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PubMed2006

The psychological impact of genetic testing on parents.

AIM AND OBJECTIVES: The aim of this descriptive study was to explore the psychological impact of genetic testing on parents whose children have been referred for genetic testing. BACKGROUND: Genetic tests enable individuals to be informed about their health status and to have the opportunity of early diagnosis and treatment of their diseases. However undergoing genetic testing and receiving a positive test result may also cause stress and anxiety. STUDY DESIGN AND METHOD: This descriptive study was carried out at the genetic departments of two university hospitals in Ankara. The sample of this study consisted of 128 individuals whose children have been referred for chromosomal analysis. Data were collected through using a semi-structured interview method with a data collection form and the anxiety inventory and analysed using the percentages and independent samples t-test. RESULTS: The majority of our participants experienced distress before genetic testing. Their general trait anxiety score before receiving the test results was 47.38, and following the test results the state anxiety score was 50.65. Having a previous child with an abnormality, a positive test result, and being a mother elevated the anxiety of individuals. CONCLUSION: This paper supports the findings of previous studies, which indicated that genetic test results might lead to anxiety in individuals and reveals the importance of genetic counselling. RELEVANCE TO CLINICAL PRACTICE: As the results of this study indicated, genetic testing causes distress and anxiety in individuals. Nurses can play an important role in minimizing anxiety of parents whose children undergo genetic testing by providing information about genetic testing and by taking part in the counselling process.

Adult↗

PubMed2006

Do patients with inflammatory bowel disease want genetic testing?

BACKGROUND: Inflammatory bowel disease (IBD) is a complex genetic disorder characterized by nonmendelian inheritance, incomplete penetrance, and disease susceptibility but not disease certainty. Genotype and phenotype associations are described, but the level of interest of patients with IBD in genetic testing for themselves or at-risk family members remains unknown. Thus, the goal of this study was to assess the interest of patients with IBD in genetic testing and their willingness to accept the uncertainty inherent in complex genetics. MATERIALS AND METHODS: Consecutive outpatients with IBD were recruited to complete a 57-item self-administered survey. The survey included a layperson explanation of the limits of IBD genetics. A 5-point Likert scale was used to determine willingness to undergo genetic testing to determine diagnosis, prognosis, and treatment; to help their family; and to advance medical knowledge. The IBD Questionnaire, a validated measure of the health status attitudes of patients with IBD, was used. To determine limits of patient interest in testing family members, the standard reference gamble paradigm was used. Patients were presented with situations for the genetic test with various levels of certainty in 10% decrements starting with 100%. They indicated the lowest degree of certainty that they would accept to test their family member. RESULTS: One hundred fourteen patients (mean age 38.4 years; 48.2% women) completed the survey. Of these 114, 71.9% (82) had Crohn's disease. Among the patients who answered questions on self-willingness, 76.8% (86 of 112) would undergo testing for diagnostic confirmation, 81.3% (91 of 112) for prognostic value, 88.4% (99 of 112) for therapeutic decision making, and 85.0% (96 of 113) for advancement of medical knowledge. We found that 28.1% of patients (32 of 114) had a first-degree relative with IBD. Those patients with a first-degree relative with IBD were more willing to undergo genetic testing than those without a first-degree relative with IBD (raw score on self-willingness 4.62 vs 4.36; P=0.026). There was no significant association between patients' health status and their willingness to undergo genetic testing (IBD Questionnaire score and raw score on self-willingness; Spearman's correlation coefficient -0.06; P=0.51). We also found that 88.6% of patients (93 of 105) indicated an interest in testing family members if the test provided absolute certainty of future disease. The average lowest level of certainty these patients were willing to accept was 42.2%. CONCLUSIONS: Despite the complexity of IBD genetics, most patients with IBD are interested in testing and willing to accept a variable degree of uncertainty about the results. An important minority of patients does not wish to be tested. Future work should better identify the reasons for these different attitudes. This information should be factored into plans for widespread clinical testing.

Adult↗

PubMed2000

Behavioral risk factors among women presenting for genetic testing.

Considerable research attention has been given to the impact of genetic testing on psychological outcomes. Participation in genetic testing also may impact on health behaviors that increase the risk of cancer and other chronic diseases. The purpose of this study is to describe behavioral cancer risk factors of women who requested genetic testing for breast and ovarian cancer susceptibility (BRCA1, BRCA2). Before participation in a genetic testing program, 119 women completed a series of questionnaires designed to assess their health behaviors, perception of risk, and depressive symptomatology. Eight percent of participants were current smokers, 27% did not engage in at least moderate exercise, 46% did not regularly protect themselves from the sun, 39% did not consume at least five servings of fruits and vegetables per day, and 9% drank at least one alcoholic beverage per day. Poisson regression analysis revealed that age was the only predictor of behavioral risk profiles, with older women having fewer cancer risk behaviors. These patients who presented for genetic testing generally had better health behaviors than the general population. However, given their possible high-risk status, these patients should consider further improving their preventable cancer risk factors and, in particular, their diet, sun protection, and physical activity levels. Inclusion of behavioral risk factor counseling in the context of the genetic testing process may be an important opportunity to reach this at-risk population.

Adult↗

PubMed2004

Molecular genetic testing for inherited disorders.

This review focuses on molecular genetic testing for heritable disorders. Molecular genetic testing has generated tremendous interest because of the scientific and social hype surrounding the Human Genome Project, the accelerating rate of gene discovery, the quick transition of scientific discoveries into clinically applicable genetic tests and the unique nonmedical applications of genetic testing. All of these developments have been superimposed upon increasing individual autonomy in medical care and the pervasive information-seeking behavior of the Information Age.

DNA Mutational Analysis↗

PubMed2005

Impact of genetic testing on complex diseases.

OBJECTIVE: Wide applications for genetic testing in the clinical care of complex diseases have been discussed. However, it has never been quantified to what extent genetic testing could eventually be useful in the clinical care of common disorders. We aimed to quantify the theoretically possible utilization in common ischemic stroke, an example of a complex disease. METHODS: We computed the possible impact of genetic testing on risk assessment, secondary prevention and prognosis of ischemic stroke. This was done for hypothetical genotypes with different frequencies and effects. RESULTS: To apply pharmacogenetic secondary prevention based on a genotype with a frequency of 10% and 33% risk reduction, 204 subjects would have to be screened and 110 given genotype specific treatment for 1 year, in order to prevent one recurrent stroke, compared with standard therapy. The application of genetic testing seems to be less promising in risk assessment and the assessment of prognosis of common ischemic stroke. CONCLUSIONS: The highest impact of genetic testing on clinical practice of stroke will be in the areas of secondary prevention. Given the weak effects of reported susceptibility genotypes, it is theoretically unlikely that genetic screening will be used for the assessment of risk or prognosis of a complex disorder, except for Mendelian types of disease.

Aged↗

PubMed2003

Quality assurance in human molecular genetics testing: status and recommendations.

OBJECTIVE: The role of genetic testing has expanded with rapidly developing technology and completion of the International Human Genome Project. Development of universally acceptable quality control methods and quality assurance standards trails technology. The principle that high-quality genetic testing is important for public health motivated the Centers for Disease Control and Prevention to formulate ways for improving quality assurance of human molecular genetics testing. PARTICIPANTS: Twenty-eight panelists were chosen based on expertise in molecular genetics testing and knowledge of quality assurance practices. Representatives of professional organizations, industries, and federal agencies participated in one or more of 3 panel meetings. Consensus recommendations were developed by the 15 panelists in the third meeting. EVIDENCE: Evidence was derived from experts' opinion during 3 panel meetings. Data compiled through laboratory visits and literature review were used as reference information. Need for this project was derived from the Final Report of the Task Force on Genetic Testing, produced by the National Institutes of Health and the Department of Energy in 1997, and the Summary Report of the Subcommittee Meeting on Genetics of the Clinical Laboratory Improvement Act Advisory Committee in 1997. CONSENSUS PROCESS: Research and development needs were identified using a participatory visioning approach. A modified nominal group process was used to reach consensus. CONCLUSIONS: Five core consensus recommendations were made: research for developing positive samples for quality assurance purposes, performance evaluation programs supplementing those in existence, establishment and support of laboratory-oriented consortia, establishment of a laboratory-focused database, and support of molecular genetics training programs.

Centers for Disease Control and Prevention, U.S.↗

PubMed1994

Knowledge of genetics and attitudes toward genetic testing in two hereditary ataxia (SCA 1) kindreds.

Molecular genetic predictive or prenatal genetic testing is now possible in families with one form of adult-onset, autosomal dominant ataxia (SCA 1). Before the SCA 1 gene was isolated, we began a study of the knowledge of genetics, the perception of the disease, and the intended use of genetic testing among members of two large SCA 1 kindreds. Questionnaires were sent to 210 consenting affected, at-risk, and spouse members of two SCA 1 kindreds; data from the 117 respondents were analyzed on a personal computer. Sixty-nine percent of respondents thought predictive testing (by genetic linkage) should be made available immediately, and 42% thought prenatal testing should be made available. The kindreds differed in several important aspects: knowledge of genetic concepts, family size, and anticipated emotional responses to genetic testing. No respondent had obtained individualized genetic counseling. There is moderate interest in genetic testing for this fatal neurodegenerative disease of adulthood. Members of our kindreds have not received genetic counseling outside of the research setting. Finally, factors specific to a particular kindred may influence or predict individual responses to genetic testing.

Adult↗

PubMed1996

Emotional and behavioral responses to genetic testing for susceptibility to cancer.

As genetic testing for susceptibility to cancer becomes more widely available, cancer-care providers will become more involved in counseling patients about cancer risks and the meaning of genetic test results. As a result, oncologists and oncology nurses need to be aware of the unique psychological issues and challenges posed by genetic testing for cancer susceptibility. This paper first describes a psychological profile of individuals who are likely to opt for such testing, based on extrapolation from studies of people at high risk of cancer. It also discusses the possible adverse emotional responses individuals may have to learning test results, and offers suggestions for preventing or lessening these psychological consequences. In addition, the article explores a wide range of issues relating to the genetic counseling process and the impact of genetic information on family relationships.

Adaptation, Psychological↗

PubMed2003

Differences between African Americans and Whites in their attitudes toward genetic testing for Alzheimer's disease.

The possibility of predictive genetic testing for Alzheimer's disease (AD) has prompted examination of public attitudes toward this controversial new health-care option. This is the first study to examine differences between Whites and African Americans with regard to: (1) interest in pursuing genetic testing for AD, (2) reasons for pursuing testing, (3) anticipated consequences of testing, and (4) beliefs about testing. We surveyed a convenience sample of 452 adults (61% white; 39% African American; 78% female; mean age = 47 years; 33% with family history of AD). Both racial groups indicated general interest in predictive genetic testing for AD, viewed it as having many potential benefits, and believed it should be offered with few restrictions. However, in comparison to whites, African Americans showed less interest in testing (p < 0.01), endorsed fewer reasons for pursuing it (p < 0.01), and anticipated fewer negative consequences from a positive test result (p < 0.001). These preliminary findings show important distinctions between whites and African Americans in their attitudes toward genetic testing for AD. These differences may have implications for how different racial and ethnic groups will respond to genetic testing programs and how such services should be designed. Future research in real-life testing situations with more representative samples will be necessary to confirm these racial and cultural differences in perceptions of genetic testing.

Adult↗

PubMed2004

Decisions and outcomes of genetic testing for inherited breast cancer risk.

Since the discovery of breast cancer susceptibility genes and the availability of genetic testing, a substantial amount of research has been conducted to evaluate rates of genetic test acceptance and to understand the psychological and behavioral impact of BRCA1 and BRCA2 (BRCA1/2) genetic test results. This article explores findings related to genetic test acceptance for inherited breast cancer risk and the impact of genetic test results on psychological functioning, cancer prevention and control behaviors, and family communication about genetic testing. Overall, rates of genetic test acceptance were lower than anticipated based on interest in genetic testing reported in early research. While there is limited evidence that genetic testing generates adverse psychological effects, receiving positive BRCA1/2 test results may cause emotional reactions and concerns that are specific to such results. Although early reports suggested that receiving positive BRCA1/2 test results may have a limited impact on cancer screening or prevention behaviors, recent studies have shown that genetic testing for inherited breast cancer risk may increase screening behaviors among mutation carriers. However, utilization of some screening tests remains low among mutation carriers. Additional studies are needed to identify subgroups of participants in genetic testing who may be vulnerable to experiencing testing-specific concerns, and to evaluate the effects of interventions designed to promote behavioral change and address other concerns that may be generated by receiving positive BRCA1/2 test results.

BRCA1 Protein↗

PubMed1999

A study of the relationship between family history of breast cancer and knowledge of breast cancer genetic testing prerequisites.

Awareness of hereditary breast cancer genetic testing, of breast cancer risk factors, and of increased level of risk based on family history are necessary before women can seek out genetic services. The aim of this paper is to describe the relationships between family history of breast cancer and awareness of genetic testing, knowledge of breast cancer risk factors, and perceived lifetime risk of breast cancer. An anonymous survey was administered by mail to a random sample of 600 women, 200 from each of three breast cancer family history groups (none, intermediate, and strong), drawn from a population-based registry of 240,000 women enrolled in a mammography screening program in the Denver Metropolitan area in Colorado. Awareness of genetic testing for breast cancer risk assessment was found to be significantly associated with family history of breast cancer, increasing from 35% in the lowest family history risk group to 67% in the group with the strongest familial risk (p = 0.002). In all family history groups, nearly 70% of respondents viewed high-fat diet and smoking as being important in relation to breast cancer risk, but alcohol was seen as being only somewhat important or not important by almost half of all respondents. Having a mother or sister with breast cancer was reported as being extremely or very important by nearly all respondents, regardless of family history. As expected, perceived lifetime risk for developing breast cancer was associated with family history (p = 0.001), but the perception of the lifetime risk for breast cancer was much higher among all of the family history groups than their true risk. In conclusion, educational interventions are needed to heighten women's awareness of genetic testing, to clarify women's knowledge of breast cancer risk factors, especially alcohol, and to reassure many women that their actual breast cancer risk is lower than they might perceive.

Breast Neoplasms↗

PubMed2005

Screening and preventive behaviors one year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma.

BACKGROUND: Prevention benefits from predictive genetic testing for cancer will only be fully realized if appropriate screening is adopted after testing. The current study assessed screening and preventive behaviors during 12 months after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma (HNPCC) in an Australian clinical cohort. METHODS: Participants received predictive genetic testing for HNPCC at one of five Australian familial cancer clinics. Data on self-reported screening behaviors (colonoscopy, and endometrial sampling and transvaginal ultrasound for women) and prophylactic surgery (colectomy, and hysterectomy and bilateral oophorectomy for women) were collected using postal questionnaires before (baseline) and 12 months after receipt of genetic test results. Age, gender, perceived risk of cancer, and cancer-specific distress were assessed as predictors of colonoscopic screening. RESULTS: In the current study, 114 participants returned baseline questionnaires (32 carriers and 82 noncarriers of an HNPCC mutation). Ninety-eight participants also returned a 12-month follow-up questionnaire. Of those > or = 25 years, 73% reported having had a colonoscopy before genetic testing. At follow-up, 71% (15 of 25) of carriers and 12% (8 of 65) of noncarriers reported having a colonoscopy in the 12 months after receipt of test results. The reduction in colonoscopy among noncarriers was statistically significant (P < 0.001). High perceived risk was associated with colonoscopy at baseline. At follow-up, mutation status was the only variable significantly associated with colonoscopy. Among female mutation carriers, 47% reported having transvaginal ultrasonography and 53% endometrial sampling during follow-up. There was low uptake of prophylactic surgery for colorectal, endometrial, or ovarian carcinomas. CONCLUSIONS: The majority of individuals reported appropriate screening behaviors after predictive genetic testing for HNPCC. The small group of noncarriers who had screening after genetic testing might benefit from additional counseling.

Adult↗

PubMed2006

Perceived genetic knowledge, attitudes towards genetic testing, and the relationship between these among patients with a chronic disease.

OBJECTIVE: Genetics increasingly permeate everyday medicine. When patients want to make informed decisions about genetic testing, they require genetic knowledge. This study examined the genetic knowledge and attitudes of patients with chronic diseases, and the relationship between both. In addition, patients were asked about their preferred source of genetic information. METHODS: Questionnaires were mailed to participants of a nationwide representative sample of patients with chronic diseases in the Netherlands (n = 1916). RESULTS: The response rate was 82% (n = 1496). Perceived genetic knowledge was low, particularly among older and lower educated patients. Attitudes towards genetics were rather positive, especially among younger and higher educated patients. Some concerns were also documented, mainly about the consequences of genetic testing for employment and taking insurance. Patients who perceived to have little knowledge found it difficult to formulate an opinion about genetic testing. Higher levels of genetic knowledge were associated with a more favourable attitude towards genetics. Chronic patients prefer to receive genetic information from their GP. CONCLUSION: Chronic patients are ill prepared when they require genetic knowledge to make decisions regarding the treatment of their disease. This seems to result from a knowledge deficiency rather than from disagreement with the genetic developments. PRACTICE IMPLICATIONS: When chronic patients are in need of information about genetics or genetic testing, their general practitioner should provide this.

Adolescent↗

PubMed2003

Managed care in the genomics era: assessing the cost effectiveness of genetic tests.

BACKGROUND: Despite the fact that the Human Genome Project was completed only recently, genetic tests already have entered the marketplace, some with few or no long-term data to support their use. Managed care organizations will face reimbursement decisions for genetic tests on a growing scale, and they should have a framework in place to evaluate the clinical and economic outcomes of this new class of diagnostics. OBJECTIVE: To develop a set of criteria that could assist decision makers in evaluating the cost effectiveness of genetic testing. METHODS: A literature review was conducted of marketed genetic tests and criteria used to evaluate the clinical and economic benefits of genetic testing. Criteria were developed and pilot-tested on currently available genetic tests in colon cancer, periodontitis, acute lymphoblastic leukemia, and anticoagulation. RESULTS: A robust cost-effectiveness analysis requires data demonstrating (1) genotype-phenotype association; (2) genetic variant prevalence; (3) clinical outcome severity and incidence; (4) interventions for the variant group; and (5) sensitivity, specificity, and timing of the assay result. In addition, calculating the number of patients who need to be screened based on the above factors is useful for evaluating genetic tests. CONCLUSIONS: When evaluating a genetic test for reimbursement, these criteria can help to: (1) quantify the potential clinical benefit and economic savings; (2) assess the robustness of a cost-effectiveness analysis; and (3) clarify areas where data are deficient. These criteria should be used to inform the decision-making process in the context of ethical, legal, and social issues related to genetic testing.

Cost-Benefit Analysis↗

PubMed2005

Genetic testing: practical, ethical, and counseling considerations.

Genetic testing is becoming a much more common practice in medicine today. This presents a unique set of challenges for medical professionals in virtually all specialties. The practical aspects of determining which test to order, and in interpreting the result accurately in the context of the family history, can be difficult. Additionally, the ethical conundrums that frequently present themselves when genetic risk assessment and/or genetic testing is being considered can be daunting. These challenges present real concerns for medical professionals and patients alike. Included in this article is a review of some of the practical and ethical complexities associated with genetic testing. Pretest and posttest genetic counseling is also emphasized as an important and essential process in today's medical practice.

Adolescent↗

PubMed1997

Psychological opportunities and hazards in predictive genetic testing for cancer risk.

Although the availability of genetic tests seems like an unequivocally favorable turn of events, they are, in fact, not without controversy. At the center of the controversy is a question regarding the risks and benefits of genetic testing. Many geneticists, ethicists, psychologists, and persons at risk for cancer are concerned about the potentially adverse psychological effects of genetic testing on tested persons and their families. In addition, the screening and interventions that are useful in the general population remain to be shown effective in those with high genetic cancer risk. Consequently, there have been calls for caution in moving genetic testing out of research laboratories and into commercial laboratories until their impact and the effectiveness of cancer prevention strategies can be studied. This article examines the arguments and data for and against this caution, citing examples related to hereditary nonpolyposis colon cancer and drawing upon literature on testing for other genetic diseases.

Adaptation, Psychological↗

PubMed1999

Genetic testing, screening, and counseling issues in cardiovascular disease.

Genetic risk assessment for cardiovascular disease is less advanced and less widely performed to date than it is for cancer. Yet it is no less important. Alert clinicians should "think genetically" and follow up appropriately when confronted with a client having a family history of heart disease, early heart disease themselves, a known genetic disorder in which cardiac problems may be a component, or signs and symptoms indicative of a familial component to the heart problem observed. It is important for the clinician to know how, when, and to whom referral for further genetic evaluation and counseling should be made. Genetic testing and screening in children or adolescents for conditions such as hypertrophic cardiomyopathy (HCM), familial hypercholesterolemia (FH), and long QT (LQT) syndrome, when indicated, can help to save lives through preventive treatment and therapeutic interventions. Preparticipation sports physicals are one means of providing such screening and are important to conduct properly under guidelines recommended by the American Heart Association. Genetic testing for relatives of persons already identified to have heritable cardiac conditions is becoming more and more integral to mainstream primary health care but engender controversy when testing of children is involved. Clinicians must know how to interpret the results of such tests. Appropriate genetic counseling must accompany risk assessment, genetic testing, and screening for cardiovascular disease.

Adult↗

PubMedDate not supplied

On the use of population-based registries in the clinical validation of genetic tests for disease susceptibility.

PURPOSE: Many new genetic tests for susceptibility to adult-onset diseases are developed on the basis of selected and high-risk groups. Before such tests can be used in medical practice, however, epidemiologic studies must be conducted to evaluate their clinical sensitivity, specificity, and positive predictive value in the general population. For many common adult-onset diseases, this process may take decades of follow-up. METHOD: We illustrate how clinical validation of new predictive genetic tests can be done retrospectively using case-control studies that are derived from population-based registries of diseases. We use the examples of birth defects and cancer registries to illustrate a hypothetical process by which such tests can be clinically validated. RESULTS: We demonstrate how such epidemiologic studies can be successfully used to derive measures of a test's sensitivity, specificity, positive predictive value, negative predictive value, and of the population attributable fraction of disease due to the disease-susceptibility genes. Under certain assumptions, data derived from population-based case-control studies provide adequate estimates of lifetime risks for disease (penetrance) among people with specified genotypes. CONCLUSIONS: With adequate protections of human subjects, studies involving population-based registries of disease will increasingly become valuable in validating the numerous genetic tests that will emerge from advances in human genetic research and the Human Genome Project.

Adult↗