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PubMed2002

[Genetic tests in the neurological disorders].

Most of the genetic tests for infectious diseases have few ethical problems and directly link to treatments. On the other hand, there are many problems in performing genetic tests for hereditary neurological disorders without essential treatments. Patients who undergo a genetic test usually get few benefits when they have a positive result. Moreover, the results may influence on their family members' daily lives. Therefore, we should be careful in genetic testing of the hereditary neurological disorders, and perform sufficient informed consent, genetic counseling of the patients and their family members, and precise standardization.

Genetic Counseling↗

PubMed1999

Genetic testing: a conceptual exploration.

This paper attempts to explore a number of conceptual issues surrounding genetic testing. It looks at the meaning of the terms, genetic information and genetic testing in relation to the definition set out by the Advisory Committee on Genetic Testing in the UK, and by the Task Force on Genetic Testing in the USA. It argues that the special arrangements that may be required for the regulation of genetic tests should not be determined by reference to the nature or technology of the test, but by considering those morally relevant features that justify regulation. Failure to do so will lead to the regulation of genetic tests that need not be regulated, and would fail to cover other tests which should be regulated. The paper also argues that there is little in the nature of the properties of gene tests, using DNA or chromosomes, that in itself justifies a special approach.

Advisory Committees↗

PubMed1997

Molecular genetic testing for adult-onset disorders: the evolving laboratory, physician, patient interface.

Molecular genetics is providing the power to predict and diagnose a variety of diseases. This is an evolving field, with new information being gained at a very rapid rate. Ultimately the molecular tools should be available to prevent and/or cure a number of diseases with genetic etiology. The molecular genetics laboratory is playing a pivotal role in effecting the utilization of this technology. However, molecular genetic testing is in many ways unlike other clinical laboratory testing. The process of molecular genetic testing and counseling is complex. The laboratory offering molecular genetic testing must be able to assess pedigrees, decide the proper test to perform and provide interpretation of the tests results obtained. Although standards governing the use of high-complexity genetic tests are evolving it is clear that the laboratory offering these tests will have to have on staff personnel trained specifically in molecular genetics. The challenge will be to stay abreast of evolving technology as well as standards and recommendations governing the use of these tests. We will review the process of molecular genetic testing and the issues that must be considered by laboratories who offer these tests.

Accreditation↗

PubMed2003

Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients.

The psychological aspects of genetic testing for hereditary breast and ovarian cancer (HBOC) in cancer patients (diagnostic genetic testing) have so far received less attention than predictive genetic testing in unaffected persons. Our study is aimed at gaining insight into the psychological aspects of diagnostic genetic testing and at formulating practical recommendations for counseling. Cancer patients often play a key role in the communication of information to relatives because they were the first individuals to be tested in the family. The present article focuses on the communication to close and distant relatives about the hereditary cancer, the genetic test and its result. Participants previously diagnosed with breast and/or ovarian cancer, with a family history of these cancers and who requested DNA-testing, were eligible for the study. Of the 83 eligible patients who could be contacted, 63 participated (response rate = 76%). Twenty-six participants were members of a family where a BRCA1 or BRCA2 mutation was detected. The DNA-analysis in the family of 37 participants had not revealed any mutation. Data were collected by semi-structured interviews and psychological tests and questionnaires. The dissemination of information was largely focused on first-degree relatives. Communication to distant relatives about the genetic test and its result was problematic. Other than the genetic test result and age as "objective" predictors of informing distant relatives, little and/or superficial contact seemed to be the major subjective barrier to informing distant relatives. Furthermore, the knowledge about HBOC of these messengers reveals several shortcomings. Communication within the family should receive special attention during counseling.

Breast Neoplasms↗

PubMed2017

Predictors of BRCA1/2 genetic testing among Black women with breast cancer: a population-based study.

Evidence shows that Black women diagnosed with breast cancer are substantially less likely to undergo BRCA testing and other multipanel genetic testing compared to White women, despite having a higher incidence of early-age onset breast cancer and triple-negative breast cancer (TNBC). Our study identifies predictors of BRCA testing among Black women treated for breast cancer and examines differences between BRCA testers and nontesters. We conducted an analysis of 945 Black women ages 18-64 diagnosed with localized or regional-stage invasive breast cancer in Pennsylvania and Florida between 2007 and 2009. Logistic regression was used to identify predictors of BRCA 1/2 testing. Few (27%) (n = 252) of the participants reported having BRCA testing. In the multivariate analysis, we found that perceived benefits of BRCA testing (predisposing factor) ([OR], 1.16; 95% CI: 1.11-1.21; P < 0.001), income (enabling factor) ([OR], 2.10; 95% CI: 1.16-3.80; p = 0.014), and BRCA mutation risk category (need factor) ([OR], 3.78; 95% CI: 2.31-6.19; P < 0.001) predicted BRCA testing. These results suggest that interventions to reduce disparities in BRCA testing should focus on identifying patients with high risk of mutation, increasing patient understanding of the benefits of BRCA testing, and removing financial and other administrative barriers to genetic testing.

Adolescent↗

PubMed2003

Pharmacogenomics, genetic tests, and patent-based incentives.

Pharmacogenomics promises to revolutionize medicine by using genetic information to guide drug therapy. Genetic tests should help doctors improve drug safety and efficacy by better matching patients and drugs. This chapter evaluates the effectiveness of patent-based incentives to create genetic tests, and considers the optimal mix of public and private sector pharmacogenomic research and development (R&D). Drug patent owners have a strong incentive to develop genetic tests that predict adverse drug reactions and allow them to market drugs that otherwise would be shelved. Incentives are also strong for genetic tests that are created as part of the drug development process. Incentives tend to be weaker for genetic tests that are used in conjunction with existing drugs. Drug patent owners might gain or lose profit from the introduction of genetic tests into existing drug markets. Profits may fall because of lost sales, or profits may rise because drugs are more valuable to appropriate patients, and because drugs become more differentiated. Public sector R&D should target genetic tests that are likely to be underprovided by the private sector because private returns are low relative to social returns, or private costs are high relative to social costs. Private returns are relatively low when the rate of adoption of a genetic test is apt to be low, when test results increase consumer heterogeneity and consumer bargaining power, and when a test reveals information relevant to the use of more than one drug. Private costs are relatively high when test innovators need to obtain costly patent and trade secret licenses.

Ethics, Medical↗

PubMed2006

Ethical, social and legal implications of genetic testing in liver disease.

Advances in molecular genetics challenge the hepatology community to understand and implement genetic knowledge. Despite excitement about the potential benefits of new genetic information, concerns have been raised about the inappropriate use of genetic testing, clinicians' incorrect ordering and misinterpretation of test results, and discrimination in employment and insurability based on tests results. Among the public there is fear and mistrust, in part based on horrifying historical events that were gross violations of medical ethical standards. Clinicians, scientists, patient advocacy groups, and government agencies worldwide are debating the optimal legal protections to prevent abuse. In addition, these groups are developing clinical guidelines for optimal use. Traditional ethical and legal standards of confidentiality between physicians and their patients are under scrutiny. A new principle, "the duty to warn," is emerging that has applications specific to genetic testing and may conflict with the duty to maintain patient confidentiality. Emerging ethical, legal, and social issues involve the appropriate use and protection of confidential data in tissue and serum banks. Education of the profession and the public at many levels will increase the likelihood that the unraveling of the human genome will maximally benefit society. If fear of genetic testing can be alleviated, selection bias in research could be reduced. Professional and lay organizations concerned with liver disease should consider a more active role in the public and professional debate, and foster education at all levels.

Attitude of Health Personnel↗

PubMedDate not supplied

Genetic information leaflets: influencing attitudes towards genetic testing.

PURPOSE: This article explores how a "neutral" genetics information leaflet influenced people's attitudes to be more positive toward predictive genetic testing. This is of concern, given the desire within clinical genetics and population based testing to provide information that informs choice without directing toward, or against, testing. METHOD: Four studies are reported. The first two investigated presentation (glossy and colored vs. black and white), and method of reading (read only vs. read followed by probing questions). The second two investigated content, using "think aloud," "card sort," and delayed recall tasks. RESULTS: Those receiving a glossy leaflet expressed more positive attitudes and more interest in undergoing testing than those receiving a black and white leaflet, and those who were asked questions about what they had read were more positive about genetic testing than those who only read the leaflet. Recall one week later varied from 72% to 28%, depending on type of information. Information that described the advantages of genetic testing or discussed genes and genetic testing in relation to disease were well recalled and rated positively. Attitudes toward information ranged from 100% positive (e.g., what diseases genetic tests are available for) to 0% positive (e.g., the meaning of a positive result). CONCLUSION: These results show that quite small changes within a leaflet can change attitudes toward genetic testing. This is of concern, given the association between attitudes toward a behavior and undergoing that behavior. The form, method of presentation, and content of genetic information leaflets should be evaluated for impact on attitude and decisions before they are used clinically.

Adolescent↗

PubMed2000

Knowledge about genetic risk for breast cancer and perceptions of genetic testing in a sociodemographically diverse sample.

Informed consent for genetic testing for breast-ovarian cancer susceptibility requires that women understand basic concepts about the inheritance of cancer susceptibility and the benefits and risks associated with genetic testing. Women awaiting routine medical services (N = 220) were surveyed about their knowledge of breast cancer and cancer genetics and their perceptions of genetic testing and personal risk. There were no racial differences in median income or mean level of education. Compared to Caucasian women, African American women knew significantly less about breast cancer and about genetic risk for breast cancer. African American women had different psychological, social, and economic concerns as evidenced by how they weighted the benefits and risks of genetic testing. This study is the first to assess several dimensions of informed consent for genetic testing among a sociodemographically diverse group. The findings should enable health professionals to target the African American and lower-income populations with the appropriate education and counseling.

Adult↗

PubMed2000

Predictive genetic testing in diabetes: a case study of multiple perspectives.

Genetic testing is now possible in maturity onset diabetes of the young (MODY), an unusual genetic subtype of diabetes. To date, there has been no research into the implications of genetic testing for MODY families. The case study of the first known instance of predictive genetic testing for diabetes described in this article focuses on the perspectives of the family and the health care professionals involved in the decision-making process. Open-ended interviews were conducted before and after the predictive test. Content analysis highlighted four key areas: autobiographical experiences, motivations for testing, competing priorities in genetic counseling, and differing attitudes to predictive testing for children. Reactions to the predictive test result are presented. The implications of these findings for the provision of predictive genetic testing in diabetes are considered.

Adult↗

PubMed2006

DISCERN-Genetics: quality criteria for information on genetic testing.

Information currently available to the public is inadequate to support those deciding to consent to a genetic test. As genetic knowledge continues to evolve, more people will be forced to consider the complex issues raised by genetic testing. We developed and tested criteria to guide the production and appraisal of information resources produced for the public on genetic testing. Lay people with and without experience of a genetic condition, and providers and producers of health information appraised and listed the criteria they used to rate the quality of a sample of information on cystic fibrosis, Down's syndrome, familial breast cancer, familial colon cancer, haemochromatosis, Huntington's disease, sickle cell disease, and thalassaemia. These genetic conditions represent different populations, disease pathways, and treatment decisions. The information medium could be written, electronic, CD, audio or video. The quality criteria were tested iteratively (using the weighted kappa statistic) for the level of agreement between users applying successive drafts of the criteria to different samples of information. The final set of criteria consisted of 19 questions plus an overall quality rating. Chance corrected agreement (weighted kappa) among the appraisers for the overall quality rating was 0.61 (0.60-0.62). The criteria cover the scope of the information resources, information on the condition, the test procedure and results, decision making, and the reliability of the information. The DISCERN-Genetics criteria will guide the production and appraisal of information produced for the public, and will facilitate the involvement of the public in decisions around genetic screening and testing.

Female↗

PubMed2002

Genetic testing considerations for oral medicine.

The availability and integration of genetic information into our understanding of normal and abnormal growth and development are driving important changes in health care. These changes have fostered the hope that the availability of genetic information will promote a better understanding of disease etiology and permit early, even pre-symptomatic diagnosis and preventative intervention to avoid disease onset. Expectations for this proactive health care approach are fueled by the technological and scientific advances that have fundamentally changed how we perceive human diseases. Among the clinical applications of this information, genetic testing applications are likely to expand significantly and may broadly impact the clinical practice of dentistry. In this changing environment, it is vital that dental care providers, policymakers, and consumers become aware of important issues related to genetic testing and the incorporation of genetic information into the diagnosis and treatment of common diseases that involve the oral cavity. We must also guard against unrealistic expectations and calls for genetic tests that are not valid. To realize the promise of this new molecular genetics, we must understand the possibilities and responsibly incorporate newly emergent technologies into the evolving discipline of dentistry. This paper overviews many of the important issues that need to be considered in the application of genetic testing to oral medicine.

Advisory Committees↗

PubMed1999

Understanding probabilistic risk in predisposition genetic testing for Alzheimer disease.

The utility of genetic testing in preventing the onset of conditions such as Alzheimer disease (AD) depends upon categorizing individuals based on their "risk" of illness. Although no strategies to prevent the occurrence of AD have been proven effective, the promise of the new molecular medicine is based on the assumption that those "at risk" can be identified, counseled about their likelihood of developing a disease, and prescribed specific preventive interventions. We suggest that this paradigm of disease prevention through risk stratification has limitations that have not been fully explored. Within the fields of cognitive and health psychology, research has addressed how individuals understand the numeric presentation of uncertain future events; this research often focuses on the "perceptual pathology" of lay people. The uncertainty inherent in the risk estimates themselves is rarely considered, nor has research addressed how those risk estimates are created. There has been limited work to date focused on genetic risk assessment, and little is known about how individual might understand the meaning or consequences of being at genetic risk for AD. An emerging social science critique of concepts of risk in genetic medicine offers a broader perspective, examining the process of producing scientific risk estimates as well as the response of individual patients, such as the experience of embodied risk that is central to genetic testing. Making fully informed choices about genetic testing for AD may prove more difficult than our current model of ethical practice suggests.

Alzheimer Disease↗

PubMed1997

Clinical molecular genetic testing.

Recent advances in human molecular genetics are rapidly producing clinical genetic tests for a variety of conditions. In addition to tests for rare genetic disorders, tests for common illnesses with mixed genetic and environmental etiologies are being developed. While practice guidelines for test utilization are being developed, many physicians would benefit from additional knowledge about the design and limitations of these tests. This article reviews the genetic background necessary to understand linkage-based and direct mutations tests and discusses some of the issues physicians must consider when selecting an appropriate test for a given clinical situation.

Genetic Techniques↗

PubMedDate not supplied

Newborn screening and genetic testing.

New screening techniques and diagnostic tests for genetic diseases available for newborn screening can provide information about many diseases long before they are clinically detected. However, this information creates complex questions and ethical dilemmas regarding which newborns should be tested, when testing should occur, availability and costs of tests, and how families should be counseled. There is no national policy regarding newborn screening, which leads to great variation among states' newborn screening programs. This article reviews newborn genetic testing and provides a blueprint for clinicians to improve practice by incorporating into their care knowledge of new developments in newborn testing and screening.

Genetic Counseling↗

PubMed2003

Understanding why negative genetic test results sometimes fail to reassure.

A proportion of those receiving negative results following predictive genetic testing desire future bowel screening. This is despite a negative result meaning a general population risk of 1:7500 and despite bowel screening being experienced as aversive and clinically unnecessary. This study aimed to investigate perceptions of risk, illness, and tests amongst those receiving negative results following predictive genetic testing. Interviews with nine people receiving negative genetic test results for familial adenomatous polyposis (FAP) were analyzed using the qualitative method, interpretative phenomenological analysis (IPA). Those not reassured by negative genetic test results perceived a continuing risk to themselves and to their children. Two sets of perceptions emerged that might explain this: (1). perceptions of the genetic basis of the condition (FAP). Although the condition was perceived to be genetic, genetic status was seen as transient, so a result today could not predict the future. The condition was also seen as caused by factors other than genes, so information about only one risk factor could not be reassuring. (2). Perceptions of the genetic test. There was a lack of conviction in the ability of the genetic test, based on a blood sample, to predict a disease located in the bowel. These results suggest that some individuals receiving negative test results are not reassured because of their representations of the cause of their condition and the nature of the tests they undergo. It may be that eliciting and, when appropriate, changing people's representations prior to testing may enable those receiving negative results to be more reassured about their residual risk.

Adenomatous Polyposis Coli↗

PubMed2004

Public interest in genetic testing for susceptibility to heart disease and cancer: a population-based survey in the UK.

BACKGROUND: Given the current concerns about the clinical validity of commercially marketed genetic tests for multifactorial diseases, there is a surprising dearth of information about what public demand might be for genetic tests for any complex diseases other than cancer. The aim of this study was to examine interest in genetic testing for the most common multifactorial disease, heart disease, and to compare it with interest in testing for cancer in a general population sample that had not received detailed information about genetic tests. METHODS: Interest in genetic testing for heart disease susceptibility was surveyed and compared to interest in genetic testing for cancer susceptibility among a nationally representative sample of 1,960 British adults as part of the Office for National Statistics Omnibus survey. RESULTS: Sixty-nine percent of respondents expressed interest in being tested for genetic susceptibility to heart disease. Men, people aged 45-60 years, those with less education, and those with a family history were most interested in genetic testing for heart disease. Sixty-four percent of respondents expressed interest in genetic testing for susceptibility to cancer, and gender, age, and education, but not family history, were associated with interest. CONCLUSIONS: Interest in genetic testing for susceptibility to both heart disease and cancer was high, with the most educated individuals being the least interested in testing. Although the shift toward the 'expert patient' is actively encouraged and consistent with today's health policies, there is considerable and justifiable concern about some of the genetic tests for multifactorial diseases that are currently being marketed directly to the public. The high level of initial interest in the general public found in this study supports the need for a public education program around genetic testing for multifactorial diseases.

Adolescent↗

PubMed2003

Interaction of genetic counselors with molecular genetic testing laboratories: implications for non-geneticist health care providers.

The availability of molecular genetic tests for the identification of mutant gene carriers, and for assessing individual genetic response to pharmacologic agents, infectious agents, and other environmental exposures, is expected to result in the increased use of the molecular genetic testing laboratory by primary care physicians. However, a number of concerns have been raised about such testing including the need for safeguards to protect patient privacy, and if the interface between genetic testing laboratories and the ordering physician facilitates the appropriate clinical use of the test result. In this study, genetic counselors were surveyed to determine their practices with regard to the clinical issues of informed consent and confidentiality in the context of genetic testing, and to assess their level of satisfaction with the reporting practices of molecular genetic testing laboratories. The results of this survey revealed that there is variability in the practices of genetic counselors with regard to obtaining informed consent, and that there are areas for improvement with regard to molecular genetic test reports, particularly in terms of interpretation of results.

Counseling↗