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PubMed1997

The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective.

OBJECTIVE: Primary caregivers should be aware of recent progress in the genetics of Alzheimer disease (AD) and of the clinical and ethical considerations raised regarding the introduction of genetic testing for purposes of disease prediction and susceptibility (risk) analysis in asymptomatic individuals and diagnosis in patients who present clinically with dementia. This statement addresses arguments for and against clinical genetic testing. PARTICIPANTS: The 20 participants were selected by the investigators (S.G.P., T.H.M., A.B.Z., and P.J.W.) to achieve balance in the areas of genetics, counseling, ethics, and public policy, and to include leadership from related consensus projects. The consensus group met twice in closed meetings and carried on extensive correspondence over 2 years (1995-1997). The project was supported by the National Human Genome Research Institute of the National Institutes of Health. EVIDENCE: All 4 involved chromosomes were discussed in group meetings against a background of information from several focus group sessions with AD-affected families. The focus groups comprised volunteers identified by the Cleveland Area Chapter of the Alzheimer's Disease and Related Disorders Association and represented a variety of ethnic populations. CONSENSUS PROCESS: The first draft was written in April 1996 by the principal investigator (S.G.P.) after the consensus group had met twice. The draft was mailed to all consensus group members 3 times over 6 months for extensive response and redrafting by the principal investigator until all members were satisfied. CONCLUSIONS: Except for autosomal dominant early-onset families, genetic testing in asymptomatic individuals is unwarranted. Use of APOE genetic testing as a diagnostic adjunct in patients already presenting with dementia may prove useful but it remains under investigation. The premature introduction of genetic testing and possible adverse consequences are to be avoided.

Advisory Committees↗

PubMed2004

Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: a comparison of participants and nonparticipants in genetic counseling.

PURPOSE: Data on the actual uptake of genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC) in a clinical sample is still inconclusive. The present study aimed to define the actual uptake of genetic counseling and testing offered to an unselected sample of 140 patients with colorectal cancer, fulfilling clinical criteria (Amsterdam or Bethesda) suggestive of HNPCC, and to identify demographic and psychosocial factors associated with the decision to participate in counseling. METHODS: Cross-sectional survey. Eligible subjects had been consecutively enrolled in a regional tumor registry between 1994 and 1998, and were invited to attend an information session for HNPCC at the time genetic testing for HNPCC became available. Participants and nonparticipants in the information session completed a short questionnaire. RESULTS: The actual uptake rate of the information session in this sample was 26 percent. Participants and nonparticipants were comparable with regard to clinical criteria suggestive of HNPCC, awareness of the potential hereditary predisposition, and previous history of cancer in the family. Some 60 percent of participants experienced pronounced distress related to their potential inheritance of the disorder, compared to 35 percent among nonparticipants. Distress reached a clinically significant level in 28 percent of participants. Restricted communication within the family was observed frequently. Irrespective of groups, a positive attitude toward obtaining a gene test result predominated. CONCLUSIONS: Results suggest that expressed intention and attitude toward genetic testing do not reliably predict actual uptake of counseling or testing. Thorough interdisciplinary counseling should be provided to every patient with clinical criteria suggestive of HNPCC. The considerable distress related to the hereditary disorder should be adequately addressed, as should be communication issues.

Adult↗

PubMed2003

Implications of genetic testing: discrimination in life insurance and future directions.

This article examines the possibility of genetic discrimination in life insurance and discusses the inability of current Australian legislation to deal adequately with genetic test result information. Genetic information has certain features that distinguish it from other medical information and thus a specialist legislative package is required to regulate its use. This article outlines how current practices in the life insurance industry are inconsistent with notions of human rights. Several legislative options are suggested and examined. Given the negative and damaging impact that adverse selection is likely to have on the life insurance industry should the use of all genetic test results be prohibited, an approach which modifies the current regime is recommended. This includes a comprehensive review scheme and the introduction of additional insurance products tailored to individuals suffering from various genetic illnesses or predispositions to future disease.

Australia↗

PubMed2005

Community involvement in developing policies for genetic testing: assessing the interests and experiences of individuals affected by genetic conditions.

Because the introduction of genetic testing into clinical medicine and public health creates concerns for the welfare of individuals affected with genetic conditions, those individuals should have a role in policy decisions about testing. Mechanisms for promoting participation range from membership on advisory committees to community dialogues to surveys that provide evidence for supporting practice guidelines. Surveys can assess the attitudes and the experiences of members of an affected group and thus inform discussions about that community's concerns regarding the appropriate use of a genetic test. Results of a survey of individuals affected with inherited dwarfism show how data can be used in policy and clinical-practice contexts. Future research of affected communities' interests should be pursued so that underrepresented voices can be heard.

Achondroplasia↗

PubMed1993

Insurance and genetic testing: where are we now?

Basic research will spur development of genetic tests that are capable of presymptomatic prediction of disease, disability, and premature death in presently asymptomatic individuals. Concerns have been expressed about potential harms related to the use of genetic test results, especially loss of confidentiality, eugenics, and discrimination. Existing laws and administrative policies may not be sufficient to assure that genetic information is used fairly. To provide factual information and conceptual principles upon which sound social policy can be based, the Human Genome Initiative established an Ethical, Legal, and Social Issues Program. Among the first areas to be identified as a priority for study was insurance. This paper provides a review of life, health, and disability insurance systems, including basic principles, risk classification, and market and regulatory issues, and examines the potential impact of genetic information on the insurance industry.

Persons with Disabilities↗

PubMedDate not supplied

The influence of question wording on assessments of interest in genetic testing for breast cancer risk.

The purpose of this study was to compare the results of different measures of interest in genetic testing for breast cancer risk. A telephone survey of a random sample of women without breast cancer was conducted in British Columbia, Canada. Interest in genetic testing for breast cancer risk was measured in three ways: (1) an unprompted assessment of interest, (2) assessment of interest when prompted with a hypothetical offer of testing, and (3) assessment of interest when provided with supplementary information. Substantial differences in reported levels of interest in genetic testing were observed across the different assessment approaches, with the unprompted assessment of interest resulting in lowest levels of interest. The highest levels of interest were observed when the assessment of interest was prompted with a hypothetical offer of testing. Factors predicting interest in genetic testing varied depending on the assessment measure used. These findings suggest that more attention must be given to measurement issues, including complete reporting of measures used in research, development of standardized approaches to assessing interest in genetic testing, and more rigorous psychometric evaluations of measures of interest in genetic testing.

Adult↗

PubMed2003

[Psychosocial factors associated with genetic testing for certain hereditary types of neoplasms].

Mutations in predisposing genes for some of the hereditary forms of cancer exhibit autosomal dominant mode of inheritance. Introduction of genetic tests for these mutations to the clinical practice initiated studies focused on the psychosocial factors associated with genetic testing. Undergoing the genetic testing is a stressful experience for both the healthy individuals in risk and the patients already affected with cancer. The psychosocial characteristics of the tested individual influence not only the psychological functioning during the testing but also the acceptance of the test, and generally his life style and health practices. Psychological support during the genetic testing process is mostly provided by the genetic counsellor. The findings of psychosocial studies might be therefore helpful for the focusing of the genetic consultation, and fulfilling the client needs and expectations towards testing. Factors of motivation, psychological state, influence of family situation and support, and optionally the involvement of a psychologist into the process of genetic testing are observed.

Breast Neoplasms↗

PubMed2002

Guidelines for the appropriate use of genetic tests in infertile couples.

Research on genetic causes of male and female infertility rapidly expanded in the last years, following the development of in vitro fertilising techniques. Genetic tests are now available to explore the cause of the infertility and assess the risk of a given couple to transmit its genetic characteristics. This allows at-risk couples to take an informed decision when electing for a medically assisted reproduction. It also allows the professionals to offer a prenatal diagnosis when appropriate. Thus, the genetic work-up of the infertile couple has become good practice for an appropriate diagnosis, treatment and prognostic assessment. The lack of national or international rules for the genetic approach to the infertile couple, prompted the Italian community of professionals in the field of reproductive medicine to join and set up guidelines for the genetic diagnosis of male and female infertility. The group of clinical and research experts is representative of 12 national scientific societies and was supported by external experts from four international societies. We examine the clinically relevant genetic causes of male and female infertility and suggest the category of patients for which each genetic test is recommended or optional, both for an accurate diagnosis and prior to ART.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗

PubMed2002

Worry and attitude of men in at-risk families for prostate cancer about genetic susceptibility and genetic testing.

BACKGROUND: The aim of this study was to evaluate worry about genetic susceptibility and the attitude of men with family history of prostate cancer (CaP) toward genetic testing. METHODS: Three hundred seventy-five eligible first-degree relatives (FDR) of men with CaP, were asked to participate in a screening and to fill out a survey covering the worry about genetic susceptibility and interest in genetic testing. RESULTS: Of the 375 candidates contacted, 277 completed the survey, and had undergone PSA measurement. Sixty-four percent worried a little or not at all about inherited predisposition to CaP, while the remainder worried a lot or extremely. The candidates who worried a lot or extremely were men with high levels of durable anxiety disposition (STAI trait), who had undergone a previous screening procedure and men with sons. Ninety-eight percent of men expressed their interest in undergoing genetic testing. The most motivated candidates to have the test done were men with several relatives with CaP. CONCLUSIONS: The level of worry about genetic susceptibility was low and there was a concrete interest in genetic testing in FDR of men with CaP. This interest increased with the number of CaP in the family.

Adult↗

PubMed2004

Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial.

CONTEXT: As the availability of and demand for genetic testing for hereditary cancers increases in primary care and other clinical settings, alternative or adjunct educational methods to traditional genetic counseling will be needed. OBJECTIVE: To compare the effectiveness of a computer-based decision aid with standard genetic counseling for educating women about BRCA1 and BRCA2 genetic testing. DESIGN: Randomized controlled trial conducted from May 2000 to September 2002. SETTING AND PARTICIPANTS: Outpatient clinics offering cancer genetic counseling at 6 US medical centers enrolled 211 women with personal or family histories of breast cancer. INTERVENTIONS: Standard one-on-one genetic counseling (n = 105) or education by a computer program followed by genetic counseling (n = 106). MAIN OUTCOME MEASURES: Participants' knowledge, risk perception, intention to undergo genetic testing, decisional conflict, satisfaction with decision, anxiety, and satisfaction with the intervention. Counselor group measures were administered at baseline and after counseling. Computer group measures were administered at baseline, after computer use, and after counseling. Testing decisions were assessed at 1 and 6 months. Outcomes were analyzed by high vs low risk of carrying a BRCA1 or BRCA2 mutation. RESULTS: Both groups had comparable demographics, prior computer experience, medical literacy, and baseline knowledge of breast cancer and genetic testing, and both counseling and computer use were rated highly. Knowledge scores increased in both groups (P<.001) regardless of risk status, and change in knowledge was greater in the computer group compared with the counselor group (P =.03) among women at low risk of carrying a mutation. Perception of absolute risk of breast cancer decreased significantly after either intervention among all participants. Intention to undergo testing decreased significantly after either intervention among low-risk but not high-risk women. The counselor group had lower mean scores on a decisional conflict scale (P =.04) and, in low-risk women, higher mean scores on a satisfaction-with-decision scale (P =.001). Mean state anxiety scores were reduced by counseling but were within normal ranges for both groups at baseline and after either intervention, regardless of risk status. CONCLUSIONS: An interactive computer program was more effective than standard genetic counseling for increasing knowledge of breast cancer and genetic testing among women at low risk of carrying a BRCA1 or BRCA2 mutation. However, genetic counseling was more effective than the computer at reducing women's anxiety and facilitating more accurate risk perceptions. These results suggest that this computer program has the potential to stand alone as an educational intervention for low-risk women but should be used as a supplement to genetic counseling for those at high risk.

Adult↗

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↗