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PubMedDate not supplied

The link between providers and patients: how laboratories can ensure quality results with genetic testing.

Advances in genetic testing technology can provide important opportunities for health improvement. Simultaneously, they entail complexity in laboratory analysis and interpretation. The nature of genetic testing may engender implications distinct from other diagnostic tests. In this article, we summarize these implications, including the role of informed consent; quality assurance in diagnostic testing services; interpretation of the test results; patient support; appropriate disclosure; and regulations relevant for laboratories involved with genetic tests. Research and clinical laboratories need to stay abreast of these advancing technologies and their implications for health-care patients and providers. Collaboration between testing personnel, geneticists, and other health-care providers is necessary to ensure that patients receive the full benefits from testing, including a clear understanding of their genetic test information.

Adult↗
PubMed2002

Genetic testing when there is a mix of compulsory and voluntary health insurance.

When the insurer has access to information about test status, genetic insurance can handle the negative effects of genetic testing on insurance coverage and income distribution. Hence, efficient testing is promoted. When information about prevention and test status is private, two types of social inefficiencies may occur; genetic testing may not be done when it is socially efficient and genetic testing may be done although it is socially inefficient. The first type of inefficiency is shown to be likely for consumers with compulsory insurance only, while the second type of inefficiency is more likely for those who have supplemented the compulsory insurance with substantial voluntary insurance. This second type of inefficiency is more important the less effective prevention is. It is therefore a puzzle that many countries have imposed strict regulation on the genetic information insurers have access to. A reason may be that genetic insurance is not yet a political issue, and the advantage of shared genetic information is therefore not transparent.

Access to Information↗
PubMed2005

Ethical issues and policy analysis for genetic testing: Huntington's disease as a paradigm for diseases with a late onset.

This paper discusses the main ethical issues that arise when testing for genetic diseases with a late adult onset, such as Huntington's disease, take place. It is imperative to study genetic testing for HD and similar diseases because of the potential to influence future medical advances and the growing number of individuals who are considered pre-symptomatic. The main ethical issues are consent and privacy, prenatal testing and its implications, in addition to insurance discrimination. These issues are viewed from the perspective of genetic counselors, patients, the families of patients, and insurance companies. Policies put forth by the United States National Society of Genetic Counselors ("NSGC"), the Task Force on Genetic Testing, and the President's Council for Bioethics are also analyzed. Finally, new recommendations are proposed in order to ameliorate the ethical dilemmas encountered in genetic testing. These recommendations are largely based on existing policies and therefore involve amending current policies rather than revamping them.

Abortion, Eugenic↗
PubMed2001

Direct comparison of detection systems used for the development of single-cell genetic tests in preimplantation genetic diagnosis.

PURPOSE: Single-cell polymerase chain reaction (PCR) requires efficient amplification and accurate detection. We compare the accuracy of heteroduplex, fluorescent-fragment, and fluorescent single-strand conformation polymorphism (F-SSCP) analysis as detection systems for analysis of a PCR assay developed for preimplantation genetic diagnosis. METHODS: A single-cell, fluorescent multiplex PCR assay was developed for the cystic fibrosis delta F508 mutation and the short tandem repeat, D21S11. Detection systems were compared by analyzing blinded PCR products. RESULTS: Amplification rates for cystic fibrosis were 89% by heteroduplex and 91% by fragment analysis, while it was 72% for D21S11 by fragment analysis. No difference in allele dropout was detected for cystic fibrosis by any method (2%). Overall accuracy was high, > 97%, although SSCP was the least accurate. CONCLUSIONS: Heteroduplex and fragment analysis proved equal in the diagnosis of a single amplified locus. We determined that fragment analysis allows maximal accuracy of detection and permits analysis of a second loci, controlling for DNA contamination and allelic dropout.

Cystic Fibrosis↗
PubMed2003

[Human germline genetic tests].

A guideline for genetic testing by 10 scientific societies was published recently. This can be summarized as follows. 1) Generalized medical care for genetic medicine is necessary when genetic testing is considered. 2) Analytical validity, clinical validity and clinical usefulness must be proven when genetic testing is applied to clinical medicine. 3) Informed consent must be given by the client before genetic testing is performed. 4) Information on an individual's genetic test must be protected tightly and should not be disclosed to others without permission from the client. 5) Genetic counseling must be performed before genetic testing is performed. 6) The purposes of genetic test performed to prepositus ((i) for definite diagnosis of the patient and (ii) for obtaining information by predictive tests for family members) should be clearly distinguished. 7) Genetic tests for detection of carrier status of specific genetic conditions should be carefully performed, because they do not affect the health condition themselves, but can be a cause of discrimination. 8) Predictive genetic tests must be performed very carefully, especially when no procedures of treatment/prevention are available. 9) In general, genetic testing of children should be considered when such tests provide clinical benefits to the children themselves.

Forecasting↗
PubMed2003

[Genetic testing].

The first genetic tests started to be developed about twenty years ago. Their initial applications were limited to genetic counselling and prenatal diagnosis of a few hereditary diseases. Technological progress and the identification of genes responsible for many hereditary diseases have led to their development and diffusion. They have become a nearly irreplaceable tool for the diagnosis of hereditary diseases. In the future, their indications should increase when genes implicated in multifactorial diseases are progressively identified. The impact will probably be particularly important in cardiology because most cardiovascular diseases are multifactorial. The first predisposing factors (factor V. prothrombin...) for a predisposition to thrombosis are now daily genetic investigations. In parallel, the progress in pharmacogenetics should enable everyone to have appropriate qualitative and quantitative treatment according to their genetic makeups, which should improve both efficacy and safety. In order to face up to the exponential increase in demand for the genetic tests which will result from these advances, the laboratories should have new high speed, powerful and economic equipment. DNA microchips, which are currently under development could, at least initially, provide a solution to this problem. It is now certain that genetic testing will become routine and, in time, it will be used massively in both hospital and community medicine.

Adult↗
PubMed2001

[Genetic testing and bioethics].

Genetic counseling is fundamental before and after the genetic testing, especially presymptomatic genetic testing. However, there is no official system for genetic counseling in Japan. We propose the multidisciplinary approach to genetic counseling, which might become available in the Japanese medical system. Shinshu University Hospital established a division of clinical and molecular genetics as one of its central service departments in 1996. It was officially approved by Ministry of Education in 2000. Our division is composed of several MDs from the departments of neurology, endocrinology, pediatrics, oncology, laboratory medicine and medical genetics, a clinical psychologist, and a genetic nurse. We have a staff meeting once a week to discuss each case for providing the suitable counseling, and we discuss the ethical, legal and social issues (ELSI). We hope our approach will become familiar to other hospitals, and genetic services in Japan will consequently be improved.

Bioethics↗
PubMed2005

Standards and controls for genetic testing.

The majority of genetic tests done today are completely home brew assays. A few of the more common tests are based on ASR level reagents. To date the only genetic assays that are available as FDA-approved in vitro diagnostic (IVD) kits are for analysis of the Factor V (Leiden) and Factor II (promoter G to A) mutations associated with thrombophilia risk for assessment of cytochrome P450 2D6 and 2C19 polymorphisms and for analysis of mutations in the CFTR gene. In this regard, the lab community has taken the lead in development of standards and controls for genetic tests. As genetic testing enters the mainstream, we expect to see more approvals of IVD kits, and the IVD manufacturing community will take a larger role in providing the control materials for these assays. Commercially run proficiency testing programs are only available for the most common genetic tests. All other tests must use approaches such as sample swapping between labs to fulfill this requirement.

Control Groups↗
PubMed1998

Taking a count: the evaluation of genetic testing.

While some forms of genetic testing have been available for decades, the progress of the Human Genome Project will expand the possibilities for testing. Evaluation of genetic testing is warranted because health care services have an opportunity cost and thus the benefits of testing must be assessed against the costs. However, genetic testing raises new methodological difficulties in taking into account the full range of costs, benefits and risks. The conventional approach to evaluating new technologies is to assess their benefits in terms of health outcomes only, and to consider the effects on the individuals being tested. Like any test, the product of genetic testing is information. Any subsequent health outcome gain depends on the effectiveness of any intervention which results from the information. Assessing the benefits in terms of health outcomes only excludes consideration of any value, both positive and negative, attached to information. The special feature of genetic testing is that the information obtained has implications for family members. This information may have value to relatives individually and may affect family interactions. Information also has value at a social level; it may affect social relationships and interactions. As the possibilities for genetic testing expand, it is likely that testing programs will be subject to economic evaluation. Until the methods and measures used can validly take this range of effects into account (and into a count of benefits), then the results of evaluation studies will be, at best, incomplete and, at worst, misleading.

Cost-Benefit Analysis↗
PubMed2003

US physicians' attitudes toward genetic testing for cancer susceptibility.

Genetic testing for an inherited susceptibility to cancer is an emerging technology in medical practice. Little information is currently available about physicians' attitudes toward these tests. To assess US physicians' opinions on unresolved issues surrounding genetic testing, a 15-min survey was administered to a stratified random sample of 1,251 physicians from 8 specialties, selected from a file of all licensed physicians in the US (response rate = 71.0%). Dependent measures included physicians' attitudes toward genetic counseling and testing qualifications, availability of guidelines, patient confidentiality and insurance discrimination issues, and clinical utility of genetic tests. More than 89% of physicians reported a need for physician guidelines, 81% thought that patients with positive genetic test results are at risk for insurance discrimination, and more than 53% thought that it was difficult to ensure the confidentiality of test results. Almost 25% indicated that genetic tests for cancer susceptibility have too many inaccurate or ambiguous results; nearly 75% thought that clear guidelines are not available for managing patients with positive test results. Only 29% of physicians reported feeling qualified to provide genetic counseling to their patients. More than 84% of oncologists considered themselves qualified to recommend genetic testing to their patients compared with 40% of primary care physicians (PCPs), and 57% of tertiary care physicians (TCPs). US physicians expressed great uncertainty about issues surrounding genetic testing for cancer susceptibility. Results of this national survey underscore the need to provide physicians with clear guidelines on the use of genetic cancer susceptibility tests and effective medical training on their appropriate implementation.

Attitude of Health Personnel↗
PubMed2004

Clinical germline genetic testing for melanoma.

Clinical genetic testing for mutations in CDKN2A (cyclin-dependent kinase inhibitor 2A), a melanoma susceptibility gene, is now available. The International Melanoma Genetics Consortium advocates that genetic testing for CDKN2A should be done only as part of a research protocol. Experience with genetic testing for other cancer-susceptibility genes indicates that CDKN2A testing has enormous potential for the prevention and detection of a deadly disease. However, clinicians need to understand the benefits and shortcomings of clinical CDKN2A testing so that it can be used advantageously. Here, we examine whether CDKN2A meets the recommendations of the American Society of Clinical Oncology (ASCO) for cancer-susceptibility genetic testing. Although genetic testing for hereditary melanoma should, whenever possible, occur within research protocols, it might be successfully done outside of research protocols if attention is paid to selection, education, and counselling needs of patients; valid test interpretation; and the changing of medical management in appropriate individuals.

Cyclin-Dependent Kinase Inhibitor p16↗
PubMedDate not supplied

Attitudes of African American premedical students toward genetic testing and screening.

PURPOSE: Genetic research is progressing at a rapid rate. While most view genetic advances favorably, concerns regarding eugenics and discrimination based on genetic test results have been raised. These concerns have been found among all groups studied; however, they have particular relevance for members of the African American community. Studies have shown that because of a long history of negative experiences, African Americans have a general mistrust of the medical establishment. It is unclear whether these negative attitudes encompass genetic advances. Because there is little empiric data in the literature, it is not known whether African Americans have a positive view of genetic advances or whether they have the same level of mistrust as is seen in their attitudes toward other forms of biomedical research. METHODS: This study was conducted as an initial effort to examine the attitudes of African Americans toward recent genetic advances and, specifically, genetic testing. A cohort of 97 college-age minority students, including 78 African Americans, participating in the Health Career Enhancement for Minorities Program (HCEM) at Case Western Reserve University were surveyed. Surveys were made available before and after the summer long course, which included five lectures on basic genetic principles and medical genetics. RESULTS: Both African American students and other minority students initially (questionnaire prior to HCEM course) had an overall positive view of genetic testing. The vast majority supported genetic testing for preventive care (95%) and presymptomatic detection of disease (88%) and agreed that it should be easily available (83%). However, several concerns were expressed as well, including fears about discrimination (68%), privacy (68%), that abortions will become more common (51%), and eugenics (37%). It is interesting that in the postcourse questionnaire, the percentages of positive views remained similar to those of the precourse survey, but the number of respondents expressing concerns increased. DISCUSSION: These results suggest that the minority students surveyed view many aspects of genetic testing and other advances favorably. However, these students expressed concerns about discrimination, privacy, and eugenics. These concerns were increased, not lessened, by exposure to genetics education. One possible explanation for this observation is that the students had a greater understanding of the issues regarding genetic testing after the HCEM lectures and discussion. Of note, there was a greater negative response toward genetic screening programs among the African American students compared with the non-African American minority students. This suggests that the negative attitudes of African Americans toward biomedical research do extend to some aspects of genetics and that educational programs must be designed and implemented if this community is going to receive the maximum benefits of this advancing technology.

Adult↗
PubMed1997

Genetic testing of children at risk for Huntington's disease. US Huntington Disease Genetic Testing Group.

We reviewed 44 symptomatic children tested for CAG repeat expansions in the gene responsible for Huntington's disease (HD). Thirty-three patients had CAG repeat expansions, and 11 did not. No patient with a CAG repeat expansion had a negative family history of HD. Of the 15 patients presenting in the first decade, 12 had greater than 80 CAG repeats and a clinical profile at the time of the test that included two or more of the following: declining school performance, seizures, oral motor dysfunction, rigidity, and gait disorder. Three patients with smaller CAG repeat expansions had incomplete or atypical symptom profiles. Symptom patterns in patients presenting in the second decade were more varied but usually included behavioral and motor symptoms. Patients without CAG expansions had incomplete or atypical symptom profiles. We define the historical and clinical profiles of HD presenting in the first two decades and suggest that physicians exercise restraint in using a "diagnostic" gene test for HD in the evaluation of at-risk children with incomplete or atypical symptom profiles or no family history of HD, in whom test results are very likely to be normal or unrelated to the patient's symptoms.

Adolescent↗