| Review of Guidelines for Pre-test and Post-test Education and Counseling of the National Society of Genetic Counselors and Other Organizations NOTE: This is a revised version of Council on Scientific Affairs Report 7, presented at the 1999 AMA Annual Meeting; it represents the medical/scientific literature on this subject as of June 1999. Full Text Since the gene responsible for Huntington disease (HD) was localized to chromosome 4 in 1983 and described more fully in 1993, it has become the paradigm of gene testing for adult-onset disorders.1 The National Society of Genetic Counselors (NSGC) guidelines2 were informed by the experience of HD predisposition testing as well as other complex disorders.1-12 In this report, application of NSGC guidelines is evaluated using the current available testing for the 2 breast cancer genes, BRCA1/2, and the gene for HD as examples. This comparison illustrates the different types of genetic adult-onset diseases, as well as the challenges and difficulties facing clinicians/health care providers.13-14 Methods Literature review using the MEDLINE database for 1993 to 1999 on the terms genetic testing, adult-onset disease, predictive testing, Huntington disease, breast/ovarian cancer, and genetic testing. Genetics laboratories and research scientists were contacted about current laboratory protocol. Introduction to the Position Paper of the NSGC The availability of predisposition genetic testing raises complicated issues. The goal of the Position Paper of the NSGC,2 which focuses on predisposition genetic testing for inherited late-onset genetic disorders in adults, is to: (1) educate clinicians regarding the complexity of predisposition genetic testing for adult-onset disorders; and (2) increase clinicians' awareness that persons seeking such testing need appropriate pre-test education, genetic counseling, and post-test follow-up care. Given the complex nature of predisposition genetic testing, the NSGC strongly recommends that professionals offering such testing adhere to the 4 major points of their guidelines2: (1) A multidisciplinary approach to caring for each patient; (2) Pretest education and genetic counseling: Obtain a family history; confirm diagnosis; use a client-centered approach; review the natural history of the condition; discuss the predictive value of the test; discuss the risks, benefits, and limitations of testing; explore motives for requesting testing; discuss readiness for testing and address psychosocial issues; discuss confidentiality; outline logistics of testing; present alternatives to testing; provide written materials and documentation; obtain informed consent; (3) Post-test education and genetic counseling: Clinician-provided test results; follow-up emotional and medical support offered; and (4) Laboratory issues: Use a certified laboratory and discuss the laboratory report with the patient. Huntington Disease: Overview HD is an adult-onset, autosomal dominantly inherited progressive neurodegenerative disease. Approximately 30,000 individuals are affected in the United States; males and females are affected equally, and HD crosses all racial and ethnic boundaries. An additional 150,000 people are considered at risk. Affected individuals become symptomatic most commonly at age 35 to 50 years. HD progresses over a 10- to 25-year period with initial symptoms of personality changes, depression, mood swings, unsteady gait, slurred speech, impaired judgment, and difficulty in swallowing. In more advanced stages, choreic movements, seizures, and progressive dementia incapacitate patients. Death frequently occurs due to respiratory complications of the disease.8 The discovery of the gene responsible for HD made testing at-risk asymptomatic individuals possible.1 The disease is caused by an unstable trinucleotide repeat of cytosine, adenine, and guanine (CAG) in the non-coding region of the gene. In affected individuals, this region is expanded with more than 36 repeats. All individuals with >36 CAG repeats will become pathologically affected with HD.15 Normally, in unaffected individuals this repeat element has <30 repeats. However, there can be an indeterminate number of repeats, ie, between 30 to 36.16 When an individual has an indeterminate number of repeats, this expansion indicates <100% prediction of clinical disease risk. Indeterminate expansions must be interpreted cautiously; this illustrates the need for sophisticated genetic counseling skills. Trinucleotide expansion is the genetic basis for HD worldwide and is a highly sensitive and specific marker for inheritance of the disease mutation.17,18 The test involves molecular analysis of the trinucleotide expansion repeat CAG using relatively simple molecular biology techniques. For individuals who elect predictive testing, the NSGC minimally recommends genetic counseling by a medical geneticist in consultation with a neurologist and a psychologist or psychiatrist familiar with HD; the actual genetic blood test; discussion of the results; and follow-up.2,4 It is also recommended that patients locate a specialized HD testing center. Testing is also available to determine if a fetus carries the HD gene. Bennett et al4 recommend that this testing be offered only if the family agrees to terminate a pregnancy at increased risk because otherwise a child will have been tested. It is not recommended that a child be tested, since presently there is no therapy. Breast Cancer Genes, BRCA1 and BRCA2: Overview In 1990, linkage analysis localized a candidate gene for hereditary breast and ovarian cancer to chromosome 17q12-q21. Since then, 2 breast and ovarian cancer susceptibility genes have been cloned and characterized, BRCA1 and BRCA2. Mutations in the BRCA1/2 genes lead to an increased susceptibility to breast, ovarian, and other cancers. An estimated 3% to 8% of all women with breast cancer carry an alteration in 1 of these genes.19,20 The percentage of people with an alteration that could increase the risk of breast and ovarian cancer (ie, a mutation) in BRCA1 is estimated at between 0.1% to 0.6%. According to lifetime risk estimates for women in the general population, about 12% will develop breast cancer, compared with 50% to 85% of women who are carriers with an altered BRCA1 or BRCA2 gene.20 For ovarian cancer, lifetime risk estimates for women in the general population predict that 1.5% will develop ovarian cancer, compared with 26% to 85% for women with an altered BRCA1 gene and <10% to 20% for women with an altered BRCA2 gene. BRCA1 and BRCA2 genes can be both ethnically specific (eg, Ashkenazi Jewish population), as well as occur in families that are not thought to be at higher risk than the general population. Men and women with a BRCA1 mutation have an increased chance for colon cancer, and men with a BRCA1 mutation have an increased risk for developing prostate cancer. Men with a BRCA2 mutation have an increased risk for breast cancer as well as pancreatic cancer.21-27 Families with multiple affected first-degree relatives and patients with early-onset disease harbor mutations at a higher frequency. The BRCA1 and BRCA2 genes code for large proteins that appear to act more as "caretaker" (rather than "gatekeeper") genes, which cause tumor development indirectly, than as classic tumor suppressor genes, such as the genes for neurofibromatosis for which there is a high observed rate of loss of heterozygosity in the associated tumors.28,29 Couch et al 30 reported a total of 254 BRCA1 mutations, 132 (52%) of which were unique. A large number of distinct mutations have been found in families around the world. Individuals of Ashkenazi Jewish descent have a higher chance of having certain BRCA1/2 mutations than other ethnic groups. In the Ashkenazi Jewish population, 2 BRCA1 mutations (185delAG and 5382insC) and 1 BRCA2 (6174delT) mutation are found with an increased frequency of 2.3% (about 1/45). All other BRCA1 mutations in other populations have an estimated carrier frequency rate of 1/833.27 Men carrying 1 of the 3 Ashkenazic mutations have on average a 16% chance of prostate cancer (compared with a 1.6% chance for noncarriers) by age 70 years.31-34 Most defined mutations are frameshift and nonsense mutations, which result in premature truncation of the protein. These mutations may substantially increase the risk for breast and ovarian cancer, but a precise risk estimate for each different mutation cannot be determined. It is unclear why the penetrance is not complete (ie, why everyone with a disease-associated mutation in BRCA1 or BRCA2 does not develop cancer) nor why there is variability in the population (ie, why the age of onset differs from age 10 to 19 years onward). Hence the genes are correctly considered disease-susceptibility genes, not disease-causing genes. Patients and physicians considering BRCA1/2 gene testing are faced with a difficult decision. The diversity of mutations and lack of general population data prevent accurate risk prediction. This is further complicated by the paucity of data on effective prevention strategies for those identified as at higher risk on the basis of genotype.35 Medical or surgical interventions in many cases reduce the risk of cancer death for women at increased risk, but their effectiveness has not been fully evaluated.22, 36-37 The American Society of Clinical Oncology38 and the American College of Medical Genetics39 warn that cancer predisposition gene testing should be offered only when the person has a strong family history of the disease, the test is interpretable, and the results are applicable to future medical management. It is important to consider whether even to offer genetic testing if the American Society of Clinical Oncology requirement is not met. Assessment of heightened familial risk requires ascertaining incidence of breast and ovarian cancer in members of both the maternal and paternal sides of the family and eliciting accurate ethnic background.39 Once the decision is made to offer genetic testing for BRCA1/2, there are 3 ways to test an individual for these genes depending on the family and medical history of the at-risk individual: (1) Identifying 1 specific mutation (known as single-site mutation analysis); (2) testing for a number of mutations; or (3) fully sequencing the genes.38 Single-site mutation analysis is generally used when a previously characterized mutation has been identified in an affected individual in the family. If the same mutation is found in the tested individual, the risk for disease development would be similar to that of other affected family members. If the familial mutation is not found, that individual's risk reverts to the population risk. If a change is found that has not been previously characterized or associated with disease, the cancer risk cannot be determined from the available information. In rare cases, more than 1 familial mutation may be associated with disease; hence a negative result from the single-site mutation analysis is not sufficient to rule out risk. Both mutations must be analyzed. Multiple mutation analysis is for individuals who have a higher risk for a certain mutation(s) based on ethnic background. A positive result for a deleterious mutation indicates an increased risk for development of breast/ovarian/other cancer. If no mutations are detected, an individual at high risk due to ethnic background or family history may still harbor other BRCA1/2 mutations that have not been specifically tested for, or have mutations in genes not yet associated with the disease. The risk for these people is unknown. Persons who have a negative result from multiple mutation analysis may, therefore, still be at risk for breast, ovarian, or other cancers due to changes in BRCA1/2 or other genes not identified by testing. Fully sequencing the BRCA1/2 genes is usually reserved for individuals with noninformative results from either single or multiple mutation analysis. If upon sequencing of the 2 genes, a mutation is found that has been associated with disease, the individual now has a confirmed risk of developing breast, ovarian, or other cancer(s). Again, if the mutation is of uncertain significance, then cancer risk cannot be determined. The mutation may simply represent a benign polymorphism in the gene. Finding no changes in the sequence of BRCA1/2 does not minimize the risk if the family history indicates the patient is at high risk. Breast and ovarian cancers are genetically heterogeneous, with multiple genes implicated that may not be known at the time of testing. The patient's risk remains the same as that prior to the testing. Predisposition Genetic Testing for Late-Onset Disorders in Adults Using HD and BRCA1/BRCA2 As Examples The NSGC believes health care professionals should adhere to the following recommendations when predisposition genetic testing is performed on an at-risk individual. Although the discussion below centers around the NSGC paper, the views of other organizations and authors are also cited. Multidisciplinary Approach. A patient presenting for genetic testing may require the expertise of a number of specialties. The genetic counselor describes the genetic inheritance, explains any complex medical terminology, and provides support to the patient and family.2 It is not the role, nor the responsibility, of the genetic counselor to perform duties that she or he is not trained to perform. The genetic counselor may refer the patient to other services such as clinicians, counselors, or other support mechanisms. The HD testing protocol involves several visits to a health care center for pretest counseling, a neurological examination, a psychological and/or psychiatric screening, delivery of results, and follow-up/post-test counseling, all provided by a team of health care professionals.3,4 The University of Minnesota Department of Medicine/Genetics has developed guidelines for predictive testing for HD. Their consent form suggests the following protocol.40 Visit 1: Intake interview; family, psychosocial and medical history; introductory genetic counseling; and arrangements for obtaining a blood specimen from a prediagnosed family member. If indicated, a psychological consultation is provided. Visit 2: Neurological evaluation and psychological testing, if indicated. Visit 3: Review of psychological testing and counseling. Blood collection and consent forms signed. Visit 4: Discussion of DNA genetic testing results. Visits 5 and 6: Follow-up counseling. Bennett et al 4 recommend a minimum of 4 visits to the health care center for HD predictive testing. BRCA1 and BRCA2 Testing Guidelines: Ideally, an at-risk person should see other health care professionals prior to testing in order to determine psychosocial risks, and family and medical histories. However, it is possible for an at-risk person to visit a primary care physician or a genetic counselor and have a blood sample drawn for testing without any additional education and/or counseling provided. American Medical Association (AMA) policy41 on genetic susceptibility testing for breast and ovarian cancer states that physicians who feel unprepared to provide comprehensive genetic test counseling should refer candidates for genetic susceptibility testing to specialized care centers with experience and expertise in genetic susceptibility. Genetic susceptibility testing should be provided only in the context of fully informed consent and comprehensive pre- and post-test counseling.42 The fact that the mutations in BRCA1/2, unlike HD, do not destine carriers to an inevitably fatal disease may account for the perception that less stringent guidelines for testing are needed. Positive tests for these genes do not predict that individuals will inevitably develop breast and ovarian cancer but do significantly alter the estimate of their risk. At present it is not understood why the genes are not fully penetrant nor what is the effect of different interventions. The NSGC and others have recommended that BRCA1/2 testing preferably be done in academic institutions whose protocols have been reviewed by an institutional review board rather than through commercial vendors whose informed consent may not be as extensively reviewed.43 However, the Stanford Program in Genomics, Ethics and Society44 states that testing need not be limited to research practices, but all testing programs should strive to meet high standards. Another consideration is that at present only 1 commercial laboratory offers the testing, Myriad Genetics Laboratories, which owns the patent for the sequence of BRCA1.45 In New York state, BRCA1/2 testing may only be performed by state-licensed laboratories. Controversy exists over the appropriate regulation of genetic testing and the role of the Food and Drug Administration in ensuring safety and efficacy. Current guidelines from the American Society of Clinical Oncology,38 the American College of Medical Genetics,39 the Stanford Program,44 and the American Society of Human Genetics,46 recommend that BRCA1/2 testing be considered in the group of cancer susceptibility genes for which testing may be of "presumed benefit" but the full extent of that benefit is undetermined. Included in this category are the genes for hereditary non-polyposis colorectal cancers.38 The National Advisory Council for Human Genome Research (the American College of Medical Genetics, the American Society of Human Genetics, the Stanford Program, and others) recommends that prior to development of clinical practice guidelines for testing, a large body of clinical controlled testing be conducted.43 Pretest Education and Genetic Counseling Family History and Diagnosis Confirmation. Pretest education and genetic counseling should begin with exclusion of the symptomatic individual, unless there can be some benefit from testing a clearly diseased individual, such as its affect on testing other family members. When determining family history it is important to appreciate the possible differential diagnosis for the disease in question prior to testing. A family history from first- and second-degree relatives must be obtained; history from further removed relatives may not be useful and may be less accurate. Ensuring that the correct diagnosis for testing has been made avoids liability engendered if the patient is tested for a disease that a comprehensive review of the family and medical histories would have excluded. Client-Centered Approach. The NSGC recommends a client-centered approach to counseling that provides patients with usable information.2 In general, the at-risk individual should be accompanied through the testing procedure by a close companion,3 eg, a spouse, partner, or close ally, who can provide emotional support. Companions should not be at-risk individuals themselves; they should not be siblings, nor other relatives, for whom the test results could reveal unwanted genetic results regarding themselves. Review of Natural History of Condition. Often during review of the natural history of a disease, complex genetic medical terminology is introduced to the patient; eg, "reduced penetrance, variable expression, heterogeneity, multifactorial," and "anticipation." Explaining these terms is crucial to the patient s understanding of the value and the limitations of the proposed testing. In many cases, a full understanding of the natural history of the disease requires referring the patient to additional specialists, eg, in the case of HD, a neurologist, or with breast cancer, an oncologist. Motives and Readiness for Testing; Psychological Issues. Motives should be discussed prior to testing. Tests for certain diseases will considerably alter the life of the tested individual. The motives for testing for a predisposing cancer gene will be very different than for the HD predictive gene test due to the particular treatment, reproductive, and career options. Some assessment of pre-testing psychosocial stress is important to understand the motives for testing. Potential psychological impact of test results should be addressed prior to testing. In the HD testing protocol, assessing suicide risk is important prior to performing the gene test.5,6 When asked their reasons for testing, individuals at risk for HD indicated in 1 study that they were planning for the future, concerned for their children, and wanted to reduce uncertainty.47 However, individuals at risk for cancer may be able to institute preventive measures, which could be an additional motive for requesting testing. Initially, there were no data supporting preventive measures (eg, prophylactic mastectomy) or the efficacy of mammography in younger women (which would include younger women with increased risk) when BRCA1/2 disease-associated mutations were found. Now data exist supporting both measures.37 Lerman et al 48 reported that 43% of all individuals in their study from hereditary breast/ovarian cancer families requested BRCA1 test results when offered. DudokdeWit et al 49, 50 determined that people at risk for neurodegenerative disorders, such as HD, reported more test avoidance, as well as higher anxiety and depression than individuals at risk for cancer syndromes. Discussion of Predictive Value and Limitations of Testing. It should be explained to the patient that, as in many inheritable adult-onset genetic diseases, BRCA1/2 mutations do not necessarily indicate the carrier will develop breast, ovarian, and/or other cancer, but confer an increased susceptibility. This is unlike HD, which does not exhibit genetic heterogeneity; ie, all of the individuals with >36 CAG repeats will become affected with HD.15 As other tests are developed, understanding the clinical variability and the typical age of onset may alter the predictive value of the test. Complex genetic testing for the BRCA1/2 cancer susceptibility genes is much harder to communicate than for HD symptomatic genetic testing. Most tests for inherited adult-onset genetic disease are based on the at-risk individual being given an altered probability for becoming affected in the future, as with the BRCA1 and BRCA2 genes. This probability can mean very different things to different people, depending on how it is communicated to the patient/patient s family by either the test result in writing or by delivery of the result from the health care professional.50,51 Confidentiality. Confidentiality is of the utmost importance when considering genetic testing. Patients may suffer discrimination as a result of genetic testing, such as the loss of health insurance and employment.52,53 To some extent the current controversy about the privacy of medical records has sprung from the recognition of potential damage that release of genetic testing results may cause. Even just ordering a genetic test may lead a health insurance company to deny future coverage, or a genetic diagnosis in a child may lead to loss of life insurance for the parent. Hence the cost of the testing is often borne by the patient to avoid disclosure. These concerns are disease neutral. The potential negative impact is frequently cited by parents who refuse Neurofibromatosis 2 testing in the United States, whereas there is 100% uptake of this pre-symptomatic genetic test in Great Britain. Logistics of Testing; Alternatives. After pretest counseling, an individual can elect 1 of 3 options: (1) Continue with the program and have the genetic test: A specimen is collected, arrangements are made for discussion of results, and the patient is sent home to await results. (2) No testing elected: Terminate participation with the program. (3) Undecided. If option 2 or 3 is selected, the patient may be re-contacted in the future to determine if there is any change in the decision to be tested.54 Changes in the testing technology that increase the specificity and/or sensitivity of the test, available therapy for the at-risk person may change. With HD, >80% of at-risk individuals elect not to undergo testing, which may reflect the lack of current therapy.53 Documentation; Informed Consent. The prospective patient should be provided with written materials and documentation to take home for review. The health care provider should be accessible to the patient for follow-up questions, post-test education, and counseling. Referral to reliable resources for patients and their families contemplating genetic testing also should be available from the heath care professional (eg, National Action Plan on Breast Cancer and the Huntington Disease Foundation). Informed consent should be obtained. The patient should not sign the consent form without as full as possible understanding of the information.55,56 The informed consent process will ideally consist of all of the components previously detailed above, with the actual signature representing an attestation to the process. Post-test Education and Genetic Counseling Providing Test Results. A medical professional should provide the test results, ideally face-to-face, as soon as they are made available to the test-ordering physician. Consent from the patient to share results with other treating physicians and health care professionals must be obtained and not presumed, which is somewhat contrary to usual practice with regard to specialized testing (eg, pulmonary function tests). Post-test protocols differ between diseases for which there are therapeutic interventions versus those for which there is no current available therapy. Investigational trials of new agents are underway for many diseases with direct genetic tests; thus re-emphasizing the issue of the confidentiality of results for those who have avoided the issue by paying for testing directly. For instance, several approaches may be taken in managing cancer risk for individuals with a BRCA1/2 gene mutation. Heightened surveillance for early detection; prophylactic mastectomy 37 (to reduce risk, although there are reported cases of cancer occurrence after prophylactic surgery57); environmental risk avoidance, including limiting alcohol consumption and increasing regular exercise; chemoprevention, tamoxifen, and micro-nutrients such as dietary retinoids, vitamin E, and selenium; and gene therapy are all factors that could reduce risk.36 Emotional/Medical Follow-up Support. NSGC guidelines recommend follow-up emotional and medical support in the form of counseling. The long-term follow-up for those who have undergone predisposition genetic testing may provide additional information that may require revision of current testing guidelines. Early experience with HD testing demonstrates that follow-up is as important for those whose test results indicate they are unaffected as for those revealed to be affected, given the burden of "survival guilt" in those unaffected. Post-testing problems are both generic and disease-specific. For the breast cancer genes, surveillance is necessary regardless of results. Long-term management for asymptomatic carriers of BRCA1/2 disease-susceptibility gene mutations is being evaluated. The eventual impact of predisposition testing is not yet known, and experience may require further revision of guidelines. Laboratory Issues Use of a Certified Laboratory; Laboratory Report. When ordering a genetic test, laboratories should be used that are certified by the federal Clinical Laboratory Improvement Amendments Act (1988).58 This act has no standards for genetic testing, and thus many laboratories performing genetic testing seek voluntary accreditation from the College of American Pathologists/American College of Medical Genetics Molecular Pathology program; some states require independent laboratory certification programs for molecular genetic testing protocols for clinical use (eg, New York). The attending health care professional should be aware that different laboratories will perform testing and report results in different ways that may substantially affect the significance of the results. A health care provider should interpret the content of the laboratory report. If the primary care physician or other health care professional is not comfortable with delivery of the results, then referral should be made to appropriate health care providers to deliver the information.3 Guidelines for new adult-onset predictive tests should be studied in an academic setting first, prior to commercial laboratories offering the test.44 Other Relevant Guidelines The Working Group of the Stanford Program in Genomics, Ethics, and Society has produced 2 guidelines, both of which apply broadly to presymptomatic genetic testing for adult-onset disorders.44,59 The first, which discusses breast cancer, states that since genetic testing for adult-onset disease is rapidly changing, involved professional organizations should continue to draft and refine guidelines for when genetic testing is appropriate. Education programs need to be developed and implemented not only for those at risk, but also for the general population, health care providers, and policymakers. Companies with a financial interests in genetic testing should not control these programs. The Stanford Program emphasizes that federal and state laws should ban the use of information about genetic testing in health insurance or employment decisions. These prohibitions should be coupled with privacy legislation that limits the ability of insurers and employers to acquire genetic information.44 The Stanford Program also addresses adult-onset genetic testing in comprehensive recommendations on current genetic testing for Alzheimer disease (AD).59 Of particular significance, due to phenotypic changes that interfere with cognitive abilities of affected individuals, is how to determine whether a patient with dementia should be offered genetic testing. It is recommended that a surrogate "consent giver" accompany the affected individual to counseling for decision making purposes. This was discussed to some degree in the NSGC guidelines, which indicate that a person with HD should be accompanied by an unrelated companion who does not have a personal stake in obtaining test results. The Stanford Program did not point out that the "consent giver" for AD genetic testing might be an individual with a personal stake in the test results. The Stanford Program agrees on the inappropriateness of testing children, fetuses, or embryos, with the caveat that if an association becomes apparent between susceptibility genes for a disease and increased risk for another disease or substantive preventive benefit is proven (eg, therapeutic intervention), the policies on such testing will be revisited. The most frequently cited example of the former is the correlation between ApoE as disease susceptibility for AD and independently for cardiovascular disease. The American College of Medical Genetics Foundation, with support from the New York State Department of Health, has produced guidelines to address the genetic susceptibility to breast and ovarian cancer.39 These guidelines have been distributed to more than 25,000 health care providers, including oncologists, primary care providers, obstetricians, and others in New York state. These guidelines emphasize the need to make a risk assessment for breast cancer based on a detailed family history and provide full details of key factors in the family history that increase an individual s risk. Providing an algorithmic approach, these guidelines emphasize the need to continue surveillance regardless of possible outcomes. For example, a woman with a significant family history, and a negative test for BRCA1/2 disease-associated mutations still needs heightened surveillance. Summary and Analysis Some genetic adult-onset diseases with accurate predictive tests fit the NSGC protocol better than others. The experience with HD represents the current best paradigm, which has been amply described in the literature and has greatly informed the protocol as detailed in the NSGC position paper.2 However, very few diseases fit the protocol as closely as HD. The examples of BRCA1/2 genetic testing illustrate the difficulties in attempting to follow the protocol, which arise from the nature of the disease being tested. BRCA1/2 gene mutations confer an increased predisposition to disease as opposed to the HD gene mutation. Therapy for breast and ovarian cancer exists, whereas there is no curative therapy available for HD, which requires recognition of an altered intent for testing and application of components of the NSGC protocol. Questions remain as to whether the health care professional is obligated to recognize that when an individual declines testing, permission should be obtained for re-contact if testing for a specific gene changes (eg, better sensitivity, specificity, and prognostic potential). One recent study suggests there is a duty to re-contact prospective patients,60 as do the American College of Medical Genetics/New York State Guidelines for Breast/Ovarian Cancer, which indicate continued surveillance of the at-risk person.39 It is also possible that more curative therapy will become available and/or genotyping may impact significantly on potential therapy. As more genes are isolated for adult-onset inherited diseases, experience will inform revision of the NSGC and other guidelines. RECOMMENDATION The following statement, recommended by the Council on Scientific Affairs, was adopted by the AMA House of Delegates as AMA policy in June 1999:
|
References
|
CSAPH home page
1999-2000 reports
Reports by topic
Content provided by: CSAPH
Copyright 1995-2008 American Medical Association. All rights reserved.
