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PubMed2000

[Interest in breast cancer genetic testing among Icelandic women.].

OBJECTIVE: It is estimated that 6-10% of all breast cancers in Iceland can be attributed to inherited mutations in newly identified breast cancer susceptibility genes (BRCA1 and BRCA2). Before genetic testing becomes widely available in Iceland it is important to understand what motivates women s interest in undergoing testing as that will provide the data necessary for designing effective counseling interventions. Therefore, the aim of this population-based study was to examine interest in and predictors of interest in genetic testing among Icelandic women. MATERIAL AND METHODS: A randomly selected sample of 534 Icelandic women, who had not been previously diagnosed with breast cancer, completed questionnaires assessing, demographic/medical variables, interest in genetic testing, perceived risk of carrying mutations in BRCA1/2 genes, cancer-specific distress and perceived benefits and barriers of genetic testing. The mean age was 53.8 years and 197 of the women had at least one first degree-relative that had been diagnosed with breast cancer. RESULTS: Interest in testing was high with 74% of the women indicating that they were interested in testing. Family history of breast cancer was unrelated to interest in testing whereas perceived risk of being a mutation carrier was significantly and positively related to interest in testing. Interest in testing was also significantly higher among younger women and among women with higher levels of cancer-specific distress. The most commonly cited reasons for wanting to be tested were to increase use of mammography screening and to learn if one s children were at risk for developing cancer. The most commonly citied reasons against being tested were fear of being mutation carrier and worry that test results would not stay confidential. CONCLUSIONS: These results suggest that demand for genetic testing, once it becomes commercially available, among Icelandic women may be high even among women without family history of breast cancer. The results also suggest that genetic counseling needs to address women s breast cancer worries as that may increase the probability that the decision to undergo testing is based on knowledge rather than driven by breast cancer fear and distress.

English Abstract↗
PubMed2004

Genetic testing in New Zealand: the role of the general practitioner.

AIM: The aim of the study commissioned by the National Health Committee (NHC) was to explore the current practice and training needs of general practitioners (GPs) in relation to genetic testing in New Zealand, and to gauge GPs' perceptions of access to genetic services for their patients. METHOD: A postal survey was sent to a national, random sample of 600 GPs. Responses were received from 328 (56%) of the 586 eligible GPs. RESULTS: Most GPs felt they lacked experience and knowledge of genetic testing, had received little formal training, and many were unsure of how to contact genetic services locally. GPs recognised the importance of their role in genetic testing and requested further information. CONCLUSIONS: GPs in New Zealand have an increasingly important role to play in genetic testing. The nature of this role in the new genetics era needs to be carefully considered as will the best way to implement any future educational strategies.

Attitude of Health Personnel↗
PubMed1999

Relationships among breast cancer concern, risk perceptions, and interest in genetic testing for breast cancer susceptibility among African-American women with and without a family history of breast cancer.

There has been very little research exploring the relationships among perceptions of, and concern about, getting breast cancer and interest in genetic testing for breast cancer among African-American women with and without a family history of breast cancer. This study explored these issues among 130 and 136 African-American women with and without a family history of breast cancer, respectively. Women with a family history reported having greater perceived breast cancer risks and concerns than women without a family history of breast cancer. Knowledge of breast cancer risk factors was very poor and correlated weakly with perceptions of risk and concern. In attributional analyses, acknowledging one's family history status was the strongest predictor of perceived risk only among women with a family history. Women with a family history of breast cancer expressed greater interest in genetic testing for breast cancer susceptibility than women without a family history, although interest in testing was high overall. Increasing perceptions of breast cancer risks and concerns were related to a greater interest in genetic testing, and this relationship was not moderated by family history status. Attributions of risk and knowledge of breast cancer risk factors generally were not related to interest in testing. Overall, these results suggest that: (a) African-American women with a family history are more concerned about and do recognize their greater risk of breast cancer; (b) knowledge of risk factors and attributions of risk are not directly related to interest in genetic testing; and (c) concerns, rather than beliefs about one's risk, are more powerfully related to interest in genetic testing, independent of family history status.

Adult↗
PubMed2005

The use of genetic testing in the evaluation of hearing impairment in a child.

PURPOSE OF REVIEW: To review the role of genetic testing in the evaluation of hearing impairment in children. RECENT FINDINGS: The introduction of genetic testing has greatly enhanced the evaluation of deafness and hearing impairment in children. It can save time and money as well as providing patients, their families, and their physicians with important information; however, this testing is different from the medical testing that pediatricians typically order. SUMMARY: For patients and families to realize the benefits of genetic testing it must be done early in the evaluation process and must be accompanied by appropriate pretest and posttest counseling.

Child↗
PubMed2005

The medical examination in United States immigration applications: the potential use of genetic testing leads to heightened privacy concerns.

The medical examination has been an integral part of the immigration application process since the passing of the Immigration Act of 1891. Failing the medical examination can result in denial of the application. Over the years the medical examination has been expanded to include questioning about diseases that are scientifically shown to be rooted in an individual's genetic makeup. Recent advances in the fields of genomics and bioinformatics are making accurate and precise screening for these conditions a reality. Government policymakers will soon be faced with decisions regarding whether or not to sanction the use of these newly-developed genetic tests in the immigration application procedure. The terror threat currently facing the United States may ultimately bolster the argument in favor of genetic testing and/or DNA collection of applicants. However, the possibility of a government mandate requiring genetic testing raises a host of ethical issues; including the threat of eugenics and privacy concerns. Genetic testing has the ability to uncover a wealth of sensitive medical information about an individual and currently there are no medical information privacy protections afforded to immigration applicants. This article examines the potential for genetic testing in the immigration application process and the ethical issues surrounding this testing. In particular, this article explores the existing framework of privacy protections afforded to individuals living in the United States and how this and newly-erected standards like those released by the Health and Human Services (HHS) might apply to individuals seeking to immigrate to the United States.

Blood Specimen Collection↗
PubMedDate not supplied

Psychological risks of genetically testing children for a hereditary cancer syndrome.

Parents in families with a hereditary cancer syndrome are often familiar with periodical clinical testing of both themselves and their children. Genetic testing is an additional early diagnostic option that is becoming available for an increasing number of hereditary cancer syndromes. Participants in genetic counseling programs for cancer syndromes are often parents who apply for their children. If a child is identified as a carrier of a specific disease-causing gene mutation, sometimes its parents must decide on when it will be treated can treatment be postponed until expression of the disease or should the child receive presymptomatic surgery? We discuss some of the possible risks of genetically testing children: distress as a result of ambivalent feelings towards testing, preoccupation with disease-related signs, changes in family interactions, the burdening prospect of a future disease and medicalization of the carrier-child.

Child↗
PubMed1995

Genetic test for pyruvate kinase deficiency of Basenjis.

Pyruvate kinase (PK) deficiency is an autosomal, recessive, inherited disease of Basenjis that causes chronic, regenerative, hemolytic anemia. Diagnostic methods currently used to identify carrier animals rely on measurement of erythrocyte PK activity and frequently give equivocal results. A genetic test incorporating polymerase chain reaction amplification of genomic DNA and restriction fragment length polymorphism has been developed to determine the PK genotype of Basenjis. To determine whether results of this genetic test compared with results of standard tests for PK deficiency, erythrocyte PK activity, hematocrit, and reticulocyte counts were determined in, and the genetic test was performed on, 24 dogs. The genetic test accurately identified the 11 dogs whose PK genotype was known prior to this study, and results were consistent with results of measuring erythrocyte PK activity in the remaining 13 dogs. The genetic test may be of value in determining PK genotype of Basenjis.

Anemia, Hemolytic↗
PubMed2005

Risks and benefits of population-based genetic testing for Mendelian subsets of common diseases were examined using the example of colorectal cancer risk.

OBJECTIVE: Genetic testing for adult-onset, common diseases is becoming more commonplace in clinical medicine. We modeled the proportions of hypothetic populations that would potentially benefit or suffer harm from widespread predisposition testing. METHODS: Using the traditional two-by-two table from the discipline of epidemiology, we modeled three hypothetic populations using the example of genetic testing for hereditary colorectal cancer in three groups: the general population, a genetically increased-risk population, and a population at increased risk due to nongenetic factors. RESULTS: We demonstrate that the potential benefits are increased and risks are reduced when testing is limited to those at increased genetic risk when compared with testing in the general population. Where disease incidence is increased due to nongenetic factors, genetic testing has the potential to detract from the detection and reduction of other potentially important risk factors. CONCLUSION: While targeted testing can benefit those truly at increased risk, broadly applied genetic testing can do more harm than good.

Adult↗
PubMed1998

Genetic testing for the BRCA1 gene and the need for protection from discrimination: an evolving legislative and social issue.

Genetic testing for the BRCA1 gene is available commercially and clinically. The information gained from this test impacts not only on the individual tested, but on family members as well. The test can offer an individual and their family the opportunity to gain valuable information about their risks of developing certain forms of inherited breast cancer and other inherited cancers. In addition to its emotional and psychological impact, this information is associated with significant social and economic issues. This includes the potential for denial, loss, or increased rates for health insurance as well as denial and loss of employment based on genetic test information. The risk for such discrimination can lead to fear of seeking testing and can discourage participation in and potential benefit from prevention, screening, and treatment programs. Therefore, misuse of this information carries significant risk for the individual being tested and for their family members. It is imperative that the potential benefits of genetic testing and genetic information be afforded to all without this risk and fear. In addition to protecting all individuals from genetic discrimination, there is a need to protect the confidentiality of genetic information and an individual's right to privacy. This article discusses protection currently available through legislation at the federal and state level, focusing on the experience in North Carolina in developing and passing a genetic antidiscrimination bill. Although progress has been made, troublesome issues still remain.

Journal Article↗
PubMed2000

The use of genetic test information in insurance: the argument from indistinguishability reconsidered.

In the bioethical literature, discrimination in insurance on the basis of genetic risk factors detected by genetic testing has been defended and opposed on various ethical grounds. One important argument in favour of the practice is offered by those who believe that it is not possible to distinguish between genetic and non-genetic information, at least not for practical policy purposes such as insurance decision-making. According to the argument from indistinguishability, the use of genetic test information for insurance purposes should be permitted, because genetic test information is no different from non-genetic medical information in any relevant respect, therefore it would be inconsistent to prohibit the former whilst permitting the latter. This paper discusses and defends this argument and suggests a new, more tenable foundation.

Ethics, Medical↗
PubMed2004

Genetic testing and pharmacogenomics: issues for determining the impact to healthcare delivery and costs.

OBJECTIVES: To determine the potential impact of genetic testing and pharmacogenomics on healthcare delivery and costs. STUDY DESIGN: Literature review. METHODS: We examined 3 examples: (1) BRCA1/2 testing for breast cancer risk, (2) HER2/neu overexpression testing to guide drug treatment in women with breast cancer, and (3) CYP2C9 testing before the use of the anticoagulant warfarin. We discussed each genetic testing example from the perspective of the patient, provider, insurer, industry, government, and society. RESULTS: The expanded use of genetic information offers many potential clinical benefits, but also many economic challenges. One of those challenges will be managing the impact of genetic testing on healthcare delivery and costs. CONCLUSIONS: Systematic, evidence-based technology assessments and economic evaluations will have to be used to guide the incorporation of genomics into clinical practice. More research also will be needed to assess patient preferences and willingness to pay for genomic technologies; how providers can assess and use genomic technologies; and how the industry, insurers, and government can best balance the relevant costs and benefits.

Breast Neoplasms↗
PubMed2001

Predictive genetic testing in children and adults: a study of emotional impact.

AIM: To determine whether, following predictive genetic testing for familial adenomatous polyposis (FAP), children or adults receiving positive results experience clinically significant levels of anxiety or depression, and whether children receiving positive results experience higher levels of anxiety or depression than adults receiving positive results. DESIGN: Two studies, one cross sectional and one prospective. SAMPLE: 208 unaffected subjects (148 adults and 60 children) at risk for FAP who have undergone genetic testing since 1990. MAIN MEASURES DEPENDENT VARIABLES: anxiety, depression; independent variables: test results, demographic measures, psychological resources (optimism, self-esteem). RESULTS: Study 1. In children receiving positive results, mean scores for anxiety and depression were within the normal range. There was a trend for children receiving positive results to be more anxious and depressed than those receiving negative results. In adults, mean scores for anxiety were within the normal range for those receiving negative results, but were in the clinical range for those receiving positive results, with 43% (95% CI 23-65) of the latter having scores in this range. Regardless of test result, adults were more likely to be clinically anxious if they were low in optimism or self-esteem. Children receiving positive or negative results did not experience greater anxiety or depression than adults. Study 2. For children receiving a positive test result, mean scores for anxiety, depression, and self-esteem were unchanged over the year following the result, while mean anxiety scores decreased and self-esteem increased after receipt of a negative test result over the same period of time. CONCLUSION: Children, as a group, did not show clinically significant distress over the first year following predictive genetic testing. Adults were more likely to be clinically anxious if they received a positive result or were low in optimism or self-esteem, with interacting effects. The association between anxiety, self-esteem, and optimism suggests that counselling should be targeted, not only at those with positive test results, but also at those low in psychological resources.

Adenomatous Polyposis Coli↗
PubMed2000

Psychological impact of genetic testing for Huntington's disease: an update of the literature.

Genetic testing has been available for Huntington's disease for longer than any other adult onset genetic disorder. The discovery of the genetic mutation causing Huntington's disease made possible the use of predictive testing to identify currently unaffected carriers. Concerns have been raised that predictive testing may lead to an increase in deaths by suicide among identified carriers, and these concerns set in motion research to assess the psychological impact of predictive testing for Huntington's disease. This review article provides an overview of the literature and draws implications for clinical practice. About 10%-20% of people at risk request testing when approached by registries or testing centres. Most of the evidence suggests that non-carriers and carriers differ significantly in terms of short term, but not long term, general psychological distress. Adjustment to results was found to depend more on psychological adjustment before testing than the testing result itself. Although risk factors for psychological sequelae have been identified, few adverse events have been described and no obvious contraindications for testing people at risk have been identified. The psychological impact of testing may depend on whether testing was based on linkage analysis or mutation detection. Cohorts enrolled in mutation detection programmes have higher levels of depression before and after testing, compared with people who sought genetic testing when linkage analysis was available. There is evidence that people who choose to be tested are psychologically selected for a favourable response to testing. The impact of testing on people in settings where less intensive counselling protocols and eligibility criteria are used is unknown, and genetic testing is therefore best offered as part of comprehensive specialist counselling.

Humans↗
PubMed2001

Canine molecular genetic testing.

Inherited diseases are common among dogs. Recent advances in molecular genetics provide the groundwork for the development of genetic tests for the diagnosis and prevention of inherited diseases. As a result of this progress, genetics should become an integral part of veterinary medicine. DNA tests are safe, easy to perform, and reliable if interpreted correctly. Genetic tests only need to be performed once in a dog's lifetime, because the results of DNA testing never change. Veterinarians should be prepared to understand genetic testing and counseling because they are becoming increasingly important to veterinary medicine.

Animals↗
PubMed2003

Where there's a web, there's a way: commercial genetic testing and the Internet.

The Internet has become a "global marketplace", enabling consumers to purchase health care products and services, including genetic testing, through a variety of national and international sources. A web search for commercial (for-profit) genetic testing companies found 12 with a web presence that were offering adult genetic susceptibility testing, of which 3 offered direct-to-consumer access. In this paper, Canada--with its educated population and universal health care system--will serve as a case study for illustrating the social, ethical and policy issues (e.g., information privacy, just access to health care, product safety, and access to unbiased health information) arising with Internet-based access to commercial genetic testing. Health professionals, policy makers and consumers in all developed nations will be faced with complex technical, social and ethical issues, but without further discussion it will not be possible to determine how best to manage and maximise the benefits of this increased accessibility and choice, while minimising the associated personal and social costs.

Genetic Counseling↗
PubMed2002

Basic concepts for genetic testing in common hereditary colorectal cancer syndromes.

Approximately 5% of colorectal cancers are associated with one of the autosomal dominant hereditary cancer syndromes. The two most common familial colon cancer syndromes are familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). The causative mutation can be identified in many families with these syndromes by genetic testing of an affected individual. If an affected individual tests positive for a disease-causing mutation, genetic testing of unaffected, at-risk family members can be performed to determine whether they have inherited the cancer-susceptibility mutation, and a personalized cancer surveillance strategy can be devised. Genetic testing significantly enhances cancer risk assessment in these families. However, the complicated nature of result interpretation and the emotional impact of the result necessitate that testing be carried out in conjunction with patient education and informed consent by a physician who has a keen appreciation for the inherent challenges. This article describes the genetic testing strategy in HNPCC and FAP.

Adenomatous Polyposis Coli↗