was not to get paternity information. Blood relatives of the patient may have a more convincing claim than spouses for requiring that health care providers breach confidentiality. They could argue that the information about genetic risks or the availability of genetic testing may be relevant to their own future health care.80 The strongest case for a warning would exist when there is a high likelihood that the relative has the genetic defect, the defect presents a serious risk to the relative, and there is reason to believe that the disclosure is necessary to prevent serious harm (e.g., by allowing for treatment or by warning the person to avoid harmful environmental stimuli). Malignant hyperthermia is an autosomal dominant genetic condition causing a fatal reaction to common anesthesia. Prompt warning of families can literally save lives, especially from death due to minor surgeries such as setting broken bones in children. If the patient does not want to inform relatives, however, questions arise as to whether the health care provider or counselor should contact the relative over the patient's refusal. The President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research (1983) recommended that disclosure be made only if (1) reasonable attempts to elicit voluntary disclosure are unsuccessful; (2) there is a high probability of serious (e.g., irreversible or fatal) harm to an identifiable relative; (3) there is reason to believe that disclosure of the information will prevent harm to the relative; and (4) the disclosure is limited to the information necessary for diagnosis or treatment of the relative.81 Even in the more compelling situation of disclosure to relatives, the health care provider is not in a professional relationship with the relative, and previous legal cases regarding a duty to provide genetic information have all involved a health care provider in a professional relationship with the person to be informed. Although infectious disease cases provide a precedent for warning strangers about potential risks,82 genetic diseases are simply different from infectious diseases. The only potential argument that the health care professional could make for contacting the relative is that through diagnosis of the patient, the health care professional has reason to believe that the relative is at higher risk than the general population of being affected by a genetic disorder. If disorders are highly likely and are treatable or preventable, many medical geneticists would overrule a patient's refusal to disclose, and would inform a relative. Although there may be no legal obligation to single out relatives as creating a special duty for physicians, the knowledge that a defined, unknowing relative is at high risk for a serious or life-threatening, treatable disease may allow rare exceptions to the principle of confidentiality. Many entities may have an interest in learning about people's genetic information. Insurers, employers, bankers, mortgage companies, educational loan officers, providers of medical services, and others have an interest in knowing about a person's future health status. Already, people have been denied insurance, employment, and loans based on their genotype. Such discrimination has occurred both when the information has been obtained through genetic testing and when the information has been obtained in other ways (e.g., inadvertent release of a relative's medical record or disclosure from payment for medical service for a child).83 In the future, third parties may want access to genetic information or may wish to mandate genetic testing. In child custody cases, one spouse may claim that the other spouse should not get custody because of his or her genetic profile, for example, when the latter person has the gene for a serious, untreatable lateonset disorder. Professional schools (such as medical schools or law schools) may wish to deny admission to someone with such a disorder on the theory that such a person will have a shortened practice span. Insurers underwriting individual health insurance currently use medical information to determine whether coverage should be granted and to determine how to price a particular policy. According to the Office of Technology Assessment, each year about 164,000 applicants are denied individual health insurance.84 Far more Americans are covered by group plans—85 to 90 percent—with about 68 percent85 covered by employment-based group plans rather than by individual plans. Although medical underwriting is not generally done as part of large employers' group policies, medical information is sometimes used against people in other ways in that context. People with medical problems or whose family members have medical problems have been refused jobs because employers do not want their insurance premiums increased due to payments for the care of the employee or the employee's family members. In addition, employers that self-insure may choose to restrict coverage under their insurance plans so as not to pay for care for existing employees. One major airline already permanently excludes coverage for preexisting conditions for new employees.86 Other employers have curtailed plan benefits once an employee has been diagnosed as having a particular disorder. In McGann v. H. & H. Music Co., for example, a man was covered by employer-provided commercial insurance that had a million dollar medical benefit maximum.87 Once the employee was diagnosed as having AIDS, however, the employer switched to self-insurance and established a $5,000 limitation for AIDS, while keeping the million dollar cap for other disorders. The court held that an employer who is self-insured could modify its plan in this way—an ominous decision when one considers that at least 65 percent of all companies and 82 percent of companies with more than 5,000 employees are self-insured. 88 The U.S. Supreme Court decided not to hear the case and let stand the lower court's decision. Employees who are covered by their employers' self-insurance are thus in a precarious position, akin to having no insurance at all:
This is particularly true, given that many people choose jobs because of the health benefits.90 The Equal Employment Opportunity Commission is reportedly endeavoring to use the Americans with Disabilities Act to challenge companies' practices of setting caps on health insurance payouts for employees with AIDS.91 The advent of genetic testing, as well as the increasing identification of genetic diseases, makes genetic information, like other medical information, available for use as a basis for medical underwriting in health insurance. The danger, according to one study, is that "genetic testing made possible as we continue to map the human genome may result in many more individuals being denied private insurance coverage than ever before."92 Genetic tests are not necessary to find out genetic information on applicants. Insurers already obtain genetic information from medically underwritten applicants through family histories and laboratory tests (e.g., cholesterol levels). This was of as much concern to the committee as the use of genetic information from other sources. Although insurers generally do not perform or require genetic tests when doing medical underwriting, they may seek to learn the results of any genetic tests from which an applicant may have information. This could deter people from seeking these tests. The existence of medical underwriting can lead people to avoid needed medical services:
A survey of insurers undertaken by the Office of Technology Assessment (OTA) of the U.S. Congress found that insurers see a role for genetic information in medical underwriting. OTA surveyed commercial insurers, Blue Cross and Blue Shield companies, and large health maintenance organizations, which offered individual and medically underwritten small-group health insurance coverage. Data were gathered on underwriting practices, including requirements for diagnostic tests or physical examinations before an insurance policy can be issued. Data on reimbursement practices, as well as general attitudes toward genetic testing, were also obtained. Insurers generally believed that it was fair for them to use genetic tests to identify those at increased risk of disease; slightly more than one-fourth of medical directors indicated that they disagreed somewhat that such use was fair. Three-quarters of the responding companies said they thought "an insurer should have the option of determining how to use genetic information in determining risk."94 OTA's survey of insurers found that genetic information is not viewed as a special type of information.95 What seems important to insurers when making insurability and rating decisions is the particular condition, not that the condition is genetically based. OTA found that the majority of insurers did not anticipate using specific genetic tests in the future. However, a majority of medical directors from commercial insurers agreed with the statement that "it's fair for insurers to use genetic tests to identify individuals with increased risk of disease." In a comparison survey, OTA found that 14 percent of responding genetic counselors reported that they had clients who had experienced difficulties obtaining or retaining health care coverage as a result of genetic testing. Surveys by Paul Billings and colleagues,96 as well as by the Office of Technology Assessment,97 uncovered specific examples of people being denied health insurance coverage based on their genotype. These incidents include cases in which a person with a positive test for a genetic disorder had his or her insurance canceled or "rated up" as a result;98 where genetic disorders such as alpha-antitrypsin were defined as preexisting conditions, thus excluding payment for therapy; where a particular genetic condition resulted in exclusion from maternity coverage;99 and where the birth of a child affected with a serious recessive disorder led to the inability of the parents and unaffected siblings to obtain insurance.100 Genetic information provides serious challenges to the traditional operation of insurance. Health insurance in this country is premised on the notion that risks can be predicted on a population-wide basis, but not well on an individual basis; thus insurance becomes a mechanism for spreading risks. If, through genetic testing or the use of genetic information acquired by other means, insurers can learn of people's actual future health risks (e.g., the risk of a serious late-onset disorder), the benefit of risk spreading will be lost; the individual will be changed an amount equal to future medical costs, which may in some cases make insurance prohibitively expensive. Currently it is permissible in most states to do medical underwriting based on genetic information. However, the expansion of genetic testing presents a serious challenge to medical underwriting and could lead to an alternative policy approach in which medical underwriting is eliminated altogether. Originally, health insurance was based on health risks for entire communities, known as community rating, rather than on individual rating of health risks or conditions. Insurers gradually began to offer lower rates to employers based on the generally better health and lower risks of employed persons, and competition ensued among insurers to insure the "best" (i.e., lowest) risks. This has led to many of the problems in our current health insurance system in which some people have become permanently uninsurable.101 In a system of community rating,
Rochester, New York has had a successful system of community rating; a key factor in its success has been the belief of large employers who would normally self-insure that their participation in a system that emphasizes risk sharing and collective strategies to contain costs, results in a system that will keep costs lower over the long term than they would be in a segmented, risk-rated competitive health insurance market.103 The states of Maine and New York have recently passed legislation requiring health insurers offering policies in their states to return to community rating by 1993.104 Several other states have introduced legislation to protect people from discrimination based on their genotype. In addition, more general antidiscrimination laws may provide some remedy for people who are discriminated against because of their genotype. Much of this legislation has been a direct response to the debacle in the early 1970s with respect to sickle cell screening. When mandatory sickle cell screening laws were adopted, some insurers and employers began making decisions about insurance coverage and employment opportunities based on the results of the testing. In particular, carriers of sickle cell trait were denied jobs and charged higher insurance rates without evidence that possession of the trait placed a person at a higher risk of illness or death.105 As a result, some states have adopted laws protecting people with sickle cell trait. At least two states prohibit denying an individual life insurance106 or disability insurance, 107 or charging a higher premium,108 solely because the individual has sickle cell trait. A few states have similarly adopted statutes to prohibit mandatory sickle cell screening as a condition of employment, 109 to prohibit discrimination in employment against people with sickle cell trait,110 and to prohibit discrimination by unions against people with sickle trait.111 More recently, some states have adopted laws with a broader scope. A California statute prohibits discrimination by insurance companies against people who carry a gene that has no adverse effects on the carrier, but may affect his or her offspring.112 Under a Wisconsin law,113 insurers are prohibited from requiring that applicants undergo DNA testing to determine the presence of a genetic disease or disorder, or the individual's predisposition for a particular disease or disorder. Nor may insurers ask whether the individual has had a DNA test or what the results of the test were. Insurers are also prohibited from using DNA test results to determine rates or other aspects of coverage. However, insurance discrimination based on genetic information not obtained through DNA testing is not forbidden by the law. There is also much concern about the use of genetic information in the employment context. The Council of Ethical and Judicial Affairs of the American Medical Association has taken the position that it is inappropriate for employers to perform genetic tests to exclude workers from jobs. 114 The opinion acknowledges that the protection of public safety is an important rationale for medical tests of employees. However, the opinion states:
The opinion points out that capacity testing is more appropriate because it would not cause discrimination against someone who has the gene for a disorder but who is totally asymptomatic, yet it would "detect those whose incapacity would not be detected by genetic tests, either because of a false-negative test result or because the incapacity is caused by something other than the disease being tested for."116 In the employment context, a New Jersey law prohibits employment discrimination based on an "atypical hereditary cellular or blood trait."117 In New York, a statute prohibits genetic discrimination based on sickle cell trait, Tay-Sachs trait, or Cooley anemia (beta-thalassemia) trait.118 In Oregon, Wisconsin, and Iowa, even more comprehensive laws prohibit genetic screening as a condition of employment.119 At the federal level, it is still an open question whether the Americans with Disabilities Act (ADA)120 will provide adequate protection against genetic discrimination. There are three definitions of persons considered to have a disability and, therefore, protected under the statute. Individuals currently with a disability comprise the first group, persons with a history of a disability comprise the second group, and persons who have the appearance of being disabled constitute the third. This later category should protect carriers of genetic disease who are themselves healthy but could be refused employment because they have a high risk of giving birth to a child with a genetic disorder that might be expensive in insurance or health care costs to the employer. This third category for those with the appearance of disability should also protect persons with an increased risk of disease due to genetic susceptibility to breast cancer, or who have a gene for a late-onset disorder such as Huntington disease. The NIH-DOE Joint Working Group on Ethical, Legal, and Social Implications (ELSI) of the Human Genome Project petitioned the Equal Employment Opportunity Commission (EEOC), which is responsible for implementing the law. ELSI requested that the EEOC broaden its proposed rulemaking to include these protections related to genetic testing and genetic disorders, or susceptibility to a genetic disorder. However, according to an interpretation by the EEOC, the act does not protect carriers of genetic diseases who are themselves healthy but could be refused employment because they have a 25 percent risk of giving birth to a child with a genetic disorder. Also, the EEOC does not view a person with an increased risk of disease due to genetic factors, or who has the gene for a late-onset disorder such as Huntington disease, as having a disability and thus being protected by the law. Legislation has been introduced to extend the definition of disability to a "genetic or medically identified potential of, or predisposition toward, a physical or mental impairment that substantially limits a major life activity."121 Another limitation of the ADA is that it allows employers to request any type of medical testing on an employee after a conditional offer of employment is made. In contrast, statutes in 11 states limit such testing to that which is job related.122 There may in fact be a narrow set of circumstances in which genetic testing may be appropriate to determine a person's ability to undertake a particular job. For example, a person with an active seizure disorder might be excluded from a job in which he or she could cause serious harm. Such a possibility would seem to be appropriate only if the potential harm were serious and screening were the most appropriate way to avert the harm. The committee was concerned, however, that employers might confuse having the gene for, or a genetic predisposition to, a particular disorder with currently being symptomatic. The possibility that someone, later in life, might become incapable of doing a job does not provide a sufficient rationale for not letting him or her undertake the job at the current time. Consequently, in most situations, periodic medical screening for symptoms rather than genetic screening will be a more appropriate means of determining whether an employee presents a serious risk of harm to third parties.123 |
In which of the following scenarios would the use of genetic screening not be beneficial
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