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PubMed2004

The dawn of genetic testing for glaucoma.

PURPOSE OF REVIEW: To review recent trends in genetic testing in medicine as they apply to newly evolving tests for patients with glaucoma. RECENT FINDINGS: The utilization of powerful molecular methods for genetic testing is now entering its early stages in the practice of medicine in general, and with testing, many issues, both medical and societal, have been raised. Only recently has testing for a disease risk factor in primary open angle glaucoma (POAG) become available. It is known that some mutations in the gene myocilin are associated with POAG. MYOC.mt1 is a relatively common promoter region variant in the myocilin gene for which there is a commercially available test. Some investigators have found that MYOC.mt1 may increase disease severity in patients with POAG, whereas others have not found this association. There is a need for further testing for the role of the MYOC.mt1 variant in the pathogenesis of POAG. SUMMARY: Genetic testing for glaucoma holds great promise. Currently available tests for disease-related tests in patients with glaucoma or at risk for this disease remain controversial.

Cell Cycle Proteins↗

PubMed2003

Genetic testing for hereditary nonpolyposis colorectal cancer.

Colorectal cancer remains a major cause of morbidity and mortality in United States. While most newly diagnosed cases are sporadic, a small percent of colorectal cancers are due to hereditary cancer syndromes, of which hereditary nonpolyposis colorectal cancer (HNPCC) is the most common. HNPCC is caused by mutations resulting in defective DNA mismatch repair gene function. Advances in molecular technology have enabled us to use genetic testing for HNPCC genes to identify high-risk families. Over the past several years, genetic testing for HNPCC has evolved from a research endeavor to a clinical test that often is an integral part of providing care for high-risk families. This article reviews the available genetic tests, genetic testing recommendations, interpretation of test results, and the clinical impact of genetic testing for HNPCC.

Journal Article↗

PubMed2005

The role of the family in genetic testing: theoretical perspectives, current knowledge, and future directions.

This article addresses conceptual challenges and theoretical approaches for examining the role of the family in responding and adapting to genetic testing for inherited conditions. Using a family systems perspective, family-based constructs that are relevant to genetic testing may be organized into three domains: family communication, organization and structure of family relationships, and health-related cognitions and beliefs shared within families. Empirical findings are presented from key content areas in family-based genetics research, including family communication, how genetic testing affects family relationships, psychological responses to genetic testing in the family context, and family-based influences on health decisions. Future research should explore decision making about genetic testing or behavior change specifically within the context of the family system and should identify family-based determinants of genetic testing outcomes.

Communication↗

PubMed1991

Protocol for genetic testing in Huntington disease: three years of experience in Minnesota.

Molecular genetic testing for Huntington disease (HD) by linkage analysis of DNA markers close to the HD gene has been possible since the mid-1980s. Because of ethical and practical concerns about this kind of testing, most groups performing the test in the past have operated under lengthy research protocols designed to assess the psychological morbidity of the presymptomatic diagnosis of a fatal disease. Our approach to HD testing is service-oriented, and our testing process has been designed to be flexible, to meet the varying needs of our patients. Between 1988 and 1990, 87 inquiries about the test have been received; 22 inquiries had family structures which were unsuitable for linkage analysis. Eleven of the 37 individuals who entered the testing program have not completed it. Of 19 patients who have received DNA results, seven received an increased risk of carrying the HD gene, and ten, a decreased risk. For two additional individuals, nonpaternity resulted in a negligible risk for HD. Several of those consulted, or their spouses, have had continuing outpatient counseling since completing the test; none have required hospitalization. Our short-term results indicate that molecular genetic testing for HD can be performed safely in a clinical setting using our protocol. As molecular genetic testing for HD and other diseases moves out of research centers and into clinics, clinicians must devise practical strategies for providing the medical, genetic, and psychological services needed for the growing number of individuals who will seek such testing.

Genetic Linkage↗

PubMed2002

Genetic test evaluation: information needs of clinicians, policy makers, and the public.

Growing knowledge about gene-disease associations will lead to new opportunities for genetic testing. Many experts predict that genetic testing will become increasingly important as a guide to prevention, clinical management, and drug treatment based on genetic susceptibilities. As part of a Human Genetic Epidemiology workshop convened by the Centers for Disease Control and Prevention, a group of experts evaluated the evidence needed when considering the appropriate use of new genetic tests. Because new tests are likely to vary in their predictive value, their potential to direct prevention or treatment efforts, and their personal and social consequences, the task of determining appropriate use will require careful consideration of a variety of factors, including the analytic validity, clinical validity, clinical utility, and ethical, legal, and social implications of the test. Standardized formats are needed to summarize what is known and not known about new genetic tests with respect to each of these features. Following criteria for the objective assessment of test properties, reports should be structured to enable policy makers, clinicians, and the public to identify the available evidence, so that uncertainties can be taken into account when considering test use and planning future research.

Decision Making↗

PubMed2000

Genetic testing of the general population: ethical and informatic concerns.

Whether we like it or not, genetic testing will almost certainly become routine medical practice within the next 25 years. Integrated circuit chips already exist that can perform 400 genetic tests simultaneously, thus greatly reducing the costs. At least one company is already working on a prototype for a handheld genetic tester that would allow primary care physicians to perform hundreds or thousands of genetic tests on a simple blood smear in just a few minutes. "Genetic report cards" for children are not very far off at all. The use of such widespread testing poses a variety of ethical dilemmas. One problem that has not been appreciated sufficiently, however, is the question of how to interpret the test results. Because of the ways the genes implicated in diseases are discovered and marketed, quantitative analysis of the tests can be extremely misleading. The difficulty is that we simply do not have sufficient information about variance in genetic and other factors in the general population to make accurate projections of a patient's risk, given the presence of a gene. This uncertainty is obscured, however, when we provide the patient with a numerical analysis of risk because it is well established that people tend to overestimate the information content of numerical projections. This situation is made far worse by the fact that we do not have enough adequately trained genetic counselors to handle the load that will soon be placed on them (and studies have shown that physicians are generally very poorly prepared to act as accurate sources of information on complex genetic issues). For these reasons, I argue that access to genetic testing should be treated the same way as access to new medical procedures and medications--namely, withheld from the general public until proven safe and effective in large-scale trials. This is certain to be an unpopular policy, but it seems the only way to prevent a great deal of abuse of genetic tests.

Ethics, Medical↗

PubMed2025

Genetics first approach: Expanding the utility of genetic testing by nongeneticist physicians.

PURPOSE: The increasing demand for genetic testing and a global shortage of geneticists has significantly strained health care systems worldwide. This highlighted the need for new strategies aiming to increase testing accessibility, reduce wait times, and enhance patient care quality. METHODS: We implemented a 4-step program, "Genetics First," to empower nongeneticist physicians (NGPs) to play an active role in the process of genetic consultation and testing. The steps included (1) establishing criteria to identify suitable clinical domains, (2) selecting clinical indications within the domain through expert panel review, (3) designing tailored education and workflows for NGPs across indications, and (4) monitoring test outcomes and providing further support for complex cases. Test outcomes were compared between NGPs and clinical geneticists. RESULTS: Endocrinology was selected as the first domain, with 114 endocrinologists who completed the program. During the study, 260 gene panels were performed for monogenic diabetes, with NGPs initiating 68% of tests, leading to a 107% increase in referrals. The diagnostic yield was 30%, with no significant difference between NGP- and clinical geneticist-initiated tests. CONCLUSION: This study demonstrates the feasibility and impact of involving NGPs in genetic testing, offering a paradigm shift that could expand access to genetic testing and improve patients' care and clinical outcomes.

Humans↗

PubMed2003

Life insurance and breast cancer risk assessment: adverse selection, genetic testing decisions, and discrimination.

Life insurance industry access to genetic information is controversial. Consumer groups argue that access will increase discrimination in life insurance premiums and discourage individuals from undergoing genetic testing that may provide health benefits. Conversely, life insurers argue that without access to risk information available to individuals, they face substantial financial risk from adverse selection. Given this controversy, we conducted a retrospective cohort study to evaluate the impact of breast cancer risk information on life insurance purchasing, the impact of concerns about life insurance discrimination on use of BRCA1/2 testing, and the incidence of life insurance discrimination following participation in breast cancer risk assessment and BRCA1/2 testing. Study participants were 636 women who participated in genetic counseling and/or genetic testing at a University based clinic offering breast cancer risk assessment, genetic counseling, and BRCA1/2 testing between January 1995 and May 2000. Twenty-seven women (4%) had increased and six (1%) had decreased their life insurance since participation in breast cancer risk assessment. The decision to increase life insurance coverage was associated with predicted breast cancer risk (adjusted OR 1.03 for each 1% absolute increase in risk, 95% CI 1.01-1.10) and being found to carry a mutation in BRCA1/2 (OR 5.10, 95% CI 1.90-13.66). Concern about life insurance discrimination was inversely associated with the decision to undergo BRCA1/2 testing (RR 0.67, 95% CI 0.52-0.85). No respondent reported having life insurance denied or canceled. In this cohort of women, these results indicate that information about increased breast cancer risk is associated with increase in life insurance purchasing, raising the possibility of adverse selection. Although fear of insurance discrimination is associated with the decision not to undergo BRCA1/2 testing, there was no evidence of actual insurance discrimination from BRCA1/2 testing.

Breast Neoplasms↗

PubMed2004

Assessment of genetic testing and related counseling services: current research and future directions.

With the recent completion of the sequencing of the Human Genome, genetic testing will increasingly become available for a greater number of medical conditions, many of which are those that manifest in adulthood (e.g., various cancers, cardiovascular disease, diabetes) or for which little or no treatments are available (e.g., Alzheimer disease). Genetic services, defined here as those relating to genetic testing and counseling, will be with helping more individuals deal with medical information that affects their health directly, as opposed to affecting primarily the health of their offspring. This paper reviews the existing research in the genetic testing and counseling literature and presents an evaluation framework outlining the intended outcomes of genetic services. The purpose of this framework is to provide an overview of the potential outcomes of these services and highlight constructs for future research in this area. In addition, other issues that will affect the assessment of genetic services are raised, using examples from the existing literature. Ultimately, the goal of this paper is to highlight and suggest directions researchers can take to produce the information needed to guide genetic testing and counseling practice. Moreover, as genetic knowledge is increasingly applied towards the prevention and treatment of various common, chronic disease conditions, genetic information will have implications for providers outside of the traditional medical genetics realm, such as primary care providers and public health practitioners. A better understanding of the outcomes of genetic testing and counseling will provide a basis from which to ensure an appropriate application of genetic information by all those who eventually provide care and "genetic" services.

Decision Making↗

PubMed2004

Racial and ethnic variations in knowledge and attitudes about genetic testing.

This study was designed to shed light on whether differences in utilization of genetic testing by African-Americans, Latinos, and non-Hispanic Whites are due primarily to different preferences, or whether they instead reflect other values and beliefs or differential access. It explores the values, attitudes, and beliefs of African-Americans, Latinos, and non-Hispanic Whites with respect to genetic testing by means of a telephone survey of representative samples of these three groups. The study finds clear evidence that Latinos and African-Americans are, if anything, more likely to express preferences for both prenatal and adult genetic testing than White respondents. At the same time, they hold other beliefs and attitudes that may conflict with, and override, these preferences in specific situations. African-Americans and Latinos are also less knowledgeable about genetic testing than non-Hispanic Whites, and they are less likely to have the financial resources or insurance coverage that would facilitate access to testing.

Black or African American↗

PubMed2005

Will genetic testing for complex diseases increase motivation to quit smoking? Anticipated reactions in a survey of smokers.

The aim of this study was to improve understanding of smokers' potential reactions to genetic testing for smoking-related diseases. One thousand twenty-four respondents completed a postal survey; 186 were smokers. Questions addressed anticipated psychological and behavioral reactions to genetic test results using hypothetical scenarios. Of smokers, 65% anticipated being motivated to quit smoking upon receiving a positive genetic test result; 39% anticipated being demotivated by a negative result. More smokers anticipated being depressed in response to receiving a positive result for cancer than for heart disease (40% vs. 24%). Anticipated motivation was associated with higher desire to quit and lower nicotine addiction, anticipated depression with poorer understanding of genetic testing, and anticipated demotivation with lower education. Smokers who have a high desire to quit may use genetic testing as a motivational tool. Understanding of genetics may be important in determining how individuals respond to genetic tests for complex diseases.

Adolescent↗

PubMed2005

Parental attitudes and beliefs regarding the genetic testing of children.

OBJECTIVES: To explore parental attitudes and beliefs about genetic testing of children for conditions that present throughout the life cycle. METHODS: Twelve semi-structured focus groups with black and white parents were conducted. RESULTS: Across racial groups, most respondents want access to genetic testing and believe that parents should be the final decision-makers. While most respondents believe it is important to share genetic information with relatives, white respondents want physicians to respect confidentiality absolutely, whereas some black respondents accept physician disclosures in specific situations. CONCLUSIONS: Professional policy statements are restrictive about access to predictive genetic testing of children. This conflicts with parental attitudes about who should have decisional authority. While there is consensus among respondents that genetic information should be shared with relatives, respondents disagree as to who should be responsible for disclosure, and when professionals should breach patient confidentiality.

Adult↗

PubMed1997

Genetic testing for susceptibility to breast cancer: findings from women's focus groups.

Before designing an intervention to assist women in making informed decisions about BRCA1 testing, we conducted focus groups with women who had breast cancer and unaffected women whose relatives had it to better understand women's knowledge, concerns about testing, and potential influences and support needs in making a decision about genetic testing for susceptibility to breast cancer. Findings show a general lack of knowledge about genetic testing for breast cancer and what it means to have a positive test result, a strong concern for family members, particularly daughters, to use information from testing to help them make better decisions about their health and lifestyle choices, a strong sense of altruism, particularly among affected women, about being tested to help other women, not just family, and various support needs surrounding the testing experience, including an active role for physicians in the decision process. The major advantages to testing seem to be for information that could help reduce uncertainty and assist with making future decisions about medical treatment and plans for surveillance and some lifestyle changes. The major disadvantages to testing were concerns about confidentiality and loss of insurance, the lack of proven options for women after testing, and stress from knowing one had the BRCA1 mutation. These focus group discussions show women's concerns and ambivalence about genetic testing. We need to provide women with balanced information about the positive and negative aspects of such testing, determine how best to involve physicians in women's decisions about testing, consider the effects of testing on family relationships, and provide more public education about what genetic testing is and what it means.

Adult↗

PubMed2001

Awareness of genetic testing for breast cancer risk among women with a family history of breast cancer: effect of women's information sources on their awareness.

The purpose of this study was to relate women's awareness of breast cancer risk genetic testing to the sources of information used by women for obtaining information about breast health. A sample of 354 women with a family history of breast or ovarian cancer was interviewed. Study variables included women's information sources for breast health, personal risk perceptions, family history of breast cancer, personal experience (i.e., having had a biopsy), awareness of genetic testing, and demographic variables. Regression analyses were conducted to assess the relationships among the variables. Only approximately one-third of the study participants were moderately aware of genetic testing for breast cancer risk. The Internet Web was the only information source significantly related to awareness of genetic testing. Having had a biopsy, being more highly educated, and being married also were significant predictors of awareness of genetic testing. Study participants were not uniformly aware of genetic testing. If the diffusion of Web technology continues, the Web may be a promising source for increasing awareness on genetic testing for breast cancer risk.

Adolescent↗

PubMed2002

Cost-minimization analysis of genetic testing versus clinical screening of at-risk relatives for familial adenomatous polyposis.

OBJECTIVE: Familial adenomatous polyposis (FAP) is a well-known hereditary colorectal cancer-predisposing syndrome. Genetic testing for colorectal cancer risk is now part of standard medical practice, but very little is known about the economic impact of this technology. The aim of this study was to assess, from a healthcare system perspective, the direct costs of two strategies for screening at-risk relatives of FAP patients: clinical screening versus genetic testing for FAP. METHODS: A systematic review of the literature was carried out. Additional information was gathered from experts in research and clinical laboratories and in hospital departments. A decision tree was constructed to compare per-person and per-family costs of the two strategies for screening at-risk relatives of FAP patients. Sensitivity analysis was performed to assess the stability of the model across the full range of plausible values for all key parameters. RESULTS: According to the decision analysis, with FAP screening starting at puberty, the average screening costs are $3,181 and $2,259 (Canadian dollars), respectively, for the clinical screening and the genetic testing strategies. Genetic screening is cost saving up to a first screening age of 36. Sensitivity analysis shows that the results of the baseline analysis hold across a variety of assumptions concerning the parameter values. CONCLUSIONS: The genetic testing strategy is cost saving relative to the clinical screening alternative. Apart from its lower costs, it is associated with many other benefits. Accordingly, under predefined conditions, predictive genetic testing seems to be the optimal screening strategy for FAP.

Adenomatous Polyposis Coli↗

PubMed1993

Interest in genetic testing for colon cancer susceptibility: cognitive and emotional correlates.

BACKGROUND: Recent advances in human genetics have led to the identification of markers for cancer susceptibility. Nevertheless, little is known about the public's interest in clinical genetic testing for cancer-related markers. METHODS: A random-digit-dial telephone survey of 401 adult residents of Utah was conducted during the summer of 1990. Respondents were randomized to one of three question frames and asked about their interest in a potential genetic test for colon cancer susceptibility. They were also asked to rate their risk for colon cancer, how often they worried about contracting any type of cancer, and how often they felt worried and nervous during the past year (trait anxiety). RESULTS: Eighty-three percent of respondents expressed interest in genetic testing. Level of interest was most strongly correlated with perceived risk for colon cancer (r = 0.21, P < 0.001). Responses were not affected by the use of different question frames. CONCLUSIONS: These results show a high level of public interest in genetic testing for colon cancer susceptibility. The data also suggest that anxiety does not undermine interest, but future research must determine whether this relationship is limited to hypothetical judgments such as those studied here.

Adult↗

PubMed2005

Hereditary melanoma and predictive genetic testing: why not?

BACKGROUND: Since p16-Leiden presymptomatic testing for hereditary melanoma has become available in the Netherlands, the benefits and risks of offering such testing are evaluated. The current paper investigated why the non-participants were reluctant to participate in genetic testing. METHODS: Sixty six eligible individuals, who were knowledgeable about the test but had not participated in genetic testing by January 2003, completed a self-report questionnaire assessing motivation, anxiety, family dynamics, risk knowledge and causal attributions. RESULTS: Non-participants reported anxiety levels below clinical significance. A principal components analysis on reasons for non-participation distinguished two underlying motives: emotional and rational motivation. Rational motivation for non-participation was associated with more accurate risk knowledge, the inclination to preselect mutation carriers within the family and lower scores on anxiety. Emotional motivation for non-participation was associated with disease misperceptions, hesitation to communicate unfavourable test results within the family and higher scores on anxiety. CONCLUSION: Rational and emotional motivation for non-participation in the genetic test for hereditary melanoma was found. Emotionally motivated individuals may be reluctant to disseminate genetic risk information. Rationally motivated individuals were better informed than emotionally motivated individuals. It is suggested that a leaflet is added to the invitation letter to enhance informed decision-making about genetic testing.

Adult↗

PubMed1995

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

The recent cloning of a breast-ovarian cancer susceptibility gene (BRCA1), and determination of the locus of a related gene (BRCA2), offers potential for clinical genetic testing for breast cancer susceptibility. This study examined interest in and expectations about an impending genetic test among first-degree relatives (FDRs) of breast cancer patients. One hundred five females completed two structured telephone interviews to assess demographics, breast cancer risk factors, psychological factors, and attitudes about genetic testing for breast cancer susceptibility. Overall, 91% of FDRs said that they would want to be tested, 4% said they would not, and 5% were uncertain. The most commonly cited reasons for wanting genetic testing were to learn about one's children's risk, to increase use of cancer screening tests, and to take better care of oneself. Women with less formal education were motivated by childbearing decisions and future planning to a greater degree than were women with education beyond high school. Most women anticipated a negative psychological impact of positive test results, involving increased anxiety (83%), depression (80%), and impaired quality of life (46%). In addition, 72% of women indicated that they would still worry if they tested negative. In multivariate regression analysis, level of baseline depression was the strongest predictor of an anticipated negative impact of genetic testing (Beta = .15; P, .0001). These results suggest that the demand for genetic testing for breast cancer susceptibility may be great, even among women who are not likely to have predisposing mutations.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗