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PubMed1992

A survey of state insurance commissioners concerning genetic testing and life insurance.

Rapid advances in genetic testing have stimulated growing concern about the potential for misuse of genetic data by insurance companies, employers, and other third parties. Thus far, reports of genetically based discrimination in life insurance have been anecdotal. Reasoning that state insurance commissioners were likely to be aware of (1) the extent of current use of and interest in genetic tests by life insurers and (2) consumer complaints about insurance being denied because of genetic condition or because of genetic test results, we conducted a survey of that group. We received responses from 42 of the 51 jurisdictions. Our results suggest (1) that those who regulate the life insurance industry do not yet perceive genetic testing to pose a significant problem in how insurers rate applicants, (2) that life insurers have much legal latitude to require genetic tests, and (3) that so far few consumers have formally complained to commissioners about the use of genetic data by life insurers.

Adult↗
PubMed2005

The association between knowledge and attitudes about genetic testing for cancer risk in the United States.

Attitudes about genetic testing are likely to be an important determinant of uptake of predictive genetic tests among the general public. Several prior studies have suggested that positive attitudes about genetic testing may be inversely related to knowledge about genetic testing. We conducted a random-digit-dialing (RDD) telephone survey of 961 adults in the continental United States to determine the associations among knowledge of, attitudes about, and perceptions of eligibility for genetic testing for cancer risk. Knowledge about genetic testing for cancer risk was generally high, with a mean accuracy score of 72%. Attitudes about genetic testing for cancer risk were also generally positive, with 87% of respondents reporting genetic testing for cancer risk would be used to help doctors manage their health care and 85% to help scientists find cures for diseases. In contrast, 58% of respondents thought genetic testing for cancer risk would be used to prevent them from getting health insurance and 31% to allow the government to label groups as inferior. Twenty-nine percent of respondents thought they were currently eligible for testing. After adjustment for sociodemographic characteristics and family cancer history, higher knowledge was correlated with more positive attitudes about testing, but not with negative attitudes or perceptions of testing eligibility. Family history was positively associated with perceptions of eligibility (OR 3.49, 95% CI 2.36-5.18), and higher levels of education were inversely associated with perceptions of eligibility (OR 0.55, 95% CI 0.32-0.94 for comparison of college or higher vs. less than high school). These results suggest that most members of the general public are knowledgeable and have positive attitudes about genetic testing for cancer risk and that greater knowledge is correlated with more positive attitudes about the benefits of testing.

Adolescent↗
PubMed1998

Bringing genetic tests into the clinic.

The tests tend to become possible soon after the discovery of a disease-related gene. Hence, they often become available before any interventions are known to be effective. They may also arrive before extensive knowledge regarding their clinical validity. To ensure their safe and effective use, physicians must face several issues--in which the crucial point may be not so much that a test is genetic as that it is used predictively.

Attitude of Health Personnel↗
PubMed2002

Role of liver biopsy in the diagnosis of hepatic iron overload in the era of genetic testing.

We studied hepatic iron overload (HIOL) patterns in 32 patients who underwent liver biopsies and testing for HFE mutations (C282Y, H63D). Iron-stained biopsy specimens were examined for patterns of iron deposits: hereditary hemochromatosis (HH) pattern or non-HH pattern. Visual iron grade based on amount of cellular and lobular iron was evaluated. We found the HH pattern in 17 biopsy specimens (53%) and the non-HH pattern in 6 specimens (19%). HH with superimposed non-HH was noted in 9 cases (28%). In 25 patients with HFE mutations, HH alone and combined with non-HH patterns was noted in 22 specimens (88%). Visual iron grade correlated approximately with the hepatic iron index. Heavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without either HFE mutation. Mild steatohepatitis was found in 21 specimens (66%); it was associated with the non-HH pattern in 80% (12/15) and the HH pattern in 62% (16/26) of cases. Liver biopsy can identify pattern and grade of HIOL and associated pathology for diagnosis and management of patients with abnormal iron studies and elevated liver function test results. Genetic tests for HFE mutations and liver biopsies are complementary in the workup of these patients.

Adult↗
PubMed2000

Genetic testing.

New research developments in the molecular genetics of cancer have led to the feasibility of cancer genetic testing. At present, genetic test results can better inform individuals at risk about appropriately tailored strategies for cancer screening and prevention. In the future, more persons will be eligible for genetic evaluation; in particular, if it is shown that patients with cancer who are carriers of germline mutations respond differently to treatments, genetic testing may be warranted. Consideration needs to be given to the appropriate delivery of genetic risk assessment and testing. There is a great potential for misinterpretation of gene test results and for adverse psychosocial consequences for patients. Genetic counseling is an important component in cancer risk assessment and management, particularly in helping persons at risk understand the implications of gene test results in the context of their experience with cancer and surveillance.

Confidentiality↗
PubMed2006

Policy implications of genetic testing: not just for geneticists anymore.

Genetic testing is expanding rapidly to become part of mainstream medicine. While genetic tests bring with them the promise of improved diagnosis and treatment for patients, they also raise several policy challenges. These challenges include the lack of a coherent oversight system to ensure the quality of tests and testing laboratories, the rise of direct-to-consumer genetic testing, the dearth of professional guidelines to assist the transition of genetic tests from research to medical practice, and the absence of federal legislation to protect the privacy of genetic information and prevent genetic discrimination.

Genetic Techniques↗
PubMed2004

Attitudes of deaf individuals towards genetic testing.

Recent advances have made molecular genetic testing for several forms of deafness more widely available. Previous studies have examined the attitudes of the deaf towards genetic testing, including prenatal diagnosis. This study examines the attitudes of deaf college students towards universal newborn hearing screening, including molecular testing for specific forms of deafness, as well as the utilization of genetic test results for mate selection. We found that there may be differences in the attitudes of deaf individuals who associate closely with the deaf community (DC), and those who have equal involvement with both the deaf and hearing communities (EIC). The majority perceived newborn hearing screening for deafness to be helpful. However, more members of the EIC than the DC groups support newborn testing for genes for deafness. While there was reported interest in using genetic testing for partner selection, most participants reported they would not be interested in selecting a partner to have children with a specific hearing status. The results of this study point out important differences that genetic professionals should be aware of when counseling deaf individuals.

Adolescent↗
PubMed2004

Genetic testing for single gene disorders.

Genetic testing for single gene disorders is becoming available in Sri Lanka. While it offers many benefits, there are concerns about psychological and social problems that can be a consequence of such tests. This article aims to review the potential benefits and disadvantages of genetic testing, and recommends mechanisms that would help minimise problems associated with the inappropriate use of genetic tests.

Confidentiality↗
PubMedDate not supplied

Genetic testing coverage and reimbursement: a provider's dilemma.

The rapid growth of new molecular genetic tests stimulated by the diagnostic potential of DNA/RNA analyses has resulted in the capability of molecular genetic assay technology outpacing the American Medical Association Current Procedural Terminology (CPT) codes and Medicare reimbursement. The AMA CPT Editorial Panel is poised to change the way we report genetic testing, and this change may have the potential to stimulate a governmental review of how Medicare is paying for diagnostic genetic testing. Genetic assays are costly, and those in laboratory management need to be aware of potential changes that may influence the ability of their laboratory to provide access to genetic testing services for their physician clientele. The commercialization of genetic testing has resulted in a proliferation of commercial laboratories and university medical center laboratories, CLIA-certified to perform high complexity testing, offering some level of genetic testing. The genetic tests are offered as home brew (in-house developed) assays, most of which are using analyte-specific reagents. Because these are home brew assays, there is no standardization in how the industry tests for specific mutations. As these genetic assays are billed using the generic molecular diagnostic codes, 83890 through 83912, from the Pathology and Laboratory Chemistry subsection of the CPT, payers are not able to identify the specific mutations being tested and make payment determinations based on the mutations as they relate to the diagnosis code. This article discusses the history of molecular diagnostic coding and related reimbursement, current coverage issues, and the genetic coding proposal under consideration by the AMA CPT Editorial Panel.

Centers for Medicare and Medicaid Services, U.S.↗
PubMed2002

BRCA1/2 genetic testing in the community setting.

PURPOSE: BRCA1/2 genetic testing has been commercially available in the United States since 1996. Most published reports described BRCA1/2 testing as research studies at large academic centers, but less is known about testing in the community. This study evaluates the process and early outcomes of BRCA1/2 genetic testing as a clinical service in the community setting. METHODS: Surveys were mailed to women in the United States whose health care providers ordered BRCA1/2 genetic testing from Myriad Genetic Laboratories from August 1998 through July 2000. Women tested at 149 large academic centers were excluded. Main outcome measures were demographic characteristics, recall of and satisfaction with the genetic testing process, and likelihood of pursuing cancer prevention strategies. RESULTS: Among the 646 respondents, 414 (64%) had a personal history of cancer and 505 (78%) had at least one first-degree relative with breast and/or ovarian cancer. Most subjects (82%) recalled discussions of informed consent before testing (median time, 30 minutes). Genetic results were conveyed during an office visit (57%), by telephone (39%), or by mail (3%). More than 75% of respondents were "very satisfied with the counseling received." Cancer-free subjects with a germline mutation were more likely to consider prevention strategies after receiving the genetic results. CONCLUSION: Virtually all respondents had a personal and/or family history of breast/ovarian cancer. Although pretest and posttest communications were not standardized, overall satisfaction with clinical breast cancer genetic testing was high. Additional follow-up will provide data on future cancer prevention practices and cancer incidence.

Adult↗
PubMed2002

Estimating the sensitivity of a genetic test using gene-carrier probability estimates and its application in genetic counselling.

BACKGROUND: The estimation of the sensitivity of a genetic test is of practical importance. If a 'gold standard' (an exact test) is not available, an estimate of the probability of being a gene carrier may be useful for an individual. This information could be based on individual pedigree and family-history data, and a known genetic model for the disease of interest. METHODS: We develop a maximum-likelihood estimate of the sensitivity of a genetic test that may be applied in a situation without a 'gold standard', in which an estimate of the probability of being a gene carrier for an individual is available. RESULTS: A maximum-likelihood estimate for the sensitivity can be obtained through an iterative algorithm. We demonstrate the method using data from a project on familial breast cancer. We further present disease-risk estimates incorporating results from a genetic test with different values of sensitivity, and compare these with disease-risk estimates that are solely based on family-history data. DISCUSSION: We provide a systematic methodology to obtain an estimate of sensitivity of a genetic test when only gene-carrier probability estimates from a genetic model are available. Given a negative result from a genetic test, predictions for lifetime and age-specific disease-risk, accounting for test sensitivity, can then be provided in genetic counselling.

Algorithms↗
PubMed2002

[The ethical implications, guidelines, and standardization of genetic tests].

Laboratory advances in molecular genetics have resulted in numerous clinical applications for DNA analysis. Genetic tests can contribute a great deal of information to clinical diagnosis. These genetic tests including PCR, fluorescence detection, real-time PCR, and automated sequencing have developed into both simple and time-consuming laboratory techniques. Currently, DNA diagnosis is not used routinely because of cost, complexity, and resources. We have focused on the ethical implications and proper standardization in DNA diagnosis. This review is to discuss a guide to proceed genetic tests for their efficiency, accessibility and quality in laboratory.

Genetic Counseling↗
PubMed2005

Interest of adolescents in genetic testing for nicotine addiction susceptibility.

OBJECTIVES: Genetic tests for nicotine addiction susceptibility may someday offer preventive medicine specialists new tools to reduce smoking among adolescents. This paper examines adolescents' interest in, and reasons behind interest in, such testing and correlates of interest. METHODS: The sample included 211 healthy patients (ages 13-21) recruited from Georgetown University Medical Center's adolescent medicine clinic. Subjects completed a one-time behavioral survey immediately prior to or following a general medical check-up during calendar years 2001-2005. A 4-point self-report survey item served as the dependent variable. RESULTS: Sixty-two percent of adolescents were interested in genetic testing. Among the 72% of adolescents who provided a reason for their interest, 35% would find the information interesting for general or nonspecific reasons, 30% would find it personally useful, 8% noted it would be irrelevant, and 13% stated it would be unimportant; school performance and interest in cancer susceptibility testing were associated with interest in nicotine addiction susceptibility testing (adjusted r2 = 21%; P < 0.0001). CONCLUSIONS: Adolescent primary care patients will likely be receptive to comprehensive tobacco control programs incorporating genetic testing. Higher levels of educational achievement and greater interest in DNA-based preventive medicine may characterize those most interested. Offering testing will be contingent upon the development of safe and effective genetic tests.

Adolescent↗
PubMed1997

Commercialization of genetic testing services: the FDA, market forces, and biological tarot cards.

Many women fear being diagnosed with breast cancer, and rightfully so. Despite the capabilities of modern medicine, the cumulative lifetime risk of getting the disease has risen to one in eight and, despite decades of research, no cures exist. In this Article, the authors explore the commercialization of so-called breast cancer gene tests, based upon genetic alterations linked to the disease. Although the authors fully address this specific technology, they use what constitutes the seminal case of predictive genetic testing to analyze the adequacy of the existing regulatory framework. The authors conclude that the present regulatory system is inadequate and places a dangerous amount of reliance on primary care physicians. Their conclusion is grounded in the observation that most primary care physicians lack sufficient knowledge about this evolving investigative technology--which is highly subject to misinterpretation, and, though potentially helpful to some "high risk" patients, offers questionable clinical value for the general public. The authors set forth numerous proposals to promote both the quality and clinical value of predictive genetic testing so that it conforms to public health standards and can be properly integrated as a reliable component of medical care in specific situations.

Advisory Committees↗
PubMed2001

Beyond consent: ethical and social issues in genetic testing.

Informed consent is a vital ethical doctrine in clinical medicine and, through genetic counselling, is being applied to genetic testing. But genetic testing raises issues that transcend the traditional concept of informed consent. Genetic tests are adopted without demonstrable clinical benefit, and the consequences of testing can reach beyond the individual to their families and communities. Understanding the social and cultural context of genetic testing will lead to more informed discussion and debate on these issues.

Ethics, Medical↗
PubMed2006

A practical approach to genetic testing for von Willebrand disease.

von Willebrand disease (vWD) is the most commonly diagnosed congenital bleeding disorder. The laboratory diagnosis of type 2 variants and type 3 vWD is reasonably well defined, and characterization of the von Willebrand factor (vWF) gene has facilitated definition of their molecular basis. However, for type 1 vWD, the laboratory diagnosis poses a diagnostic dilemma, and knowledge of its molecular basis is evolving. Characterization of the vWF gene and refinement of genetic techniques have led to an evolving repertoire of genetic tests. Genetic testing is costly, and thus judicious use will be increasingly important for appropriate genetic-counseling of patients with vWD and their family members. This article provides a practical approach to utilization of genetic testing in vWD.

Genetic Testing↗
PubMed2002

Genetic testing for disease susceptibilities: consequences for genetic counseling.

The role of genetic counseling in future testing for inherited susceptibilities for common diseases is debated. Currently, genetic testing, ideally supported by genetic counseling, is most often used to modify the assessment of genetic risk of Mendelian-inherited disease in high-risk individuals for the purpose of personal decision-making. By contrast, it is anticipated that genetic testing will be used to identify increased disease susceptibility in low-risk individuals for the purpose of instituting medical or lifestyle interventions to modify risk for future disease.

Genetic Counseling↗