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PubMed2004

Genetic testing in the workplace: ethical, legal, and social implications.

With the completion of the Human Genome Project, it is likely that genetic testing for susceptibility to a wide range of diseases will increase in society. One venue for such increased testing is likely to be the workplace as employers attempt to protect workers from unhealthy gene-environment interactions, improve productivity, and control escalating health care costs. Past and recent examples of genetic testing in the workplace raise serious concerns that such testing could pose a significant threat to workers' privacy, autonomy, and dignity. Thus, defining the ethically, legally, and socially appropriate and inappropriate uses of genetic testing in the workplace presents a major challenge for occupational health professionals in the years ahead.

Genetic Predisposition to Disease↗

PubMed1997

Proposal: a position for the insurance industry on genetic testing.

Proposed legislation to limit the use of genetic test results in insurance underwriting has appeared with increasing frequency at the state and federal level. The proponents seek to protect consumers from unfair discrimination by insurers. Can we not develop a proactive approach, acknowledging that we do not need to do prospective testing while we assert that we must retain the current status of equivalency of information between the underwriter and the applicant?

Genetic Testing↗

PubMed2005

To test or not to test? Moderators of the relationship between risk perceptions and interest in predictive genetic testing.

The moderating effects of motivational factors (illness prevention vs. emotional reassurance), regulatory focus (health vs. illness orientations), and cancer anxiety on the relationship between risk perceptions and women's interest in predictive genetic testing for breast cancer were studied among 102 women with no history of breast cancer. Risk perceptions per se were unrelated to testing interests. Perceptions of higher personal risk for developing breast cancer were positively related to women's interest in testing only among women whose dominant motivation was not emotional reassurance, who were not oriented towards ruling-out disease, and who were not highly anxious about breast cancer. These findings pointed to conditions under which risk perceptions may enhance screening behaviors, and other conditions under which they may not.

Adult↗

PubMed2006

The moral implications of prenatal genetic testing.

The advance of medical technology now permits many genetic tests to be administered to a fetus in the womb. The goal of this testing is to determine the potential for genetically based disorders and disabilities. The use of these tests has major implications on the decision of a parent to abort a child based on what information they find in the prospective child's genes. Advocates of prenatal testing argue that it enables the families of these prospective children to make an informed decision when faced with the possibility of disability. I argue that this choice is drastically limited by social coercion through a discriminatory and stereotyped perception of the disabled community. Permitting an uncontrolled barrage of prenatal genetic tests will further promote the stereotype of a disabled life, and thus hinders our societal goal to recognise and promote equality and individuality. Which disabilities to test for, or what genes to search for, is a judgement that should be made only through extensive consultation with members of the disabled community, including individuals who have suffered from or who have been directly associated with the disability which is said to be tested.

Abortion, Eugenic↗

PubMed2004

Predictive genetic test decisions for Huntington's disease: context, appraisal and new moral imperatives.

Predictive testing is one of the new genetic technologies which, in conjunction with developing fields such as pharmacogenomics, promises many benefits for preventive and population health. Understanding how individuals appraise and make genetic test decisions is increasingly relevant as the technology expands. "Lay" understandings of genetic risk and test decision-making, located within holistic life frameworks including family or kin relationships, may vary considerably from clinical representations of these phenomena. The predictive test for Huntington's disease (HD), whilst specific to a single-gene, serious, mature-onset but currently untreatable disorder, is regarded as a model in this context. This paper reports upon a qualitative Australian study which investigated predictive test decision-making by individuals at risk for HD, the contexts of their decisions and the appraisals which underpinned them. In-depth interviews were conducted in Australia with 16 individuals at 50% risk for HD, with variation across testing decisions, gender, age and selected characteristics. Findings suggested predictive testing was regarded as a significant life decision with important implications for self and others, while the right "not to know" genetic status was staunchly and unanimously defended. Multiple contexts of reference were identified within which test decisions were located, including intra- and inter-personal frameworks, family history and experience of HD, and temporality. Participants used two main criteria in appraising test options: perceived value of, or need for the test information, for self and/or significant others, and degree to which such information could be tolerated and managed, short and long-term, by self and/or others. Selected moral and ethical considerations involved in decision-making are examined, as well as the clinical and socio-political contexts in which predictive testing is located. The paper argues that psychosocial vulnerabilities generated by the availability of testing technologies and exacerbated by policy imperatives towards individual responsibility and self-governance should be addressed at broader societal levels.

Adult↗

PubMed1999

Risk communication in genetic testing for cancer susceptibility.

Risk communication is an integral part of genetic counseling and testing for cancer susceptibility. This paper reviews the emerging literature on this topic. Three relevant aspects of risk communication are addressed: communication of individual risk, communication of the risks inherent in genetic testing, and family communications related to risk. These studies suggest that (a) most individuals with some family history of cancer, including those at low to moderate risk, overestimate their personal cancer risk; (b) awareness of the risks of genetic testing is limited; (c) decision making about genetic testing is influenced strongly by exaggerated perceptions of personal cancer risk and less so by perceptions of the risks of genetic testing; (d) perceptions of personal risk of cancer are resistant to standard education and counseling approaches; (e) psychologic distress and coping processes influence the processing of risk information and subsequent decision making in genetic testing; and (f) family influences play an important role in risk awareness, genetic testing decisions, and outcomes. To study these issues further, new theoretical models and measures of risk perceptions need to be developed. Both observational and experimental methods should be used to examine both the content and process of risk communication in cancer genetic counseling and testing. Emotional, familial, and sociocultural influences on the risk communication process require special attention.

Communication↗

PubMed2002

The challenges of genetic tests for human behavior.

OBJECTIVE: To review the potential benefits and adverse effects of genetic tests that may develop, that effectively predict mental illness or variation from the norm on behavior traits. METHOD: A review is offered of the history of genetic-based political policies and racial discrimination. The current status of genetic research in mental disorders is described. Anticipated genetic progress, and derivative tests and limits on their predictive power are considered. RESULTS: There does exist a potential for invidious stigmatization and discrimination, based on genotypes of individuals and allele frequencies in communities, in various transactions such as health care access, employment and education, as well as in more intimate decisions including choice of spouse and decisions to become a parent. CONCLUSIONS: The major uses of valid genetic tests for human behavioral traits will be for development of knowledge on pathophysiology of illness, and for development of new treatment and educational strategies to deal with illness. Some extension of genetic tests into predictions about specific individuals may well occur. Awareness of the potential for discrimination, and a determination to develop culturally sensitive and fair applications of genetic tests, is required to avoid adverse effects on individuals and communities.

Behavior↗

PubMed2002

Cancer patients who experienced diagnostic genetic testing for cancer susceptibility: reactions and behavior after the disclosure of a positive test result.

The aim of this prospective study was to evaluate the consequences of the disclosure of a positive genetic test result to patients affected with cancer. Personal repercussions and patients' behavior with the transmission of their results to relatives were considered. We conducted semistructured interviews with 23 cancer patients identified as carriers of a cancer-predisposing mutation for hereditary breast ovarian or nonpolyposis colorectal cancers, 1 month after the disclosure of the test result. Eight patients spontaneously expressed distressed reactions ("you no longer feel cured"), and 14 patients reported at least one negative feeling (dissatisfied, discouraged, unhappy, or worried), despite expecting to be a carrier. Sixteen patients expressed concerns about the risk of developing another cancer, and 18 were concerned for their children's future, in that they may carry the mutation and develop a cancer. Although 8 patients found that disadvantages of knowing their genetic status outweighed the advantages, all but 1 did not regret having undergone genetic testing. All of the patients transmitted their results to at least one close relative. Although 6 of them expressed difficulties in being the only person who could transmit the information and 9 said it was a heavy responsibility, all except 1 did not want someone else to have to inform their families. Our results illustrate the potential negative impact of diagnostic genetic testing in patients with cancer. This includes distressed reactions and difficulties in transmitting their results to relatives. Future large-scale studies are warranted to confirm our findings.

Adaptation, Psychological↗

PubMed2002

Genetic testing: psychological aspects and implications.

As the number of genes associated with inherited disease continues to grow, researchers and practitioners in behavioral medicine will encounter complex psychological issues faced by individuals at risk for these diseases. A review of the literature concerning prenatal, carrier, and predictive genetic testing suggests that the severity of psychological risks posed by research-based genetic testing is not great. However, subgroups of individuals with particular psychological traits may be more vulnerable to adverse effects. Available data do not provide evidence that genetic testing promotes changes in health-related behaviors. Thus, although there may be less of a role for mental health professionals in the psychological counseling of genetic testing participants, there is a need for research and practice to facilitate health protective behaviors in response to genetic risk information.

Genetic Counseling↗

PubMed2000

Primary care physicians' perceptions of barriers to genetic testing and their willingness to participate in research.

Our objective was to explore the barriers and motivations to: 1) appropriate diffusion of genetic services into primary care practice; and 2) primary care physicians' (PCPs) willingness to participate in clinical studies to assess the safety and effectiveness of emerging genetic technologies. A random sample (n = 994) of PCPs was invited to be interviewed. Of the 80 who agreed, 60 were interviewed, 52 by telephone. A semi-structured guide was used. A questionnaire mailed to 752 of the PCPs was used to elicit information from physicians who did not want to be interviewed. Among interviewees, uncertainty as to the clinical utility and clinical validity of predictive genetic testing were the leading barriers to incorporation of this technology into practice, being mentioned by 60 and 43% of subjects, respectively. Of the 100 (13. 3%) physicians returning the questionnaire who declined to be interviewed, 30% said they would be willing to participate in research on the safety and effectiveness of predictive genetic tests. Of those who were interviewed, 92% were willing to participate in such research. Most physicians do not see genetics as important in their practice today; many anticipate greater importance in the future. The proportion of physicians interested in participating in research to assess the safety and effectiveness of genetic tests is sufficient to make large scale, collaborative, practice-based evaluation feasible. Additionally, participation in research may serve as an effective medium for physician education in genetics.

Adult↗

PubMedDate not supplied

Genetic testing for alpha1-antitrypsin deficiency.

PURPOSE: The Alpha Coded Testing Study investigated the risks, benefits, and psychological impact of home genetic testing for alpha1-antitrypsin deficiency. METHODS: In the study, 996 adult individuals requested and returned a home-administered, confidential, fingerstick blood test. RESULTS: Individuals highly rated the benefits of establishing a diagnosis (82%), helping family members (86%), and anticipating peace of mind (79%). 78% of 239 current smokers reported a high likelihood of smoking cessation if diagnosed with AATD. After testing, more than 60% indicated that they would share the results with family and physicians but < 30% would share results with insurance companies. CONCLUSIONS: Confidential home testing for genetic disorders requires a comprehensive program of participant support.

Adolescent↗

PubMed2004

Genetics and alcoholism among at-risk relatives II: interest and concerns about hypothetical genetic testing for alcoholism risk.

One purpose of this study was to examine hypothetical interest in genetic predisposition testing for alcoholism among at-risk relatives. Qualitative interviews and several quantitative tools were administered to 27 individuals who had at least one first-degree relative affected by alcoholism. Data analysis revealed that participants' interest in genetic testing for susceptibility to alcoholism was moderate. Lower educational level and a stronger belief in 'others' influencing health were related to participants' having a stronger interest in genetic testing. Participants' concerns about future use of genetic testing ranged from doubts about its usefulness in affecting behavior to apprehension regarding detrimental societal effects such as breaches in confidentiality and fear of being labeled an 'alcoholic.' Younger age and stronger interest in genetic testing were associated with deterministic or fatalistic beliefs, while drinking behaviors, gender, and other demographics were not. Participants questioned the utility of this type of testing. Their interest in testing and concerns about its hypothetical use may prove important for at-risk relatives who may face decisions about genetic testing in the future. Data from this study can provide direction for researchers and health care providers as genetic testing for this and other behavioral conditions emerges. Scientists and the public should address the social concerns expressed by participants, including the fear of labeling. Also, we can begin to anticipate characteristics common in those who may have fatalistic responses, and who may possibly make adverse behavior choices, to results from alcoholism susceptibility testing.

Adolescent↗

PubMed2005

Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder.

OBJECTIVE: To increase the awareness among at risk relatives of the availability of genetic testing for a familial disorder while respecting their autonomy and privacy. METHODS: This was a comparison of preintervention and postintervention cohorts of families carried out in a state wide clinical service providing genetic counselling and testing for people at risk of familial adult onset cancer. Unaffected relatives who were not clients of the service in 74 kindreds with familial mutations causing familial breast and ovarian cancer, hereditary non-polyposis colorectal cancer, or Cowden syndrome were included in the study. In the baseline cohort (41 kindreds), family members who were clients of the clinical service and had been shown to be carriers of mutations were asked to advise relatives that genetic testing was available. In the intervention cohort (33 kindreds), the clinical service obtained consent to advise at risk relatives by letter that genetic testing was available. The main outcome measures were: (a) proportion of unaffected first and second degree relatives of the proband in each family whose genetic status was clarified within 2 years of the mutation being identified in the family, and (b) concerns regarding privacy and autonomy voiced by relatives receiving these letters. RESULTS: In the baseline cohort, the average proportion of relatives in each family whose genetic status was clarified was 23%. In the intervention cohort, the average proportion of relatives in each family whose genetic status was clarified was 40% (p = 0.001). None of the relatives in the intervention cohort complained of a breach of privacy or autonomy. CONCLUSION: Clinical services can take an effective and proactive approach to notifying relatives who are not their clients of the availability of genetic testing without compromising principles of privacy and autonomy.

Adolescent↗

PubMed1999

A philosophical critique of decision analysis as a tool in genetic testing.

Decision analysis has been proposed as a method to improve the quality of decisions made by individuals facing choices about genetic testing for Alzheimer disease (AD) and other conditions where information about risk is highly uncertain. This paper provides a philosophical critique of two schools of decision analysis, explaining the conceptual limitations inherent in each approach. A central difference between the two approaches is their stance toward the ontological status of patient preferences and values. Are an individual's preferences and values about genetic testing simply assessed or extracted during decision analysis or are they created during the decision analysis itself? How closely can preferences conform to the axioms of rational choice theory? A case study of one individual's experience with decision analysis demonstrates the strengths and weaknesses of decision analysis in the context of genetic testing for AD.

Alzheimer Disease↗

PubMed1997

The Oncormed approach to genetic testing.

This report describes a commercial laboratory's novel approach to providing genetic testing services to detect BRCA1 mutations in persons with hereditary breast/ovarian cancer. The approach involves the use of institutional review board (IRB)-approved protocols as a paradigm for conducting genetic testing in a commercial setting. We discuss the rationale for this approach and the key elements of the protocol. In addition, we provide data on the first 6 months of implementation of the protocol in 32 clinical sites. A phased testing approach was used, consisting of an allele-specific oligonucleotide assay for the 8 most common BRCA1 mutations, a protein truncation test of exon 11, and direct sequencing of the remaining regions of the gene. Data are presented on the yield of mutation carriers by category of family history and by stage of analysis.

BRCA2 Protein↗

PubMed2005

Referral and experience with genetic testing among women with early onset breast cancer.

The purpose of this study was to determine whether physicians refer women with early onset breast cancer for genetic testing for BRCA1 and BRCA2, and how women respond to being offered testing and use the results. A web-based survey was distributed to 1221 women with early onset breast cancer. The survey included 158 questions divided into the following sections: demographics, family history of cancer, medical history, treatment history, and experience with genetic testing. Of 551 women diagnosed since 1993 who responded to the survey (45.1%), less than half (45%, n = 246) had ever discussed genetic testing with their physician and/or been referred to see a genetic counselor. Women with a family history of cancer (53%) and Ashkenazi Jewish women (81%) were more likely to have been referred. Of those who had discussed testing, 60% had undergone or were interested in testing. Overall 92 women were tested and 19 (20.6%) of these tested positive for a deleterious BRCA1 or BRCA2 mutation. Fourteen (74%) who tested positive subsequently underwent prophylactic surgery. Satisfaction with counseling and the decision to be tested was high. Among women who were not offered testing, the fact that the test had not been offered by their physician (89%), and fear of discrimination (83%) were the two most frequently cited factors for lack of interest in testing. A substantial number of women are not being referred to genetic counseling and/or testing after a diagnosis of early onset breast cancer. Among those who were tested, there was high interest in prophylactic surgery after confirmation of a BRCA1/2 mutation.

Adult↗

PubMed2003

Who gets the information about genetic testing for cancer risk? The role of race/ethnicity, immigration status, and primary care clinicians.

This study identified factors associated with awareness of genetic testing for cancer risk in the US general population. Multiple logistic regression analysis was used to analyze data from the 2000 National Health Interview Survey. The strong predictors were education, race/ethnicity, immigration status, health status, interaction with health professionals, controlling for socioeconomic status, cancer diagnosis, family history of cancer, and perceived personal cancer risk. The substantial lack of awareness of genetic testing among immigrant and ethnic populations warrants further research and tailored educational interventions. Ways to improve quality of patient interactions with non-genetic clinicians in promoting public knowledge of genetic testing for cancer risk are also worthy of further exploration.

Demography↗

PubMed2002

Predictive genetic testing: high risk expectations in the face of low risk information.

The aims of this cross-sectional, questionnaire study were (1) to estimate the proportion of those receiving negative ("low risk") results following predictive genetic testing who expect to undergo clinically unnecessary future screening and (2) to examine the factors associated with this expectation. Of 127 adults receiving negative results following predictive genetic testing for familial adenomatous polyposis (FAP), 54 people (42%) were expected to attend for future bowel screening. The main predictor was doubt about the accuracy of genetic test results. Expecting to attend was also associated univariately with perceiving the chance of developing FAP as higher, being more worried about this, perceiving the test result to be more uncertain and threatening, and holding a behavioral model of the cause of FAP. Attendance for health screening may be influenced by people's perception of the accuracy of genetic tests that they have undergone. Future research should investigate test presentation and influences on test perception.

Adult↗