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PubMed1997

Genetic testing for familial hypercholesterolaemia: practical and ethical issues.

Coronary artery disease (CAD) has a strong genetic component, but is also greatly influenced by environmental factors such as diet and smoking, and disorders such as diabetes mellitus and hypertension. This interaction makes prediction of CAD risk generally difficult. However, in familial hypercholesterolaemia (FH), risk of early CAD is considerably increased by the mutation of a single gene, and genetic testing may be appropriate. We summarize current knowledge concerning DNA-based tests in the identification and management of FH, and propose specific recommendations for genetic testing and further research. The major value of DNA tests for FH is in genetic tracing programs to identify and treat affected individuals. DNA testing is appropriate for: (a) diagnosis of FH when physical signs or family history are equivocal or absent (important given the increased risk of CAD associated with FH compared to other hypercholesterolaemias); (b) detection of a mutation causing FH in immediate family members (particularly children) where there is a family history of premature CAD. A positive DNA-based test for a mutation is especially useful in children, in whom plasma lipid levels may not be diagnostic. Current clinical practice is to test relatives for raised cholesterol. Testing for mutation carriers in distant relatives, although feasible, is not currently recommended. Research projects should now be started to address two issues: (i) whether genetic tests for FH better predict clinical outcome than does measurement of plasma lipid levels; (ii) whether genetic testing for FH confers overall benefit both to the patient and their relatives, and to the NHS. Answers to these questions will guide the subsequent development and implementation of genetic tests for CAD risk in general, if and when the considerably more complex genetic causes of CAD are identified.

Adult↗

PubMed1999

Genetic testing and the clinical laboratory improvement amendments of 1988: present and future.

CLIA '88 superseded CLIA '67. CLIA '88 set standards designed to improve quality and expanded federal oversight to virtually all clinical laboratories in the United States. Presumably because genetics testing was then in its infancy, CLIA '88 did not devote a special section to genetics testing. Biochemical and immunochemical tests used to evaluate inborn errors of metabolism and other genetic entities were categorized as analytes in the Clinical Chemistry section, and DNA probes used primarily in infectious disease were included in Microbiology. The legal, social, economic, and ethical implications of genetic testing and the rapid commercialization of these tests led to recommendations that genetic testing be defined as a laboratory specialty with a subsection in CLIA. The advisory committee created under CLIA was assigned to review these recommendations. The committee agreed that genetics testing was sufficiently different from other areas already included in CLIA to warrant a separate section. Two definitions were adopted. The more clear-cut one is for molecular genetic and cytogenic tests. This includes the analysis of human DNA/RNA in evaluating genetic diseases. The second definition is not as clear-cut and is for the analysis of proteins and metabolites used predominantly to detect inborn errors of metabolism. Many of these analytes already are categorized according to their uses for other purposes. The recommendations for genetic testing include detailed and specific proposals concerning personnel, confidentiality and informed consent, quality control, contamination, proficiency testing, validation of tests, special reporting, retention of records, and reuse of tested specimens.

Clinical Laboratory Techniques↗

PubMed2002

BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes.

PURPOSE: To compare genetic test results for deleterious mutations of BRCA1 and BRCA2 with estimated probabilities of carrying such mutations; to assess sensitivity of genetic testing; and to assess the relevance of other susceptibility genes in familial breast and ovarian cancer. PATIENTS AND METHODS: Data analyzed were from six high-risk genetic counseling clinics and concern individuals from families for which at least one member was tested for mutations at BRCA1 and BRCA2. Predictions of genetic predisposition to breast and ovarian cancer for 301 individuals were made using BRCAPRO, a statistical model and software using Mendelian genetics and Bayesian updating. Model predictions were compared with the results of genetic testing. RESULTS: Among the test individuals, 126 were Ashkenazi Jewish, three were male subjects, 243 had breast cancer, 49 had ovarian cancer, 34 were unaffected, and 139 tested positive for BRCA1 mutations and 29 for BRCA2 mutations. BRCAPRO performed well: for the 150 probands with the smallest BRCAPRO carrier probabilities (average, 29.0%), the proportion testing positive was 32.7%; for the 151 probands with the largest carrier probabilities (average, 95.2%), 78.8% tested positive. Genetic testing sensitivity was estimated to be at least 85%, with false-negatives including mutations of susceptibility genes heretofore unknown. CONCLUSION: BRCAPRO is an accurate counseling tool for determining the probability of carrying mutations of BRCA1 and BRCA2. Genetic testing for BRCA1 and BRCA2 is highly sensitive, missing an estimated 15% of mutations. In the populations studied, breast cancer susceptibility genes other than BRCA1 and BRCA2 either do not exist, are rare, or are associated with low disease penetrance.

Adult↗

PubMed2003

Decisional consideration of hereditary colon cancer genetic test results among Hong Kong chinese adults.

This study investigated the relationship between psychosocial factors and the decisional consideration of genetic testing of hereditary colon cancer. Attitudes and beliefs about genetic testing, anxiety and depression levels, coping style, and optimism were used as psychosocial independent variables. Sixty-two registrants (61% males and 39% females) of the Hereditary Gastrointestinal Cancer Registry of the Queen Mary Hospital in Hong Kong completed a mail survey. Mean age of the respondents was 42 years (SD = 9.92 years, range: 18-68 years). Correlational analyses and regression analyses were used to examine the relationships between the dependent and independent variables. Participants were concerned about the well-being and reactions of their significant others even more than their own well-being in their decisional consideration processes. Those who had higher perceived risks of being a mutated carrier and higher depression levels tended to emphasize more on the negative consequences of learning the test results and sharing them with relatives. Besides, those who believed that having cancer was attributable to personal (e.g., stress) rather than environmental factors considered that the negative consequences were relatively more important than the positive gains in sharing their results with relatives. Our participants tended to be relational or interdependent oriented in their decisional consideration processes related to genetic testing of colon cancer. This result is consistent with the established interdependent orientation of Chinese. Participants with higher risk perception focused more on the negative consequences of genetic testing. Psychological counseling might help these patients to cope with their concerns about being diagnosed as gene carriers after genetic testing.

Adaptation, Psychological↗

PubMedDate not supplied

Oncologists' opinions on genetic testing for breast and ovarian cancer.

PURPOSE: To determine oncologists' practices and beliefs about genetic testing for hereditary breast and ovarian cancer and the extent to which oncologists are utilizing clinical genetics services. METHODS: A survey was mailed to oncologists who treat adult patients in Washington, Oregon, Idaho, or Alaska. RESULTS: Most oncologists (79%) had discussed genetic tests with their patients, and 76% indicated they would like patients considering genetic testing to consult with a genetic counselor. Yet few (19%) indicated their medical practice had the necessary services and staff to offer genetic testing, and only 11% had made referrals to medical genetics or genetic counselors. CONCLUSION: Most respondents support the use of genetic services, but few have made referrals to genetic counselors. Increased communication between oncologists and genetic counselors may enhance collaboration between these two disciplines.

Adult↗

PubMed2002

Genetic testing for lung cancer risk: if physicians can do it, should they?

Advances in genetics have increased our ability to assess an individual's genetic risk for disease. There is a hypothesis that genetic test results will motivate high-risk individuals to reduce harmful exposures, to increase their surveillance for disease, or to seek preventive treatments. However, genetic testing for genes associated with an increased risk of lung cancer would not change physicians' recommendations regarding smoking cessation. Limited studies suggest that test results that demonstrate an increased risk of lung cancer do not improve smoking cessation success. These test results may even distort an individual's risk perceptions. Before recommending genetic testing to assess risk for disease, physicians need to consider whether knowledge about genetic susceptibility will alter patient management.

Health Behavior↗

PubMed2004

Molecular genetic testing for malignant hyperthermia susceptibility.

BACKGROUND: For more than 30 yr, the in vitro contracture test (IVCT) was the only appropriate diagnostic tool for malignant hyperthermia (MH). After the introduction of molecular genetics into MH research, guidelines for molecular genetic diagnosis of MH susceptibility were published. The aim of this study was to establish applicability of the guidelines, sensitivity, and specificity of genetic testing in MH and advantages for studied patients. METHODS: The IVCT was performed following the guidelines of the European MH Group. Mutation analyses were performed by amplification of genomic DNA by polymerase chain reaction and restriction enzyme digestion. RESULTS: Two hundred eight individuals underwent MH testing between January 2001 and April 2003. In 32 of 67 initially genetic-tested patients, the familial mutation was identified, and they were diagnosed as MH susceptible. The IVCT followed negative genetic test results in 20 patients, and all but one had negative IVCT results. Three patients were scheduled to undergo elective surgery, and IVCT and genetic testing were performed simultaneously. All three had positive IVCT results and were carriers of their familial mutation. CONCLUSIONS: In families with known MH mutations, there is a 50% chance of reliably confirming MH susceptibility by noninvasive testing. The authors found the negative predictive value of genetic testing to be 0.95 (95% confidence interval, 0.75-0.99), but for patient safety, they still recommend following the guidelines for genetic testing in MH and therefore performing an IVCT in case of negative genetic results.

Anesthesia, Conduction↗

PubMed1998

Genetic testing in Alzheimer's disease. Benefits risks and public policy.

1. Genetic research is providing new information about the structure and function of genes associated with diseases such as Alzheimer's disease. 2. The ability to perform genetic tests to diagnose or predict disease often exists before the ability to prevent or treat disease. 3. Genetic tests are associated with both benefits and risks, which likely will apply to the Alzheimer's disease population. 4. Safe and effective tests, laboratories of assured quality, competent providers, assured privacy of genetic information, and informed consumers are important prerequisites to the successful integration of genetic tests into health care services.

Aged↗

PubMed2003

American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

As the leading organization representing cancer specialists involved in patient care and clinical research, the American Society of Clinical Oncology (ASCO) reaffirms its commitment to integrating cancer risk assessment and management, including molecular analysis of cancer predisposition genes, into the practice of oncology and preventive medicine. The primary goal of this effort is to foster expanded access to, and continued advances in, medical care provided to patients and families affected by hereditary cancer syndromes. The 1996 ASCO Statement on Genetic Testing for Cancer Susceptibility set forth specific recommendations relating to clinical practice, research needs, educational opportunities, requirement for informed consent, indications for genetic testing, regulation of laboratories, and protection from discrimination, as well as access to and reimbursement for cancer genetics services. In updating this Statement, ASCO endorses the following principles: Indications for Genetic Testing: ASCO recommends that genetic testing be offered when 1) the individual has personal or family history features suggestive of a genetic cancer susceptibility condition, 2) the test can be adequately interpreted, and 3) the results will aid in diagnosis or influence the medical or surgical management of the patient or family members at hereditary risk of cancer. ASCO recommends that genetic testing only be done in the setting of pre- and post-test counseling, which should include discussion of possible risks and benefits of cancer early detection and prevention modalities. Special Issues in Testing Children for Cancer Susceptibility: ASCO recommends that the decision to offer testing to potentially affected children should take into account the availability of evidence-based risk-reduction strategies and the probability of developing a malignancy during childhood. Where risk-reduction strategies are available or cancer predominantly develops in childhood, ASCO believes that the scope of parental authority encompasses the right to decide for or against testing. In the absence of increased risk of a childhood malignancy, ASCO recommends delaying genetic testing until an individual is of sufficient age to make an informed decision regarding such tests. As in other areas of pediatric care, the clinical cancer genetics professional should be an advocate for the best interests of the child. Counseling About Medical Management After Testing: ASCO recommends that oncologists include in pre- and post-test counseling the discussion of possible risks and benefits of cancer early-detection and prevention modalities, some of which have presumed but unproven efficacy for individuals at increased hereditary risk of cancer. Regulation of Genetic Testing: ASCO recommends strengthening regulatory oversight of laboratories that provide clinical cancer predisposition tests. These quality assurance mechanisms should include oversight of the reagents used in genetic testing, interlaboratory comparisons of reference samples, standardization of laboratory genetic test reports, and proficiency testing. Protection From Insurance and Employment Discrimination: ASCO supports establishing a federal law to prohibit discrimination by health insurance providers and employers on the basis of an individual's inherited susceptibility to cancer. Protections against genetic discrimination should apply to those with group coverage, those with individual health insurance policies, and the uninsured. Coverage of Services: ASCO supports efforts to ensure that all individuals at significantly increased risk of hereditary cancer have access to appropriate genetic counseling, testing, screening, surveillance, and all related medical and surgical interventions, which should be covered without penalty by public and private third-party payers. Confidentiality and Communication of Familial Risk: ASCO recommends that providers make concerted efforts to protect the confidentiality of genetic information. However, they should remind patients of the importance of communicating test results to family members, as part of pretest counseling and informed consent discussions. ASCO believes that the cancer care provider's obligations (if any) to at-risk relatives are best fulfilled by communication of familial risk to the person undergoing testing, emphasizing the importance of sharing this information with family members so that they may also benefit. Educational Opportunities in Genetics: ASCO is committed to continuing to provide educational opportunities for physicians and other health care providers regarding the methods of cancer risk assessment, the clinical characteristics of hereditary cancer susceptibility syndromes, and the range of issues related to genetic testing, including pre- and post-test genetic counseling, and risk management, so that health professionals may responsibly integrate the care of persons at increased genetic risk of cancer into the practice of clinical and preventive oncology. Special Issues Relating to Genetic Research on Human Tissues:ASCO recommends that all researchers proposing to use or store human biologic specimens for genetic studies should consult either the responsible institutional review board (IRB) or a comparable body specifically constituted to assess human tissue research, to determine the requirements for protection specific to the study under consideration. This consultation should take place before the project is initiated. The determination of the need for informed consent or authorization in such studies should depend on whether the research involves tests for genetic markers of known clinical significance and whether research data will be linked to protected health information, as well as other considerations specific to the study proposed. Special attention should also be paid to 1) whether future research findings will be disclosed to the research participants, 2) whether future contact of participants is planned, 3) whether and how protected health information about the tissue donors will be stored, and what will happen to study specimens after the trial ends. In addition, ASCO affirms the right of people contributing tissue to a databank to rescind their permission, in accordance with federal privacy regulations.

Disclosure↗

PubMed2009

Patterns of photoprotection following CDKN2A/p16 genetic test reporting and counseling.

BACKGROUND: The impact of melanoma genetic testing and counseling on photoprotective behaviors is unknown. OBJECTIVE: To determine if genetic testing and counseling alter compliance with photoprotection recommendations. METHODS: Reported use of sunscreen, protective clothing, and sun avoidance by 59 members of CDKN2A/p16-mutation positive pedigrees was assessed as a function of mutation status and melanoma history, before, immediately after, and 1 month following test reporting. RESULTS: Intentions to practice all photoprotective behaviors increased in all participant groups (P < .0001). At 1 month, 33% of participants reported the adoption of a new photoprotective behavior. Subpopulation analyses identified different patterns of change in photoprotection relative to baseline (P < .005), with no net decline in any group. LIMITATIONS: This initial study of CDKN2A/p16 families is small and awaits replication in a larger sample. CONCLUSION: Melanoma genetic testing and counseling enhanced intentions to implement photoprotective strategies and did not result in reduced compliance in the CDKN2A/p16-subpopulation.

Adult↗

PubMed2003

Factors affecting performance of prenatal genetic testing by Israeli Jewish women.

The number of prenatal genetic tests that are being offered to women is constantly increasing. However, there is little national data as to who is performing the tests and the reasons for doing or not doing so. This study evaluated the proportion of Jewish women in Israel who perform the various prenatal genetic tests and the factors affecting the performance of these tests. It was found that 60.9% of the women performed the triple test, 50.8% of women older than 35 years performed amniocentesis, while 63.3 and 24.3% of women performed Tay-Sachs and fragile-X carrier testing respectively. Ninety-six percent of the secular women compared to only 6.7% of the ultrareligious women performed the triple test. It was also found that94.4% of the secular women, 36.4% of the religious, and none of the ultrareligious women older than 35 years performed amniocentesis. In the stepwise regression analysis, being secular, having a higher income, fewer children, and being of Ashkenazi origin remained significant factors in determining performance of Tay-Sachs carrier testing. As regards fragile-X carrier testing, being secular, having fewer than four children, and having a higher income and a supplementary medical insurance remained significant factors. The main reason reported by the women for not performing amniocentesis or the triple test was for religious or moral grounds (53.3 and 67% respectively). The main reason given for not performing Tay-Sachs or fragile-X testing was that they were not referred for the tests (76 and 82% respectively). Consideration should be given to providing first trimester prenatal diagnosis to the ultrareligious group, including state subsidized fragile-X testing and educating the primary care givers about the importance of prenatal genetic testing. The information from the present study is vital for the planning of an equitable prenatal genetic service and provides guidelines for the implementation of such services in other countries.

Amniocentesis↗

PubMed2000

Interest in genetic testing among first-degree relatives of colorectal cancer patients.

PURPOSE: The present study examined colorectal cancer screening behaviors, risk perceptions, and willingness to receive genetic testing to determine colorectal cancer susceptibility. METHODS: We recruited 95 first-degree relatives of colorectal cancer patients, then conducted a brief telephone interview using a structured questionnaire that elicited information on sociodemographics, cancer screening behaviors, risk perceptions, and interest in genetic testing. RESULTS: Among these high-risk individuals who were aged 40 years or older, only 31% reported fecal occult blood testing within the past year and 59% reported undergoing sigmoidoscopy or colonoscopy within the past 5 years. The majority of participants believed their relative risk of colorectal cancer was increased (68%). Eighty-four percent of the participants indicated that they would have a genetic test if one were available. Participants who believed that <50% of colorectal cancers were caused by heredity were more likely to be interested in genetic testing than were participants who believed that 50% or more of colorectal cancers were caused by heredity. Referral source, sociodemographic factors, clinical factors, and perceived personal risk were not significantly associated with interest in genetic testing. CONCLUSION: Our results suggest that the demand for colorectal cancer susceptibility testing may be high among individuals with a family history of colorectal cancer. We also observed that a substantial number of first-degree relatives were not adhering to colorectal cancer screening guidelines. Accurate information on the genetic aspects of colorectal cancer and the benefits and limitations of genetic testing may help relatives of colorectal cancer patients make informed decisions about whether to undergo enhanced screening and genetic testing.

Adolescent↗

PubMed1999

Intention to learn results of genetic testing for hereditary colon cancer.

INTRODUCTION: This report investigates the correlates of intention to find out genetic test results in colorectal cancer patients undergoing genetic counseling and testing for hereditary nonpolyposis colon cancer. Specifically, we investigated whether intention to learn genetic test results was associated with sociodemographic factors, medical history, psychosocial factors, attitudes, beliefs, and decisional considerations related to genetic testing. MATERIALS AND METHODS: Among 342 colorectal cancer patients who went through an informed consent process and gave blood for genetic testing and who were eligible for a psychosocial questionnaire study, 269 cases completed a baseline interview. Patients were contacted in person during a routine clinic visit or by letter and follow-up telephone call and were interviewed either in person or by telephone. RESULTS: In univariate analysis, intention to learn test results was positively associated with income, quality of life, a belief that being tested will help family members prevent cancer, being worried about carrying an altered gene, and a belief that one has the ability to cope with test results. It was negatively associated with a belief that genetic counseling is too much trouble relative to the benefits. Intention also was positively associated with scales measuring the pros of learning test results and the pros of informing relatives about test results; it was negatively associated with the cons of learning test results. In multivariable analysis, the belief that testing would help family members prevent cancer, being worried about carrying an altered gene, and the pros of learning test results remained statistically associated with intention when other variables were included in the model. CONCLUSIONS: Our findings showed that the positive aspects of genetic testing were more strongly associated with intention than were the negative aspects. They also showed that persons who stated an intention to learn their genetic test results were more likely than persons who did not to affirm both the benefits and the importance of such testing. These results are consistent with the literature on psychosocial aspects of genetic testing for breast cancer.

Adaptation, Psychological↗

PubMedDate not supplied

Family communication about positive BRCA1 and BRCA2 genetic test results.

PURPOSE: The identification of a BRCA1 or BRCA2 genetic mutation can provide important health information to individuals who receive this result, but it can also provide crucial cancer risk information to family members. Most of the research on communication of genetic test results has focused on first degree relatives. The purpose of this retrospective study was to examine the process of communicating a positive BRCA1 or BRCA2 genetic test result to male and female first, second, and third degree relatives. METHODS: Participants were 38 female mutation carriers who responded to a written survey assessing the number and relationship of relatives informed, methods used to inform relatives, topics discussed, and motivations and barriers for communication. RESULTS: Overall, 59% (470/803) of first, second, and third degree relatives were informed. The proportion of informed parents, siblings, and offspring was nearly twice that of more distant relatives including nieces, nephews, aunts, uncles, grandchildren, and cousins (88% versus 45%; P = 0.02). The method of communication differed by the gender of the relative, as did some of the topics discussed. The most important reasons for discussing the genetic test results were (1) to inform the relatives of their risk, (2) to suggest that they be tested, and (3) to fulfill a perceived duty to inform. The major barrier to communication was little contact and/or emotionally distant relationships. CONCLUSION: Female mutation carriers act on a perceived duty to inform close relatives of their positive test result; however, there is a need for genetic counseling strategies that address communication with more distant relatives.

Communication↗

PubMed2004

Awareness of breast cancer genetics and interest in predictive genetic testing: a survey of a southern Italian population.

BACKGROUND: Before starting a molecular screening program for breast cancer risk and in order to develop ad hoc educational strategies, a population survey in Apulia, Italy, was performed to gather information on women's awareness of breast cancer genetics and their attitude toward genetic testing for breast cancer risk. PATIENTS AND METHODS: A consecutive series of 677 healthy women with or without a family history of breast cancer, who attended the outpatient clinics of Lega Italiana per la Lotta contro i Tumori in Bari, Italy, for preventive visits, were asked to complete a 20-item questionnaire on socio-demographics, risk perception, psychological characteristics and interest in genetic testing for breast cancer predisposing genes. RESULTS: Most women (77%) reported knowing something about the genetics of breast cancer; only 7% of the women were not interested at all in genetic testing. These figures were not significantly different for women with or without a family history of breast cancer. The two most frequently cited reasons for being interested in genetic testing, accounting for more than 50% of collected responses, were 'to learn about your children's risk' and 'to help advance research'. On multiple logistic regression analysis, only older age [odds ratio (OR) 1.9; 95% confidence interval (CI) 1.3-2.9] was associated with women's knowledge of genetic testing. Moreover, marital status (OR 4.0; 95% CI 1.1-14.6) and thinking of cancer (OR 2.2; 95% CI 1.0-4.7) independently predicted the interest in having genetic testing. CONCLUSIONS: Southern Italian women seem highly interested in genetic testing for breast cancer risk. However, their expectations mainly regard their concerns about their children or their altruistic need to help research rather than the idea of a direct clinical benefit. The great interest of the women in genetic testing probably reflects their inappropriate knowledge of the information that genetic testing can provide for breast cancer risk analysis.

Adult↗

PubMed2000

Insights into genetic testing for colon cancer: the nurse practitioner role.

As new genetic discoveries continue to gain public awareness, patients will increasingly call on their nurse practitioners (NPs) to discuss their inherited susceptibility to disease. Genetic testing for colon cancer can presently identify gene mutations for 2 inherited forms of this disease, familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, accounting for approximately 6% of the cases. By identifying patients at high risk for colon cancer, NPs can discuss the benefits of early detection through screening procedures while helping patients gain insight into the meaning and impact genetic testing can have on their lives. This article discusses the basic genetics involved and screening recommendations for those with a hereditary disposition to colon cancer. Benefits, risks, and limitations are also considered, along with the importance of the NP in educating and supporting individuals in their decision making about genetic testing for colon cancer.

Colonic Neoplasms↗

PubMed2000

Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2.

The perceived benefits and risks of genetic testing may vary between groups of individuals with different cultural, demographic, and family history features. This multicentre study examined the factors that influenced the decision to undergo genetic testing for BRCA1 and BRCA2 in Canadian Jewish women with breast cancer. A self-administered questionnaire was developed and distributed to 134 individuals enrolled in a research-based testing program for Ashkenazi women. The questionnaire assessed demographic, social, and family history parameters, and the influence of medical, family, social, psychological, and cultural/religious factors on decision making about genetic testing. Seventy-six percent of women completed the questionnaire. Forty-one percent of study participants had no family history of breast or ovarian cancer. The most important factors influencing the decision to undergo testing were a desire to contribute to research, potential benefit to other family members, curiosity, and the potential for relief if not found to be a carrier (endorsed by 87, 78, 70, and 60% of participants, respectively). The main perceived risks of undergoing genetic testing related to insurance discrimination, confidentiality, accuracy and interpretability of results, potential impact on marriage prospects for family members, and focus on the Jewish community (endorsed by 28, 24, 30, 17, and 14% of participants, respectively). This study provides novel information on the motivating factors for BRCA1 and BRCA2 mutation testing in Canadian women of Ashkenazi Jewish descent. The focus on altruistic factors and those related to perceived psychological benefits of testing is notable.

Adult↗

PubMed2006

Ethics, policy, and educational issues in genetic testing.

PURPOSE: Analyze ethics, public policy, and education issues that arise in the United States (US) and the United Kingdom (UK) when genomic information acquired as a result of genetic testing is introduced into healthcare services. ORGANIZING CONSTRUCT: Priorities in the Ethical, Legal, and Social Issues Research Program include privacy, integration of genetic services into clinical health care, and educational preparation of the nursing workforce. These constructs are used to examine health policies in the US and UK, and professional interactions of individuals and families with healthcare providers. FINDINGS: Individual, family, and societal goals may conflict with current healthcare practices and policies when genetic testing is done. Current health policies do not fully address these concerns. Unresolved issues include protection of privacy of individuals while considering genetic information needs of family members, determination of appropriate monitoring of genetic tests, addressing genetic healthcare discrepancies, and assuring appropriate nursing workforce preparation. CONCLUSIONS: Introduction of genetic testing into health care requires that providers are knowledgeable regarding ethical, policy, and practice issues in order to minimize risk for harm, protect the rights of individuals and families, and consider societal context in the management of genetic test results. Understanding of these issues is a component of genetic nursing competency that must be addressed at all levels of nursing education.

Confidentiality↗